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    SRCAP Snf2 related CREBBP activator protein [ Homo sapiens (human) ]

    Gene ID: 10847, updated on 8-Oct-2017
    Official Symbol
    SRCAPprovided by HGNC
    Official Full Name
    Snf2 related CREBBP activator proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16974
    See related
    Ensembl:ENSG00000080603 MIM:611421; Vega:OTTHUMG00000132393
    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
    EAF1; FLHS; SWR1; DOMO1
    Summary
    This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
    Orthologs
    Location:
    16p11.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (30699141..30740129)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30709571..30751450)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 416, pseudogene Neighboring gene uncharacterized LOC730183 Neighboring gene RNA, U6 small nuclear 1043, pseudogene Neighboring gene small nucleolar RNA, H/ACA box 30 Neighboring gene transmembrane protein 265 Neighboring gene phosphorylase kinase catalytic subunit gamma 2 Neighboring gene coiled-coil domain containing 189

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Floating-Harbor syndrome
    MedGen: C0729582 OMIM: 136140 GeneReviews: Floating-Harbor Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2013-11-21)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2013-11-21)

    ClinGen Genome Curation Page
    • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
      Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ44499, KIAA0309

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    histone acetyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    helicase SRCAP
    Names
    Snf2-related CBP activator protein
    Swi2/Snf2-related ATPase homolog, domino homolog 1
    domino homolog 2

    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_032135.1 RefSeqGene

      Range
      5001..45989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006662.2NP_006653.2  helicase SRCAP

      See identical proteins and their annotated locations for NP_006653.2

      Status: REVIEWED

      Source sequence(s)
      AC106886, AK128030, AU140541, BM677852, DA109400
      Consensus CDS
      CCDS10689.2
      UniProtKB/Swiss-Prot
      Q6ZRS2
      Related
      ENSP00000262518.4, OTTHUMP00000163226, ENST00000262518.8, OTTHUMT00000255523
      Conserved Domains (7) summary
      cd00046
      Location:638777
      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.
      pfam00176
      Location:621907
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:20422156
      Helicase_C; Helicase conserved C-terminal domain
      pfam07529
      Location:127196
      HSA; HSA
      pfam11914
      Location:13871480
      DUF3432; Domain of unknown function (DUF3432)
      pfam15741
      Location:14151699
      LRIF1; Ligand-dependent nuclear receptor-interacting factor 1
      cl23750
      Location:22312352
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      30699141..30740129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      32027658..32068682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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