This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motilit... See more...

Aliases for SH3BP1 Gene

Aliases for SH3BP1 Gene

  • SH3 Domain Binding Protein 1 2 3 5
  • SH3 Domain-Binding Protein 1 3 4
  • ARHGAP43 3
  • 3BP-1 3

External Ids for SH3BP1 Gene

Previous GeneCards Identifiers for SH3BP1 Gene

  • GC22P034651
  • GC22P036280
  • GC22P036278
  • GC22P036361
  • GC22P038030
  • GC22P021002

Summaries for SH3BP1 Gene

Entrez Gene Summary for SH3BP1 Gene

  • This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017]

GeneCards Summary for SH3BP1 Gene

SH3BP1 (SH3 Domain Binding Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and SH3 domain binding. An important paralog of this gene is ENSG00000285304.

UniProtKB/Swiss-Prot Summary for SH3BP1 Gene

  • GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration (PubMed:21658605). Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions (PubMed:22891260). Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specifically recruited by a PI3 kinase/PI3K-dependent mechanism to sites of large particles engagement, inactivates RAC1 and/or CDC42 allowing the reorganization of the underlying actin cytoskeleton required for engulfment (PubMed:26465210). It also plays a role in angiogenesis and the process of repulsive guidance as part of a semaphorin-plexin signaling pathway. Following the binding of PLXND1 to extracellular SEMA3E it dissociates from PLXND1 and inactivates RAC1, inducing the intracellular reorganization of the actin cytoskeleton and the collapse of cells (PubMed:24841563).

Gene Wiki entry for SH3BP1 Gene

Additional gene information for SH3BP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH3BP1 Gene

Genomics for SH3BP1 Gene

GeneHancer (GH) Regulatory Elements for SH3BP1 Gene

Promoters and enhancers for SH3BP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J037630 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 540.9 +1.9 1935 11.7 CTCF NRF1 POLR2G USF1 SP1 NCOR1 FOS EP300 ZIC2 KDM6A SH3BP1 GGA1 GCAT LGALS2 ENSG00000285304 piR-32881 LOC101927051
GH22J037647 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 513.4 +13.3 13317 1.3 ZNF263 MAX RFX5 TCF7L2 USF2 MAFK KLF1 MYC GATA1 SP7 SH3BP1 LOC101927051 TRIOBP ENSG00000285304
GH22J037646 Promoter 0.4 EPDnew 500.4 +12.2 12170 0.1 ZNF837 SH3BP1 PLA2G6 C1QTNF6 ENSG00000285304 LOC101927051
GH22J037672 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15 +41.0 40958 6.8 ZNF217 TCF12 SIN3A NRF1 POLR2G SP1 NCOR1 JUND FOS ZFX LGALS1 lnc-LGALS2-5 piR-61945-332 NOL12 SH3BP1 LOC101927051 H1-0 GCAT GGA1 CYTH4
GH22J037657 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 +25.5 25451 5.4 EP300 CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 JUND FOS LOC101927051 PDXP SH3BP1 GGA1 RF00017-3830 RN7SL385P lnc-LGALS2-3 ENSG00000285304
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH3BP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH3BP1

Top Transcription factor binding sites by QIAGEN in the SH3BP1 gene promoter:
  • Egr-1
  • GATA-2
  • NF-1
  • NF-1/L
  • Nkx2-5
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • YY1

Genomic Locations for SH3BP1 Gene

Genomic Locations for SH3BP1 Gene
chr22:37,634,654-37,656,119
(GRCh38/hg38)
Size:
21,466 bases
Orientation:
Plus strand
chr22:38,030,661-38,062,939
(GRCh37/hg19)
Size:
32,279 bases
Orientation:
Plus strand

Genomic View for SH3BP1 Gene

Genes around SH3BP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3BP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3BP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3BP1 Gene

Proteins for SH3BP1 Gene

  • Protein details for SH3BP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3L3-3BP1_HUMAN
    Recommended name:
    SH3 domain-binding protein 1
    Protein Accession:
    Q9Y3L3
    Secondary Accessions:
    • Q5R3N0
    • Q6IBZ2
    • Q6ZVL9
    • Q96HQ5
    • Q9NSQ9

    Protein attributes for SH3BP1 Gene

    Size:
    701 amino acids
    Molecular mass:
    75713 Da
    Quaternary structure:
    • Interacts with RAC1 (By similarity). Interacts with the exocyst via EXOC4 and EXOC8; required for the localization of both SH3BP1 and the exocyst to the leading edge of migrating cells (PubMed:21658605). Interacts with CD2AP and CGNL1; probably part of a complex at cell junctions (PubMed:22891260). Interacts with CAPZA1; recruits CAPZA1 to forming cell junctions (PubMed:22891260). May interact with AFDN (PubMed:22891260). Interacts with PLXND1; they dissociate upon SEMA3E binding to PLXND1 allowing SH3BP1 to transduce downstream signal through RAC1 inactivation (PubMed:24841563). Interacts with ABL1, GRB2 and SRC (via SH3 domain) (By similarity).
    SequenceCaution:
    • Sequence=AAH08282.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC85842.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC85842.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SH3BP1 Gene

    Alternative splice isoforms for SH3BP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3BP1 Gene

Post-translational modifications for SH3BP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH3BP1 Gene

No data available for DME Specific Peptides for SH3BP1 Gene

Domains & Families for SH3BP1 Gene

Gene Families for SH3BP1 Gene

Protein Domains for SH3BP1 Gene

Blocks:
  • RhoGAP domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SH3BP1 Gene

GenScript: Design optimal peptide antigens:
  • SH3 domain-binding protein 1 (3BP1_HUMAN)
  • SH3 domain binding protein 1 (Q3ZTT7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3L3

UniProtKB/Swiss-Prot:

3BP1_HUMAN :
  • The BAR domain mediates interaction with the exocyst components EXOC4 and EXOC8 and is required for the function in cell migration (PubMed:21658605). It also mediates the interaction with PLXND1 (PubMed:24841563).
Domain:
  • The BAR domain mediates interaction with the exocyst components EXOC4 and EXOC8 and is required for the function in cell migration (PubMed:21658605). It also mediates the interaction with PLXND1 (PubMed:24841563).
genes like me logo Genes that share domains with SH3BP1: view

Function for SH3BP1 Gene

Molecular function for SH3BP1 Gene

UniProtKB/Swiss-Prot Function:
GTPase activating protein (GAP) which specifically converts GTP-bound Rho-type GTPases including RAC1 and CDC42 in their inactive GDP-bound form. By specifically inactivating RAC1 at the leading edge of migrating cells, it regulates the spatiotemporal organization of cell protrusions which is important for proper cell migration (PubMed:21658605). Also negatively regulates CDC42 in the process of actin remodeling and the formation of epithelial cell junctions (PubMed:22891260). Through its GAP activity toward RAC1 and/or CDC42 plays a specific role in phagocytosis of large particles. Specifically recruited by a PI3 kinase/PI3K-dependent mechanism to sites of large particles engagement, inactivates RAC1 and/or CDC42 allowing the reorganization of the underlying actin cytoskeleton required for engulfment (PubMed:26465210). It also plays a role in angiogenesis and the process of repulsive guidance as part of a semaphorin-plexin signaling pathway. Following the binding of PLXND1 to extracellular SEMA3E it dissociates from PLXND1 and inactivates RAC1, inducing the intracellular reorganization of the actin cytoskeleton and the collapse of cells (PubMed:24841563).
GENATLAS Biochemistry:
SH3-domain binding protein 1

Phenotypes From GWAS Catalog for SH3BP1 Gene

Gene Ontology (GO) - Molecular Function for SH3BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IMP,IBA 22891260
GO:0005515 protein binding IEA,IPI 21044950
GO:0017124 SH3 domain binding IEA --
GO:0030215 semaphorin receptor binding IPI 24841563
GO:0048365 Rac GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with SH3BP1: view
genes like me logo Genes that share phenotypes with SH3BP1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SH3BP1 Gene

Localization for SH3BP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH3BP1 Gene

Cell projection. Cell junction, tight junction. Cell junction, adherens junction. Cell projection, phagocytic cup. Nucleus. Cytoplasm, cytosol. Note=Localizes at the leading edge of migrating cells (PubMed:21658605, PubMed:24841563). Accumulation at forming phagocytic cups is PI3 kinase/PI3K-dependent and is specific for sites of large particles engagement and their phosphatidylinositol 3,4,5-triphosphate membrane content (PubMed:26465210). {ECO:0000269 PubMed:21658605, ECO:0000269 PubMed:24841563, ECO:0000269 PubMed:26465210}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH3BP1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SH3BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 colocalizes_with exocyst IDA 21658605
GO:0001891 phagocytic cup IEA,IDA 26465210
GO:0005634 nucleus IDA,IEA 22891260
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 22891260
genes like me logo Genes that share ontologies with SH3BP1: view

Pathways & Interactions for SH3BP1 Gene

PathCards logo

SuperPathways for SH3BP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SH3BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis IEA --
GO:0006911 phagocytosis, engulfment IMP 26465210
GO:0007015 actin filament organization IMP 22891260
GO:0007165 signal transduction IEA --
GO:0016477 cell migration IMP 21658605
genes like me logo Genes that share ontologies with SH3BP1: view

No data available for Pathways by source and SIGNOR curated interactions for SH3BP1 Gene

Drugs & Compounds for SH3BP1 Gene

No Compound Related Data Available

Transcripts for SH3BP1 Gene

mRNA/cDNA for SH3BP1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH3BP1 Gene

No ASD Table

Relevant External Links for SH3BP1 Gene

GeneLoc Exon Structure for
SH3BP1

Expression for SH3BP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH3BP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3BP1 Gene

This gene is overexpressed in Whole Blood (x9.8).

Protein differential expression in normal tissues from HIPED for SH3BP1 Gene

This gene is overexpressed in Lymph node (27.0) and Peripheral blood mononuclear cells (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SH3BP1 Gene



Protein tissue co-expression partners for SH3BP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH3BP1

SOURCE GeneReport for Unigene cluster for SH3BP1 Gene:

Hs.601143

Evidence on tissue expression from TISSUES for SH3BP1 Gene

  • Liver(4.2)
  • Pancreas(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with SH3BP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3BP1 Gene

Orthologs for SH3BP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH3BP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH3BP1 31 30
  • 99.05 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SH3BP1 31 30
  • 87.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SH3BP1 31 30
  • 87.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3bp1 17 31 30
  • 85.14 (n)
rat
(Rattus norvegicus)
Mammalia Sh3bp1 30
  • 82.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SH3BP1 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3BP1 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3BP1 30
  • 69.64 (n)
-- 31
  • 69 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SH3BP1 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3bp1 30
  • 56.98 (n)
zebrafish
(Danio rerio)
Actinopterygii sh3bp1 31 30
  • 57.67 (n)
OneToOne
Dr.2071 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12938 30
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP92B 31 32
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y34B4A.8 31
  • 22 (a)
OneToMany
Species where no ortholog for SH3BP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SH3BP1 Gene

ENSEMBL:
Gene Tree for SH3BP1 (if available)
TreeFam:
Gene Tree for SH3BP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH3BP1: view image

Paralogs for SH3BP1 Gene

Paralogs for SH3BP1 Gene

(32) SIMAP similar genes for SH3BP1 Gene using alignment to 5 proteins:

  • 3BP1_HUMAN
  • F5GZA8_HUMAN
  • F8WEQ3_HUMAN
  • Q3ZTT7_HUMAN
  • Q6ZT62_HUMAN
genes like me logo Genes that share paralogs with SH3BP1: view

Variants for SH3BP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH3BP1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs2269548 - p.Ser656Phe
rs929038 - p.Pro511Leu

Additional dbSNP identifiers (rs#s) for SH3BP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SH3BP1 Gene

Variant ID Type Subtype PubMed ID
esv2758838 CNV loss 17122850
nsv1057617 CNV gain 25217958
nsv1072636 CNV deletion 25765185
nsv471197 CNV loss 18288195
nsv589006 CNV loss 21841781
nsv829203 CNV loss 20364138
nsv834191 CNV loss 17160897

Variation tolerance for SH3BP1 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.20; 69.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH3BP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3BP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3BP1 Gene

Disorders for SH3BP1 Gene

Additional Disease Information for SH3BP1

No disorders were found for SH3BP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH3BP1 Gene

Publications for SH3BP1 Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 54
  2. Phosphoinositide 3-kinase enables phagocytosis of large particles by terminating actin assembly through Rac/Cdc42 GTPase-activating proteins. (PMID: 26465210) Schlam D … Grinstein S (Nature communications 2015) 3 4 54
  3. An image-based RNAi screen identifies SH3BP1 as a key effector of Semaphorin 3E-PlexinD1 signaling. (PMID: 24841563) Tata A … Gu C (The Journal of cell biology 2014) 3 4 54
  4. A novel Rac1 GAP splice variant relays poly-Ub accumulation signals to mediate Rac1 inactivation. (PMID: 23223568) Huang TY … DerMardirossian C (Molecular biology of the cell 2013) 3 4 54
  5. Epithelial junction formation requires confinement of Cdc42 activity by a novel SH3BP1 complex. (PMID: 22891260) Elbediwy A … Balda MS (The Journal of cell biology 2012) 3 4 54

Products for SH3BP1 Gene

Sources for SH3BP1 Gene