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Search results 1 to 1 out of 1 for Stambp

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Domain
Description: This domain is known as the MPN domain [], PAD-1-like domain [], JABP1 domain []or JAMM domain []. Proteins with this domain include proteasome regulatory subunits, eukaryotic initiation factor 3 (eIF3) subunits and regulators of transcription factors. They are metalloenzymes that function as the ubiquitin isopeptidase/deubiquitinase in the ubiquitin-based signaling and protein turnover pathways in eukaryotes []. Versions of the domain in prokaryotic cognates of the ubiquitin-modification pathway are predicted to have a similar role [].This entry represents the MPN domain found in human STAMBP (also known as AMSH) and STALP (also known as AMSH-LP) proteins. They are Zn-dependent deubiquitinating enzymes (DUBs) that regulate receptor trafficking by specifically cleaving Lys 63-linked polyubiquitin chains from internalised receptors []. Mutations in the STAMBP gene cause microcephaly-capillary malformation syndrome [].