STAMBP (STAM binding protein)

2016-10-01  

Identity

HGNC
LOCATION
2p13.1
LOCUSID
ALIAS
AMSH,MICCAP
FUSION GENES

Other Information

Locus ID:

NCBI: 10617
MIM: 606247
HGNC: 16950
Ensembl: ENSG00000124356

Variants:

dbSNP: 10617
ClinVar: 10617
TCGA: ENSG00000124356
COSMIC: STAMBP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124356ENST00000339566O95630
ENSG00000124356ENST00000339566A0A140VK54
ENSG00000124356ENST00000394070O95630
ENSG00000124356ENST00000394070A0A140VK54
ENSG00000124356ENST00000394073O95630
ENSG00000124356ENST00000394073A0A140VK54
ENSG00000124356ENST00000409707O95630
ENSG00000124356ENST00000409707A0A140VK54
ENSG00000124356ENST00000424659C9JEK5
ENSG00000124356ENST00000432295C9JK83
ENSG00000124356ENST00000452725C9JZ93
ENSG00000124356ENST00000536064F5H5B9

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Metalloprotease DUBsREACTOMER-HSA-5689901

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
187584432008Structural basis for specific cleavage of Lys 63-linked polyubiquitin chains.137
153140652004AMSH is an endosome-associated ubiquitin isopeptidase.134
165203782006The ubiquitin isopeptidase UBPY regulates endosomal ubiquitin dynamics and is essential for receptor down-regulation.99
177118582007The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation.63
167604792006Interaction of AMSH with ESCRT-III and deubiquitination of endosomal cargo.53
172615832007Targeting of AMSH to endosomes is required for epidermal growth factor receptor degradation.43
196840152009Endosomal deubiquitinating enzymes control ubiquitination and down-regulation of protease-activated receptor 2.42
214486662011Regulation of endocytic sorting by ESCRT-DUB-mediated deubiquitination.32
201599792010AMSH interacts with ESCRT-0 to regulate the stability and trafficking of CXCR4.31
171593282007AMSH, an ESCRT-III associated enzyme, deubiquitinates cargo on MVB/late endosomes.30

Citation

Dessen P

STAMBP (STAM binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56018/stambp