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

Gene ID: 10847, updated on 3-Mar-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
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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 
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)

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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_032135.2 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)