InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB7A

Summary

InnateDB Protein

IDBP-55281.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RAB7A

Protein Name

RAB7A, member RAS oncogene family

Synonyms

PRO2706; RAB7;

Species

Homo sapiens

Ensembl Protein

ENSP00000265062

InnateDB Gene

IDBG-55277 (RAB7A)

Protein Structure

UniProt Annotation

Function

Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient- transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA. Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. {ECO:0000269PubMed:11179213, ECO:0000269PubMed:12944476, ECO:0000269PubMed:14617358, ECO:0000269PubMed:20028791, ECO:0000269PubMed:21255211}.

Subcellular Localization

Late endosome. Lysosome {ECO:0000250}. Cytoplasmic vesicle, phagosome {ECO:0000250}. Melanosome {ECO:0000250}. Cytoplasmic vesicle, phagosome membrane; Lipid- anchor; Cytoplasmic side. Note=Colocalizes with OSBPL1A at the late endosome. Found in the ruffled border (a late endosomal-like compartment in the plasma membrane) of bone-resorbing osteoclasts. Recruited to phagosomes containing S.aureus or Mycobacterium (By similarity). {ECO:0000250}.

Disease Associations

Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269PubMed:12545426, ECO:0000269PubMed:15455439, ECO:0000269PubMed:17060578}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed; high expression found in skeletal muscle. {ECO:0000269PubMed:12545426}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 54 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	54 [view]
Protein-Protein	53 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0019003	GDP binding
GO:0048365	Rac GTPase binding

Biological Process

GO:0006184	GTP catabolic process
GO:0006622	protein targeting to lysosome
GO:0006886	intracellular protein transport
GO:0006897	endocytosis
GO:0006913	nucleocytoplasmic transport
GO:0007165	signal transduction
GO:0007174	epidermal growth factor catabolic process
GO:0007264	small GTPase mediated signal transduction
GO:0008219	cell death
GO:0008333	endosome to lysosome transport
GO:0015031	protein transport
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0045022	early endosome to late endosome transport
GO:0045453	bone resorption
GO:0090382	phagosome maturation
GO:0090383	phagosome acidification
GO:0090385	phagosome-lysosome fusion

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0005770	late endosome
GO:0005794	Golgi apparatus
GO:0016020	membrane
GO:0030670	phagocytic vesicle membrane
GO:0031410	cytoplasmic vesicle
GO:0042470	melanosome
GO:0043231	intracellular membrane-bounded organelle
GO:0045335	phagocytic vesicle
GO:0070062	extracellular vesicular exosome
GO:0097208	alveolar lamellar body

Protein Structure and Domains

PDB ID

InterPro

IPR000795 Elongation factor, GTP-binding domain
IPR001806 Small GTPase superfamily
IPR002041 Ran GTPase
IPR003578 Small GTPase superfamily, Rho type
IPR003579 Small GTPase superfamily, Rab type
IPR005225 Small GTP-binding protein domain
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR006762 Gtr1/RagA G protein
IPR013684 Mitochondrial Rho-like
IPR020849 Small GTPase superfamily, Ras type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00009
PF00071
PF00025
PF04670
PF08477

PRINTS

PR00315
PR00449
PR00627
PR00328

PIRSF

SMART

SM00176
SM00174
SM00175
SM00173

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt