RAB7A
RAB7A, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB7A |
|---|---|
| Full Name | RAB7A, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 7879 ncbi.nlm.nih.gov/gene/7879 |
| Ensembl ID | ENSG00000075785 |
| UniProt ID | P51149 |
| OMIM ID | 602298 |
| HGNC ID | 9788 |
| Aliases | RAB7, PRO2706 |
Description
RAB7A encodes a small GTPase of the Rab family that regulates late endosomal trafficking, lysosomal degradation, and autophagy. It cycles between active GTP-bound and inactive GDP-bound states to control vesicle transport from early to late endosomes and lysosomes. Mutations in RAB7A cause Charcot-Marie-Tooth disease type 2B (CMT2B), a peripheral neuropathy characterized by distal sensory loss and ulcerations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 2B | Dominant-negative mutations impair endosomal trafficking and axonal transport, leading to peripheral nerve degeneration. | ClinVar, OMIM |
| Hereditary sensory neuropathy type 1C | Same mechanism as CMT2B; overlapping clinical features. | OMIM |
| Lung cancer | RAB7A overexpression may promote tumor invasion and metastasis via altered endosomal signaling. | COSMIC, NCBI |
| Melanoma | RAB7A dysregulation affects autophagy and lysosomal function, contributing to tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Muscle | 6.7 | Low |
| Skin | 14.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| A549 | 22.3 | Lung carcinoma cell line |
| HEK293 | 15.0 | Embryonic kidney cell line |
| SH-SY5Y | 12.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.471G>A (p.Trp157Ter) | Nonsense | Rare | Loss of function; associated with CMT2B |
| c.491C>T (p.Thr164Ile) | Missense | Rare | Dominant-negative; impairs GTP binding and endosomal trafficking |
| c.548G>A (p.Arg183Gln) | Missense | Rare | Dominant-negative; disrupts effector interaction |
| c.580C>T (p.Arg194Cys) | Missense | Rare | Dominant-negative; reduces GTPase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp157Ter) lead to truncated protein and loss of function.
Gain of Function (GOF)
Not reported for RAB7A.
Dominant Negative (DN)
Missense mutations (e.g., p.Thr164Ile, p.Arg183Gln, p.Arg194Cys) act as dominant-negative by impairing nucleotide binding or effector interaction, disrupting vesicle transport.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • endosomal transport |
| • autophagy | • late endosome to lysosome transport |
| • intracellular protein transport | • vesicle-mediated transport |
Pathways
• Endocytosis
• Autophagy
• Lysosome
• Rab regulation of trafficking
Protein Summary
RAB7A is a 207-amino-acid small GTPase that localizes to late endosomes and lysosomes. It regulates membrane trafficking, endosomal maturation, and autophagy by cycling between active GTP-bound and inactive GDP-bound states. Mutations in RAB7A cause Charcot-Marie-Tooth disease type 2B through dominant-negative effects that disrupt axonal transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB7A Knockout HEK293 Cell Line | EDJ-KQ3022 | Human | 7879 | Details Get a Quote |
| RAB7A Knockout A-549 Cell Line | EDJ-KQ22873 | Human | 7879 | Details Get a Quote |
| RAB7A Knockout HCT 116 Cell Line | EDJ-KQ24242 | Human | 7879 | Details Get a Quote |
| RAB7A Knockout HeLa Cell Line | EDJ-KQ24243 | Human | 7879 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
