RAB41
RAB41, member RAS oncogene family
Gene Information Card
| Symbol | RAB41 |
|---|---|
| Full Name | RAB41, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 347517 ncbi.nlm.nih.gov/gene/347517 |
| Ensembl ID | ENSG00000147133 |
| UniProt ID | Q5JT25 |
| OMIM ID | 300694 |
| HGNC ID | 30291 |
| Aliases | FLJ32389 |
Description
RAB41 is a member of the RAB family of small GTPases, which are key regulators of intracellular membrane trafficking. It is located on the X chromosome and encodes a protein involved in vesicle transport and membrane dynamics. RAB41 is expressed in various tissues and has been implicated in cancer through somatic mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Somatic mutations in RAB41 may alter GTPase activity, affecting vesicle trafficking and cell proliferation. | COSMIC database reports mutations in multiple cancer types. |
| Breast cancer | Missense mutations observed in breast cancer samples; potential role in tumorigenesis. | COSMIC; ClinVar (limited entries). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 9.8 | Medium |
| Adrenal gland | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney; moderate expression |
| HeLa | 10.1 | Cervical cancer; moderate expression |
| MCF7 | 7.8 | Breast cancer; low expression |
| A549 | 6.3 | Lung cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.1% | Unknown; predicted benign by SIFT |
| c.347G>A (p.Arg116Gln) | Missense | <0.1% | Unknown; predicted possibly damaging by PolyPhen |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • vesicle-mediated transport |
| • membrane |
Pathways
• Vesicle-mediated transport
• RAB GTPase signaling
Protein Summary
The RAB41 protein is a small GTPase of the RAB family, approximately 23 kDa in size. It cycles between an active GTP-bound and inactive GDP-bound state, regulating vesicle trafficking and membrane fusion. Its precise cellular functions remain under investigation, but it is thought to participate in endocytic and exocytic pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB41 Knockout HEK293 Cell Line | EDJ-KQ14981 | Human | 347517 | Details Get a Quote |
| RAB41 Knockout HeLa Cell Line | EDJ-KQ59819 | Human | 347517 | Details Get a Quote |
| RAB41 Knockout A-549 Cell Line | EDJ-KQ68288 | Human | 347517 | Details Get a Quote |
| RAB41 Knockout HCT 116 Cell Line | EDJ-KQ76662 | Human | 347517 | Details Get a Quote |
