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

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: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (30699171..30741409)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (31086152..31128418)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (30710492..30752730)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SRCAP mutations drive clonal hematopoiesis through epigenetic and DNA repair dysregulation.
Title: SRCAP mutations drive clonal hematopoiesis through epigenetic and DNA repair dysregulation.
LINC00665 sponges miR-641 to promote the progression of breast cancer by targeting the SNF2-related CREBBP activator protein (SRCAP).
Title: LINC00665 sponges miR-641 to promote the progression of breast cancer by targeting the SNF2-related CREBBP activator protein (SRCAP).
Cancer-related SRCAP and TPR mutations in colon cancers.
Title: Cancer-related SRCAP and TPR mutations in colon cancers.
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
Title: Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Title: Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
cryo-EM structure of human SRCAP complex
Title: Cryo-EM structure of human SRCAP complex.
Data show that PCI domain-containing protein 2 (Pcid2) controls lymphoid lineage commitment through the regulation of Snf2-related CREBBP activator protein (SRCAP) remodelling activity.
Title: Suppression of SRCAP chromatin remodelling complex and restriction of lymphoid lineage commitment by Pcid2.
Alterative hypotheses to explain how the Srcap truncating mutations lead to the onset of Floating-Harbor syndrome are presented.
Title: When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.
Data confirm a mutational hot spot in the final exon of SRCAP in the majority of Floating-Harbor syndrome patients but also show that exon 33 of this gene can be affected.
Title: Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
This study implicates the human SRCAP chromatin remodeling complex as a novel regulator of DNA damage responses that orchestrates proper signaling and repair of DSBs in the context of chromatin.
Title: The human SRCAP chromatin remodeling complex promotes DNA-end resection.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MedGen: C5562012 OMIM: 619595 GeneReviews: Not available	Compare labs
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC277710P1 (e-PCR)
- UniSTS:272388

RH65286 (e-PCR)
- UniSTS:88991

RH92880 (e-PCR)
- UniSTS:85681

RH18347 (e-PCR)
- UniSTS:84696

SRCAP_3778 (e-PCR)
- UniSTS:462570

SHGC-58827 (e-PCR)
- UniSTS:94461

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 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

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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

NG_032135.2 RefSeqGene

Range

5002..47240

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006662.3 → NP_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:2170 → 2362

PTZ00121; MAEBL; Provisional

PHA03247
Location:1366 → 1834

PHA03247; large tegument protein UL36; Provisional

PRK04863
Location:2253 → 2344

mukB; chromosome partition protein MukB

cd18793
Location:2032 → 2167

SF2_C_SNF; C-terminal helicase domain of the SNF family helicases

cd18003
Location:618 → 840

DEXQc_SRCAP; DEXH/Q-box helicase domain of SRCAP

pfam07529
Location:127 → 196

HSA