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RAB5A Gene

protein-coding   GIFtS: 70
GCID: GC03P019963

RAB5A, Member RAS Oncogene Family


(Previous symbol: RAB5)
  See RAB5A-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of
transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active
GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible
for vesicle formation, movement, tethering and fusion. RAB5A is 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   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 Chromatin IP Primers for RAB5A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RAB5A_HUMAN, P20339 (See protein sequence)
Recommended Name: Ras-related protein Rab-5A  
Size: 215 amino acids; 23659 Da
Subunit: Interacts with SGSM1 and SGSM3 (By similarity). Interacts with PIK3CB (By similarity). Interacts with
GDI1; this promotes dissociation from membranes. Interacts with EEA1. Interacts with RIN1 and GAPVD1, which
regulate its pathway, probably by acting as a GEF. Interacts with RINL. Interacts with ALS2CL, SUN2, ZFYVE20 and
RUFY1. Interacts with RABEP1; one RABEP1 homodimer binds two RAB5A chains, but at opposite sides of the dimer
Selected 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: 

  • Ubiquitination2 at Lys116, Lys134
  • Modification sites at PhosphoSitePlus

  • See RAB5A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004153.2  
    ENSEMBL proteins: 
     ENSP00000273047   ENSP00000398450   ENSP00000403533   ENSP00000396632   ENSP00000411941  
    Reactome Protein details: P20339

    RAB5A Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RAB5A

     
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    antibodies-online proteins for RAB5A (23 products) 

     
    antibodies-online peptides for RAB5A

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with RAB5A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAB5A_HUMAN, P20339
    Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of
    transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active
    GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible
    for vesicle formation, movement, tethering and fusion. RAB5A is 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:    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
         
    Find genes that share ontologies with RAB5A           About GenesLikeMe


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

         1 MGI phenotypic allele for Rab5a (no phenotypes)

    Find genes that share phenotypes with RAB5A           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RAB5A

    miRNA
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    miRTarBase miRNAs that target RAB5A:
    hsa-mir-101-3p (MIRT006150), hsa-mir-130b-3p (MIRT020340), hsa-mir-33a-5p (MIRT028241), hsa-mir-18a-5p (MIRT031351), hsa-mir-130a-3p (MIRT007138)

    Block miRNA regulation of human, mouse, rat RAB5A using miScript Target Protectors
    Selected qRT-PCR 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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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RAB5A_HUMAN, P20339: 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). Membrane. Cytoplasm, cytosol. Note=Enriched in stage I melanosomes. Alternates between
    membrane-bound and cytosolic forms
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    cytosol3
    mitochondrion3
    cytoskeleton2
    lysosome2
    golgi apparatus1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA--
    GO:0005768endosome ----

    Find genes that share ontologies with RAB5A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RAB5A About   (see all 23)  
    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
    2Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Amyotrophic lateral sclerosis (ALS)0.63
    3Delta508 CFTR traffic Sorting endosome formation in CF
    Normal wtCFTR traffic Sorting endosome formation0.00
    Delta508 CFTR traffic Sorting endosome formation in CF
    4Development HGF signaling pathway
    Development EGFR signaling via small GTPases0.44
    5Hemostasis
    Hemostasis0.43


    Find genes that share SuperPaths with RAB5A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

    Selected BioSystems Pathways for RAB5A (see all 6)
        EGFR1 Signaling Pathway
    Amyotrophic lateral sclerosis (ALS)
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    Signaling mediated by p38-alpha and p38-beta
    Internalization of ErbB1


    1 Reactome Pathway for RAB5A
        Factors involved in megakaryocyte development and platelet production


    Selected Kegg Pathways  (Kegg details for RAB5A) (see all 7):
        Ras signaling pathway
    Endocytosis
    Phagosome
    Vasopressin-regulated water reabsorption
    Amyotrophic lateral sclerosis (ALS)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB5A
    Interactions:

        GeneGlobe Interaction Network for RAB5A

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

    Selected Interacting proteins for RAB5A (P203391, 2, 3 ENSP000002730474) via UniProtKB, MINT, STRING, and/or I2D (see all 166)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPL1Q9UKG11, 2, 3, ENSP000002882664EBI-399437,EBI-741243 MINT-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
    OCRLQ019681, 2, 3, ENSP000003601544EBI-399437,EBI-6148898 MINT-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
    ALS2Q96Q421, 2, 3, ENSP000002642764EBI-399437,EBI-1044902 MINT-8088056 MINT-8088071 I2D: score=1 STRING: ENSP00000264276
    EEA1Q150751, 2, 3, ENSP000003179554EBI-399437,EBI-298113 MINT-2883035 I2D: score=5 STRING: ENSP00000317955
    TM9SF4Q925442, 3, ENSP000003811044MINT-7307320 MINT-7307331 I2D: score=1 STRING: ENSP00000381104
    About this table

    Gene Ontology (GO): Selected biological process terms (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 ----

    Find genes that share ontologies with RAB5A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    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

    Selected 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)



    Find genes that share compounds with RAB5A           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    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
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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 

    Selected AceView cDNA sequences (see all 264):

    AI342486 T27860 CR625175 AI829352 AI089926 CA391029 AW374553 F06045 
    AA878079 BE467569 CB164447 AI798565 BQ720552 AW130909 AI754665 AF498936 
    BU838418 AI080727 CF139079 BX356544 AI633650 AA725289 BX359299 AA315057 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    RAB5A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB5A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.475663
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RAB5A gene from Selected species (see all 20)    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_001006363.2  NP_001006363.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB5A6
    RAB5A, member RAS oncogene family
    95(a)
    1 ↔ 1
    6(32947222-32955883)
    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
    73(a)
    1 → many
    2L(2359196-2365273)
    worm
    (Caenorhabditis elegans)
    Secernentea rab-51 rab-5 69.43(n)
    79.02(a)
      172755  NM_060080.3  NP_492481.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS21(YOR089C)4 Rab family GTPase required for endocytic transport more   --   15(490828-490196) 854256  NP_014732.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RHA11 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)
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    Paralogs for RAB5A gene
    RAB202  RAB5C2  ENSG000002672612  RAB312  RAB5B2  RAB212  RAB242  RAB22A2  
    RAB172  
    Selected 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    RAB39B    RAB6A    RAB30
    RAB6B    DKFZp313C1541    RAB2A    RAB11B    RAB1C    RAB41

    Find genes that share paralogs with RAB5A           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RAB5A (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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 179512    OMIM disorders: --

    3 diseases for RAB5A:    
    About MalaCards
    borna disease    venezuelan equine encephalitis    choroideremia


    Find genes that share disorders with RAB5A           About GenesLikeMe

    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)
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    PubMed articles for RAB5A gene, integrated from 10 sources (see all 289):
    (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. (Eur. J. Biochem. 1999)
    2. Rab1a and Rab5a preferentially bind to binary lipid compositions with higher stored curvature elastic energy. (PubMed id 23815289)1, 2 Kirsten M.L.... Ces O. (Mol. Membr. Biol. 2013)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    5. Structural basis of family-wide Rab GTPase recognition by rabenosyn- 5. (PubMed id 16034420)1, 2 Eathiraj S.... Lambright D.G. (Nature 2005)
    6. 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. (FEBS Lett. 2004)
    7. Structural basis of Rab5-Rabaptin5 interaction in endocytosis. (PubMed id 15378032)1, 2 Zhu G.... Zhang X.C. (Nat. Struct. Mol. Biol. 2004)
    8. 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. (Mol. Biol. Cell 2004)
    9. 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. (Mol. Biol. Cell 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5868 HGNC: 9783 AceView: RAB5A Ensembl:ENSG00000144566 euGenes: HUgn5868
    ECgene: RAB5A Kegg: 5868 H-InvDB: RAB5A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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