SH3BP4 - SH3 domain binding protein 4 Gene

Also Known as TTP; BOG25

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23677

About SH3BP4

Cytogenetic location: 2q37.2 Genomic coordinates (GRCh38): 2:234,952,017-235,055,714 (from NCBI)

This gene has 11 transcripts (splice variants), 277 orthologues and 1 paralogue. Ubiquitous expression in salivary gland (RPKM 12.0), gall bladder (RPKM 8.4) and 24 other tissues.

Summary

This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]

SH3BP4 Products (6)

mRNA	Protein	Name
NM_001371302.1	NP_001358231.1	SH3 domain-binding protein 4
NM_001371303.1	NP_001358232.1	SH3 domain-binding protein 4
NM_001371304.1	NP_001358233.1	SH3 domain-binding protein 4
NM_001371305.1	NP_001358234.1	SH3 domain-binding protein 4
NM_001371306.1	NP_001358235.1	SH3 domain-binding protein 4
NM_014521.3	NP_055336.1	SH3 domain-binding protein 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GDP-dissociation inhibitor activity	IMP IMP: Inferred from mutant phenotype	22575674	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16325581	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15161933	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	22575674	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in amino acid import	IMP IMP: Inferred from mutant phenotype	22575674	GOA
involved in cellular response to amino acid stimulus	IMP IMP: Inferred from mutant phenotype	22575674	GOA
involved in negative regulation of GTPase activity	IDA IDA: Inferred from direct assay	22575674	GOA
involved in negative regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	22575674	GOA
involved in negative regulation of cell growth	IMP IMP: Inferred from mutant phenotype	22575674	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	22575674	GOA
involved in positive regulation of autophagy	IMP IMP: Inferred from mutant phenotype	22575674	GOA
involved in protein localization to lysosome	IMP IMP: Inferred from mutant phenotype	22575674	GOA
involved in regulation of catalytic activity	IMP IMP: Inferred from mutant phenotype	22575674	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22575674	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SH3BP4 Protein Structure

SH3_9

ZU5

SH3_2

0
200
400
600
800
963 a.a.

Protein Preferred Names	Protein Names
SH3 domain-binding protein 4	EH-binding protein 10

SH3BP4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SH3BP4	Q9P0V3	GIPC1	Homo sapiens	O14908	Anti Tag CoIP	29467281
Intra	SH3BP4	Q9P0V3	YWHAG	Homo sapiens	P61981	CoIP	15324660
Intra	SH3BP4	Q9P0V3	YWHAG	Homo sapiens	P61981	Y2H Pooling	20936779
Intra	SH3BP4	Q9P0V3	CIZ1	Homo sapiens	Q9ULV3	Anti Tag CoIP	18654987
Intra	SH3BP4	Q9P0V3	PLEKHA1	Homo sapiens	Q9HB21	Y2H	18654987
Intra	SH3BP4	Q9P0V3	DNM2	Homo sapiens	P50570	Anti Bait CoIP	16325581
Intra	SH3BP4	Q9P0V3	DNM2	Homo sapiens	P50570	Anti Tag CoIP	16325581
Intra	SH3BP4	Q9P0V3	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	SH3BP4	Q9P0V3	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780
Intra	SH3BP4	Q9P0V3	TFRC	Homo sapiens	P02786	Anti Bait CoIP	16325581
Intra	SH3BP4	Q9P0V3	TFRC	Homo sapiens	P02786	SPR	16325581
Intra	SH3BP4	Q9P0V3	TFRC	Homo sapiens	P02786	Anti Tag CoIP	16325581
Intra	SH3BP4	Q9P0V3	TFRC	Homo sapiens	P02786	Pull Down	16325581
Intra	SH3BP4	Q9P0V3	TFRC	Homo sapiens	P02786	Competition Binding	16325581
Cross	SH3BP4	Q9P0V3	Dnm2	Rattus norvegicus	P39052	Pull Down	16325581

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Molluscum Contagiosum	Water Warts Molluscum Verrucosum
Metacarpal 4-5 Fusion	Syndactyly Type 8 MF4 Fusion Of Metacarpals 4 And 5 Metacarpals 4 And 5 Fusion Metacarpal 4 5 Fusion
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic Cardiomyopathy 2 CMH2 Cardiomyopathy, Hypertrophic, 2 Cardiomyopathy Familial Hypertrophic 2 Cardiomyopathy, Familial Hypertrophic 2 Cardiomyopathy, Hypertrophic, Familial, Type 2
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12832	SH3BP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SH3BP4	RGD	RGD:620219
Canis familiaris	SH3BP4	VGNC	VGNC:46119
Macaca mulatta	SH3BP4	VGNC	VGNC:77202
Bos taurus	SH3BP4	VGNC	VGNC:34567
Felis catus	SH3BP4	VGNC	VGNC:65102
Mus musculus	SH3BP4	MGD	MGI:2138297
Others	SH3BP4	NCBI