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FLASH GENE

Symbol

SH3BP1

contributors: mct - updated : 26-11-2020

HGNC name	SH3-domain binding protein 1
HGNC id	10824

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	brain-specific RhoGAP splice variant, BARGIN (BGIN), which comprises a combination of BAR, GAP, and partial PDXP phosphatase domains spliced from adjacent SH3BP1 and PDXP gene loci (23223568)
STRUCTURE	16.64 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018957 18 - 2592 NP_061830 76 701 - 2012 22891260 NM_001350055 18 - 2213 NP_001336984 - 608 - 2012 22891260

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain of SH3BP1 has recently been shown to associate with the exocyst in cells overexpressing the GAP
	an SH3 domain
	RhoGAP domains, which were thought to be inactive toward RhoA, are also found capable of stimulating the GTPase activity of RHOA in a dose-dependent manner

HOMOLOGY

Homologene

FAMILY

RhoGAP family

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	plasma membrane,junction,adherens
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	new and specific RAC1 GAP that can act in cells to counter RAC1-mediated membrane ruffling
	partner of the exocyst complex
	regulates cell migration via its GAP activity upon RAC1
	SH3BP1 regulates epithelial junction formation
	is a critical regulator of junction formation and epithelial morphogenesis in cell models derived from different epithelial tissues
	SH3BP1 complex contains two activities that regulate the actin cytoskeleton: a GAP and a capping activity
	ARHGAP12, ARHGAP25 and SH3BP1 are responsible for GTPase inactivation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

SH3BP1 formed a complex with CGNL1/paracingulin, a junctional adaptor, and CD2AP, a scaffolding protein, and both were required for normal CDC42 signaling and junction formation

INTERACTION

DNA

RNA

small molecule

protein	downregulates RAC1 at the motile-cell front, indicating that RAC1 inactivation in this location, as well as its activation by GEF proteins, is a fundamental requirement for cell motility
	SH3BP1, a GTPase-activating protein for CDC42 and RAC1, is a regulator of junction assembly and epithelial morphogenesis
	CDC42 is a functionally important target of SH3BP1
	identification and characterization of SH3BP1 as a novel downstream effector of SEMA3E-PlexinD1
	SH3BP1 specifically inactivating RAC1 and its target WASF2 is required for cell motility, thus regarded as an essential regulator of cancer cell metastasis
	PACSIN2 competitively interacts with COBLL1 or SH3BP1 with a higher affinity for COBLL1
	reciprocal interactions among COBLL1, PACSIN2, and SH3BP1 regulate drug resistance in chronic myeloid leukemia

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in cervical cancer tissues, and is correlated with a shorter overall survival of patients with cervical cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS