Hh processing variants are ubiquitinated

Stable Identifier
R-HSA-5483238
Type
Reaction [transition]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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Processing-defective SHH variants are ubiquitinated by SYVN1 (Chen et al, 2011).
Literature References
PubMed ID Title Journal Year
21357747 Processing and turnover of the Hedgehog protein in the endoplasmic reticulum

Jao, C, Rapoport, TA, Tang, HY, Chu, YR, Schulman, S, Huang, CH, Chen, X, Salic, A, Mueller, B, Tukachinsky, H

J. Cell Biol. 2011
Participants
Participates
Catalyst Activity

ubiquitin-protein transferase activity of SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane]

Functional status

Gain of function of SHH processing variants:ERLEC:OS9:SEL1:SYVN1 dimer:DERL2:VCP hexamer [endoplasmic reticulum membrane]

Disease Entity
Status
Disease
Name Identifier Synonyms
holoprosencephaly DOID:4621 Holoprosencephaly sequence (disorder)
Authored
Reviewed
Created
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