RAB7A Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
RAB7A
Official Name
RAB7A, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:9788]
Ensembl ID
ENSG00000075785
Bio databases IDs NCBI: 7879 Ensembl: ENSG00000075785
Aliases RAB7A, member RAS oncogene family
Synonyms CMT2B, PRO2706, RAB7, RAB7A, member RAS oncogene family, RAB7, member RAS oncogene family, Ras Related Protein p23
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RAB7A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Small GTPase of the Ras superfamily (ill-defined subfamily)
  • Ras family
  • small monomeric GTPase
  • 50S ribosome-binding GTPase
  • alpha helix
  • enzyme binding
  • GTPase
  • enzyme
  • protein binding
  • prenylation site
  • Ras subfamily of RAS small GTPases
  • GTP binding
  • CXC prenylation site
  • binding protein
  • small GTP-binding protein domain
  • GDP binding
  • Rab subfamily of small GTPases
  • Elongation factor Tu GTP binding domain
  • Ras of Complex, Roc, domain of DAPkinase
  • Rho (Ras homology) subfamily of Ras-like small GTPases
  • P-loop containing Nucleoside Triphosphate Hydrolases

Pathways

Biological processes and signaling networks where the RAB7A gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • non-insulin-dependent diabetes mellitus
  • organismal death
  • Charcot-Marie-Tooth disease type 2
  • papillary renal cell carcinoma
  • papillary renal cell neoplasia
  • renal cell cancer
  • Charcot-Marie-Tooth disease axonal, type 2B
  • urothelial bladder carcinoma
  • transitional cell bladder cancer
  • hepatocellular carcinoma
regulated by
regulates
role in cell
  • quantity
  • formation
  • formation in
  • expression in
  • migration
  • Gap 0-Gap 1 phase
  • phosphorylation in
  • invasion by
  • survival
  • activation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • pH resistant lipid raft fraction
  • detergent resistant lipid raft fraction
  • synaptic vesicle membrane
  • glutaminergic synapse
  • intracellular membrane-bounded organelle
  • exocytic vesicle
  • perinuclear region
  • cellular membrane
  • vacuole
  • Plasma Membrane
  • endosomes
  • vesicles
  • lysosome
  • Golgi Apparatus
  • Mitochondria
  • secretory granule membrane
  • lipid droplets
  • cytosol
  • Golgi membrane
  • lysosome membrane
  • endosomal compartment
  • endosomal membrane
  • alveolar epithelial lamellar bodies
  • late endosomes
  • perinuclear vesicles
  • cytoplasmic vesicles
  • endocytotic vesicle
  • smooth endoplasmatic reticulum
  • rough endoplasmatic reticulum
  • axons
  • exosomes
  • phagosomes
  • detergent-soluble fraction
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RAB7A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein to membrane docking
  • intracellular transport
  • protein transport
  • epidermal growth factor catabolic process
  • positive regulation of protein catabolic process
  • phagosome-lysosome fusion
  • positive regulation of viral reproduction
  • phagosome maturation
  • endosome to lysosome transport
  • phagosome acidification
  • retrograde transport, endosome to Golgi
  • endocytosis
  • protein targeting to lysosome
  • autophagic vacuole assembly
  • response to bacterium
  • release of virus from host
  • bone resorption
  • establishment of vesicle localization
  • lipid catabolic process
  • early endosome to late endosome transport

Cellular Component

Where in the cell the gene product is active
  • melanosome membrane
  • pre-autophagosomal structure membrane
  • phagocytic vesicle
  • late endosome
  • Golgi apparatus
  • lysosomal membrane
  • autophagic vacuole membrane
  • plasma membrane
  • lysosome
  • lipid particle
  • late endosome membrane
  • secretory granule membrane
  • extracellular vesicular exosome
  • mitochondrial membrane
  • mitochondrion
  • retromer complex
  • phagocytic vesicle membrane
  • cytosol
  • endosome membrane
  • synaptic vesicle membrane
  • alveolar lamellar body

Molecular Function

What the gene product does at the molecular level
  • GTP binding
  • protein binding
  • GTPase activity
  • small monomeric GTPase activity
  • GDP binding
  • small GTPase binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.