RAB7A - RAB7A, member RAS oncogene family Gene
Also Known as RAB7; CMT2B; PRO2706
Species: Homo sapiens
About RAB7A
This gene has 18 transcripts (splice variants), 277 orthologues, 68 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 104.7), fat (RPKM 97.2) and 25 other tissues.
Summary
RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]
RAB7A Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_004637.6 | NP_004628.4 | ras-related protein Rab-7a |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables GDP binding |
IDA
IDA: Inferred from direct assay
|
18272684 | GOA |
| enables GTP binding |
IDA
IDA: Inferred from direct assay
|
18272684 | GOA |
| enables GTPase activity |
IDA
IDA: Inferred from direct assay
|
18272684 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14617358 | GOA |
| enables retromer complex binding |
IMP
IMP: Inferred from mutant phenotype
|
27385586 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in endosome membrane |
IDA
IDA: Inferred from direct assay
|
22431521 | GOA |
| located in endosome membrane |
IMP
IMP: Inferred from mutant phenotype
|
26911690 | GOA |
| colocalizes with late endosome |
IDA
IDA: Inferred from direct assay
|
18272684 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
14617358 | GOA |
| colocalizes with lysosome |
IDA
IDA: Inferred from direct assay
|
18272684 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
15078902 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
34432599 | GOA |
| located in phagocytic vesicle |
IDA
IDA: Inferred from direct assay
|
21255211 | GOA |
| part of retromer complex |
IDA
IDA: Inferred from direct assay
|
19531583 | GOA |
RAB7A Protein Structure
Ras: Ras family (10 - 174)
- 0
- 100
- 207 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ras-related protein Rab-7a |
|
RAB7A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
RAB7A | P51149 | RILP | Homo sapiens | Q96NA2 | 32814053 | |
|
Intra
|
RAB7A | P51149 | RILP | Homo sapiens | Q96NA2 | 26496610 | |
|
Intra
|
RAB7A | P51149 | RILP | Homo sapiens | Q96NA2 | 32814053 | |
|
Intra
|
RAB7A | P51149 | RILP | Homo sapiens | Q96NA2 | 32814053 | |
|
Intra
|
RAB7A | P51149 | PLEKHM1 | Homo sapiens | Q9Y4G2 | 28325809 | |
|
Intra
|
RAB7A | P51149 | PLEKHM1 | Homo sapiens | Q9Y4G2 | 28325809 | |
|
Intra
|
RAB7A | P51149 | PLEKHM1 | Homo sapiens | Q9Y4G2 | 28325809 | |
|
Intra
|
RAB7A | P51149 | PLEKHM1 | Homo sapiens | Q9Y4G2 | 28325809 |
RAB7A Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80295 | RAB7 Antibody (YA110) | WB, IHC-P, ICC/IF, FC, IF-Tissue | Human, Mouse, Rat |
| HY-P86520 | RAB7 Antibody (YA6212) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b |
|
|
| Q Fever |
|
|
| Neuropathy |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Osteopetrosis |
|
|
| Choroideremia |
|
|
| Tooth Disease |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Pontocerebellar Hypoplasia, Type 2e |
|
|
| Rabies |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
|
| Vici Syndrome |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2l |
|
|
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
|
| Charcot-Marie-Tooth Disease, Type 4j |
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
|
| Legionnaire Disease |
|
|
| Mucolipidosis Iv |
|
|
| Legionellosis |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
|
| Carpenter Syndrome 1 |
|
|
| Niemann-Pick Disease, Type C1 |
|
|
| Neuropathy, Hereditary Sensory, Type Id |
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
|
| C Syndrome |
|
|
| Cataract 44 |
|
|
| Warburg Micro Syndrome 1 |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Niemann-Pick Disease |
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
|
| Mucolipidosis |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Neuromuscular Disease |
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Peripheral Nervous System Disease |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | RAB7A | VGNC | VGNC:81548 |
| Canis familiaris | RAB7A | VGNC | VGNC:45293 |
| Rattus norvegicus | RAB7A | RGD | RGD:61908 |
| Mus musculus | RAB7A | MGD | MGI:105068 |
| Bos taurus | RAB7A | VGNC | VGNC:33660 |
| Others | RAB7A | NCBI |