RAB27A

Chr 15q21.3

RAB27A, member RAS oncogene family

Aliases:: RAB27, RAM, GS2, HsT18676
MANE:: ENST00000336787.6

OMIM: 603868 ↗NCBI: 5873 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

RAB27A · P51159

v62025-08-01

Predicted Aligned Error matrix for RAB27A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.9/ 100

Confident

221 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)22%
Low(50–70)3%
Very low(< 50)13%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Vici Syndrome and other autophagy disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability

Disease associations (Open Targets)

Griscelli syndrome type 2
0.81
Griscelli disease
0.73
Griscelli disease type 2
0.73
Griscelli syndrome
0.50
autoinflammatory syndrome
0.50
hereditary disease
0.45
acrocephalopolydactyly
0.37
complex regional pain syndrome
0.32
Increased total eosinophil count
0.26
CINCA syndrome
0.18

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ras-related protein Rab-27A

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:30771381). RAB27A regulates homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse (PubMed:18812475)