RAB44: A Member of the RAS Oncogene Family
Gene Overview and Functional Insights
Gene Information Card
| Symbol | RAB44 |
|---|---|
| Full Name | RAB44, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 401466 ncbi.nlm.nih.gov/gene/401466 |
| Ensembl ID | ENSG00000197969 |
| UniProt ID | Q5VU65 |
| OMIM ID | 618013 |
| HGNC ID | 26726 |
| Aliases | FLJ32743, RAB44 |
Description
RAB44 is a protein-coding gene belonging to the RAS oncogene family of small GTPases. It is involved in intracellular vesicle trafficking and membrane transport. The gene is located on chromosome 6p21.1 and encodes a protein of 247 amino acids. RAB44 is expressed in various tissues and has been implicated in immune regulation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 4.2 | Low |
| Lymph node | 3.1 | Low |
| Spleen | 2.8 | Low |
| Bone marrow | 2.5 | Low |
| Other tissues | <2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.5 | Low expression |
| K562 | 2.9 | Low expression |
| HeLa | 2.1 | Low expression |
| HepG2 | 1.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular vesicle | • membrane |
Pathways
• Vesicle-mediated transport
• RAB GTPase signaling
Protein Summary
The RAB44 protein is a small GTPase of the RAS superfamily, characterized by GTP-binding and GTPase activity. It localizes to intracellular vesicles and membranes, suggesting a role in vesicle trafficking. Structural features include a conserved G domain and C-terminal prenylation motifs. No functional studies have been published to date.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB44 Knockout HEK293 Cell Line | EDJ-KQ3446 | Human | 401258 | Details Get a Quote |
| RAB44 Knockout HeLa Cell Line | EDJ-KQ60293 | Human | 401258 | Details Get a Quote |
| RAB44 Knockout A-549 Cell Line | EDJ-KQ68758 | Human | 401258 | Details Get a Quote |
| RAB44 Knockout HCT 116 Cell Line | EDJ-KQ77124 | Human | 401258 | Details Get a Quote |
