InnateDB Protein
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IDBP-56680.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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STAMBP
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Protein Name
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STAM binding protein
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Synonyms
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AMSH; MICCAP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000344742
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InnateDB Gene
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IDBG-56678 (STAMBP)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus. Membrane; Peripheral membrane protein. Cytoplasm. Early endosome.
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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.
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Tissue Specificity |
Ubiquitously expressed.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
74
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000555
JAB1/MPN/MOV34 metalloenzyme domain
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PFAM |
PF01398
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PRINTS |
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PIRSF |
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SMART |
SM00232
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TIGRFAMs |
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Modification |
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SwissProt |
O95630
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PhosphoSite |
PhosphoSite-O95630
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TrEMBL |
C9JZ93
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UniProt Splice Variant |
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Entrez Gene |
10617
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UniGene |
Hs.732857
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RefSeq |
NP_964010
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HUGO |
HGNC:16950
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OMIM |
606247
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CCDS |
CCDS1929
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HPRD |
05877
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IMGT |
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EMBL |
AC073046
BC007682
BC065574
BC101467
BC101469
CH471053
U73522
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GenPept |
AAD05037
AAH07682
AAH65574
AAI01468
AAI01470
AAX88908
EAW99715
EAW99716
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