SH3KBP1 - SH3 domain containing kinase binding protein 1 Gene

Homo sapiens

Also known as HSB1; AGMX2; CIN85; GIG10; HSB-1; IMD61; MIG18; CD2BP3

Gene ID: 30011 | Gene type: protein coding

About SH3KBP1

Cytogenetic location: Xp22.12 Genomic coordinates (GRCh38): X:19,533,977-19,887,600 (from NCBI)

This gene has 50 transcripts (splice variants), 212 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 19.2), fat (RPKM 15.0) and 24 other tissues.

Summary

This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including Apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

SH3KBP1 Products(13)

mRNA	Protein	Name
NM_001024666.3	NP_001019837.1	SH3 domain-containing kinase-binding protein 1 isoform b
NM_001184960.2	NP_001171889.1	SH3 domain-containing kinase-binding protein 1 isoform c
NM_001353890.2	NP_001340819.1	SH3 domain-containing kinase-binding protein 1 isoform d
NM_001353891.2	NP_001340820.1	SH3 domain-containing kinase-binding protein 1 isoform e
NM_001353892.2	NP_001340821.1	SH3 domain-containing kinase-binding protein 1 isoform f
NM_001353893.2	NP_001340822.1	SH3 domain-containing kinase-binding protein 1 isoform g
NM_001353894.2	NP_001340823.1	SH3 domain-containing kinase-binding protein 1 isoform h
NM_001353895.2	NP_001340824.1	SH3 domain-containing kinase-binding protein 1 isoform i
NM_001353897.2	NP_001340826.1	SH3 domain-containing kinase-binding protein 1 isoform j
NM_001410756.1	NP_001397685.1	SH3 domain-containing kinase-binding protein 1 isoform k
NM_001410757.1	NP_001397686.1	SH3 domain-containing kinase-binding protein 1 isoform l
NM_001410758.1	NP_001397687.1	SH3 domain-containing kinase-binding protein 1 isoform m
NM_031892.3	NP_114098.1	SH3 domain-containing kinase-binding protein 1 isoform a

SH3KBP1 Protein Structure

SH3_9

0
200
400
600
665 a.a.

Protein Preferred Names

Protein Names

SH3 domain-containing kinase-binding protein 1

CD2-binding protein 3

Related Diseases

Diseases

Alias

Immunodeficiency 61

Agammaglobulinemia, X-Linked, Type 2	IMD61
Agmx2	Xla2
Agammaglobulinemia X-Linked Type 2	Agammaglobulinemia, X-Linked 2

Chikungunya

Chikungunya Fever	Arbovirus A Chikungunya Type
Chik	Chikv Infection
Ck	Chikungunya Virus Infection
Chikungunya Haemorrhagic Fever	Chikungunya Viral Disease
Chikungunya Mosquito-Borne Viral Fever

Adrenal Cortical Adenocarcinoma

Adrenal Cortex Adenocarcinoma

Adrenocortical Carcinoma

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

Oculoauricular Syndrome

OCACS	Schorderet-Munier-Franceschetti Syndrome
Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear	Oculoauricular Syndrome, Schorderet Type
Oculo-Auricular Syndrome

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12841	SH3KBP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SH3KBP1	VGNC	VGNC:77227
Canis familiaris	SH3KBP1	VGNC	VGNC:46129
Bos taurus	SH3KBP1	VGNC	VGNC:34577
Rattus norvegicus	SH3KBP1	RGD	RGD:620904
Mus musculus	SH3KBP1	MGD	MGI:1889583
Felis catus	SH3KBP1	VGNC	VGNC:65111

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