DISEASES

Disease-gene associations mined from literature

Literature on ANKRD27

ANKRD27 [ENSP00000304292]

Ankyrin repeat domain-containing protein 27; May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation . Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 . Required for the colocalization of VAMP7 and Rab21, probably on TGN sites . Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 . Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). ECO:0000269|PubMed:23104059, ECO:0000269|PubMed:24856514, ECO:0000305|PubMed:16525121, ECO:0000305|PubMed:18477474,

Synonyms:  ANKRD27,  ANKRD27p,  hANKRD27,  K7EIH4,  K7EIN0 ...

Linkouts:  STRING  Pharos  UniProt