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    BMAL1 basic helix-loop-helix ARNT like 1 [ Homo sapiens (human) ]

    Gene ID: 406, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BMAL1provided by HGNC
    Official Full Name
    basic helix-loop-helix ARNT like 1provided by HGNC
    Primary source
    HGNC:HGNC:701
    See related
    Ensembl:ENSG00000133794 MIM:602550; AllianceGenome:HGNC:701
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIC; JAP3; MOP3; ARNTL; PASD3; ARNTL1; BMAL1c; bHLHe5
    Summary
    The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. The protein regulates interferon-stimulated gene expression and is an important factor in viral infection, including COVID-19. [provided by RefSeq, Oct 2021]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in adrenal (RPKM 8.3), skin (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BMAL1 in Genome Data Viewer
    Location:
    11p15.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (13276652..13387266)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (13369378..13480010)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13298199..13408813)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:13132777-13133277 Neighboring gene uncharacterized LOC124902635 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:13142147-13142764 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13228795-13229352 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:13282544-13283743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3167 Neighboring gene Sharpr-MPRA regulatory region 3016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:13362823-13363323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4464 Neighboring gene uncharacterized LOC124902636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13379341-13379905 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:13385691-13386451 Neighboring gene RN7SK pseudogene 151 Neighboring gene BTB domain containing 10 Neighboring gene uncharacterized LOC124902846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4465 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:13493470-13494035 Neighboring gene PTH promoter region Neighboring gene parathyroid hormone

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Epigenetic Regulation of BMAL1 with Sleep Disturbances and Alzheimer's Disease. Hulme B, et al. J Alzheimers Dis, 2020. PMID 32925059
    2. Impaired decidualization caused by downregulation of circadian clock gene BMAL1 contributes to human recurrent miscarriage†. Lv S, et al. Biol Reprod, 2019 Jul 1. PMID 30985884
    3. The major circadian pacemaker ARNT-like protein-1 (BMAL1) is associated with susceptibility to gestational diabetes mellitus. Pappa KI, et al. Diabetes Res Clin Pract, 2013 Feb. PMID 23206673
    4. Clockophagy is a novel selective autophagy process favoring ferroptosis. Yang M, et al. Sci Adv, 2019 Jul. PMID 31355331, Free PMC Article
    5. The circadian clock gene BMAL1 is a novel therapeutic target for malignant pleural mesothelioma. Elshazley M, et al. Int J Cancer, 2012 Dec 15. PMID 22510946, Free PMC Article

    See all (262) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bmal1 regulates the stemness and tumorigenesis of gliomas with the Wnt/beta-catenin signaling pathway.
      Title: Bmal1 regulates the stemness and tumorigenesis of gliomas with the Wnt/β-catenin signaling pathway.
    2. Arntl-induced upregulation of DUSP1 inhibits tumor progression in esophageal squamous cell carcinoma by inactivating ERK signaling.
      Title: Arntl-induced upregulation of DUSP1 inhibits tumor progression in esophageal squamous cell carcinoma by inactivating ERK signaling.
    3. BMAL1 plays a crucial role in immune homeostasis during sepsis-induced acute lung injury.
      Title: BMAL1 plays a crucial role in immune homeostasis during sepsis-induced acute lung injury.
    4. Circadian disruption reduces MUC4 expression via the clock molecule BMAL1 during dry eye development.
      Title: Circadian disruption reduces MUC4 expression via the clock molecule BMAL1 during dry eye development.
    5. Circadian Clock Gene bmal1 Acts as a Tumor Suppressor Gene in a Mice Model of Human Glioblastoma.
      Title: Circadian Clock Gene bmal1 Acts as a Tumor Suppressor Gene in a Mice Model of Human Glioblastoma.
    6. Phosphorylation of DNA-binding domains of CLOCK-BMAL1 complex for PER-dependent inhibition in circadian clock of mammalian cells.
      Title: Phosphorylation of DNA-binding domains of CLOCK-BMAL1 complex for PER-dependent inhibition in circadian clock of mammalian cells.
    7. Targeting BMAL1 reverses drug resistance of acute myeloid leukemia cells and promotes ferroptosis through HMGB1-GPX4 signaling pathway.
      Title: Targeting BMAL1 reverses drug resistance of acute myeloid leukemia cells and promotes ferroptosis through HMGB1-GPX4 signaling pathway.
    8. Melatonin ameliorates hepatic fibrosis via the melatonin receptor 2-mediated upregulation of BMAL1 and anti-oxidative enzymes.
      Title: Melatonin ameliorates hepatic fibrosis via the melatonin receptor 2-mediated upregulation of BMAL1 and anti-oxidative enzymes.
    9. BMAL1 positively correlates with genes regulating steroidogenesis in human luteinized granulosa cells.
      Title: BMAL1 positively correlates with genes regulating steroidogenesis in human luteinized granulosa cells.
    10. The clock gene Bmal1 controls inflammatory mediators in rheumatoid arthritis fibroblast-like synoviocytes.
      Title: The clock gene Bmal1 controls inflammatory mediators in rheumatoid arthritis fibroblast-like synoviocytes.
    Submit: New GeneRIF Correction See all GeneRIFs (182)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
    EBI GWAS Catalog
    Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci.
    EBI GWAS Catalog
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of aryl hydrocarbon receptor nuclear translocator-like (ARNTL) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC47515

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables E-box binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables Hsp90 protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables aryl hydrocarbon receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transcription coregulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in circadian regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in circadian rhythm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of TOR signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of glucocorticoid receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oxidative stress-induced premature senescence ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of circadian rhythm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of circadian rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein acetylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of skeletal muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cellular senescence ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of hair cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of type B pancreatic cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to redox state IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of CLOCK-BMAL transcription complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of aryl hydrocarbon receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in chromatoid body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    basic helix-loop-helix ARNT-like protein 1
    Names
    ARNT-like protein 1, brain and muscle
    PAS domain containing 3
    PAS domain-containing protein 3
    aryl hydrocarbon receptor nuclear translocator like
    aryl hydrocarbon receptor nuclear translocator-like protein 1
    bHLH-PAS protein JAP3
    basic helix-loop-helix family member e5
    basic-helix-loop-helix-PAS orphan MOP3
    basic-helix-loop-helix-PAS protein MOP3
    brain and muscle ARNT-like 1
    class E basic helix-loop-helix protein 5
    member of PAS protein 3
    member of PAS superfamily 3
    mutant basic helix-loop-helix ARNT-like protein 1
    testis tissue sperm-binding protein Li 50e

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001030272.3 → NP_001025443.1  basic helix-loop-helix ARNT-like protein 1 isoform a

      See identical proteins and their annotated locations for NP_001025443.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 4. The resulting isoform (a) is 1 aa shorter compared to isoform c. Variants 1, 2, 10, and 11 all encode isoform a.
      Source sequence(s)
      AK291510, BC041129, BE391243
      UniProtKB/TrEMBL
      A0A140VKD3, B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:338 → 440
      PAS_11; PAS domain

    2. NM_001030273.3 → NP_001025444.1  basic helix-loop-helix ARNT-like protein 1 isoform b

      See identical proteins and their annotated locations for NP_001025444.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, contains an alternate exon, and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 4. The resulting isoform (b) has a shorter and distinct N-terminus and lacks an alternate internal aa compared to isoform c. Variants 3 and 22 both encode isoform b.
      Source sequence(s)
      AF044288, AK095749, BE391243
      Consensus CDS
      CCDS44543.1
      UniProtKB/TrEMBL
      B2RCL8
      Related
      ENSP00000385915.2, ENST00000401424.6
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:295 → 397
      PAS_11; PAS domain

    3. NM_001178.6 → NP_001169.3  basic helix-loop-helix ARNT-like protein 1 isoform a

      See identical proteins and their annotated locations for NP_001169.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 4. The resulting isoform (a) is 1 aa shorter compared to isoform c. Variants 1, 2, 10, and 11 all encode isoform a.
      Source sequence(s)
      BC041129, BE391243
      UniProtKB/TrEMBL
      A0A140VKD3, B2RCL8
      Related
      ENSP00000374357.4, ENST00000389707.8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:338 → 440
      PAS_11; PAS domain

    4. NM_001297719.2 → NP_001284648.1  basic helix-loop-helix ARNT-like protein 1 isoform c

      See identical proteins and their annotated locations for NP_001284648.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes isoform c. Variants 4, 5, and 9 all encode the same isoform (c).
      Source sequence(s)
      AC016884, AF044288, AK315174, BE391243
      Consensus CDS
      CCDS73259.1
      UniProtKB/Swiss-Prot
      A2I2N6, A8K645, B5ME11, B7WPG7, D3DQW6, O00313, O00314, O00315, O00316, O00317, O00327, Q4G136, Q8IUT4, Q99631, Q99649
      UniProtKB/TrEMBL
      B2RCL8
      Related
      ENSP00000384517.1, ENST00000403290.6
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:339 → 441
      PAS_11; PAS domain

    5. NM_001297722.2 → NP_001284651.1  basic helix-loop-helix ARNT-like protein 1 isoform c

      See identical proteins and their annotated locations for NP_001284651.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 4. Variants 4, 5, and 9 all encode the same isoform (c).
      Source sequence(s)
      AF044288, AK291510, BE391243
      Consensus CDS
      CCDS73259.1
      UniProtKB/Swiss-Prot
      A2I2N6, A8K645, B5ME11, B7WPG7, D3DQW6, O00313, O00314, O00315, O00316, O00317, O00327, Q4G136, Q8IUT4, Q99631, Q99649
      UniProtKB/TrEMBL
      B2RCL8
      Related
      ENSP00000385581.4, ENST00000403510.8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:339 → 441
      PAS_11; PAS domain

    6. NM_001297724.2 → NP_001284653.1  basic helix-loop-helix ARNT-like protein 1 isoform d

      See identical proteins and their annotated locations for NP_001284653.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and contains an alternate exon compared to variant 4. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform c. Variants 6, 17, 18, 19, 20, and 21 all encode the same isoform (d).
      Source sequence(s)
      BC031214, BE391243
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:296 → 398
      PAS_11; PAS domain

    7. NM_001351804.1 → NP_001338733.1  basic helix-loop-helix ARNT-like protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 1, 2, and 11, encodes isoform a.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      A0A140VKD3, B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:338 → 440
      PAS_11; PAS domain

    8. NM_001351805.2 → NP_001338734.1  basic helix-loop-helix ARNT-like protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Related
      ENSP00000385897.3, ENST00000403482.7
      Conserved Domains (3) summary
      smart00091
      Location:136 → 195
      PAS; PAS domain
      pfam00010
      Location:61 → 113
      HLH; Helix-loop-helix DNA-binding domain
      cl25986
      Location:326 → 428
      PAS_3; PAS fold

    9. NM_001351806.2 → NP_001338735.1  basic helix-loop-helix ARNT-like protein 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:136 → 195
      PAS; PAS domain
      pfam00010
      Location:61 → 113
      HLH; Helix-loop-helix DNA-binding domain
      cl25986
      Location:325 → 427
      PAS_3; PAS fold

    10. NM_001351807.2 → NP_001338736.1  basic helix-loop-helix ARNT-like protein 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variant 7, encodes isoform e.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:339 → 441
      PAS_11; PAS domain

    11. NM_001351808.2 → NP_001338737.1  basic helix-loop-helix ARNT-like protein 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 6, 18, 19, 20, and 21, encodes isoform d.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:296 → 398
      PAS_11; PAS domain

    12. NM_001351809.2 → NP_001338738.1  basic helix-loop-helix ARNT-like protein 1 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variant 16, encodes isoform i.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:132 → 191
      PAS; PAS domain
      cd11438
      Location:50 → 113
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:322 → 424
      PAS_11; PAS domain

    13. NM_001351810.2 → NP_001338739.1  basic helix-loop-helix ARNT-like protein 1 isoform k

      Status: REVIEWED

      Description
      Transcript Variant: This variant (29), as well as variant 30, encodes isoform k.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      pfam00010
      Location:74 → 126
      HLH; Helix-loop-helix DNA-binding domain
      cl25986
      Location:272 → 323
      PAS_3; PAS fold

    14. NM_001351811.2 → NP_001338740.1  basic helix-loop-helix ARNT-like protein 1 isoform m

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878
      Conserved Domains (1) summary
      pfam14598
      Location:89 → 191
      PAS_11; PAS domain

    15. NM_001351812.2 → NP_001338741.1  basic helix-loop-helix ARNT-like protein 1 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variant 15, encodes isoform i.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:132 → 191
      PAS; PAS domain
      cd11438
      Location:50 → 113
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:322 → 424
      PAS_11; PAS domain

    16. NM_001351813.2 → NP_001338742.1  basic helix-loop-helix ARNT-like protein 1 isoform j

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:295 → 397
      PAS_11; PAS domain

    17. NM_001351814.2 → NP_001338743.1  basic helix-loop-helix ARNT-like protein 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 8, encodes isoform e.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:339 → 441
      PAS_11; PAS domain

    18. NM_001351815.2 → NP_001338744.1  basic helix-loop-helix ARNT-like protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 1, 2, and 10, encodes isoform a.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      A0A140VKD3, B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:338 → 440
      PAS_11; PAS domain

    19. NM_001351816.2 → NP_001338745.1  basic helix-loop-helix ARNT-like protein 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 6, 17, 19, 20, and 21, encodes isoform d.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:296 → 398
      PAS_11; PAS domain

    20. NM_001351817.2 → NP_001338746.1  basic helix-loop-helix ARNT-like protein 1 isoform k

      Status: REVIEWED

      Description
      Transcript Variant: This variant (30), as well as variant 29, encodes isoform k (also called isoform l).
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      pfam00010
      Location:74 → 126
      HLH; Helix-loop-helix DNA-binding domain
      cl25986
      Location:272 → 323
      PAS_3; PAS fold

    21. NM_001351818.2 → NP_001338747.1  basic helix-loop-helix ARNT-like protein 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variant 3, encodes isoform b.
      Source sequence(s)
      AC016884, AC022878
      Consensus CDS
      CCDS44543.1
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:295 → 397
      PAS_11; PAS domain

    22. NM_001351819.2 → NP_001338748.1  basic helix-loop-helix ARNT-like protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878
      Consensus CDS
      CCDS91444.1
      UniProtKB/TrEMBL
      A0A669KBF4, B2RCL8
      Related
      ENSP00000501212.1, ENST00000673817.1
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:338 → 440
      PAS_11; PAS domain

    23. NM_001351820.2 → NP_001338749.1  basic helix-loop-helix ARNT-like protein 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 6, 17, 18, 20 and 21, encodes isoform d.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:296 → 398
      PAS_11; PAS domain

    24. NM_001351821.2 → NP_001338750.1  basic helix-loop-helix ARNT-like protein 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 6, 17, 18, 19, and 21, encodes isoform d.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:296 → 398
      PAS_11; PAS domain

    25. NM_001351822.2 → NP_001338751.1  basic helix-loop-helix ARNT-like protein 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 6, 17, 18, 19, and 20, encodes isoform d.
      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:296 → 398
      PAS_11; PAS domain

    26. NM_001351823.2 → NP_001338752.1  basic helix-loop-helix ARNT-like protein 1 isoform n

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878
      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:106 → 165
      PAS; PAS domain
      cd11438
      Location:24 → 87
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:296 → 398
      PAS_11; PAS domain

    27. NM_001351824.2 → NP_001338753.1  basic helix-loop-helix ARNT-like protein 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 4 and 5, encodes isoform c.
      Source sequence(s)
      AC016884, AC022878
      Consensus CDS
      CCDS73259.1
      UniProtKB/Swiss-Prot
      A2I2N6, A8K645, B5ME11, B7WPG7, D3DQW6, O00313, O00314, O00315, O00316, O00317, O00327, Q4G136, Q8IUT4, Q99631, Q99649
      UniProtKB/TrEMBL
      B2RCL8
      Related
      ENSP00000433571.2, ENST00000529388.6
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:339 → 441
      PAS_11; PAS domain

    RNA

    1. NR_147785.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878

    2. NR_147786.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878

    3. NR_147787.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878

    4. NR_147788.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878

    5. NR_147789.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878

    6. NR_147790.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878
      Related
      ENST00000673626.1

    7. NR_147791.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016884, AC022878
      Related
      ENST00000673892.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      13276652..13387266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017738.3 → XP_016873227.1  basic helix-loop-helix ARNT-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B2RCL8

    2. XM_017017739.3 → XP_016873228.1  basic helix-loop-helix ARNT-like protein 1 isoform X3

      UniProtKB/TrEMBL
      B2RCL8

    3. XM_011520105.4 → XP_011518407.2  basic helix-loop-helix ARNT-like protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RCL8

    4. XM_011520107.4 → XP_011518409.2  basic helix-loop-helix ARNT-like protein 1 isoform X4

      UniProtKB/TrEMBL
      B2RCL8

    5. XM_047426957.1 → XP_047282913.1  basic helix-loop-helix ARNT-like protein 1 isoform X8

    6. XM_047426958.1 → XP_047282914.1  basic helix-loop-helix ARNT-like protein 1 isoform X9

    7. XM_047426953.1 → XP_047282909.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    8. XM_047426952.1 → XP_047282908.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    9. XM_047426955.1 → XP_047282911.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    10. XM_047426954.1 → XP_047282910.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    11. XM_011520109.2 → XP_011518411.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

      See identical proteins and their annotated locations for XP_011518411.1

      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:339 → 441
      PAS_11; PAS domain

    12. XM_017017741.2 → XP_016873230.1  basic helix-loop-helix ARNT-like protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A669KBF4, B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:149 → 208
      PAS; PAS domain
      cd11438
      Location:67 → 130
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:338 → 440
      PAS_11; PAS domain

    13. XM_047426956.1 → XP_047282912.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    14. XM_024448522.1 → XP_024304290.1  basic helix-loop-helix ARNT-like protein 1 isoform X7

      UniProtKB/TrEMBL
      B2RCL8
      Conserved Domains (3) summary
      smart00091
      Location:132 → 191
      PAS; PAS domain
      cd11438
      Location:50 → 113
      bHLH-PAS_ARNTL_PASD3; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL) and similar proteins
      pfam14598
      Location:322 → 424
      PAS_11; PAS domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      13369378..13480010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368794.1 → XP_054224769.1  basic helix-loop-helix ARNT-like protein 1 isoform X1

    2. XM_054368796.1 → XP_054224771.1  basic helix-loop-helix ARNT-like protein 1 isoform X3

    3. XM_054368795.1 → XP_054224770.1  basic helix-loop-helix ARNT-like protein 1 isoform X2

    4. XM_054368797.1 → XP_054224772.1  basic helix-loop-helix ARNT-like protein 1 isoform X4

    5. XM_054368805.1 → XP_054224780.1  basic helix-loop-helix ARNT-like protein 1 isoform X8

    6. XM_054368806.1 → XP_054224781.1  basic helix-loop-helix ARNT-like protein 1 isoform X9

    7. XM_054368800.1 → XP_054224775.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    8. XM_054368799.1 → XP_054224774.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    9. XM_054368802.1 → XP_054224777.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    10. XM_054368801.1 → XP_054224776.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    11. XM_054368798.1 → XP_054224773.1  basic helix-loop-helix ARNT-like protein 1 isoform X5

    12. XM_054368803.1 → XP_054224778.1  basic helix-loop-helix ARNT-like protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A669KBF4

    13. XM_054368804.1 → XP_054224779.1  basic helix-loop-helix ARNT-like protein 1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00327.2 GenPept UniProtKB/Swiss-Prot:O00327

    Gene LinkOut

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