1. Gene
  2. SH3BP4 - SH3 domain binding protein 4 Gene

SH3BP4 - SH3 domain binding protein 4 Gene

Homo sapiens

Also known as TTP; BOG25

Gene ID: 23677 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

SH3_9: Variant SH3 domain (62 - 110)

ZU5

ZU5: ZU5 domain (322 - 403)

SH3_2

SH3_2: Variant SH3 domain (658 - 721)

  • 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 Reference
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

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