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

Gene ID: 10847, updated on 11-Sep-2019

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
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]
Expression
Ubiquitous expression in testis (RPKM 12.4), spleen (RPKM 11.6) and 25 other tissues See more
Orthologs

Genomic context

See SRCAP in Genome Data Viewer
Location:
16p11.2
Exon count:
34
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30699171..30741409)
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 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 transmembrane protein 265 Neighboring gene phosphorylase kinase catalytic subunit gamma 2 Neighboring gene coiled-coil domain containing 189 Neighboring gene ring finger protein 40 Neighboring gene zinc finger protein 629

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

Associated conditions

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

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 BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44499, KIAA0309

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
histone binding IBA
Inferred from Biological aspect of Ancestor
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
ATP-dependent chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gene silencing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone acetylation IEA
Inferred from Electronic Annotation
more info
 
histone exchange IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Swr1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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-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)

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_006662.3NP_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
    Q6ZRS2
    Related
    ENSP00000262518.4, ENST00000262518.9
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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