Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RAB7A Gene

Aliases for RAB7A Gene

  • RAB7A, Member RAS Oncogene Family 2 3
  • RAB7 3 4 6
  • RAB7, Member RAS Oncogene Family 2 3
  • Ras-Associated Protein RAB7 3
  • Ras-Related Protein Rab-7a 3
  • PRO2706 3
  • CMT2B 6
  • PSN 6

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 venezuelan equine encephalitis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Endocytosis. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB9A.

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. Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RAB7A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with RILP, PSMA7, RNF115 and FYCO1. Interacts with the PIK3C3/VPS34-PIK3R4 complex. The GTP-bound form interacts with OSBPL1A. Interacts with CLN3.
    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 Lys32, Lys38, Lys126, Lys146, and Lys191
  • 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 for RAB7A Gene

Gene Families for RAB7A Gene

HGNC:
  • RAB :RAB, member RAS oncogene

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 :
  • P51149
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. Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation.

Gene Ontology (GO) - Molecular Function for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 18272684
GO:0005515 protein binding IPI 14617358
GO:0005524 ATP binding --
GO:0005525 GTP binding IDA 18272684
GO:0019003 GDP binding IDA 18272684
genes like me logo Genes that share ontologies with RAB7A: view
genes like me logo Genes that share phenotypes with RAB7A: view

Animal Models for RAB7A Gene

MGI Knock Outs for RAB7A:

Animal Model Products

CRISPR Products

miRNA for RAB7A Gene

miRTarBase miRNAs that target RAB7A

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB7A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RAB7A Gene

Localization for RAB7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB7A Gene

Late endosome. Lysosome. Cytoplasmic vesicle, phagosome. Melanosome. 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}.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus --
GO:0005737 cytoplasm --
GO:0005764 colocalizes_with lysosome IDA 18272684
GO:0005765 lysosomal membrane TAS --
genes like me logo Genes that share ontologies with RAB7A: view

Pathways 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:0006184 obsolete GTP catabolic process --
GO:0006622 protein targeting to lysosome IMP 22115783
GO:0006886 intracellular protein transport --
GO:0006897 endocytosis TAS 2115402
GO:0006913 nucleocytoplasmic transport --
genes like me logo Genes that share ontologies with RAB7A: view

Compounds for RAB7A Gene

(1) Drugbank Compounds for RAB7A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Guanosine-5'-Diphosphate
146-91-8 target

(11) Novoseek inferred chemical compound relationships for RAB7A Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 3-phosphate 68.5 1
mannose 6-phosphate 67.4 7
geranylgeranyl pyrophosphate 55.1 5
gtp 53.9 6
gdp 44.9 2
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAB7A

Primer 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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (4.2).

Integrated Proteomics: protein expression 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 expressions with RAB7A: view

In Situ Assay Products

Orthologs for RAB7A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB7A 35
  • 99.84 (n)
  • 100 (a)
RAB7A 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia RAB7A 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB7A 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab7a 35
  • 91.95 (n)
  • 99.52 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3471 35
zebrafish
(Danio rerio)
Actinopterygii rab7 35
  • 81.48 (n)
  • 97.58 (a)
rab7 36
  • 98 (a)
OneToOne
zgc64058 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)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT7 35
  • 61.41 (n)
  • 64.04 (a)
YPT7 36
  • 63 (a)
OneToMany
YPT7 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01265g 35
  • 60.53 (n)
  • 62.19 (a)
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)
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 intestinalis)
Ascidiacea Cin.5944 35
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 MAF
rs4548 Benign 128,806,410(+) TCTCT(C/T)GGTGT reference, synonymous-codon
rs10222 -- 128,813,993(+) TAATC(A/T)GATCT utr-variant-3-prime
rs723348 -- 128,799,264(+) TGTCT(C/G)GTTCC intron-variant
rs1050006 -- 128,814,728(+) ACATT(C/T)TAGGG utr-variant-3-prime
rs1050012 -- 128,814,757(+) GTAAA(A/G)AGATG utr-variant-3-prime

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

Relevant External Links for RAB7A Gene

HapMap Linkage Disequilibrium report
RAB7A
Human Gene Mutation Database (HGMD)
RAB7A
Locus Specific Mutation Databases (LSDB)
RAB7A

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

Disorders for RAB7A Gene

(1) OMIM Diseases for RAB7A Gene (602298)

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.

(1) Novoseek inferred disease relationships for RAB7A Gene

Disease -log(P) Hits PubMed IDs
charcot-marie-tooth disease 75.9 4

Relevant External Links for RAB7A

GeneTests
RAB7A
GeneReviews
RAB7A
Genetic Association Database (GAD)
RAB7A
Human Genome Epidemiology (HuGE) Navigator
RAB7A
genes like me logo Genes that share disorders with RAB7A: view

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
  2. Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. (PMID: 11179213) Cantalupo G. … Bucci C. (EMBO J. 2001) 3 4 23
  3. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. (PMID: 12545426) Verhoeven K. … Timmerman V. (Am. J. Hum. Genet. 2003) 3 4 23
  4. Human VPS34 and p150 are Rab7 interacting partners. (PMID: 14617358) Stein M.P. … Wandinger-Ness A. (Traffic 2003) 3 4 23
  5. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. (PMID: 15455439) Houlden H. … Ginsberg L. (Ann. Neurol. 2004) 3 4 23

Products for RAB7A Gene

  • Addgene plasmids for RAB7A

Sources for RAB7A Gene

Back to Top

Content