BAIT
TBC1D32
BROMI, C6orf170, C6orf171, bA301B7.2, bA57L9.1, dJ310J6.1, RP1-310J6.1
TBC1 domain family, member 32
GO Process (0)
GO Function (0)
GO Component (0)
Homo sapiens
PREY
DPM1
CDGIE, MPDS, RP5-914P20.2
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
GO Process (9)
GO Function (3)
GO Component (5)
Gene Ontology Biological Process
- C-terminal protein lipidation [TAS]
- GPI anchor biosynthetic process [IDA]
- cellular protein metabolic process [TAS]
- dolichol metabolic process [IDA]
- dolichol-linked oligosaccharide biosynthetic process [TAS]
- post-translational protein modification [TAS]
- protein N-linked glycosylation via asparagine [TAS]
- protein O-linked mannosylation [IDA]
- protein mannosylation [IDA]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
Homo sapiens
Proximity Label-MS
An interaction is inferred when a bait-enzyme fusion protein selectively modifies a vicinal protein with a diffusible reactive product, followed by affinity capture of the modified protein and identification by mass spectrometric methods.
Publication
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown.To describe patients with syndromic hypopituitarism due to biallelic loss-of-function variants in TBC1D32, a gene implicated in Sonic Hedgehog (Shh) signaling.Referral center.A Finnish family of 2 siblings with panhypopituitarism, absent anterior pituitary, and mild ... [more]
J Clin Endocrinol Metab Dec. 01, 2019; 105(6); [Pubmed: 32060556]
Throughput
- Low Throughput
Curated By
- BioGRID