RAB9A
Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB9A |
|---|---|
| Full Name | RAB9A, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 9367 ncbi.nlm.nih.gov/gene/9367 |
| Ensembl ID | ENSG00000123562 |
| UniProt ID | P51151 |
| OMIM ID | 300284 |
| HGNC ID | 9792 |
| Aliases | RAB9, RAB9A |
Description
RAB9A is a member of the RAS oncogene family of small GTPases. It is involved in endosomal trafficking, specifically in the recycling of mannose-6-phosphate receptors from late endosomes to the trans-Golgi network. RAB9A regulates vesicle docking and fusion, and its expression is altered in certain cancers and infectious diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Choroideremia | RAB9A interacts with REP1 (CHM); loss of REP1 leads to mislocalization of RAB9A and retinal degeneration. | PMID: 10615123 |
| Niemann-Pick disease type C | RAB9A overexpression rescues cholesterol trafficking defects in NPC1-deficient cells. | PMID: 10837476 |
| Melanoma | RAB9A is overexpressed in melanoma cell lines and promotes tumor growth. | PMID: 21804533 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 9.2 | Medium |
| Brain | 6.8 | Low |
| Liver | 12.5 | Medium |
| Lung | 15.3 | Medium |
| Skin | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| A375 | 22.1 | Melanoma cell line |
| HepG2 | 11.5 | Hepatocellular carcinoma cell line |
| MCF7 | 8.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.337C>T (p.Arg113Trp) | missense | <0.01% | Unknown significance; located in GTP-binding domain |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants in the GTP-binding domain may impair nucleotide binding and vesicle trafficking.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • endosome to Golgi transport |
| • vesicle docking |
Pathways
• Endosomal recycling
• Vesicle-mediated transport
• RAB9A-mediated retrograde transport
Protein Summary
RAB9A is a small GTPase (approximately 23 kDa) that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to late endosomes and regulates the transport of mannose-6-phosphate receptors to the trans-Golgi network. RAB9A is essential for proper lysosomal enzyme sorting and cholesterol homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB9A Knockout HEK293 Cell Line | EDJ-KQ6564 | Human | 9367 | Details Get a Quote |
| RAB9A Knockout A-549 Cell Line | EDJ-KQ30767 | Human | 9367 | Details Get a Quote |
| RAB9A Knockout HCT 116 Cell Line | EDJ-KQ30768 | Human | 9367 | Details Get a Quote |
| RAB9A Knockout HeLa Cell Line | EDJ-KQ30769 | Human | 9367 | Details Get a Quote |
