SH3KBP1

Chr Xp22.12

SH3 domain containing kinase binding protein 1

Aliases:: CIN85
MANE:: ENST00000397821.8

OMIM: 300374 ↗NCBI: 30011 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SH3KBP1 · Q96B97

v62025-08-01

Predicted Aligned Error matrix for SH3KBP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.2/ 100

Low

665 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)6%
Low(50–70)14%
Very low(< 50)51%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

listeriosis
0.46
X-linked agammaglobulinemia
0.42
isolated agammaglobulinemia
0.37
neurodegenerative disease
0.23
laterality defects, autosomal dominant
0.11
glioma
0.08
central nervous system cancer
0.08
breast cancer
0.08
breast carcinoma
0.08
glioblastoma
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SH3 domain-containing kinase-binding protein 1

Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through an association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may be inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by interaction with its regulatory subunit (By similarity). May be involved in regulation of cell adhesion; promotes the interaction between TTK2B and PDCD6IP. May be involved in the regulation of cellular stress response via the MAPK pathways through its interaction with MAP3K4. Is involved in modulation of tumor necrosis factor mediated apoptosis. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Has an essential role in the stimulation of B cell activation (PubMed:29636373)