RAB7A
Ras-related protein Rab-7a
Also known as: CMT2B, RAB7, RAB7A_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P51149
- Gene
- RAB7A
- Ensembl
- ENSG00000075785
- Chromosome
- 3
- Canonical length
- 207 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
- Subcellular location
- Lysosomes,Primary cilium transition zone
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
207 residues, UniProt reviewed canonical sequence.
>P51149|RAB7A
1 MTSRKKVLLK VIILGDSGVG KTSLMNQYVN KKFSNQYKAT IGADFLTKEV MVDDRLVTMQ
61 IWDTAGQERF QSLGVAFYRG ADCCVLVFDV TAPNTFKTLD SWRDEFLIQA SPRDPENFPF
121 VVLGNKIDLE NRQVATKRAQ AWCYSKNNIP YFETSAKEAI NVEQAFQTIA RNALKQETEV
181 ELYNEFPEPI KLDKNDRAKA SAESCSCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAB7A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 311 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 311 nTPM
- tongue: 233 nTPM
- choroid plexus: 214 nTPM
- spinal cord: 181 nTPM
- heart muscle: 175 nTPM
- midbrain: 174 nTPM
Single-cell type
- neutrophils: 2,579 nCPM
- esophageal apical cells: 2,095 nCPM
- monocytes: 1,085 nCPM
- endometrial glandular cells: 1,035 nCPM
- esophageal suprabasal cells: 1,004 nCPM
- macrophages: 865 nCPM
Immune cell
- neutrophil: 375 nTPM
- eosinophil: 214 nTPM
- non-classical monocyte: 205 nTPM
- total PBMC: 201 nTPM
- myeloid DC: 200 nTPM
- basophil: 196 nTPM
Brain region
- cerebral cortex: 285 nTPM
- white matter: 236 nTPM
- pons: 209 nTPM
- medulla oblongata: 202 nTPM
- hypothalamus: 201 nTPM
- thalamus: 201 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAB7A.
Disease | AllUniProt
Conditions RAB7A is implicated in, by any mechanism.
- Charcot-Marie-Tooth disease, axonal, type 2B (CMT2B) MIM:600882
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 214 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Charcot-Marie-Tooth disease type 2B
- Charcot-Marie-Tooth disease
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.97
- gnomAD missense Z
- 2.28
- DepMap mean gene effect
- -0.57
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome assembly
- bone resorption
- early endosome to late endosome transport
- endocytosis
- endosome to lysosome transport
- endosome to plasma membrane protein transport
- epidermal growth factor catabolic process
- establishment of vesicle localization
- lipid catabolic process
- lipophagy
- negative regulation of exosomal secretion
- negative regulation of intralumenal vesicle formation
- neurotransmitter receptor transport, postsynaptic endosome to lysosome
- phagosome acidification
- phagosome maturation
- phagosome-lysosome fusion
- positive regulation of exosomal secretion
- positive regulation of protein catabolic process
- positive regulation of viral process
- protein localization to lysosome
- protein targeting to lysosome
- protein to membrane docking
- protein transport
- response to bacterium
- retrograde transport, endosome to Golgi
- viral release from host cell
- synaptic vesicle recycling via endosome
Molecular functions
Cellular components
- alveolar lamellar body
- autophagosome membrane
- ciliary transition zone
- cytosol
- endosome membrane
- extracellular exosome
- glutamatergic synapse
- Golgi apparatus
- late endosome
- late endosome membrane
- lipid droplet
- lysosomal membrane
- lysosome
- melanosome membrane
- mitochondrial membrane
- mitochondrion
- phagocytic vesicle
- phagocytic vesicle membrane
- phagophore assembly site membrane
- plasma membrane
- presynaptic endosome
- secretory granule membrane
- synaptic vesicle membrane
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
- Acetylation
- Autophagy
- Charcot-Marie-Tooth disease
- Cytoplasmic vesicle
- Endosome
- GTP-binding
- Host-virus interaction
- Hydrolase
- Isopeptide bond
- Lipid degradation
- Lipid droplet
- Lipid metabolism
- Lipoprotein
- Lysosome
- Membrane
- Methylation
- Mitochondrion
- Neurodegeneration
- Neuropathy
- Nucleotide-binding
- Phosphoprotein
- Prenylation
- Protein transport
- Transport
- Ubl conjugation
InteractionsUniProt · HPA
Protein binding partners of RAB7A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RAB7A as an antibody target. Whether an autoantibody or antibody against RAB7A could matter depends on whether native RAB7A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAB7A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RAB7A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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