RAB1A

Chr 2p14

RAB1A, member RAS oncogene family

Aliases:: YPT1
MANE:: ENST00000409784.8

OMIM: 179508 ↗NCBI: 5861 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RAB1A · P62820

v62025-08-01

Predicted Aligned Error matrix for RAB1A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.7/ 100

Confident

205 residues

Confidence breakdown

Very high(≥ 90)68%
Confident(70–90)13%
Low(50–70)7%
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)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.50
atrial fibrillation
0.41
lysosomal storage disease
0.32
diabetes mellitus
0.27
myeloid leukemia
0.26
Abnormality of limbs
0.25
polyarteritis nodosa
0.24
complex neurodevelopmental disorder
0.18
colorectal carcinoma
0.11
hepatocellular carcinoma
0.11

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

Protein function (UniProt)

Ras-related protein Rab-1A

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:20639577, PubMed:20861236, PubMed:21303926, PubMed:22939626). 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:20639577, PubMed:20861236, PubMed:21303926, PubMed:22939626). RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secretion (PubMed:21303926). Required to modulate the compacted morphology of the Golgi (PubMed:26209634). Regulates the level of CASR present at the cell membrane (PubMed:20861236). Plays a role in cell adhesion and cell migration, via its role in protein trafficking (PubMed:20639577). Plays a role in autophagosome assembly and cellular defense reactions against pathogenic bacteria (PubMed:22939626). Plays a role in microtubule-dependent protein transport by early endosomes and in anterograde melanosome transport (By similarity)