RBCC Red Blood Cell Collection

STABP_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: STAMBP , AMSH
Protein names and data: STABP_HUMAN , STAM-binding protein; 3.4.19.- , Associated molecule with the SH3 domain of STAM; Endosome-associated ubiquitin isopeptidase Lenght: 424 a.a.
Mass: 48077 Da
fasta formatted sequence
Function: Zinc metalloprotease that specifically cleaves 'Lys-63'- linked polyubiquitin chains. Does not cleave 'Lys-48'-linked polyubiquitin chains (By similarity). Plays a role in signal transduction for cell growth and MYC induction mediated by IL-2 and GM-CSF. Potentiates BMP (bone morphogenetic protein) signaling by antagonizing the inhibitory action of SMAD6 and SMAD7. Has a key role in regulation of cell surface receptor-mediated endocytosis and ubiquitin-dependent sorting of receptors to lysosomes. Endosomal localization of STAMBP is required for efficient EGFR degradation but not for its internalization (By similarity). Involved in the negative regulation of PI3K-AKT-mTOR and RAS-MAP signaling pathways.
Disease: ( OMIM: 606247 614261 ) Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261]: A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus. Membrane; Peripheral membrane protein. Cytoplasm. Early endosome.
Tissue specificity: Ubiquitously expressed.

Genetic variants

14 - 14 R -> P (in MICCAP). VAR_069806
38 - 38 R -> C (in MICCAP). VAR_069807
42 - 42 E -> G (in MICCAP). VAR_069808
63 - 63 Y -> C (in MICCAP). VAR_069809
100 - 100 F -> Y (in MICCAP). VAR_069810
313 - 313 T -> I (in MICCAP). VAR_069811

Database cross-references

UniProt: O95630
Ensembl: ENST00000339566
Ensembl: ENST00000394070
Ensembl: ENST00000394073
Ensembl: ENST00000409707
MIM: 606247
MIM: 614261
neXtProt: NX_O95630
Antibodypedia: O95630 (may not find the protein thus also not any antibody)
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