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

Gene ID: 10847, updated on 12-Apr-2014
Official Symbol
SRCAPprovided by HGNC
Official Full Name
Snf2-related CREBBP activator proteinprovided by HGNC
Primary source
HGNC:16974
See related
Ensembl:ENSG00000080603; HPRD:18103; 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]
Location :
16p11.2
Sequence :
Chromosome: 16; NC_000016.10 (30699141..30740129)
See SRCAP in Epigenomics, MapViewer

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene fibrosin Neighboring gene uncharacterized LOC730183 Neighboring gene small nucleolar RNA, H/ACA box 30 Neighboring gene uncharacterized LOC100862671 Neighboring gene phosphorylase kinase, gamma 2 (testis) Neighboring gene chromosome 16 open reading frame 93

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)

ISCA Genome Curation Page
Triplosensitivity

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

ISCA Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
histone acetylation TAS
Traceable Author Statement
more info
PubMed 
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
 
nucleus IDA
Inferred from Direct Assay
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
helicase SRCAP
Names
helicase SRCAP
domino homolog 2
Snf2-related CBP activator protein
Swi2/Snf2-related ATPase homolog, domino homolog 1

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 proteins identical to NP_006653.2

    Status: REVIEWED

    Source sequence(s)
    AC106886, AK128030, AU140541, BM677852, DA109400
    Consensus CDS
    CCDS10689.2
    UniProtKB/Swiss-Prot
    Q6ZRS2
    Related
    ENSP00000262518, OTTHUMP00000163226, ENST00000262518, OTTHUMT00000255523
    Conserved Domains (5) summary
    pfam11914
    Location:13771460
    Blast Score: 89
    DUF3432; Domain of unknown function (DUF3432)
    cd00046
    Location:638777
    Blast Score: 247
    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.
    cd00079
    Location:20362164
    Blast Score: 288
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:621907
    Blast Score: 842
    SNF2_N; SNF2 family N-terminal domain
    pfam07529
    Location:125196
    Blast Score: 253
    HSA; HSA

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38 Primary Assembly

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

Alternate HuRef

Genomic

  1. AC_000148.1 Alternate HuRef

    Range
    28273194..28314260
    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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