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
RAB6A
RAB6
RAB6A, member RAS oncogene family
GO Process (10)
GO Function (6)
GO Component (6)
Gene Ontology Biological Process
- GTP catabolic process [IDA, TAS]
- Rab protein signal transduction [IBA]
- antigen processing and presentation [IMP]
- early endosome to Golgi transport [IMP]
- minus-end-directed organelle transport along microtubule [TAS]
- peptidyl-cysteine methylation [IDA]
- protein localization to Golgi apparatus [IDA]
- protein targeting to Golgi [IDA]
- retrograde transport, endosome to Golgi [IBA]
- retrograde vesicle-mediated transport, Golgi to ER [TAS]
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