RAB5C

Chr 17q21.2

RAB5C, member RAS oncogene family

Aliases:: RAB5CL
MANE:: ENST00000346213.9

OMIM: 604037 ↗NCBI: 5878 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RAB5C · P51148

v62025-08-01

Predicted Aligned Error matrix for RAB5C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.3/ 100

Confident

216 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)5%
Low(50–70)1%
Very low(< 50)20%

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
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodevelopmental disorder
0.51
hypothyroidism
0.33
Hashimoto thyroiditis
0.27
myxedema
0.25
hereditary disease
0.19
macrocephaly-developmental delay syndrome
0.12
ovarian dysfunction
0.10
autoimmune disease
0.10
autoimmune thyroid disease
0.09
coronary artery disorder
0.07

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

Protein function (UniProt)

Ras-related protein Rab-5C

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:16086013, PubMed:17562788). Involved in early endocytic trafficking (PubMed:16086013, PubMed:17562788). Required for EEA1 recruitment to early endosomes (PubMed:16086013, PubMed:17562788). Required for EGF and transferrin endocytosis and trafficking through early endosomes (PubMed:16086013, PubMed:17562788)