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SH3BP1 Gene

protein-coding   GIFtS: 52
GCID: GC22P038030

SH3-Domain Binding Protein 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SH3-Domain Binding Protein 11 2
3BP-12 3
ARHGAP432
SH3 Domain Binding Protein 12
SH3 Domain-Binding Protein 12

External Ids:    HGNC: 108241   Entrez Gene: 236162   Ensembl: ENSG000001000927   UniProtKB: Q9Y3L33   

Export aliases for SH3BP1 gene to outside databases

Previous GC identifers: GC22P034651 GC22P036280 GC22P036278 GC22P036361 GC22P021002


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SH3BP1 Gene:
SH3BP1 (SH3-domain binding protein 1) is a protein-coding gene. GO annotations related to this gene include SH3 domain binding and GTPase activator activity. An important paralog of this gene is ARHGAP5.

UniProtKB/Swiss-Prot: 3BP1_HUMAN, Q9Y3L3
Function: Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. This
protein binds preferentially to the ABL1 proto-oncogene, SRC and GRB2. Shows GAP activity for Rac-related
proteins but not for Rho- or Ras-related proteins. It inhibits PDGF-induced membrane ruffling mediated by Rac (By
similarity)

Gene Wiki entry for SH3BP1 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH3BP1 gene promoter:
         NF-1   NF-1/L   p53   Egr-1   Nkx2-5   GATA-2   YY1   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3BP1 promoter sequence
   Search Chromatin IP Primers for SH3BP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3BP1


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

SH3BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3BP1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P038030:  view genomic region     (about GC identifiers)

Start:
38,030,661 bp from pter      End:
38,062,939 bp from pter
Size:
32,279 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, and/or antibodies-online,
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.)
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UniProtKB/Swiss-Prot: 3BP1_HUMAN, Q9Y3L3 (See protein sequence)
Recommended Name: SH3 domain-binding protein 1  
Size: 701 amino acids; 75713 Da
Sequence caution: Sequence=AAH08282.1; Type=Erroneous initiation; Sequence=BAC85842.1; Type=Erroneous initiation;
Sequence=BAC85842.1; Type=Erroneous termination; Positions=56; Note=Translated as Cys;
Secondary accessions: Q5R3N0 Q6IBZ2 Q6ZVL9 Q96HQ5 Q9NSQ9
Alternative splicing: 2 isoforms:  Q9Y3L3-1   Q9Y3L3-2   

Explore the universe of human proteins at neXtProt for SH3BP1: NX_Q9Y3L3

Explore proteomics data for SH3BP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH3BP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061830.3  
    ENSEMBL proteins: 
     ENSP00000411979   ENSP00000350018   ENSP00000401076   ENSP00000395126   ENSP00000337213  
     ENSP00000470417  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARHGAP: Rho GTPase activating proteins

    4 InterPro protein domains:
     IPR027267 AH/BAR-dom
     IPR008936 Rho_GTPase_activation_prot
     IPR004148 BAR_dom
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y3L3

    ProtoNet protein and cluster: Q9Y3L3

    1 Blocks protein domain: IPB000198 RhoGAP domain

    UniProtKB/Swiss-Prot: 3BP1_HUMAN, Q9Y3L3
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 Rho-GAP domain


    Find genes that share domains with SH3BP1           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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 3BP1_HUMAN, Q9Y3L3
    Function: Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. This
    protein binds preferentially to the ABL1 proto-oncogene, SRC and GRB2. Shows GAP activity for Rac-related
    proteins but not for Rho- or Ras-related proteins. It inhibits PDGF-induced membrane ruffling mediated by Rac (By
    similarity)

         Genatlas biochemistry entry for SH3BP1:
    SH3-domain binding protein 1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0017124SH3 domain binding IEA--
         
    Find genes that share ontologies with SH3BP1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SH3BP1

    miRNA
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    miRTarBase miRNAs that target SH3BP1:
    hsa-mir-335-5p (MIRT017165), hsa-mir-26b-5p (MIRT029059)

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    SwitchGear 3'UTR luciferase reporter plasmidSH3BP1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with SH3BP1           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 GeneDecks, 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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SH3BP1
    Interactions:

        Search GeneGlobe Interaction Network for SH3BP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for SH3BP1 (Q9Y3L32, 3 ENSP000003500184) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-7213758 I2D: score=3 STRING: ENSP00000361423
    CRKP461083, ENSP000003005744I2D: score=3 STRING: ENSP00000300574
    HCKP086313, ENSP000003650124I2D: score=3 STRING: ENSP00000365012
    RHOAP615863, ENSP000004001754I2D: score=2 STRING: ENSP00000400175
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IEA--

    Find genes that share ontologies with SH3BP1           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SH3BP1 (3BP1)



    (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 )
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    REFSEQ mRNAs for SH3BP1 gene: 
    NM_018957.3  

    Unigene Cluster for SH3BP1:

    SH3-domain binding protein 1
    Hs.601143  [show with all ESTs]
    Unigene Representative Sequence: AK124370
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417536(uc003atg.1 uc011anl.1 uc003ath.1) ENST00000357436(uc003ati.3)
    ENST00000451997(uc003atj.1) ENST00000469947(uc003atk.1) ENST00000495174
    ENST00000471650 ENST00000459646 ENST00000466097 ENST00000442465 ENST00000336738
    ENST00000599616
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    hsa-miR-31 hsa-miR-4328 hsa-miR-3613-3p hsa-miR-145 hsa-miR-32* hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidSH3BP1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat SH3BP1
      QuantiFast Probe-based Assays in human, mouse, rat SH3BP1

    Additional mRNA sequence: 

    AK124370.1 AK126556.1 AK301163.1 AL157480.1 AY364241.1 BC008282.1 CR456576.1 

    9 DOTS entries:

    DT.433857  DT.95307361  DT.97864103  DT.97818332  DT.100047168  DT.120664702  DT.100778273  DT.100835803 
    DT.95368350 

    Selected AceView cDNA sequences (see all 335):

    BF512253 W32039 CR593618 AA379151 AA563645 BF221496 BC000320 BQ051565 
    CR617653 BC008282 H55465 CR618685 BX465098 CR615489 BM826513 BG683228 
    BM909859 AI280211 BM695047 CR615223 BQ923764 N28254 CR601934 BG683314 

    GeneLoc Exon Structure


    (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™, 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)
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    SH3BP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SH3BP1 Expression
    About this image


    SH3BP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    SH3BP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3BP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.601143
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SH3BP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3bp11 , 5 SH3-domain binding protein 11, 5 85.14(n)1
    86.64(a)1
      15 (37.70 cM)5
    204011  NM_009164.21  NP_033190.21 
     788996675 
    chicken
    (Gallus gallus)
    Aves SH3BP11 SH3-domain binding protein 1 69.64(n)
    66.49(a)
      430939  XM_428489.4  XP_428489.3 
    lizard
    (Anolis carolinensis)
    Reptilia SH3BP16
    SH3-domain binding protein 1
    60(a)
    1 ↔ 1
    5(23763434-23795822)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sh3bp11 SH3-domain binding protein 1 56.98(n)
    49.66(a)
      101733422  XM_004913886.1  XP_004913943.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.20712 Danio rerio cDNA clone MGC56011 IMAGE3819817, complete more 70.09(n)    AY391472.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGAP92B3 GTPase activator 28(a)   92B6   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y34B4A.86
    Protein Y34B4A.8, isoform b
    22(a)
    1 → many
    X(5271843-5275282) WBGene00021324


    ENSEMBL Gene Tree for SH3BP1 (if available)
    TreeFam Gene Tree for SH3BP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3BP1 gene
    ARHGAP52  ARHGAP172  SRGAP12  ARHGAP242  ARHGAP222  SRGAP32  ARHGAP352  ARHGAP442  
    ARHGAP252  SRGAP22  ARHGAP42  
    Selected SIMAP similar genes for SH3BP1 using alignment to 5 protein entries:     3BP1_HUMAN (see all proteins) (see all similar genes):
    PDXP    DOCK8    KIAA1651    ARL6IP5    ZNF799    RRM2B
    PARK2    SH2B3    RPS6KA5    ZNF114    C1orf143    EEF1E1
    ATL2    COQ5    TUBA1C    ADCK1    DYNC2LI1    PFKFB3

    Find genes that share paralogs with SH3BP1           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)
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    Selected SNPs for SH3BP1 (see all 498)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1916776351,2
    --38033700(+) CTAAGA/GAACAG 1 -- us2k10--------
    rs587526811,2
    C,F--38033831(+) AATCCA/G/TACTCA 1 -- us2k12WA 120
    rs1385644951,2
    C--38033834(+) CCGACC/TCAAAG 1 -- us2k10--------
    rs412800311,2
    C,F--38033851(+) GGTGTC/GTCTCC 1 -- us2k13Minor allele frequency- G:0.05NA WA 240
    rs1440597491,2
    --38033866(+) CAGGAA/CCCTTA 1 -- us2k10--------
    rs72892751,2
    C,F,A--38033910(+) AGGAGC/TGCGGG 1 -- us2k17Minor allele frequency- T:0.25NA CSA WA EA 365
    rs2002518231,2
    C--38034071(+) TTCAA-/GGGACT 1 -- us2k10--------
    rs1839055641,2
    --38034143(+) CTGGAA/CCAGAG 1 -- us2k10--------
    rs130586851,2
    C,F,A--38034150(+) AGAGCA/GGGGGC 1 -- us2k17Minor allele frequency- G:0.26NA CSA WA EA 365
    rs1502674101,2
    --38034367(+) CCATCA/TGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SH3BP1 (38030661 - 38062939 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for SH3BP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829203CNV Loss20364138
    nsv834191CNV Loss17160897
    nsv471197CNV Loss18288195
    nsv915035CNV Loss21882294
    dgv4964n71CNV Loss21882294
    nsv915038CNV Loss21882294
    dgv4965n71CNV Loss21882294
    dgv1406e1CNV Complex17122850

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    (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.)
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      --

    (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)
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    PubMed articles for SH3BP1 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with SH3BP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I.... Wright H. (Nature 1999)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    5. Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1. (PubMed id 12029088)1, 3 Scott M.P.... Miller W.T. (J. Biol. Chem. 2002)
    6. A novel Rac1 GAP splice variant relays poly-Ub accumulation signals to mediate Rac1 inactivation. (PubMed id 23223568)1 Huang T.Y....DerMardirossian C. (Mol. Biol. Cell 2013)
    7. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. (PubMed id 24163370)1 Lu L....Zhang L. (J. Biol. Chem. 2013)
    8. Epithelial junction formation requires confinement of Cdc42 activity by a novel SH3BP1 complex. (PubMed id 22891260)1 Elbediwy A....Balda M.S. (J. Cell Biol. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23616 HGNC: 10824 AceView: SH3BP1 Ensembl:ENSG00000100092 euGenes: HUgn23616
    ECgene: SH3BP1 H-InvDB: SH3BP1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SH3BP1 Pharmacogenomics, SNPs, Pathways

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