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

RAB5A Gene

protein-coding   GIFtS: 69
GCID: GC03P019963

RAB5A, Member RAS Oncogene Family


(Previous symbol: RAB5)
Alzheimer's & Parkinson's 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
RAB5A, Member RAS Oncogene Family1 2
RAB51 2 3 5
RAS-Associated Protein RAB5A1 2
Ras-Related Protein Rab-5A2

External Ids:    HGNC: 97831   Entrez Gene: 58682   Ensembl: ENSG000001445667   OMIM: 1795125   UniProtKB: P203393   

Export aliases for RAB5A gene to outside databases

Previous GC identifers: GC03P019319 GC03M019342 GC03P019838


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

GeneCards Summary for RAB5A Gene: 
RAB5A (RAB5A, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB5A include borna disease, and venezuelan equine encephalitis, and among its related super-pathways are Clathrin-dependent protein traffic and Development HGF signaling pathway. GO annotations related to this gene include GDP binding and GTP binding. An important paralog of this gene is RAB20.

UniProtKB/Swiss-Prot: RAB5A_HUMAN, P20339
Function: Required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of
filopodia extension

Gene Wiki entry for RAB5A 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_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAB5A gene promoter:
         E2F-4   E2F-3a   SRF   E2F-5   E2F-1   E2F   SRF (504 AA)   E2F-2   MRF-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAB5A promoter sequence
   Search SABiosciences Chromatin IP Primers for RAB5A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAB5A


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

Entrez Gene cytogenetic band: 3p24-p22   Ensembl cytogenetic band:  3p24.3   HGNC cytogenetic band: 3p24-p22

RAB5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAB5A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P019963:  view genomic region     (about GC identifiers)

Start:
19,988,571 bp from pter      End:
20,026,667 bp from pter
Size:
38,097 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: RAB5A_HUMAN, P20339 (See protein sequence)
Recommended Name: Ras-related protein Rab-5A  
Size: 215 amino acids; 23659 Da
Subunit: Binds EEA1. Interacts with RIN1 and GAPVD1, which regulate its pathway, probably by acting as a GEF.
Interacts with RINL. Interacts with ALS2CL, RABEP1, SUN2, ZFYVE20 and RUFY1. Interacts with SGSM1 and SGSM3 (By
similarity). Interacts with PIK3CB (By similarity)
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Early endosome membrane;
Lipid-anchor (By similarity). Melanosome. Cytoplasmic vesicle (By similarity). Cell projection, ruffle (By
similarity). Note=Enriched in stage I melanosomes
6/12 PDB 3D structures from and Proteopedia for RAB5A (see all 12):
1N6H (3D)        1N6I (3D)        1N6K (3D)        1N6L (3D)        1N6N (3D)        1N6O (3D)    
Secondary accessions: Q6FI44

Explore the universe of human proteins at neXtProt for RAB5A: NX_P20339

Explore proteomics data for RAB5A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20339

  • RAB5A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAB5A Protein Expression
    REFSEQ proteins: NP_004153.2  
    ENSEMBL proteins: 
     ENSP00000273047   ENSP00000398450   ENSP00000403533   ENSP00000396632   ENSP00000411941  
    Reactome Protein details: P20339
    Human Recombinant Protein Products for RAB5A: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for RAB5A
    Cloud-Clone Corp. Proteins for RAB5A 

    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:0001726ruffle IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005768endosome ----

    RAB5A 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 P20339

    ProtoNet protein and cluster: P20339

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB5A_HUMAN, P20339
    Similarity: Belongs to the small GTPase superfamily. Rab family


    RAB5A 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: RAB5A_HUMAN, P20339
    Function: Required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of
    filopodia extension
    Enzyme regulation: Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP
    for free GTP

         Genatlas biochemistry entry for RAB5A:
    RAB5A,Ras oncogene superfamily member,located in early endosomes

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IDA15378032
    GO:0005515protein binding IPI10491193
    GO:0005525GTP binding IDA15378032
    GO:0019001guanyl nucleotide binding ----
    GO:0019003GDP binding IDA15378032
         
    RAB5A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RAB5A:
     Decreased influenza A virus in 

         1 MGI phenotypic allele for Rab5a (no phenotypes)

    RAB5A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAB5A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RAB5A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAB5A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAB5A 

    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate RAB5A (see all 23):
    hsa-miR-3673 hsa-miR-16-2* hsa-miR-200a hsa-miR-4299 hsa-miR-301a hsa-miR-548a-3p hsa-miR-141 hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidRAB5A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB5A


    (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 RAB5A About   (see all 21)                                                                                              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
    2Development HGF signaling pathway
    Development EGFR signaling via small GTPases0.44
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)0.31
    3Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF0.77
    Normal wtCFTR traffic / Sorting endosome formation0.77
    4Platelet activation, signaling and aggregation
    Hemostasis0.43
    5Development EGFR signaling pathway
    EGF Pathway0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for RAB5A
        Clathrin-dependent protein traffic
    Development EGFR signaling via small GTPases

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RAB5A
        SMAD Signaling Network
    Remodeling of Adherens Junctions
    EGF Pathway
    Epithelial Tight Junctions

    1 Cell Signaling Technology (CST) Pathway for RAB5A
        Cytoskeletal Signaling

    5/6 GeneGo (Thomson Reuters) Pathways for RAB5A (see all 6)
        Normal wtCFTR traffic / Sorting endosome formation
    wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
    Development EGFR signaling via small GTPases
    Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
    Delta508-CFTR traffic / Sorting endosome formation in CF

    5 BioSystems Pathways for RAB5A
        EGFR1 Signaling Pathway
    Signaling mediated by p38-alpha and p38-beta
    Internalization of ErbB1
    ErbB1 downstream signaling
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)


    2        Reactome Pathways for RAB5A
        Hemostasis
    Factors involved in megakaryocyte development and platelet production


    5/6         Kegg Pathways  (Kegg details for RAB5A) (see all 6):
        Endocytosis
    Phagosome
    Vasopressin-regulated water reabsorption
    Amyotrophic lateral sclerosis (ALS)
    Amoebiasis


    RAB5A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAB5A

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

    5/73 Interacting proteins for RAB5A (P203391, 2, 3 ENSP000002730474) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPL1Q9UKG12, 3, ENSP000002882664MINT-5208195 MINT-5207947 MINT-5208011 MINT-5208211 MINT-5208131 MINT-5208179 MINT-5207810 MINT-5208163 MINT-5208092 MINT-5204180 MINT-5207850 MINT-5207979 MINT-5208147 MINT-5208115 MINT-5207882 MINT-5204043 MINT-5207931 I2D: score=3 STRING: ENSP00000288266
    OCRLQ019682, 3, ENSP000003601544MINT-2882933 MINT-2981030 MINT-8184901 MINT-2882874 MINT-8184712 MINT-2981062 MINT-2981094 MINT-2883194 MINT-2883167 MINT-2883115 MINT-8184913 I2D: score=2 STRING: ENSP00000360154
    EEA1Q150751, 2, 3, ENSP000003179554EBI-399437,EBI-298113 MINT-2883035 I2D: score=5 STRING: ENSP00000317955
    ALS2Q96Q422, 3, ENSP000002642764MINT-8088056 MINT-8088071 I2D: score=1 STRING: ENSP00000264276
    TM9SF4Q925442, 3, ENSP000003811044MINT-7307320 MINT-7307331 I2D: score=1 STRING: ENSP00000381104
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS2501306
    GO:0006886intracellular protein transport ----
    GO:0006897endocytosis IDA15378032
    GO:0006913nucleocytoplasmic transport ----
    GO:0007165signal transduction ----

    RAB5A 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

    RAB5A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAB5A

    3 HMDB Compounds for RAB5A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    3 DrugBank Compounds for RAB5A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Guanosine-5'-Triphosphate-- 86-01-1target--17139284 17016423 10592235
    Guanosine-5'-Diphosphate-- 146-91-8target--10592235
    S-Oxymethionine-- 2006-10-2target--10592235

    10/19 Novoseek inferred chemical compound relationships for RAB5A gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 75 7 11602609 (4), 14618335 (1), 9697774 (1), 10652369 (1)
    gdp 66.3 26 15702993 (4), 8226909 (3), 18957427 (2), 9748259 (2) (see all 10)
    gtp 65.9 45 17473071 (3), 19526728 (3), 8226909 (3), 14600265 (2) (see all 20)
    ptdins(3)p 57.6 6 10652369 (3), 15998320 (1), 17233583 (1)
    phosphatidylinositol 50.3 11 11252727 (2), 11559593 (2), 10660521 (1), 18523285 (1) (see all 8)
    guanosine 42 1 11581220 (1)
    wortmannin 35.5 12 11559593 (5), 18980614 (1), 14521088 (1)
    mevalonate 32.7 1 9703948 (1)
    lovastatin 30.6 1 9703948 (1)
    mannose 6-phosphate 25.8 2 10821869 (1), 11404461 (1)

    Search CenterWatch for drugs/clinical trials and news about RAB5A

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAB5A gene: 
    NM_004162.4  

    Unigene Cluster for RAB5A:

    RAB5A, member RAS oncogene family
    Hs.475663  [show with all ESTs]
    Unigene Representative Sequence: NM_004162
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273047(uc003cbn.3 uc010hey.3 uc011awg.2) ENST00000443878
    ENST00000412966 ENST00000446547 ENST00000422242 ENST00000476544 ENST00000469122
    ENST00000473608

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAB5A
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    Additional mRNA sequence: 

    AF464088.1 AF498936.1 AK295992.1 AK309287.1 AK312618.1 BC001267.1 BC018288.1 CR536492.1 
    M28215.1 

    19 DOTS entries:

    DT.417369  DT.100827317  DT.120910567  DT.95276985  DT.95276987  DT.100827318  DT.100827322  DT.120910620 
    DT.75170387  DT.100827325  DT.70103305  DT.95276984  DT.99928106  DT.100827323  DT.120910629  DT.100827324 
    DT.120910585  DT.120910601  DT.95152330 

    24/264 AceView cDNA sequences (see all 264):

    AI754665 AI829352 T27860 AU133781 AI080727 AA878079 AI342486 BQ720552 
    BX359299 CB164447 AI754004 AA935792 BM786274 CR597533 CF139079 BE788393 
    CA776399 AI452767 BC018288 AA725289 AW269503 CA391029 CD678338 AI798565 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RAB5A (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9
    SP1:                                            -     -     -                                       
    SP2:                                            -           -                                       
    SP3:                                                  -     -                                       
    SP4:                                            -     -                                             
    SP5:                                                  -     -                                       


    ECgene alternative splicing isoforms for RAB5A

    (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

    RAB5A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCAGAGAT
    RAB5A Expression
    About this image


    See RAB5A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAB5A

    SOURCE GeneReport for Unigene cluster: Hs.475663
        SABiosciences Custom PCR Arrays for RAB5A
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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 RAB5A gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab5a1 , 5 RAB5A, member RAS oncogene family1, 5 91.32(n)1
    98.14(a)1
      17 (27.82 cM)5
    2714571  NM_025887.41  NP_080163.11 
     534792345 
    chicken
    (Gallus gallus)
    Aves RAB5A1 RAB5A, member RAS oncogene family 87.91(n)
    95.81(a)
      420649  NM_001006363.1  NP_001006363.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB5A6
    --
    --
    95(a)
    85(a)
    1 ↔ 1
    possible ortholog
    6(32947222-32955883)
    6(72860441-72875384)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC043866.12   -- 77.82(n)    BC043866.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab5aa1 RAB5A, member RAS oncogene family, a 75.19(n)
    93.02(a)
      337737  NM_201485.1  NP_958893.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab56
    Rab-protein 5
    71(a)
    1 → many
    2L(2359196-2365273)
    worm
    (Caenorhabditis elegans)
    Secernentea rab-51 Protein RAB-5 69.43(n)
    79.02(a)
      172755  NM_060080.2  NP_492481.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS21(YOR089C)4
    VPS211
    Rab family GTPase required for endocytic transport more4
    Vps21p1
    57.19(n)1
    56.85(a)1
      15(490828-490196)4
    8542561, 4  NP_014732.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RHA11 Ras-related protein RHA1 66.48(n)
    68.36(a)
      834549  NM_123881.3  NP_199326.1 
    rice
    (Oryza sativa)
    Liliopsida Os.141132 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.81(n)    AK100036.1 


    ENSEMBL Gene Tree for RAB5A (if available)
    TreeFam Gene Tree for RAB5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAB5A gene
    RAB202  RAB5C2  ENSG000002672612  RAB312  RAB5B2  RAB212  RAB242  RAB22A2  
    RAB172  
    18/91 SIMAP similar genes for RAB5A using alignment to 5 protein entries:     RAB5A_HUMAN (see all proteins) (see all similar genes):
    RAB5C    RAB5B    rab1b    DKFZp686J06205    RAB11A    RAB17
    RAB22A    RAB15    RAB2B    RAB31    RAB39B    RAB6A
    RAB30    RAB6B    DKFZp313C1541    RAB2A    RAB1C    RAB41

    RAB5A for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for RAB5A
    PGOHUM00000239301 PGOHUM00000243217 PGOHUM00000250210


    (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

    10/850 SNPs in RAB5A are shown (see all 850)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1459210441,2
    --19986603(+) CCAGCA/TGTTAT 1 -- us2k10--------
    rs1865850061,2
    --19986840(+) TAGAGA/TGGCTA 1 -- us2k10--------
    rs756580541,2
    C,F--19986976(+) GACAAT/CGGTTT 1 -- us2k11Minor allele frequency- C:0.02NA 120
    rs1466333851,2
    --19986986(+) TGTGAA/GGAGAA 1 -- us2k10--------
    rs1903088221,2
    --19987244(+) TATGAC/TACATT 1 -- us2k10--------
    rs1819943541,2
    --19987270(+) CTAGGC/TAGTTG 1 -- us2k10--------
    rs1413861141,2
    --19987342(+) CGCCCA/GTAAGA 1 -- us2k10--------
    rs1502460541,2
    --19987376(+) AGACAA/GTATTC 1 -- us2k10--------
    rs1155315501,2
    C,F--19987391(+) CCTTAC/TAACAG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs3761447871,2
    C--19987399(+) CAGAGA/CATACA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RAB5A (19988571 - 20026667 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for RAB5A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2725000CNV Deletion23290073
    esv2724999CNV Deletion23290073
    esv1338718CNV Deletion17803354
    esv996397CNV Deletion20482838
    esv2725001CNV Deletion23290073
    nsv237606CNV Loss16902084
    nsv433358CNV Gain18776910
    esv35078CNV Gain17911159
    esv23068CNV Gain+Loss19812545

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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: 179512    OMIM disorders: --

    20/26 diseases for RAB5A (see all 26):    About MalaCards
    borna disease    venezuelan equine encephalitis    choroideremia    motor neuron disease
    west nile virus    multiple system atrophy    tuberous sclerosis    down syndrome
    encephalitis    lateral sclerosis    amyotrophic lateral sclerosis    tuberculosis
    choroiditis    alzheimer's disease    huntington's disease    cystic fibrosis
    hepatitis c    ovarian cancer    hepatocellular carcinoma    neuronitis


    RAB5A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for RAB5A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    motor neuron disease 42.4 2 17239822 (1), 12837691 (1)
    down syndrome 6.21 2 17611268 (1), 12890772 (1)
    inflammation 4.48 1 11306580 (1)
    alzheimers disease 2.07 1 19526546 (1)
    tuberculosis 0 5 10768959 (4)

    Genetic Association Database (GAD): RAB5A
    Human Genome Epidemiology (HuGE) Navigator: RAB5A (3 documents)

    Export disorders for RAB5A 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 RAB5A gene, integrated from 9 sources (see all 281):
    (articles sorted by number of sources associating them with RAB5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Direct interaction of EEA1 with Rab5b. (PubMed id 10491193)1, 2, 9 Callaghan J.M.... Stenmark H. (1999)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    4. Structural basis of family-wide Rab GTPase recognition by rabenosyn- 5. (PubMed id 16034420)1, 2 Eathiraj S.... Lambright D.G. (2005)
    5. ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics. (PubMed id 15388334)1, 2 Hadano S.... Ikeda J.-E. (2004)
    6. Structural basis of Rab5-Rabaptin5 interaction in endocytosis. (PubMed id 15378032)1, 2 Zhu G.... Zhang X.C. (2004)
    7. Regulation of dendritic branching and filopodia formation in hippocampal neurons by specific acylated protein motifs. (PubMed id 14978216)1, 2 Gauthier-Campbell C....El-Husseini A.e.l.-.D. (2004)
    8. Rabip4' is an effector of rab5 and rab4 and regulates transport through early endosomes. (PubMed id 14617813)1, 2 Fouraux M.A.... Pruijn G.J.M. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. High resolution crystal structures of human Rab5a and five mutants with substitutions in the catalytically important phosphate-binding loop. (PubMed id 12433916)1, 2 Zhu G.... Zhang X.C. (2003)

    (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: 5868 HGNC: 9783 AceView: RAB5A Ensembl:ENSG00000144566 euGenes: HUgn5868
    ECgene: RAB5A Kegg: 5868 H-InvDB: RAB5A

    (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 RAB5A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB5A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAB5A gene:
    Search GeneIP for patents involving RAB5A

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



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