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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SRCAP Gene

protein-coding GIFtS: 58
GCID: GC16P030710

Snf2-Related CREBBP Activator Protein

Microbiology & Infectious Diseases Congress

10 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Snf2-Related CREBBP Activator Protein¹ ²		FLHS²
Domino Homolog 2² ³		Helicase SRCAP²
SWR1² ⁵		Snf2-Related CBP Activator Protein²
KIAA0309³ ⁵		Swi2/Snf2-Related ATPase Homolog, Domino Homolog 1²
Domino Homolog 1 (Drosophila)¹		EC 3.6.4.-³
Swi2/Snf2-Related ATPase Homolog (S. Cerevisiae)¹		Snf2-Related CBP Activator³
DOMO1²		EC 3.6.1⁸
EAF1²

External Ids:	HGNC: 16974¹	Entrez Gene: 10847²	Ensembl: ENSG00000080603⁷	OMIM: 611421⁵	UniProtKB: Q6ZRS2³

Export aliases for SRCAP gene to outside databases

Previous GC identifers: GC16P030002 GC16P031203 GC16P030715 GC16P030754 GC16P030748 GC16P030622 GC16P028273

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SRCAP Gene:

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)

GeneCards Summary for SRCAP Gene:

SRCAP (Snf2-related CREBBP activator protein) is a protein-coding gene. Diseases associated with SRCAP include floating-harbor syndrome, and eaf. GO annotations related to this gene include transcription coactivator activity and helicase activity. An important paralog of this gene is EP400NL.

UniProtKB/Swiss-Prot: SRCAP_HUMAN, Q6ZRS2

Function: Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B

dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling.

Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and

Notch-mediated transcription

Gene Wiki entry for SRCAP Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NT_010393.16 NC_018927.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SRCAP gene promoter:
AhR AML1a C/EBPalpha HEN1 CREB deltaCREB Zic1 c-Myb Pax-4a ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SRCAP promoter sequence

Search SABiosciences Chromatin IP Primers for SRCAP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRCAP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p11.2

SRCAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRCAP gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P030710: view genomic region (about GC identifiers)

Start:	30,709,530 bp from pter	End:	30,755,602 bp from pter
Size:	46,073 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SRCAP_HUMAN, Q6ZRS2 (See protein sequence)

Recommended Name: Helicase SRCAP

Size: 3230 amino acids; 343555 Da

Subunit: Interacts with CREBBP and EP300. May be part of a complex containing SRCAP, CREBBP, CARM1 and GRIP1.

Component of the chromatin-remodeling SRCAP complex composed of at least SRCAP, DMAP1, RUVBL1, RUVBL2, ACTL6A,

YEATS4, VPS72, ACTR6 and ZNHIT1. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP,

BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with

hepatitis C virus (HCV) NS5A and human adenovirus 2 DBP

Subcellular location: Nucleus

Sequence caution: Sequence=AAI59100.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: B0JZA6 O15026 Q7Z744 Q9Y5L9

Alternative splicing: 3 isoforms: Q6ZRS2-1 Q6ZRS2-2 Q6ZRS2-3

Explore the universe of human proteins at neXtProt for SRCAP: NX_Q6ZRS2

Explore proteomics data for SRCAP at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q6ZRS2

4/12 DME Specific Peptides for SRCAP (Q6ZRS2) (see all 12)

TGTPLQN

LHKVLRP

GHRVLIF

RCHRIGQ

SRCAP Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_006653.2

ENSEMBL proteins:

ENSP00000405186 ENSP00000262518 ENSP00000369719 ENSP00000378499 ENSP00000343042

Human Recombinant Protein Products for SRCAP:

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	Cloud-Clone Corp. Proteins for SRCAP

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005794	Golgi apparatus	IDA	--
GO:0043234	protein complex	IDA	14966270

SRCAP for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/8 InterPro protein domains (see all 8):

IPR006562 HSA

IPR020478 AT_hook-like

IPR017956 AT_hook_DNA-bd_motif

IPR027417 P-loop_NTPase

IPR014012 Helicase/SANT-assoc_DNA-bd

Graphical View of Domain Structure for InterPro Entry Q6ZRS2

ProtoNet protein and cluster: Q6ZRS2

2 Blocks protein domains:

IPB000330 SNF2 related domain

IPB006562 HSA

UniProtKB/Swiss-Prot: SRCAP_HUMAN, Q6ZRS2

Similarity: Belongs to the SNF2/RAD54 helicase family. SWR1 subfamily

Similarity: Contains 3 A.T hook DNA-binding domains

Similarity: Contains 1 helicase ATP-binding domain

Similarity: Contains 1 helicase C-terminal domain

Similarity: Contains 1 HSA domain

SRCAP for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SRCAP_HUMAN, Q6ZRS2

Function: Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B

dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling.

Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and

Notch-mediated transcription

Biophysicochemical properties: Kinetic parameters: KM=66 uM for ATP;

Enzyme Numbers (IUBMB): EC 3.6.1² EC 3.6.4.-¹

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IEA	--
GO:0003713	transcription coactivator activity	TAS	10347196
GO:0004386	helicase activity	IEA	--
GO:0004402	histone acetyltransferase activity	TAS	10347196

SRCAP for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for SRCAP:

Downregulation of NF-kappaB pa

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for SRCAP

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SRCAP

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SRCAP

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SRCAP

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SRCAP
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate SRCAP (see all 12):
		hsa-miR-3679-3p hsa-miR-140-5p hsa-miR-4254 hsa-miR-200a hsa-miR-1297 hsa-miR-141 hsa-miR-9 hsa-miR-491-5p

		SwitchGear 3'UTR luciferase reporter plasmid: SRCAP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SRCAP
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRCAP

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SRCAP

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/22 Interacting proteins for SRCAP (Q6ZRS2^{2, 3} ENSP00000262518⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CREBBP	Q92793³, ENSP00000262367⁴	I2D: score=3 STRING: ENSP00000262367
DMAP1	Q9NPF5³, ENSP00000312697⁴	I2D: score=2 STRING: ENSP00000312697
RUVBL2	Q9Y230³, ENSP00000221413⁴	I2D: score=2 STRING: ENSP00000221413
ZNHIT1	O43257³, ENSP00000304593⁴	I2D: score=2 STRING: ENSP00000304593
AR	P10275³, ENSP00000363822⁴	I2D: score=1 STRING: ENSP00000363822

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	10347196
GO:0016573	histone acetylation	TAS	10347196
GO:0019048	modulation by virus of host morphology or physiology	IEA	--

SRCAP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SRCAP

Search CenterWatch for drugs/clinical trials and news about SRCAP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SRCAP gene:

NM_006662.2

Unigene Cluster for SRCAP:

Snf2-related CREBBP activator protein

Hs.620916 [show with all ESTs]

Unigene Representative Sequence: NM_006662

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000411466 ENST00000262518(uc002dze.1) ENST00000380361(uc002dzg.1 uc002dzf.3)

ENST00000483083 ENST00000474008 ENST00000395059(uc021tgn.1) ENST00000344771

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SRCAP
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate SRCAP (see all 12):
		hsa-miR-3679-3p hsa-miR-140-5p hsa-miR-4254 hsa-miR-200a hsa-miR-1297 hsa-miR-141 hsa-miR-9 hsa-miR-491-5p

		SwitchGear 3'UTR luciferase reporter plasmid: SRCAP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional mRNA sequence:

AB621816.1 AF143946.1 AK023808.1 AK025382.1 AK128030.1 BC025284.1 BC063578.1

18 DOTS entries:

DT.316808 DT.95293743 DT.95123715 DT.120714189 DT.95108207 DT.95117673 DT.70103663 DT.120714030

DT.99978807 DT.75159291 DT.92442126 DT.120714126 DT.120714229 DT.75198722 DT.95108206 DT.95148918

DT.102838761 DT.95328101

24/526 AceView cDNA sequences (see all 526):

AA332227 CR596608 BC025284 BM450784 BQ012700 BU629545 CR606272 NM_006662

BM543955 BQ947373 BU956811 AI096921 BF968845 BU542914 BE254291 BM725427

BC073882 BU541177 AA614301 BQ011142 BQ066373 CR593394 CA390324 BU178824

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SRCAP (see all 6) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^
SP1:
SP2:																																																	-
SP3:
SP4:
SP5:																	-

ExUns:	22a	·	22b	^	23	^	24	^	25	^	26	^	27	^	28a	·	28b	^	29a	·	29b	^	30	^	31a	·	31b	^	32	^	33	^	34
SP1:			-												-
SP2:			-												-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SRCAP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SRCAP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GAAATGGGGA

About this image

See SRCAP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SRCAP

SOURCE GeneReport for Unigene cluster: Hs.620916

SABiosciences Custom PCR Arrays for SRCAP

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SRCAP gene from 9/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Srcap^{1 , 5}	Snf2-related CREBBP activator protein^{1, 5}	86.63(n)¹ 88.07(a)¹		7 (69.56 cM)⁵ 100043597¹ XM_003084736.1¹ XP_003084784.1¹ 127565457⁵
lizard (Anolis carolinensis)	Reptilia	SRCAP⁶	Uncharacterized protein	67(a)	1 ↔ 1	GL343516.1(129011-143879)
African clawed frog (Xenopus laevis)	Amphibia	Xl.15109²	Xenopus laevis transcribed sequence with weak similarity more	76.85(n)		CF284107.1
zebrafish (Danio rerio)	Actinopterygii	SRCAP⁶	Snf2-related CREBBP activator protein	32(a)	1 ↔ 1	12(28635939-28661697)
fruit fly (Drosophila melanogaster)	Insecta	dom³	gene silencing helicase	71(a)		--
worm (Caenorhabditis elegans)	Secernentea	Y111B2A.23³	--	53(a)		III(12786231-12800283) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	SWR1(YDR334W)⁴	Swi2/Snf2-related ATPase that is the structural component more	--		4(1135932-1140476) 851934 NP_010621.1
thale cress (Arabidopsis thaliana)	eudicotyledons	PIE1¹	helicase SWR1	52.76(n) 48.52(a)		820463 NM_112117.4 NP_187887.3
rice (Oryza sativa)	Liliopsida	Os02g0689800¹	hypothetical protein	53.67(n) 48(a)		4330371 NM_001054321.1 NP_001047786.2

ENSEMBL Gene Tree for SRCAP (if available)
TreeFam Gene Tree for SRCAP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SRCAP gene

EP400NL² EP400²

3 SIMAP similar genes for SRCAP using alignment to 4 protein entries: SRCAP_HUMAN (see all proteins):

SMARCA5 HELLS ATRX

SRCAP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199469465^1,2	C	pathogenic¹	31749565(+)	`GGGAGC/TGAGTT`	2	R *	stg¹		0	--	--	--	--
rs199469464^1,2	C	pathogenic¹	31749592(+)	`GGCCTC/TGACCC`	2	R *	stg¹		0	--	--	--	--
rs112323860^1,2	C,F	--	30713300(+)	`AGATGG/CAGTCT`	1	--	int¹		1		WA	2
rs112151754^1,2	C,F	--	30713378(+)	`CAAACG/AATTCT`	1	--	int¹		1		WA	2
rs11319708^1,2	C,F	--	30715218(+)	`AAAAAA/-TAAAA`	1	--	int¹		2		NA CSA	4
rs112866628^1,2	C,F	--	30717086(+)	`GCAGTG/AGCATG`	1	--	int¹		1		WA	2
rs34824568^1,2	C	--	30725221(-)	`GTCTCA/-AAAAA`	1	--	int¹		2		NA	4
rs73538407^1,2	C,F	--	30725819(+)	`GCCACC/TGTGCC`	1	--	int¹		1		WA	2
rs56294311^1,2	C	--	30730540(+)	`TATTT-/A/A T/ATTTTTATT`	1	--	int¹		1		NA	2
rs71149048^1,2	C	--	30730544(+)	`TTTTA-/TTTTTT`	1	--	int¹		2		NA CSA	4

HapMap Linkage Disequilibrium report for SRCAP (30709530 - 30755602 bp)

Structural Variations
Database of Genomic Variants (DGV) 6 variations for SRCAP: About this table

Variant ID	Type	Subtype	PubMed ID
nsv1785	CNV	Insertion	18451855
nsv905729	CNV	Loss	21882294
nsv469724	CNV	Loss	16826518
esv33681	CNV	Loss	17666407
nsv905728	CNV	Loss	21882294
nsv833188	CNV	Loss	17160897

Human Gene Mutation Database (HGMD): SRCAP

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 611421 OMIM disorders: --

UniProtKB/Swiss-Prot: SRCAP_HUMAN, Q6ZRS2

Floating-Harbor syndrome (FLHS) [MIM:136140]: A rare genetic disorder characterized by proportionate

short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular

with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. Note=The disease

is caused by mutations affecting the gene represented in this entry

10 diseases for SRCAP: About MalaCards

floating-harbor syndrome eaf rubinstein-taybi syndrome short stature

prostate cancer, progression of hepatitis c pneumonia hepatitis

prostate cancer prostatitis

1 disease from the University of Copenhagen DISEASES database for SRCAP:

Rubinstein-Taybi syndrome

SRCAP for disorders About GeneDecksing

Export disorders for SRCAP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SRCAP gene, integrated from 9 sources (see all 53):
(articles sorted by number of sources associating them with SRCAP)

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world of online information

Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein. (PubMed id 10347196)^{1, 2, 3, 9} Johnston H.... Chrivia J. (1999)
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)^{1, 2, 3} Nagase T.... Ohara O. (1997)
SNF2-related CBP activator protein (SRCAP) functions as a coactivator of steroid receptor-mediated transcription through synergistic interactions with CARM-1 and GRIP-1. (PubMed id 14500758)^{1, 2, 9} Monroy M.A.... Chrivia J.C. (2003)
Adenovirus DNA binding protein interacts with the SNF2-related CBP activator protein (SrCap) and inhibits SrCap-mediated transcription. (PubMed id 11581372)^{1, 2, 9} Xu X.... Yaciuk P. (2001)
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. (PubMed id 22265015)^{1, 2} Hood R.L.... Boycott K.M. (2012)
The chromatin remodeling protein, SRCAP, is critical for deposition of the histone variant H2A.Z at promoters. (PubMed id 17617668)^{1, 2} Wong M.M.... Chrivia J.C. (2007)
Purification of a human SRCAP complex that remodels chromatin by incorporating the histone variant H2A.Z into nucleosomes. (PubMed id 16634648)^{1, 2} Ruhl D.D.... Chrivia J.C. (2006)
Human SRCAP and Drosophila melanogaster DOM are homologs that function in the notch signaling pathway. (PubMed id 16024792)^{1, 2} Eissenberg J.C.... Chrivia J.C. (2005)
The mammalian YL1 protein is a shared subunit of the TRRAP/TIP60 histone acetyltransferase and SRCAP complexes. (PubMed id 15647280)^{1, 2} Cai Y.... Conaway J.W. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10847	HGNC: 16974	AceView: PHKG2andSRCAP	Ensembl:ENSG00000080603	euGenes: HUgn10847
ECgene: SRCAP	H-InvDB: SRCAP

(According to HUGE)
About This Section

HUGE: KIAA0309

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SRCAP	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SRCAP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SRCAP gene:
Search GeneIP for patents involving SRCAP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Snf2-Related CREBBP Activator Protein

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Snf2-Related CREBBP Activator Protein

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