SH3BP1 SH3 domain binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SH3BP1provided by HGNC
Official Full Name: SH3 domain binding protein 1provided by HGNC
Primary source: HGNC:HGNC:10824
See related: Ensembl:ENSG00000100092 MIM:617368; AllianceGenome:HGNC:10824
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARHGAP43
Summary: 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]
Expression: Broad expression in spleen (RPKM 13.4), appendix (RPKM 12.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37639669..37656117)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38100953..38117403)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38035676..38052124)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.
Title: Reciprocal interactions among Cobll1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia.
Study demonstrated a high SH3BP1 expression in cervical cancer tissues and correlated with a shorter overall survival. Its expression is even higher in cisplatin resistant cervical neoplasm tissues compared to that of the cisplatin-sensitive ones. Furthermore, SH3BP1 plays an important role in the regulation of cervical cancer cell invasion, migration, and chemoresistance through Rac1/Wav2.
Title: SH3BP1-induced Rac-Wave2 pathway activation regulates cervical cancer cell migration, invasion, and chemoresistance to cisplatin.
SH3BP1 promoted VEGF secretion via Rac1-WAVE2 signaling, so as to exert an augmentation on cell invasion and microvessel formation.
Title: SH3-domain binding protein 1 in the tumor microenvironment promotes hepatocellular carcinoma metastasis through WAVE2 pathway.
The identification and characterization of SH3BP1 as a novel downstream effector of Sema3E-PlexinD1 provides an explanation for how extracellular signals are translated into cytoskeletal changes and unique cell behavior.
Title: An image-based RNAi screen identifies SH3BP1 as a key effector of Semaphorin 3E-PlexinD1 signaling.
Splicing of SH3BP1 and CIN gene loci produces the novel brain specific splice variant BGIN.
Title: A novel Rac1 GAP splice variant relays poly-Ub accumulation signals to mediate Rac1 inactivation.
Epithelial junction formation and morphogenesis require a dual activity complex, containing SH3BP1 and CapZ, that is recruited to sites of active membrane remodeling to guide Cdc42 signaling and cytoskeletal dynamics.
Title: Epithelial junction formation requires confinement of Cdc42 activity by a novel SH3BP1 complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activator activity	TAS Traceable Author Statement more info
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables semaphorin receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of epithelial cell apical/basal polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in filopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of small GTPase mediated signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of small GTPase mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagocytosis, engulfment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Rac protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin filament depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in ruffle assembly	IEA Inferred from Electronic Annotation more info
involved_in semaphorin-plexin signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell leading edge	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of exocyst	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic cup	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: SH3 domain-binding protein 1

Names: 3BP-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_053097.2 RefSeqGene

Range

5195..21645

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1154

mRNA and Protein(s)

NM_001350055.2 → NP_001336984.1 SH3 domain-binding protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region and differs in the 3' UTR compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

HY340971, Z83844

UniProtKB/TrEMBL

Q6ZTJ5

Conserved Domains (2) summary

cd07620
Location:16 → 272

BAR_SH3BP1; The Bin/Amphiphysin/Rvs (BAR) domain of SH3-domain Binding Protein 1

cl02570
Location:272 → 473

RhoGAP; GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when bound to ...
NM_018957.6 → NP_061830.3 SH3 domain-binding protein 1 isoform 1

See identical proteins and their annotated locations for NP_061830.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA748769, AK126873, BQ005545, BX465097, CR456576

Consensus CDS

CCDS13952.2

UniProtKB/Swiss-Prot

Q5R3N0, Q6IBZ2, Q6ZVL9, Q96HQ5, Q9NSQ9, Q9Y3L3

UniProtKB/TrEMBL

A0A2X0SFX7, Q3ZTT7

Related

ENSP00000497104.1, ENST00000649765.2

Conserved Domains (2) summary

cd07620
Location:16 → 272

BAR_SH3BP1; The Bin/Amphiphysin/Rvs (BAR) domain of SH3-domain Binding Protein 1

cl02570
Location:272 → 473

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...