ANKRD27
Description
The ANKRD27 (ankyrin repeat domain 27) is a protein-coding gene located on chromosome 19.
Ankyrin repeat domain-containing protein 27 is a protein that in humans is encoded by the ANKRD27 gene.
ANKRD27 may act as a guanine exchange factor (GEF) for Rab21, Rab32, and Rab38, playing a role in regulating endosome dynamics. It may also influence membrane fusion events by regulating VAMP7, potentially inhibiting VAMP7-mediated SNARE complex formation by trapping VAMP7 in an inactive state. ANKRD27 participates in the distribution of TYRP1 within melanosomes, likely through vesicle trafficking, and interacts with Rab32, Rab38, and VAMP7 in this process. It also contributes to neurite growth, a function that appears to depend on its GEF activity towards Rab21 and VAMP7 but not Rab32/38. ANKRD27 is proposed to be involved in Golgi sorting of VAMP7 and the transport of VAMP7 vesicles to the cell surface, potentially through interactions with kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21, and MACF1. The protein is essential for the colocalization of VAMP7 and Rab21, likely at TGN sites. It also plays a role in GLUT1 endosome-to-plasma membrane trafficking, a function dependent on its association with VPS29. ANKRD27 regulates the proper trafficking of melanogenic enzymes, including TYR, TYRP1, and DCT/TYRP2, to melanosomes in melanocytes.
ANKRD27 is also known as PP12899, VARP.
Associated Diseases
- bradyopsia
- systemic lupus erythematosus
- Gollop-Wolfgang complex
- X-linked retinal dysplasia
- tibia, hypoplasia or aplasia of, with polydactyly
- Blount disease
- severe early-childhood-onset retinal dystrophy
- acheiropody
- syndactyly type 4
- acromesomelic dysplasia 2C, Hunter-Thompson type
