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

    Gene ID: 10847, updated on 5-May-2024

    Summary

    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; AllianceGenome:HGNC:16974
    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; DEHMBA
    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]
    Expression
    Ubiquitous expression in testis (RPKM 12.4), spleen (RPKM 11.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SRCAP in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30699171..30741409)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31086152..31128418)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30710492..30752730)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30688172-30689072 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30689073-30689972 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30689973-30690873 Neighboring gene RNA, U6 small nuclear 416, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30693026-30693526 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30697048-30697206 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:30705076-30705670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7389 Neighboring gene Sharpr-MPRA regulatory region 39 Neighboring gene uncharacterized LOC730183 Neighboring gene RNA, U6 small nuclear 1043, pseudogene Neighboring gene small nucleolar RNA, H/ACA box 30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30749504-30750051 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:30752251-30753450 Neighboring gene transmembrane protein 265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7392 Neighboring gene phosphorylase kinase catalytic subunit gamma 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:30771308-30772507 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30772706-30772935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30773347-30773984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30775098-30775598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30775599-30776099 Neighboring gene cilia and flagella associated protein 119 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30780568-30780764 Neighboring gene ring finger protein 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30785886-30786564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30786565-30787241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10727

    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
    Triplosensitivity

    No evidence available (Last evaluated 2018-05-31)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2018-05-31)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ44499, KIAA0309

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP-dependent chromatin remodeler activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone acetyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    part_of Swr1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    part_of nucleosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    helicase SRCAP
    Names
    Snf2-related CBP activator protein
    Swi2/Snf2-related ATPase homolog, domino homolog 1
    domino homolog 2

    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_032135.2 RefSeqGene

      Range
      5002..47240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006662.3NP_006653.2  helicase SRCAP

      See identical proteins and their annotated locations for NP_006653.2

      Status: REVIEWED

      Source sequence(s)
      AC093249, AC106886
      Consensus CDS
      CCDS10689.2
      UniProtKB/Swiss-Prot
      B0JZA6, O15026, Q6ZRS2, Q7Z744, Q9Y5L9
      UniProtKB/TrEMBL
      A0A0C4DFX4
      Related
      ENSP00000262518.4, ENST00000262518.9
      Conserved Domains (6) summary
      PTZ00121
      Location:21702362
      PTZ00121; MAEBL; Provisional
      PHA03247
      Location:13661834
      PHA03247; large tegument protein UL36; Provisional
      PRK04863
      Location:22532344
      mukB; chromosome partition protein MukB
      cd18793
      Location:20322167
      SF2_C_SNF; C-terminal helicase domain of the SNF family helicases
      cd18003
      Location:618840
      DEXQc_SRCAP; DEXH/Q-box helicase domain of SRCAP
      pfam07529
      Location:127196
      HSA

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30699171..30741409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31086152..31128418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)