RAB35: A Key Regulator of Endocytic Recycling and Cytokinesis
Comprehensive gene card, expression, mutations, and disease associations for RAB35
Gene Information Card
| Symbol | RAB35 |
|---|---|
| Full Name | RAB35, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.23 |
| NCBI Gene ID | 11021 ncbi.nlm.nih.gov/gene/11021 |
| Ensembl ID | ENSG00000111737 |
| UniProt ID | Q15286 |
| OMIM ID | 604199 |
| HGNC ID | 9774 |
| Aliases | RAB1C, RAY |
Description
RAB35 is a member of the RAS oncogene family of small GTPases. It functions as a key regulator of endocytic recycling, cytokinesis, and cell signaling. RAB35 cycles between an active GTP-bound form and an inactive GDP-bound form, controlling membrane trafficking from endosomes to the plasma membrane. It is involved in neurite outgrowth, immune synapse formation, and actin remodeling. Dysregulation of RAB35 has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB35 expression and mutations disrupt endocytic recycling and cell signaling, promoting tumorigenesis. | COSMIC; PMID: 25691885 |
| Alzheimer's disease | RAB35 regulates amyloid precursor protein (APP) trafficking; dysfunction may contribute to Aβ accumulation. | PMID: 22956769 |
| Intellectual disability | RAB35 mutations impair neurite outgrowth and synaptic function. | PMID: 28264884 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Spleen | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney cells; high expression |
| HeLa | 11.8 | Cervical cancer cells; moderate expression |
| A549 | 9.2 | Lung cancer cells; low expression |
| SH-SY5Y | 13.1 | Neuroblastoma cells; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.67C>T (p.Arg23Cys) | Missense | Rare | Alters GTP binding; potential loss of function |
| c.80G>A (p.Arg27His) | Missense | Rare | Impairs membrane localization; dominant-negative effect |
| c.101A>G (p.Asn34Ser) | Missense | Rare | Reduced GTPase activity; gain of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair GTP binding or hydrolysis (e.g., p.Arg23Cys) reduce RAB35 activity, disrupting endocytic recycling.
Gain of Function (GOF)
Mutations that lock RAB35 in the active GTP-bound state (e.g., p.Asn34Ser) enhance downstream signaling.
Dominant Negative (DN)
Mutations that prevent nucleotide exchange (e.g., p.Arg27His) interfere with wild-type RAB35 function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • endocytic recycling |
| • cytokinesis | • cell division |
| • intracellular protein transport | • regulation of cell shape |
Pathways
• Endocytosis
• Endosomal recycling
• Cytokinesis
• RAB regulation of trafficking
Protein Summary
RAB35 is a small GTPase of the RAS superfamily, 201 amino acids in length. It localizes to endosomes and the plasma membrane, where it regulates endocytic recycling and cytokinesis. The protein contains conserved G-box motifs for nucleotide binding and hydrolysis. Post-translational prenylation at the C-terminus is essential for membrane association. RAB35 interacts with effectors such as MICAL-L1 and OCRL to coordinate actin dynamics and membrane remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB35 Knockout HEK293 Cell Line | EDJ-KQ7249 | Human | 11021 | Details Get a Quote |
| RAB35 Knockout A-549 Cell Line | EDJ-KQ32245 | Human | 11021 | Details Get a Quote |
| RAB35 Knockout HCT 116 Cell Line | EDJ-KQ32246 | Human | 11021 | Details Get a Quote |
| RAB35 Knockout HeLa Cell Line | EDJ-KQ32247 | Human | 11021 | Details Get a Quote |
