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    CHD1L chromodomain helicase DNA binding protein 1 like [ Homo sapiens (human) ]

    Gene ID: 9557, updated on 10-Dec-2024

    Summary

    Official Symbol
    CHD1Lprovided by HGNC
    Official Full Name
    chromodomain helicase DNA binding protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:1916
    See related
    Ensembl:ENSG00000131778 MIM:613039; AllianceGenome:HGNC:1916
    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
    ALC1; CHDL
    Summary
    This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]
    Expression
    Ubiquitous expression in testis (RPKM 13.4), bone marrow (RPKM 10.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHD1L in Genome Data Viewer
    Location:
    1q21.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147172747..147295762)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (147512572..147635662, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (146644326..146767443)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NBPF member 13, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:146633127-146634326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1277 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1278 Neighboring gene protein kinase AMP-activated non-catalytic subunit beta 2 Neighboring gene protein disulfide isomerase family A member 3 pseudogene 1 Neighboring gene flavin containing dimethylaniline monoxygenase 5 Neighboring gene chaperonin containing TCP1 subunit 8 pseudogene 1 Neighboring gene HNF4 motif-containing MPRA enhancer 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1279 Neighboring gene ribosomal protein L7a pseudogene 15 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:146764440-146765639 Neighboring gene prostaglandin reductase 1 pseudogene Neighboring gene MPRA-validated peak402 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:146807941-146808527 Neighboring gene long intergenic non-protein coding RNA 624 Neighboring gene olfactory receptor family 13 subfamily Z member 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2018-08-30)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2018-08-30)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22530

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent chromatin remodeler activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables four-way junction helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone reader activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nucleotide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables poly-ADP-D-ribose modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded 3'-5' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol 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 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    is_active_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    chromodomain-helicase-DNA-binding protein 1-like
    Names
    amplified in liver cancer 1
    amplified in liver cancer protein 1
    NP_001243265.1
    NP_001243266.1
    NP_001243267.1
    NP_001335380.1
    NP_001335381.1
    NP_001335382.1
    NP_001335383.1
    NP_001335384.1
    NP_001335385.1
    NP_001335386.1
    NP_001335387.1
    NP_001335388.1
    NP_001335389.1
    NP_001335390.1
    NP_001335391.1
    NP_001335392.1
    NP_001335393.1
    NP_001335394.1
    NP_001335395.1
    NP_004275.4
    NP_078844.2
    XP_024306819.1
    XP_047290957.1
    XP_054195684.1
    XP_054195685.1

    NCBI Reference Sequences (RefSeq)

    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_052905.1 RefSeqGene

      Range
      74491..127569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256336.3NP_001243265.1  chromodomain-helicase-DNA-binding protein 1-like isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      X5D2E5
      Conserved Domains (5) summary
      PLN03142
      Location:16599
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd00046
      Location:15105
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd03331
      Location:616766
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      pfam00271
      Location:246359
      Helicase_C; Helicase conserved C-terminal domain
      pfam06936
      Location:546595
      Selenoprotein_S; Selenoprotein S (SelS)
    2. NM_001256337.3NP_001243266.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several exons in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1. Variants 4 and 12-22 all encode the same isoform (4).
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    3. NM_001256338.3NP_001243267.1  chromodomain-helicase-DNA-binding protein 1-like isoform 5

      See identical proteins and their annotated locations for NP_001243267.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks several exons in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC242426
      Consensus CDS
      CCDS58021.1
      UniProtKB/TrEMBL
      B4DLS6
      Related
      ENSP00000358263.3, ENST00000369259.4
      Conserved Domains (2) summary
      cd03331
      Location:512662
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:44495
      SNF2_N; SNF2 family N-terminal domain
    4. NM_001348451.2NP_001335380.1  chromodomain-helicase-DNA-binding protein 1-like isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 8, encodes isoform 6.
      Source sequence(s)
      AC241584, AC242426
      Consensus CDS
      CCDS91038.1
      UniProtKB/TrEMBL
      A0A0A0MSH9, X5D2E5
      Conserved Domains (2) summary
      cd03331
      Location:644794
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1627
      SNF2_N; SNF2 family N-terminal domain
    5. NM_001348452.2NP_001335381.1  chromodomain-helicase-DNA-binding protein 1-like isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variant 7, encodes isoform 6.
      Source sequence(s)
      AC242426
      Consensus CDS
      CCDS91038.1
      UniProtKB/TrEMBL
      A0A0A0MSH9, X5D2E5
      Related
      ENSP00000389031.3, ENST00000431239.6
      Conserved Domains (2) summary
      cd03331
      Location:644794
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1627
      SNF2_N; SNF2 family N-terminal domain
    6. NM_001348453.2NP_001335382.1  chromodomain-helicase-DNA-binding protein 1-like isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      X5D2E5
      Conserved Domains (2) summary
      cd03331
      Location:603753
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:2586
      SNF2_N; SNF2 family N-terminal domain
    7. NM_001348454.2NP_001335383.1  chromodomain-helicase-DNA-binding protein 1-like isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Consensus CDS
      CCDS91037.1
      UniProtKB/TrEMBL
      A0A0A0MRH8, B4DLS6
      Related
      ENSP00000355100.6, ENST00000361293.10
      Conserved Domains (2) summary
      cd03331
      Location:564714
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:45547
      SNF2_N; SNF2 family N-terminal domain
    8. NM_001348455.2NP_001335384.1  chromodomain-helicase-DNA-binding protein 1-like isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      cd03331
      Location:553703
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:2536
      SNF2_N; SNF2 family N-terminal domain
    9. NM_001348456.2NP_001335385.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 4 and 13-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    10. NM_001348457.2NP_001335386.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 4, 12, and 14-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    11. NM_001348458.2NP_001335387.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 4, 12-13, and 15-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    12. NM_001348459.2NP_001335388.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 4, 12-14, and 16-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    13. NM_001348460.2NP_001335389.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 4, 12-15, and 17-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    14. NM_001348461.2NP_001335390.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 4, 12-16, and 18-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    15. NM_001348462.2NP_001335391.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 4, 12-17, and 19-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    16. NM_001348463.2NP_001335392.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 4, 12-18, and 20-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    17. NM_001348464.2NP_001335393.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 4, 12-19 and 21-22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    18. NM_001348465.2NP_001335394.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 4, 12-20 and 22, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    19. NM_001348466.2NP_001335395.1  chromodomain-helicase-DNA-binding protein 1-like isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 4 and 12-21, encodes isoform 4.
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      B4DLS6
      Conserved Domains (2) summary
      PLN03142
      Location:1418
      PLN03142; Probable chromatin-remodeling complex ATPase chain; Provisional
      cd03331
      Location:435585
      Macro_Poa1p-like_SNF2; macrodomain, Poa1p-like family, SNF2 subfamily
    20. NM_004284.6NP_004275.4  chromodomain-helicase-DNA-binding protein 1-like isoform 1

      See identical proteins and their annotated locations for NP_004275.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC242426
      Consensus CDS
      CCDS927.1
      UniProtKB/Swiss-Prot
      A5YM64, B4DDE1, B5MDZ7, Q53EZ3, Q5VXX7, Q6DD94, Q6PK83, Q86WJ1, Q86XH3, Q96HF7, Q96SP3, Q9BVJ1, Q9NVV8
      UniProtKB/TrEMBL
      X5D2E5
      Related
      ENSP00000358262.4, ENST00000369258.8
      Conserved Domains (2) summary
      cd03331
      Location:716866
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:46699
      SNF2_N; SNF2 family N-terminal domain
    21. NM_024568.4NP_078844.2  chromodomain-helicase-DNA-binding protein 1-like isoform 3

      See identical proteins and their annotated locations for NP_078844.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 5' coding region which results in translation from a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1. Variants 3 and 9 both encode the same isoform (3).
      Source sequence(s)
      AC242426
      UniProtKB/TrEMBL
      X5D2E5
      Conserved Domains (2) summary
      cd03331
      Location:603753
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:2586
      SNF2_N; SNF2 family N-terminal domain

    RNA

    1. NR_046070.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay.(NMD).
      Source sequence(s)
      AC242426
      Related
      ENST00000467213.5
    2. NR_145681.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652161.1
    3. NR_145682.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000650721.1
    4. NR_145683.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000651410.1
    5. NR_145684.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000650828.1
    6. NR_145685.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
    7. NR_145686.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000651407.1
    8. NR_145687.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
    9. NR_145688.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
    10. NR_145689.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652616.1
    11. NR_145690.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652346.1
    12. NR_145691.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
    13. NR_145692.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652494.1
    14. NR_145693.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000488864.5
    15. NR_145694.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000652486.1
    16. NR_145695.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC242426
      Related
      ENST00000651207.1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      147172747..147295762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435001.1XP_047290957.1  chromodomain-helicase-DNA-binding protein 1-like isoform X1

    2. XM_024451051.2XP_024306819.1  chromodomain-helicase-DNA-binding protein 1-like isoform X2

      UniProtKB/TrEMBL
      A0A494C179
      Related
      ENSP00000498899.1, ENST00000652587.1
      Conserved Domains (2) summary
      cd03331
      Location:289439
      Macro_Poa1p_like_SNF2; Macro domain, Poa1p_like family, SNF2 subfamily. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ...
      cl26465
      Location:1272
      SNF2_N; SNF2 family N-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      147512572..147635662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339710.1XP_054195685.1  chromodomain-helicase-DNA-binding protein 1-like isoform X2

      UniProtKB/TrEMBL
      A0A494C179
    2. XM_054339709.1XP_054195684.1  chromodomain-helicase-DNA-binding protein 1-like isoform X1