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Aliases for RAB7A Gene

Aliases for RAB7A Gene

  • RAB7A, Member RAS Oncogene Family 2 3 5
  • RAB7, Member RAS Oncogene Family 2 3
  • RAB7 3 4
  • Ras-Associated Protein RAB7 3
  • PRO2706 3

External Ids for RAB7A Gene

Previous HGNC Symbols for RAB7A Gene

  • RAB7

Previous GeneCards Identifiers for RAB7A Gene

  • GC03P129928
  • GC03P128444
  • GC03P125832

Summaries for RAB7A Gene

Entrez Gene Summary for RAB7A 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]

GeneCards Summary for RAB7A Gene

RAB7A (RAB7A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB7A include charcot-marie-tooth disease, type 2b and choroideremia. Among its related pathways are Amoebiasis and Endocytosis. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB7B.

UniProtKB/Swiss-Prot for RAB7A Gene

  • 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 (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for RAB7A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB7A Gene

Genomics for RAB7A Gene

Regulatory Elements for RAB7A Gene

Enhancers for RAB7A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RAB7A on UCSC Golden Path with GeneCards custom track

Promoters for RAB7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB7A on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB7A Gene

Chromosome:
3
Start:
128,726,122 bp from pter
End:
128,814,798 bp from pter
Size:
88,677 bases
Orientation:
Plus strand

Genomic View for RAB7A Gene

Genes around RAB7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB7A Gene

Proteins for RAB7A Gene

  • Protein details for RAB7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51149-RAB7A_HUMAN
    Recommended name:
    Ras-related protein Rab-7a
    Protein Accession:
    P51149
    Secondary Accessions:
    • A8K3V6
    • Q9NWJ0
    • Q9UPB0

    Protein attributes for RAB7A Gene

    Size:
    207 amino acids
    Molecular mass:
    23490 Da
    Quaternary structure:
    • The GTP-bound form interacts with RAC1 (By similarity). Interacts with NTRK1/TRKA (By similarity). Interacts with C9orf72 (By similarity). Interacts with CHM, the substrate-binding subunit of the Rab geranylgeranyltransferase complex (By similarity). Interacts with RILP (PubMed:11179213, PubMed:14668488, PubMed:15933719, PubMed:20028791). Interacts with PSMA7 (PubMed:14998988). Interacts with RNF115 (PubMed:16925951). Interacts with FYCO1 (PubMed:20100911). Interacts with the PIK3C3/VPS34-PIK3R4 complex (PubMed:14617358). The GTP-bound form interacts with OSBPL1A (PubMed:16176980). Interacts with CLN3 (PubMed:22261744).
    SequenceCaution:
    • Sequence=BAA91390.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAF83410.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=EAW79303.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAB7A Gene

neXtProt entry for RAB7A Gene

Proteomics data for RAB7A Gene at MOPED

Post-translational modifications for RAB7A Gene

  • Ubiquitination at Lys 32, Lys 38, Lys 126, Lys 146, and Lys 191
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB7A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAB7A (Rab7)

No data available for DME Specific Peptides for RAB7A Gene

Domains & Families for RAB7A Gene

Gene Families for RAB7A Gene

Suggested Antigen Peptide Sequences for RAB7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51149

UniProtKB/Swiss-Prot:

RAB7A_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB7A: view

Function for RAB7A Gene

Molecular function for RAB7A Gene

UniProtKB/Swiss-Prot 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 (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
genes like me logo Genes that share phenotypes with RAB7A: view

Human Phenotype Ontology for RAB7A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAB7A Gene

MGI Knock Outs for RAB7A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RAB7A Gene

Localization for RAB7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB7A Gene

Cytoplasmic vesicle, phagosome membrane; Peripheral membrane protein; Cytoplasmic side. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, autophagosome membrane; Peripheral membrane protein; Cytoplasmic side. Lipid droplet. Note=Colocalizes with OSBPL1A at the late endosome (PubMed:16176980). 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 (PubMed:21255211). Lipid droplet localization is increased upon ADRB2 stimulation (By similarity). {ECO:0000250 UniProtKB:P51150, ECO:0000269 PubMed:16176980, ECO:0000269 PubMed:21255211}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB7A Gene COMPARTMENTS Subcellular localization image for RAB7A gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 5
vacuole 5
cytosol 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 colocalizes_with lysosome IDA 18272684
GO:0005770 colocalizes_with late endosome IEA,IDA 18272684
GO:0030904 colocalizes_with retromer complex IDA 19531583
GO:0031902 late endosome membrane IEA,ISS --
GO:0032419 extrinsic component of lysosome membrane IEA,ISS --
genes like me logo Genes that share ontologies with RAB7A: view

Pathways & Interactions for RAB7A Gene

genes like me logo Genes that share pathways with RAB7A: view

Gene Ontology (GO) - Biological Process for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006622 protein targeting to lysosome IMP 22115783
GO:0006897 endocytosis TAS 2115402
GO:0006913 nucleocytoplasmic transport IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0008333 endosome to lysosome transport IMP 18272684
genes like me logo Genes that share ontologies with RAB7A: view

No data available for SIGNOR curated interactions for RAB7A Gene

Drugs & Compounds for RAB7A Gene

(4) Drugs for RAB7A Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0

(8) Additional Compounds for RAB7A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB7A: view

Transcripts for RAB7A Gene

Unigene Clusters for RAB7A Gene

RAB7A, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB7A Gene

No ASD Table

Relevant External Links for RAB7A Gene

GeneLoc Exon Structure for
RAB7A
ECgene alternative splicing isoforms for
RAB7A

Expression for RAB7A Gene

mRNA expression in normal human tissues for RAB7A Gene

mRNA differential expression in normal tissues according to GTEx for RAB7A Gene

This gene is overexpressed in Whole Blood (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB7A Gene



SOURCE GeneReport for Unigene cluster for RAB7A Gene Hs.744853

mRNA Expression by UniProt/SwissProt for RAB7A Gene

P51149-RAB7A_HUMAN
Tissue specificity: Widely expressed; high expression found in skeletal muscle.
genes like me logo Genes that share expression patterns with RAB7A: view

Protein tissue co-expression partners for RAB7A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues for RAB7A Gene

Orthologs for RAB7A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB7A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAB7A 35
  • 89.05 (n)
  • 98.07 (a)
RAB7A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB7A 35
  • 95.01 (n)
  • 99.52 (a)
RAB7A 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab7 35
  • 91.3 (n)
  • 100 (a)
Rab7 16
Rab7 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB7A 35
  • 99.84 (n)
  • 100 (a)
RAB7A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab7a 35
  • 91.95 (n)
  • 99.52 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB7A 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB7A 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB7A 35
  • 86.96 (n)
  • 99.03 (a)
RAB7A 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB7A 36
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab7a 35
  • 83.57 (n)
  • 97.1 (a)
Str.4511 35
zebrafish
(Danio rerio)
Actinopterygii rab7 35
  • 81.48 (n)
  • 97.58 (a)
zgc64058 35
rab7 36
  • 98 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3471 35
fruit fly
(Drosophila melanogaster)
Insecta Rab7 36
  • 76 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rab-7 36
  • 70 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR003C 35
  • 63.88 (n)
  • 64.04 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01265g 35
  • 60.53 (n)
  • 62.19 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT7 35
  • 61.41 (n)
  • 64.04 (a)
YPT7 36
  • 63 (a)
OneToMany
YPT7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons RAB7B 35
  • 65.85 (n)
  • 69.95 (a)
rice
(Oryza sativa)
Liliopsida Os.11710 35
Os05g0516600 35
  • 67.49 (n)
  • 70.94 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5944 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03711 35
  • 70.96 (n)
  • 77.72 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ypt7 35
  • 61.58 (n)
  • 66.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7257 36
  • 76 (a)
OneToOne
Species with no ortholog for RAB7A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB7A Gene

ENSEMBL:
Gene Tree for RAB7A (if available)
TreeFam:
Gene Tree for RAB7A (if available)

Paralogs for RAB7A Gene

Paralogs for RAB7A Gene

Pseudogenes.org Pseudogenes for RAB7A Gene

genes like me logo Genes that share paralogs with RAB7A: view

Variants for RAB7A Gene

Sequence variations from dbSNP and Humsavar for RAB7A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121909078 Charcot-Marie-Tooth disease 2B (CMT2B) 128,806,576(+) TTGAC(C/T)TCGAA reference, missense
rs121909079 Charcot-Marie-Tooth disease 2B (CMT2B) 128,807,627(+) TCAAC(A/G)TGGAG reference, missense
rs11549759 - 128,797,983(+) ATAAG(A/G)AATTC reference, missense
rs121909081 Charcot-Marie-Tooth disease 2B (CMT2B) 128,807,614(+) GCCAA(C/G)GAGGC reference, missense
rs121909080 Charcot-Marie-Tooth disease 2B (CMT2B) 128,807,625(+) CATCA(A/C)CGTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RAB7A Gene

Variant ID Type Subtype PubMed ID
nsv437853 CNV Loss 16327808
esv2676268 CNV Deletion 23128226
nsv877465 CNV Gain 21882294

Variation tolerance for RAB7A Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB7A Gene

HapMap Linkage Disequilibrium report
RAB7A
Human Gene Mutation Database (HGMD)
RAB7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB7A Gene

Disorders for RAB7A Gene

MalaCards: The human disease database

(11) MalaCards diseases for RAB7A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2b
  • charcot-marie-tooth disease type 2b
choroideremia
  • choroidal sclerosis
charcot-marie-tooth disease
  • dejerine-sottas disease
argentine hemorrhagic fever
  • argentinian hemorrhagic fever
tabes dorsalis
  • posterior spinal sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search RAB7A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAB7A_HUMAN
  • 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:0000269 PubMed:12545426, ECO:0000269 PubMed:15455439, ECO:0000269 PubMed:17060578}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB7A

Genetic Association Database (GAD)
RAB7A
Human Genome Epidemiology (HuGE) Navigator
RAB7A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB7A
genes like me logo Genes that share disorders with RAB7A: view

No data available for Genatlas for RAB7A Gene

Publications for RAB7A Gene

  1. Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. (PMID: 9126495) Davies J.P. … Ioannou Y.A. (Genomics 1997) 2 3 4 23 67
  2. Genes for hereditary sensory and autonomic neuropathies: a genotype- phenotype correlation. (PMID: 19651702) Rotthier A. … Timmerman V. (Brain 2009) 3 23
  3. Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease. (PMID: 18272684) Spinosa M.R. … Bucci C. (J. Neurosci. 2008) 3 23
  4. Characterization of the Rab7K157N mutant protein associated with Charcot-Marie-Tooth type 2B. (PMID: 18501189) De Luca A. … Bucci C. (Biochem. Biophys. Res. Commun. 2008) 3 23
  5. rab7 activity affects epidermal growth factor:epidermal growth factor receptor degradation by regulating endocytic trafficking from the late endosome. (PMID: 16282324) Ceresa B.P. … Bahr S.J. (J. Biol. Chem. 2006) 3 23

Products for RAB7A Gene

Sources for RAB7A Gene

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