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SRCAP Gene

protein-coding GIFtS: 59
GCID: GC16P030710

Snf2-Related CREBBP Activator Protein

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

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, GeneCards, 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000016.9 NC_018927.2 NT_187260.1

Regulatory elements:

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 Chromatin IP Primers for SRCAP

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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

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:

Ubiquitination² at Lys752

Glycosylation² at Ser2416

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for SRCAP (Q6ZRS2) (see all 12)

TGTPLQN

LHKVLRP

GHRVLIF

RCHRIGQ

See SRCAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006653.2

ENSEMBL proteins:

ENSP00000405186 ENSP00000262518 ENSP00000369719 ENSP00000378499 ENSP00000343042

SRCAP Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for SRCAP
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	Search GeneTex for Proteins for SRCAP
	Search antibodies-online for proteins for SRCAP
	Search antibodies-online for peptides for SRCAP

SRCAP Antibody Products:

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	Novus Biologicals SRCAP Antibody
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	antibodies-online antibodies for SRCAP (16 products)

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	antibodies-online kits for SRCAP (2 products)

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

Selected InterPro protein domains (see all 7):

IPR020478 AT_hook-like

IPR017956 AT_hook_DNA-bd_motif

IPR027417 P-loop_NTPase

IPR014012 Helicase/SANT-assoc_DNA-bd

IPR000330 SNF2_N

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

Find genes that share domains with SRCAP About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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): Selected molecular function terms (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

Find genes that share ontologies with SRCAP About GenesLikeMe

Phenotypes:
3 GenomeRNAi human phenotypes for SRCAP:

Downregulation of NF-kappaB pa

Increased gamma-H2AX phosphory

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for SRCAP

miRNA Products:		miRTarBase miRNAs that target SRCAP: hsa-mir-296-3p (MIRT038471), hsa-let-7b-5p (MIRT051910), hsa-mir-744-5p (MIRT037418), hsa-mir-27b-3p (MIRT046182), hsa-mir-484 (MIRT041967), hsa-mir-615-3p (MIRT040165), hsa-mir-877-3p (MIRT036817), hsa-let-7c-5p (MIRT051752), hsa-mir-194-5p (MIRT044873), hsa-mir-197-3p (MIRT048104), hsa-mir-1229-3p (MIRT036303), hsa-mir-320a (MIRT044623), hsa-mir-130b-5p (MIRT038290), hsa-mir-17-3p (MIRT050747)

		Block miRNA regulation of human, mouse, rat SRCAP using miScript Target Protectors
		Selected qRT-PCR 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

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRCAP

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

SRCAP_HUMAN, Q6ZRS2: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
golgi apparatus	4
cytosol	1

About this image

Gene Ontology (GO): 3 cellular component terms: 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

Find genes that share ontologies with SRCAP About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to 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 GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for SRCAP
Interactions:

GeneGlobe Interaction Network for SRCAP

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for SRCAP (Q6ZRS2^{2, 3} ENSP00000262518⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 283)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATG9A	Q7Z3C6³, ENSP00000355173⁴	I2D: score=3 STRING: ENSP00000355173
CARM1	Q86X55³, ENSP00000325690⁴	I2D: score=3 STRING: ENSP00000325690
CREBBP	Q92793³, ENSP00000262367⁴	I2D: score=3 STRING: ENSP00000262367
DMAP1	Q9NPF5³, ENSP00000312697⁴	I2D: score=2 STRING: ENSP00000312697
NCOR1	O75376³, ENSP00000268712⁴	I2D: score=2 STRING: ENSP00000268712

About this table

Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-templated	IEA	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	10347196
GO:0016032	viral process	IEA	--
GO:0016573	histone acetylation	TAS	10347196
GO:0019048	modulation by virus of host morphology or physiology	--	--

Find genes that share ontologies with SRCAP About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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

miRNA Products:		Block miRNA regulation of human, mouse, rat SRCAP using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for SRCAP
		Predesigned siRNA for gene silencing in human, mouse, rat SRCAP

Clone Products:		OriGene clones in human, mouse for SRCAP (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SRCAP (NM_006662)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SRCAP
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SRCAP

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for SRCAP
		Pre-validated RT² qPCR Primer Assay in human, mouse / rat SRCAP
		QuantiTect SYBR Green Assays in human, mouse, rat SRCAP
		QuantiFast Probe-based Assays in human, mouse, rat SRCAP

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

Selected AceView cDNA sequences (see all 526):

AW275138 NM_006662 AA912008 BE280882 BU178824 BM922293 BU956811 BM725427

BC073882 CR593394 BU541177 AA614301 BQ011142 BQ947373 CR598568 BQ279041

BE254291 AA419088 BQ935547 BQ691515 BM700215 BX487710 BM724438 H09771

GeneLoc Exon Structure

Selected 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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, 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

SRCAP Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SRCAP Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.620916

Custom PCR Arrays for SRCAP

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for SRCAP
		Pre-validated RT² qPCR Primer Assay in human, mouse / rat SRCAP
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		QuantiFast Probe-based Assays in human, mouse, rat SRCAP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRCAP

(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 animals and fungi.

Orthologs for SRCAP gene from Selected species (see all 16) 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}	87.43(n)¹ 89.63(a)¹		7 (69.56 cM)⁵ 100043597¹ XM_006508426.1¹ XP_006508489.1¹ 127511983⁵
lizard (Anolis carolinensis)	Reptilia	SRCAP⁶	Snf2-related CREBBP activator protein	69(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	33(a)	1 ↔ 1	12(28632751-28663317) ENSDARG00000005236
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

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,Sets of similar genes according to GenesLikeMe)
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

Find genes that share paralogs with SRCAP About GenesLikeMe

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing SRCAP

DNA2.0 Custom Variant and Variant Library Synthesis for SRCAP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 611421
OMIM disorders: 136140
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

4 diseases for SRCAP:
About MalaCards

floating-harbor syndrome eaf rubinstein-taybi syndrome short stature

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

Rubinstein-Taybi syndrome

Find genes that share disorders with SRCAP About GenesLikeMe

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 10 sources (see all 54):
(articles sorted by number of sources associating them with SRCAP)

Utopia: connect your pdf to the dynamic
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. (J. Biol. Chem. 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. (DNA Res. 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. (Mol. Endocrinol. 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. (J. Virol. 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. (Am. J. Hum. Genet. 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. (J. Biol. Chem. 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. (Biochemistry 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. (Mol. Cell. Biol. 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. (J. Biol. Chem. 2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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Snf2-Related CREBBP Activator Protein

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Snf2-Related CREBBP Activator Protein

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