Aliases for TGFBRAP1 Gene
External Ids for TGFBRAP1 Gene
Previous GeneCards Identifiers for TGFBRAP1 Gene
GeneCards Summary for TGFBRAP1 Gene
TGFBRAP1 (Transforming Growth Factor Beta Receptor Associated Protein 1) is a Protein Coding gene. Diseases associated with TGFBRAP1 include arthrogryposis, renal dysfunction, and cholestasis 1. Among its related pathways are SMAD Signaling Network and Development VEGF signaling via VEGFR2 - generic cascades. GO annotations related to this gene include SMAD binding and transforming growth factor beta receptor binding. An important paralog of this gene is VPS39.
UniProtKB/Swiss-Prot for TGFBRAP1 Gene
Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2.
Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes and in degradative but not recycling trafficking of endocytosed cargo (PubMed:25266290).