SH3KBP1 (SH3 domain containing kinase binding protein 1)

2003-06-01  

Identity

HGNC
SH3KBP1
LOCATION
Xp22.12
LOCUSID
30011
ALIAS
AGMX2,CD2BP3,CIN85,GIG10,HSB-1,HSB1,IMD61,MIG18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 30011
MIM: 300374
HGNC: 13867
Ensembl: ENSG00000147010

Variants:

dbSNP: 30011
ClinVar: 30011
TCGA: ENSG00000147010
COSMIC: SH3KBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147010ENST00000379697Q5VSN0
ENSG00000147010ENST00000379698Q96B97
ENSG00000147010ENST00000379716Q96B97
ENSG00000147010ENST00000379726Q5JPT2
ENSG00000147010ENST00000397821Q96B97
ENSG00000147010ENST00000397821Q5JPT6
ENSG00000147010ENST00000431164Q5JPT3
ENSG00000147010ENST00000432234Q5JPT1

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersREACTOMER-HSA-983695
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
EGFR downregulationREACTOMER-HSA-182971
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
VLDL interactionsREACTOMER-HSA-8855121
Reelin signalling pathwayREACTOMER-HSA-8866376
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825
Signaling by METREACTOMER-HSA-6806834
Negative regulation of MET activityREACTOMER-HSA-6807004
Listeria monocytogenes entry into host cellsREACTOMER-HSA-8876384
InlB-mediated entry of Listeria monocytogenes into host cellREACTOMER-HSA-8875360

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
118940952002Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors.170
118940962002The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met.110
122181892002Cbl-directed monoubiquitination of CIN85 is involved in regulation of ligand-induced degradation of EGF receptors.41
121770622002CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinases.38
126900972003Linking the T cell surface protein CD2 to the actin-capping protein CAPZ via CMS and CIN85.35
127711902003SETA/CIN85/Ruk and its binding partner AIP1 associate with diverse cytoskeletal elements, including FAKs, and modulate cell adhesion.28
204576012010CIN85/RukL is a novel binding partner of nephrin and podocin and mediates slit diaphragm turnover in podocytes.27
172559432007CIN85, a Cbl-interacting protein, is a component of AMAP1-mediated breast cancer invasion machinery.26
158243102005Herpes simplex virus 1 infected cell protein 0 forms a complex with CIN85 and Cbl and mediates the degradation of EGF receptor from cell surfaces.23
176069922007Structure and function analysis of the CMS/CIN85 protein family identifies actin-bundling properties and heterotypic-complex formation.23

Citation

Dessen P

SH3KBP1 (SH3 domain containing kinase binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42284/sh3kbp1