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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
  See related diseases
at  

(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 plasmidSRCAP 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 

    SRCAP Protein Expression
    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 IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0043234protein complex IDA14966270

    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 IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003713transcription coactivator activity TAS10347196
    GO:0004386helicase activity IEA--
    GO:0004402histone acetyltransferase activity TAS10347196
         
    SRCAP for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SRCAP:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SRCAP 
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate SRCAP (see all 12):
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    SwitchGear 3'UTR luciferase reporter plasmidSRCAP 3' UTR sequence
    Inhib. RNA
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    (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 CentralTM 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 (Q6ZRS22, 3 ENSP000002625184) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREBBPQ927933, ENSP000002623674I2D: score=3 STRING: ENSP00000262367
    DMAP1Q9NPF53, ENSP000003126974I2D: score=2 STRING: ENSP00000312697
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=2 STRING: ENSP00000221413
    ZNHIT1O432573, ENSP000003045934I2D: score=2 STRING: ENSP00000304593
    ARP102753, ENSP000003638224I2D: score=1 STRING: ENSP00000363822
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS10347196
    GO:0016573histone acetylation TAS10347196
    GO:0019048modulation 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
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    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 plasmidSRCAP 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SRCAP
      QIAGEN 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 

    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
    SRCAP Expression
    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:
     

     
    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 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 Srcap1 , 5 Snf2-related CREBBP activator protein1, 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 to protein refNP_006653.1 (H.sapiens) Snf2-related CBP activator protein [Homo sapiens] less 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 of the SWR1 complex, which exchanges histone variant H2AZ (Htz1p) for chromatin-bound histone H2A less   --   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

    10/1100 SNPs in SRCAP are shown (see all 1100)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994694651,2
    Cpathogenic131749565(+) GGGAGC/TGAGTT 2 R * stg10--------
    rs1994694641,2
    Cpathogenic131749592(+) GGCCTC/TGACCC 2 R * stg10--------
    rs1123238601,2
    C,F--30713300(+) AGATGG/CAGTCT 1 -- int11Minor allele frequency- C:0.50WA 2
    rs1121517541,2
    C,F--30713378(+) CAAACG/AATTCT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs113197081,2
    C,F--30715218(+) AAAAAA/-TAAAA 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs1128666281,2
    C,F--30717086(+) GCAGTG/AGCATG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs348245681,2
    C--30725221(-) GTCTCA/-AAAAA 1 -- int12Minor allele frequency- -:0.25NA 4
    rs735384071,2
    C,F--30725819(+) GCCACC/TGTGCC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs562943111,2
    C--30730540(+) TATTT-/A/A   
      T
    /ATTT
    TTATT
    1 -- int11NA 2
    rs711490481,2
    C--30730544(+) TTTTA-/TTTTTT 1 -- int12Minor allele frequency- T:0.00NA 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 IDTypeSubtypePubMed ID
    nsv1785CNV Insertion18451855
    nsv905729CNV Loss21882294
    nsv469724CNV Loss16826518
    esv33681CNV Loss17666407
    nsv905728CNV Loss21882294
    nsv833188CNV Loss17160897


    Human Gene Mutation Database (HGMD): SRCAP
    SABiosciences Cancer Mutation 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, 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)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)
    About This Section
     ANDOR
    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
    NameDescription
    PharmGKB entry for SRCAP Pharmacogenomics, SNPs, Pathways

    (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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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