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Aliases for SH3BP1 Gene

Aliases for SH3BP1 Gene

  • SH3 Domain Binding Protein 1 2 3 5
  • SH3 Domain-Binding Protein 1 3
  • 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 ARHGAP17.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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
GH22I037630 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 591 +1.9 1935 11.7 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 E2F8 ZNF143 FOS SP3 SH3BP1 GGA1 GCAT LGALS2 PIR43880 GC22P037635 GC22M042645 LOC101927051
GH22I037672 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15 +40.9 40905 6.7 HDGF ARNT ARID4B SIN3A ZNF2 SLC30A9 POLR2B ZNF766 ZNF213 FOS LGALS1 GC22P037676 GC22P037677 GC22M042660 GGA1 SH3BP1 LOC101927051 DDX17 H1F0 GCAT
GH22I037657 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 +25.5 25507 5.3 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 LOC101927051 PDXP GC22M042628 GGA1 SH3BP1 DDX17 GC22P037667 GC22M042660
GH22I037606 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 -25.3 -25296 5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B GGA1 SH3BP1 EIF3L DDX17 H1F0 PIR36618 GC22P037617
GH22I037227 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 -397.9 -397947 18.7 HDGF PKNOX1 SMAD1 ARNT POLR2B E2F8 ZNF207 ZNF143 FOS REST RAC2 CYTH4 GGA1 CSF2RB SSTR3 C1QTNF6 NCF4 SH3BP1 ENSG00000226233 MFNG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SH3BP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SH3BP1 gene promoter:

Genomic Locations for SH3BP1 Gene

Genomic Locations for SH3BP1 Gene
chr22:37,634,654-37,666,932
(GRCh38/hg38)
Size:
32,279 bases
Orientation:
Plus strand
chr22:38,030,661-38,062,939
(GRCh37/hg19)

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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC85842.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC85842.1; Type=Erroneous termination; Positions=56; Note=Translated as Cys.; 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

Suggested Antigen Peptide Sequences for SH3BP1 Gene

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

GENATLAS Biochemistry:
SH3-domain binding protein 1
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).

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 22891260
GO:0005515 protein binding IPI 21044950
GO:0017124 SH3 domain binding IEA --
GO:0030215 semaphorin receptor binding IPI 24841563
genes like me logo Genes that share ontologies with SH3BP1: view
genes like me logo Genes that share phenotypes with SH3BP1: view

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 1

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 IDA,IEA 26465210
GO:0005634 nucleus IEA,IDA 22891260
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,IEA 22891260
genes like me logo Genes that share ontologies with SH3BP1: view

Pathways & Interactions for SH3BP1 Gene

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,IEA 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

Unigene Clusters for SH3BP1 Gene

SH3-domain binding protein 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SH3BP1

Expression for SH3BP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SH3BP1 Gene



Protein tissue co-expression partners for SH3BP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SH3BP1 Gene:

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 33 34
  • 99.05 (n)
dog
(Canis familiaris)
Mammalia SH3BP1 33 34
  • 87.93 (n)
cow
(Bos Taurus)
Mammalia SH3BP1 33 34
  • 87.59 (n)
mouse
(Mus musculus)
Mammalia Sh3bp1 33 16 34
  • 85.14 (n)
rat
(Rattus norvegicus)
Mammalia Sh3bp1 33
  • 82.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SH3BP1 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH3BP1 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3BP1 33
  • 69.64 (n)
-- 34
  • 69 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SH3BP1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh3bp1 33
  • 56.98 (n)
zebrafish
(Danio rerio)
Actinopterygii sh3bp1 33 34
  • 57.67 (n)
Dr.2071 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12938 33
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP92B 35 34
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea Y34B4A.8 34
  • 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)

Paralogs for SH3BP1 Gene

Variants for SH3BP1 Gene

Sequence variations from dbSNP and Humsavar for SH3BP1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000079638 -- 37,642,824(+) G/A intron_variant
rs1000128341 -- 37,640,816(+) G/A/C intron_variant
rs1000396072 -- 37,651,668(+) C/T intron_variant
rs1000802436 -- 37,649,500(+) T/C intron_variant
rs1000829990 -- 37,641,546(+) G/A intron_variant

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 58
  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 58
  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 58
  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 58
  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 58

Products for SH3BP1 Gene

Sources for SH3BP1 Gene

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