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    AHRR aryl hydrocarbon receptor repressor [ Homo sapiens (human) ]

    Gene ID: 57491, updated on 9-Dec-2024

    Summary

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    Official Symbol
    AHRRprovided by HGNC
    Official Full Name
    aryl hydrocarbon receptor repressorprovided by HGNC
    Primary source
    HGNC:HGNC:346
    See related
    Ensembl:ENSG00000063438 MIM:606517; AllianceGenome:HGNC:346
    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
    AHH; AHHR; bHLHe77
    Summary
    The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
    Expression
    Broad expression in testis (RPKM 4.1), spleen (RPKM 2.9) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AHRR in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (321714..438285)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (312595..433546)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (321829..438400)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:270110-270802 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15861 Neighboring gene PDCD6-AHRR readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:278988-279488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:279489-279989 Neighboring gene PDCD6 divergent transcript Neighboring gene programmed cell death 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:295122-295292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:296594-297122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:297123-297651 Neighboring gene PPP4R2 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:301361-301866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:301867-302372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:306908-307792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:322065-322632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22273 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:372826-373456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22281 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:399561-400760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15871 Neighboring gene mitochondrial translational initiation factor 3 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85003 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85008 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85009 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85011 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85012 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85017 Neighboring gene AHRR intron CAGE-defined high expression enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:415251-415804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22293 Neighboring gene uncharacterized LOC124900930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22294 Neighboring gene EXOC3 antisense RNA 1 Neighboring gene exocyst complex component 3

    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. Tissue differences in DNA methylation changes at AHRR in full term low birth weight in maternal blood, placenta and cord blood in Chinese. Tian FY, et al. Placenta, 2017 Apr. PMID 28454697
    2. AHRR methylation predicts smoking status and smoking intensity in both saliva and blood DNA. Philibert R, et al. Am J Med Genet B Neuropsychiatr Genet, 2020 Jan. PMID 31456352
    3. Aryl-Hydrocarbon Receptor Repressor Gene in Primary Graft Dysfunction after Lung Transplantation. Anderson MR, et al. Am J Respir Cell Mol Biol, 2019 Aug. PMID 31368810, Free PMC Article
    4. Smoking-associated AHRR demethylation in cord blood DNA: impact of CD235a+ nucleated red blood cells. Bergens MA, et al. Clin Epigenetics, 2019 Jun 10. PMID 31182156, Free PMC Article
    5. Methylation at cg05575921 of a smoking-related gene (AHRR) in non-smoking Taiwanese adults residing in areas with different PM(2.5) concentrations. Tantoh DM, et al. Clin Epigenetics, 2019 May 6. PMID 31060609, Free PMC Article

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA methylation at AHRR as a master predictor of smoke exposure and a biomarker for sleep and exercise.
      Title: DNA methylation at AHRR as a master predictor of smoke exposure and a biomarker for sleep and exercise.
    2. The Influence of Smoking and Occupational Risk Factors on DNA Methylation in the AHRR and F2RL3 Genes.
      Title: The Influence of Smoking and Occupational Risk Factors on DNA Methylation in the AHRR and F2RL3 Genes.
    3. Blood Leukocyte AHRR Methylation and Risk of Non-smoking-associated Cancer: A Case-cohort Study of Non-Hodgkin Lymphoma.
      Title: Blood Leukocyte AHRR Methylation and Risk of Non-smoking-associated Cancer: A Case-cohort Study of Non-Hodgkin Lymphoma.
    4. AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer.
      Title: AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer.
    5. Development and validation of a simple general population lung cancer risk model including AHRR-methylation.
      Title: Development and validation of a simple general population lung cancer risk model including AHRR-methylation.
    6. From Differential DNA Methylation in COPD to Mitochondria: Regulation of AHRR Expression Affects Airway Epithelial Response to Cigarette Smoke.
      Title: From Differential DNA Methylation in COPD to Mitochondria: Regulation of AHRR Expression Affects Airway Epithelial Response to Cigarette Smoke.
    7. AhRR methylation contributes to disease progression in urothelial bladder cancer.
      Title: AhRR methylation contributes to disease progression in urothelial bladder cancer.
    8. The association between DNA methylation of 6p21.33 and AHRR in blood and coronary heart disease in Chinese population.
      Title: The association between DNA methylation of 6p21.33 and AHRR in blood and coronary heart disease in Chinese population.
    9. The Contribution of Genetic Variation and Aberrant Methylation of Aryl Hydrocarbon Receptor Signaling Pathway Genes to Rheumatoid Arthritis.
      Title: The Contribution of Genetic Variation and Aberrant Methylation of Aryl Hydrocarbon Receptor Signaling Pathway Genes to Rheumatoid Arthritis.
    10. AHRR (cg05575921) Methylation Safely Improves Specificity of Lung Cancer Screening Eligibility Criteria: A Cohort Study.
      Title: AHRR (cg05575921) Methylation Safely Improves Specificity of Lung Cancer Screening Eligibility Criteria: A Cohort Study.
    Submit: New GeneRIF Correction See all GeneRIFs (80)

    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
    Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
    EBI GWAS Catalog
    Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
    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)

    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

    Readthrough PDCD6-AHRR

    Readthrough gene: PDCD6-AHRR, Included gene: PDCD6

    Homology

    Clone Names

    • KIAA1234, MGC167813, MGC176630

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in xenobiotic metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    aryl hydrocarbon receptor repressor
    Names
    ahR repressor
    aryl hydrocarbon hydroxylase regulator
    class E basic helix-loop-helix protein 77
    dioxin receptor repressor

    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.

    Genomic

    1. NG_029834.2 RefSeqGene

      Range
      5001..139116
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001377236.1 → NP_001364165.1  aryl hydrocarbon receptor repressor

      Status: REVIEWED

      Source sequence(s)
      AC010442, AC118458
      Consensus CDS
      CCDS93682.1
      UniProtKB/Swiss-Prot
      A7MBN5, A9YTQ3, D6RAZ1, Q9HAZ3, Q9ULI6
      UniProtKB/TrEMBL
      A0A7I2PK40
      Related
      ENSP00000507476.1, ENST00000684583.1
      Conserved Domains (2) summary
      smart00091
      Location:113 → 176
      PAS; PAS domain
      cd11435
      Location:26 → 85
      bHLH-PAS_AhRR; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor repressor (AhRR) and similar proteins

    2. NM_001377239.1 → NP_001364168.1  aryl hydrocarbon receptor repressor

      Status: REVIEWED

      Source sequence(s)
      AC010442, AC118458
      Consensus CDS
      CCDS93682.1
      UniProtKB/Swiss-Prot
      A7MBN5, A9YTQ3, D6RAZ1, Q9HAZ3, Q9ULI6
      UniProtKB/TrEMBL
      A0A7I2PK40
      Related
      ENSP00000323816.6, ENST00000316418.10
      Conserved Domains (2) summary
      smart00091
      Location:113 → 176
      PAS; PAS domain
      cd11435
      Location:26 → 85
      bHLH-PAS_AhRR; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor repressor (AhRR) and similar proteins

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      321714..438285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      312595..433546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001242412.1: Suppressed sequence

      Description
      NM_001242412.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein. The transcript is incomplete at the 5' end.

    2. NM_020731.4: Suppressed sequence

      Description
      NM_020731.4: This RefSeq was removed because currently there is insufficient support for the transcript and the protein. The transcript is incomplete at the 5' end.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A9YTQ3.3 GenPept UniProtKB/Swiss-Prot:A9YTQ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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