Homo sapiens Protein: STAMBP
Summary
InnateDB Protein IDBP-295546.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol STAMBP
Protein Name STAM binding protein
Synonyms AMSH; MICCAP;
Species Homo sapiens
Ensembl Protein ENSP00000386548
InnateDB Gene IDBG-56678 (STAMBP)
Protein Structure
UniProt Annotation
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. {ECO:0000250, ECO:0000269PubMed:10383417, ECO:0000269PubMed:11483516, ECO:0000269PubMed:15314065, ECO:0000269PubMed:17261583, ECO:0000269PubMed:23542699}.
Subcellular Localization Nucleus. Membrane; Peripheral membrane protein. Cytoplasm. Early endosome.
Disease Associations 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. {ECO:0000269PubMed:23542699}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 76 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 76 [view]
Protein-Protein 74 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004843 ubiquitin-specific protease activity
GO:0005515 protein binding
GO:0008237 metallopeptidase activity
GO:0046872 metal ion binding
Biological Process
GO:0000281 mitotic cytokinesis
GO:0006508 proteolysis
GO:0007259 JAK-STAT cascade
GO:0008284 positive regulation of cell proliferation
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling
GO:0016579 protein deubiquitination
GO:0046580 negative regulation of Ras protein signal transduction
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0032154 cleavage furrow
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000555 JAB1/MPN/MOV34 metalloenzyme domain
PFAM PF01398
PRINTS
PIRSF
SMART SM00232
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O95630
PhosphoSite PhosphoSite-O95630
TrEMBL C9JZ93
UniProt Splice Variant
Entrez Gene 10617
UniGene Hs.732857
RefSeq XP_006711984
HUGO HGNC:16950
OMIM 606247
CCDS CCDS1929
HPRD 05877
IMGT
EMBL AC073046 BC007682 BC065574 BC101467 BC101469 CH471053 U73522
GenPept AAD05037 AAH07682 AAH65574 AAI01468 AAI01470 AAX88908 EAW99715 EAW99716