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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAB7A Gene

protein-coding   GIFtS: 68
GCID: GC03P128444

RAB7A, Member RAS Oncogene Family

(Previous names: RAB7, member RAS oncogene family)
(Previous symbol: RAB7)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RAB7A, Member RAS Oncogene Family1 2     Ras-Associated Protein RAB72
RAB71 2 3 5     Ras-Related Protein Rab-7a2
RAB7, Member RAS Oncogene Family1 2     CMT2B5
PRO27062     PSN5

External Ids:    HGNC: 97881   Entrez Gene: 78792   Ensembl: ENSG000000757857   OMIM: 6022985   UniProtKB: P511493   

Export aliases for RAB7A gene to outside databases

Previous GC identifers: GC03P129928 GC03P125832


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 charcot-marie-tooth neuropathy type 2b, and among its related super-pathways are Clathrin-dependent protein traffic and Delta508-CFTR traffic / Sorting endosome formation in CF. GO annotations related to this gene include GDP binding and GTP binding. An important paralog of this gene is RABL2B.

UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149
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 Wiki entry for RAB7A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB7A gene promoter:
         Max   C/EBPbeta   SREBP-1a   Nkx6-1   SREBP-1c   Arnt   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): RAB7A promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB7A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB7A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21

RAB7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB7A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P128444:  view genomic region     (about GC identifiers)

Start:
128,444,965 bp from pter      End:
128,533,641 bp from pter
Size:
88,677 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149 (See protein sequence)
Recommended Name: Ras-related protein Rab-7a  
Size: 207 amino acids; 23490 Da
Subunit: The GTP-bound form interacts with RAC1 (By similarity). Interacts with NTRK1/TRKA (By similarity).
Interacts with RILP, PSMA7, RNF115 and FYCO1. Interacts with the PIK3C3/VPS34-PIK3R4 complex. The GTP-bound form
interacts with OSBPL1A. Interacts with CLN3
Subcellular location: Late endosome. Lysosome (By similarity). Cytoplasmic vesicle, phagosome (By similarity).
Melanosome (By similarity). Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side.
Note=Co-localizes 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)
Sequence caution: Sequence=BAA91390.1; Type=Erroneous translation; Note=Wrong choice of frame;
Sequence=BAF83410.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=EAW79303.1; Type=Erroneous
gene model prediction;
3 PDB 3D structures from and Proteopedia for RAB7A:
1T91 (3D)        1YHN (3D)        3LAW (3D)    
Secondary accessions: A8K3V6 Q9NWJ0 Q9UPB0

Explore the universe of human proteins at neXtProt for RAB7A: NX_P51149

Explore proteomics data for RAB7A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51149

  • RAB7A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAB7A Protein Expression
    REFSEQ proteins: NP_004628.4  
    ENSEMBL proteins: 
     ENSP00000265062   ENSP00000417668   ENSP00000417978   ENSP00000418955   ENSP00000417189  
     ENSP00000417155   ENSP00000418283  
    Reactome Protein details: P51149
    Human Recombinant Protein Products for RAB7A: 
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    ProSpec Recombinant Protein for RAB7A
    Cloud-Clone Corp. Proteins for RAB7A 

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005764colocalizes with lysosome IDA18272684
    GO:0005765lysosomal membrane TAS--

    RAB7A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RAB: RAB, member RAS oncogene

    4 InterPro protein domains:
     IPR005225 Small_GTP-bd_dom
     IPR001806 Small_GTPase
     IPR003579 Small_GTPase_Rab_type
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P51149

    ProtoNet protein and cluster: P51149

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149
    Similarity: Belongs to the small GTPase superfamily. Rab family


    RAB7A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAB7A_HUMAN, P51149
    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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA18272684
    GO:0005515protein binding IPI14617358
    GO:0005524ATP binding ----
    GO:0005525GTP binding IDA18272684
    GO:0019003GDP binding IDA18272684
         
    RAB7A for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for RAB7A:
     Decreased Hepatitis C virus re  Decreased Salmonella enterica   Decreased Salmonella-containin  Increased Salmonella enterica  

         3 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rab7):
     embryogenesis  no phenotypic analysis  normal 

    RAB7A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rab7tm1.2Ywd for RAB7A

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAB7A 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RAB7A About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Clathrin-dependent protein traffic
    Clathrin-dependent protein traffic0.66
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)0.37
    Transport Clathrin-coated vesicle cycle0.66
    2Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF0.77
    Normal wtCFTR traffic / Sorting endosome formation0.77
    3Immune System
    Immune System0.56
    Adaptive Immune System0.56
    4Immune response IL-12-induced IFN-gamma production
    IL12-mediated signaling events0.33
    5MHC class II antigen presentation
    MHC class II antigen presentation0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for RAB7A
        Clathrin-dependent protein traffic


    1 Cell Signaling Technology (CST) Pathway for RAB7A
        Cytoskeletal Signaling

    5/6 GeneGo (Thomson Reuters) Pathways for RAB7A (see all 6)
        Normal wtCFTR traffic / Sorting endosome formation
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Delta508-CFTR traffic / Sorting endosome formation in CF
    Transport Clathrin-coated vesicle cycle
    wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)

    1 BioSystems Pathway for RAB7A
        IL12-mediated signaling events

    3        Reactome Pathways for RAB7A
        Adaptive Immune System
    Immune System
    MHC class II antigen presentation


    5         Kegg Pathways  (Kegg details for RAB7A):
        Endocytosis
    Phagosome
    Salmonella infection
    Amoebiasis
    Tuberculosis


    RAB7A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAB7A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/140 Interacting proteins for RAB7A (P511492, 3 ENSP000002650624) via UniProtKB, MINT, STRING, and/or I2D (see all 140)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNM2P505702, 3, ENSP000003527214MINT-8058579 MINT-8058639 I2D: score=1 STRING: ENSP00000352721
    SH3KBP1Q96B972, 3, ENSP000003809214MINT-8058620 MINT-8058579 I2D: score=1 STRING: ENSP00000380921
    RAB4AP203382, 3, ENSP000003556514MINT-3369790 I2D: score=1 STRING: ENSP00000355651
    ATG9AQ7Z3C62, 3, ENSP000003551734MINT-8142098 I2D: score=1 STRING: ENSP00000355173
    CHMP243863, ENSP000003503864I2D: score=3 STRING: ENSP00000350386
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS8954989
    GO:0006622protein targeting to lysosome IMP--
    GO:0006886intracellular protein transport ----
    GO:0006897endocytosis TAS2115402
    GO:0006913nucleocytoplasmic transport ----

    RAB7A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RAB7A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RAB7A

    1 DrugBank Compound for RAB7A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Diphosphate-- 146-91-8target--10592235

    10/11 Novoseek inferred chemical compound relationships for RAB7A gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 68.5 2 14617358 (1)
    mannose 6-phosphate 67.4 7 10821869 (2), 18485117 (1), 11152512 (1), 11404461 (1) (see all 6)
    geranylgeranyl pyrophosphate 55.1 7 11141079 (5)
    gtp 53.9 14 9563513 (2), 19386765 (2), 14701929 (1), 18272684 (1)
    gdp 44.9 3 9563513 (2)
    asparagine 24.7 1 15455439 (1)
    phosphoinositide 17.2 1 12803922 (1)
    lipid 12.3 2 12803922 (1), 11889035 (1)
    phosphatidylinositol 5.42 4 14617358 (2), 17651088 (1)
    cholesterol 0 9 11889035 (4), 11032830 (2), 12803922 (1)

    Search CenterWatch for drugs/clinical trials and news about RAB7A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for RAB7A gene: 
    NM_004637.5  

    Unigene Cluster for RAB7A:

    RAB7A, member RAS oncogene family
    Hs.744853  [show with all ESTs]
    Unigene Representative Sequence: NM_004637
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265062(uc003eks.1 uc010hsv.1) ENST00000482525 ENST00000491681
    ENST00000464496 ENST00000490093 ENST00000493186 ENST00000483906 ENST00000485280

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF498942.1 AK024417.1 AK026136.1 AK094449.1 AK225177.1 AK225691.1 AK290721.1 AK298344.1 
    AK308934.1 AL162009.1 BC008721.2 BC013728.1 BX537775.1 U44104.1 

    24/40 DOTS entries (see all 40):

    DT.95217730  DT.100033891  DT.450445  DT.100047749  DT.100660146  DT.100812865  DT.100660135  DT.95283342 
    DT.120865480  DT.100720266  DT.120865448  DT.120865455  DT.97867830  DT.100059636  DT.120865494  DT.65286440 
    DT.92467567  DT.95283341  DT.100059638  DT.100660134  DT.100660144  DT.100720250  DT.120865433  DT.120865497 

    24/1200 AceView cDNA sequences (see all 1200):

    BQ069821 BE388938 BE208839 BU857138 AI471623 BQ716053 N33151 AA991878 
    BQ778106 BQ431520 BM997032 BE407831 BQ642364 AA488129 Z38743 AA370069 
    BF941087 BU190037 BG830951 BU173996 AA548548 AI379413 BQ010127 BM760424 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAB7A expression in normal human tissues (normalized intensities)      RAB7A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAATATATG
    RAB7A Expression
    About this image


    RAB7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See RAB7A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB7A

    SOURCE GeneReport for Unigene cluster: Hs.744853

    UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149
    Tissue specificity: Widely expressed; high expression found in skeletal muscle

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RAB7A gene from 10/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab71 , 5 RAB7, member RAS oncogene family1, 5 91.3(n)1
    100(a)1
      6 (39.13 cM)5
    193491  NM_009005.21  NP_033031.21 
     879991065 
    chicken
    (Gallus gallus)
    Aves RAB7A1 RAB7A, member RAS oncogene family 86.96(n)
    99.03(a)
      416016  XM_414359.2  XP_414359.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB7A6
    Uncharacterized protein
    100(a)
    1 ↔ 1
    2(164727893-164733829)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060401.12   -- 89.04(n)    BC060401.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc640582 similar to RAB family member (23.4 kD) (rab-7) 81.86(n)   393902  BC054602.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab71 Rab-protein 7 68.28(n)
    76.33(a)
      42841  NM_079748.3  NP_524472.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rab-71 Protein RAB-7 63.24(n)
    72.06(a)
      174834  NM_064148.4  NP_496549.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPT7(YML001W)4
    YPT71
    Rab family GTPase; GTP-binding protein of the rab family; required for homotypic fusion event in vacuole inheritance, for endosome-endosome fusion, similar to mammalian Rab7 less4
    Ypt7p1
    61.41(n)1
    64.53(a)1
      13(267174-267800)4
    8550121, 4  NP_013713.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAB7B1 Ras-related protein Rab-7A 65.68(n)
    69.46(a)
      821415  NM_112768.2  NP_188512.1 
    rice
    (Oryza sativa)
    Liliopsida Os.117102 Oryza sativa (japonica cultivar-group) cDNA cloneJ023052D24, full insert sequence less 77.07(n)    AK070320.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB7A gene
    RABL2B2  RAB9A2  RAB9B2  RAB322  RAB7L12  RAB382  RABL2A2  
    18/100 SIMAP similar genes for RAB7A using alignment to 7 protein entries:     RAB7A_HUMAN (see all proteins) (see all similar genes):
    RAB6A'    RAB23    RAB11A    RAB3A    RAB31    RAB38
    RAB11B    RAB7L1    RAB5C    RAB41    RAB43    RAB28
    RAB5B    RAB2B    RAB7B    RAB44    RAB25    RAB6B

    RAB7A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RAB7A
    PGOHUM00000236208


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1839 SNPs in RAB7A are shown (see all 1839)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219090781,2,4
    CCharcot-Marie-Tooth disease 2B (CMT2B)4 pathogenic1128508666(+) TTGACC/TTCGAA 2 L F mis10--------
    rs1219090811,2,4
    CCharcot-Marie-Tooth disease 2B (CMT2B)4 pathogenic1128509704(+) GCCAAC/GGAGGC 2 N K mis10--------
    rs1219090801,2,4
    CCharcot-Marie-Tooth disease 2B (CMT2B)4 pathogenic1128509715(+) CATCAA/CCGTGG 2 N T mis10--------
    rs1219090791,2,4
    CCharcot-Marie-Tooth disease 2B (CMT2B)4 pathogenic1128509717(+) TCAACA/GTGGAG 2 M V mis10--------
    rs1386030411,2
    C--125833584(+) GCTTG-/CTGGTT 1 -- int10--------
    rs105760421,2
    C--125858298(+) ATACA-/GTGTGAC 1 -- int10--------
    rs1426365331,2
    C--125858899(+) TCAAG-/AAGCTT 1 -- int10--------
    rs114211521,2
    C--125858910(+) TCCTCT/-TTTTT 1 -- int1 trp31Minor allele frequency- -:0.50NA 2
    rs673781231,2
    C,F--125870037(+) CCCCCCCCC/-  
            
    GCCCC
    1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs131007881,2
    C--125871946(+) tttttC/Tcccga 1 -- int1 trp31Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for RAB7A (128444965 - 128533641 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RAB7A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676268CNV Deletion23128226
    nsv437853CNV Loss16327808
    nsv877465CNV Gain21882294


    Human Gene Mutation Database (HGMD): RAB7A

    Locus Specific Mutation Databases (LSDB): RAB7A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602298   
    OMIM disorders: 600882  
    UniProtKB/Swiss-Prot: RAB7A_HUMAN, P51149
  • 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 regeneration 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/26 diseases for RAB7A (see all 26):    About MalaCards
    charcot-marie-tooth disease type 2b    charcot-marie-tooth neuropathy type 2b    venezuelan equine encephalitis    charcot-marie-tooth neuropathy type 2
    choroideremia    charcot-marie-tooth disease type 2    neuropathy    hereditary neuropathies
    charcot-marie-tooth disease    tooth disease    wilson disease    autonomic neuropathy
    charcot-marie-tooth neuropathy    axonal neuropathy    neuronal ceroid lipofuscinosis    encephalitis
    choroiditis    insulin resistance    alzheimer's disease    tuberculosis


    RAB7A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for RAB7A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 75.9 4 17060578 (1), 15455439 (1), 12545426 (1), 19651702 (1)

    GeneTests: RAB7A
    GeneReviews: RAB7A
    Genetic Association Database (GAD): RAB7A
    Human Genome Epidemiology (HuGE) Navigator: RAB7A (1 document)

    Export disorders for RAB7A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAB7A gene, integrated from 9 sources (see all 171):
    (articles sorted by number of sources associating them with RAB7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. (PubMed id 9126495)1, 2, 3, 9 Davies J.P.... Ioannou Y.A. (1997)
    2. Human VPS34 and p150 are Rab7 interacting partners. (PubMed id 14617358)1, 2, 9 Stein M.P....Wandinger-Ness A. (2003)
    3. Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. (PubMed id 11179213)1, 2, 9 Cantalupo G.... Bucci C. (2001)
    4. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. (PubMed id 15455439)1, 2, 9 Houlden H....Ginsberg L. (2004)
    5. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. (PubMed id 12545426)1, 2, 9 Verhoeven K.... Timmerman V. (2003)
    6. Genes for hereditary sensory and autonomic neuropathi es: a genotype-phenotype correlation. (PubMed id 19651702)1, 4, 9 Rotthier A....Timmerman V. (2009)
    7. Rab7: roles in membrane trafficking and disease. (PubMed id 19392663)1, 2 Zhang M....Wang T. (2009)
    8. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    9. Novel RING E3 ubiquitin ligases in breast cancer. (PubMed id 16925951)1, 2 Burger A....Seth A.K. (2006)
    10. The oxysterol-binding protein homologue ORP1L interacts with Rab7 and alters functional properties of late endocytic compartments. (PubMed id 16176980)1, 2 Johansson M....Olkkonen V.M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7879 HGNC: 9788 AceView: RAB7 Ensembl:ENSG00000075785 euGenes: HUgn7879
    ECgene: RAB7A Kegg: 7879 H-InvDB: RAB7A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAB7A Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAB7A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAB7A gene:
    Search GeneIP for patents involving RAB7A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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