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

Gene ID: 10847, updated on 17-Oct-2021

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
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Genomic context

See SRCAP in Genome Data Viewer
Location:
16p11.2
Exon count:
34
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30699171..30741409)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30710492..30752730)

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 cilia and flagella associated protein 119 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
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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

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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
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
PubMed 
involved_in histone acetylation IEA
Inferred from Electronic Annotation
more info
 
involved_in histone exchange IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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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 (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: Homo sapiens Updated Annotation Release 109.20210514

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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