DISEASES

Disease-gene associations mined from literature

Literature associating TRAF3IP1 and short-rib thoracic dysplasia 6 with or without polydactyly

TRAF3IP1 [ENSP00000362424]

TNF receptor-associated factor 3 interacting protein 1; Plays an inhibitory role on IL13 signaling by binding to IL13RA1. Involved in suppression of IL13-induced STAT6 phosphorylation, transcriptional activity and DNA-binding. Recruits TRAF3 and DISC1 to the microtubules. Involved in kidney development and epithelial morphogenesis. Involved in the regulation of microtubule cytoskeleton organization. Is a negative regulator of microtubule stability, acting through the control of MAP4 levels. Involved in ciliogenesis (By similarity); Intraflagellar transport proteins

Synonyms:  TRAF3IP1,  H7BZ10,  Q8TDR0,  H7BZ10p,  hH7BZ10 ...

Linkouts:  STRING  Pharos  UniProt  OMIM