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
BAG6
BAG-6, BAT3, D6S52E, G3, DADB-70P7.10-021
BCL2-associated athanogene 6
GO Process (14)
GO Function (5)
GO Component (6)
Gene Ontology Biological Process
- brain development [ISS]
- embryo development [ISS]
- internal peptidyl-lysine acetylation [IDA]
- intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [IMP]
- intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [ISS]
- kidney development [ISS]
- lung development [ISS]
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process [ISS]
- negative regulation of proteolysis [ISS]
- protein stabilization [ISS]
- spermatogenesis [ISS]
- synaptonemal complex assembly [ISS]
- tail-anchored membrane protein insertion into ER membrane [IDA]
- ubiquitin-dependent protein catabolic process [ISS]
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