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RAB5C Gene

protein-coding   GIFtS: 65

GC17M037530
RAB5C, member RAS oncogene family
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: RABL)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
L1880 3
MGC117217 2
MGC138857 2
RAB5CL 1, 2
RAB5L 3
RABL 2, 3, 5
Descriptions
RAB, member of RAS oncogene family-like 2
RAB5C, member RAS oncogene family 2
RAB5C, member of RAS oncogene family 2
External Ids
HGNC: 97851
Entrez Gene: 58782
UniProtKB: P511483
Ensembl: ENSG000001087747
Search outside databases for aliases for RAB5C gene

Previous GC identifers: GC17M039830 GC17M042432 GC17M040185 GC17M040650

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

UniProtKB/Swiss-Prot: RAB5C_HUMAN, P51148
Function: Protein transport. Probably involved in vesicular traffic (By similarity)

Gene Wiki entry for RAB5C

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the RAB5C gene  

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2

RAB5C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M037530:     (about GC identifiers)

Start:
37,530,523 bp from pter
End:
37,560,548 bp from pter
Size:
30,026 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010755.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: RAB5C_HUMAN, P51148 (See protein sequence)
Recommended Name: Ras-related protein Rab-5C  
Size: 216 amino acids; 23483 Da
Subunit: Binds EEA1
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Early endosome
membrane; Lipid-anchor (By similarity). Melanosome. Note=Identified by mass spectrometry in
melanosome fractions from stage I to stage IV
Secondary accessions: Q6FH55 Q9P0Y5

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_004574.2  NP_958842.1  


    ENSEMBL proteins: 
    ENSP00000345689 ENSP00000377440 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (RAB5C)
    Human Recombinant Proteins from Abnova (RAB5C)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005737 cytoplasm IDA18029348
    GO:0005768 endosome IEA--
    GO:0005886 plasma membrane IEA--
    GO:0030139 endocytic vesicle IEA--
    About this table

    Antibodies for RAB5C: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for RAB5C
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (RAB5C), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for RAB5C

    Assays for RAB5C: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5 InterPro domains/families:
     IPR001806 Ras_GTPase
     IPR005225 Small_GTP_bd
     IPR003579 GTPase_Rab
     IPR013753 Ras
     IPR015599 Rab5-like


       GeneDecks  RAB5C for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P51148

    ProtoNet protein and cluster: P51148

    1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB5C_HUMAN, P51148
    Similarity: Belongs to the small GTPase superfamily. Rab family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RAB5C)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (RAB5C)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_201434

                  Applied Biosystems Silencer® siRNAs for RAB5C

                  Sigma-Aldrich siRNA for RAB5C  
                         Sigma-Aldrich shRNA for RAB5C  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_004583
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_004583
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_004583 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004583

    UniProtKB/Swiss-Prot: RAB5C_HUMAN, P51148
    Function: Protein transport. Probably involved in vesicular traffic (By similarity)

    Genatlas biochemistry entry for RAB5C:
    RAB5C,Ras oncogene superfamily member,involved in endocytosis

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0003924 GTPase activity TAS8646882
    GO:0005515 protein binding IPI17353931
    GO:0005525 GTP binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    3 Sigma-Aldrich "Your Favorite Gene" Pathways for  RAB5C  (Your Favorite Gene powered by Ingenuity) 
     Clathrin-mediated Endocytosis
     Amyotrophic Lateral Sclerosis Signaling
     Caveolar-mediated Endocytosis

       GeneDecks  RAB5C for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  RAB5C 


    5/7 Interacting proteins for RAB5C (ENSP000003456893 P511481) via UniProtKB, MINT, and/or STRING (see all 7 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB2P321211EBI-1054923, EBI-714559
    DSTYKQ6XUX31EBI-1054923, EBI-1049520
    OSGEPQ9NPF41EBI-1054923, EBI-1056510
    RAB5AP203391EBI-1054923, EBI-399437
    UNC84BQ9UH991EBI-1054923, EBI-1044964
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007032 endosome organization IEA--
    GO:0007264 small GTPase mediated signal transduction IEA--
    GO:0015031 protein transport IEA--
    GO:0030100 regulation of endocytosis IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for RAB5C
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for RAB5C
    2 PharmGKB drug compound relationships for RAB5C gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    mercaptopurinePD  FA  GN  12704389
    methotrexatePD  FA  GN  12704389
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RAB5C)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (RAB5C)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_201434

                  Sigma-Aldrich siRNA for RAB5C  
                         Sigma-Aldrich shRNA for RAB5C  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_004583  NM_201434  

    REFSEQ mRNAs for RAB5C gene (2 alternative transcripts): 

    NM_004583.2   NM_201434.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_004583  NM_201434  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_004583
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_004583
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_004583 

    Additional cDNA sequence: 

    AF141304.1 AF498938.1 AK310234.1 BC106039.1 BC114439.1 BT019484.1 CR541901.1 CR591636.1 
    CR591906.1 CR595237.1 CR595680.1 CR599091.1 CR600279.1 CR600565.1 CR601486.1 CR603551.1 
    CR607771.1 CR607787.1 CR608029.1 CR611639.1 CR612169.1 CR612483.1 CR613867.1 CR615479.1 
    CR617757.1 CR617879.1 CR620573.1 CR620653.1 CR621567.1 CR622103.1 CR623581.1 CR624854.1 
    CR625174.1 CR625641.1 CR626803.1 U11293.1 U18420.1 

    23 DOTS entries:

    DT.218551  DT.100674027  DT.99937115  DT.91773125  DT.100059392  DT.120956965  DT.97868410  DT.100674016 
    DT.120956948  DT.95255713  DT.100048907  DT.120956924  DT.120956947  DT.91645886  DT.100637732  DT.120956920 
    DT.120956963  DT.40240867  DT.95086308  DT.97868408  DT.92034962  DT.95229285  DT.95255752 

    24/939 AceView cDNA sequences (see all 939 ):

    AI924879 AA039471 AW090218 AI634277 CR620573 BM851807 BQ005492 BQ014624 
    BE385553 BP378265 CB529464 BM552922 BX342944 BM795179 BG231732 CR622103 
    BQ921753 BM853755 BI836101 BI088209 AA133267 BQ477732 BG910375 BM705274 

    highest scoring ESTs for RAB5C:

    U18420 AA314438 AI751117 AL517079 AL517904 AL518497 AL530507 AL533620 AL541256 AL549052 

    Unigene Cluster for RAB5C:

    RAB5C, member RAS oncogene family
    Hs.650382  [show with all ESTs]
    Unigene Representative Sequence: NM_201434


    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for RAB5C (see all 13 )

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12
    SP1:              -     -     -     -     -     -     -                                               -     -                                       
    SP2:              -     -           -     -     -     -                                               -     -                                       
    SP3:              -     -     -     -     -     -     -                             -     -     -     -     -                                       
    SP4:                                                                                            -     -     -                                       
    SP5:              -     -     -     -     -     -     -           -     -     -     -     -     -     -     -     -     -                           

    About this scheme

    ECgene alternative splicing isoforms for RAB5C

    2 Ensembl transcripts including schematic representations:
    ENST00000346213  ENST00000393860  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    RAB5C expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for RAB5C

    1 / 2 / 3

    5 probe-sets matching RAB5C gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    34836_at2, 3 U95-A 2 1.00 0.91 1.00 1.00 U18420 1.00 0.90 0.95 1

    201140_s_at2, 3 U133-A 2 1.00 0.95 -- -- NM_004583 0.60 0.83 0.73 1

    201156_s_at2, 3 U133-A 4 1.00 0.75 -- -- AF141304 0.60 0.83 0.73 1

    201140_s_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --

    201156_s_at2 U133Plus2 4 1.00 0.75 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TAACCAATCA

    SOURCE GeneReport for Unigene cluster: Hs.650382

    Expression variation in blood from EXPOLDB for RAB5C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for RAB5C gene from 5/19 species (see all 19 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    RAB5C1   -- RAB5C, member RAS oncogene family 95.06(n)
    98.61(a)
    403941  NM_001003261.1  NP_001003261.1 
    chimpanzee
    (Pan troglodytes)
    RAB5C1   -- RAB5C, member RAS oncogene family 99.85(n)
    100(a)
    454678  XM_511501.2  XP_511501.2 
    cow
    (Bos taurus)
    RAB5C1   -- RAB5C, member RAS oncogene family 95.06(n)
    99.07(a)
    613749  NM_001034743.2  NP_001029915.1 
    rat
    (Rattus norvegicus)
    Rab5c1   -- RAB5C, member RAS oncogene family 92.9(n)
    99.07(a)
    287709  XM_213463.4  XP_213463.1 
    mouse
    (Mus musculus)
    Rab5c1, 5 11 (60.00 cM)5
    RAB5C, member RAS oncogene family1, 5 91.51(n)1
    98.61(a)1
    193451  NM_024456.31  NP_077776.21 
     AB2325955  AI3260105  (see all 18)
    About this table        Species with no ortholog for RAB5C

    ENSEMBL Gene Tree for RAB5C
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for RAB5C gene
    RAB5A2  RAB5B2  RAB172  

    Pseudogenes
    2 related pseudogenes


    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/168 NCBI SNPs in RAB5C are shown (see all 168 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 47)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs72185061,2
    A,C,F,H37560604(+) GACAGT/GGCGGA 2 -- ng319Minor allele frequency- G:0.06EU EA WA NA MN 956
    rs37859001,2
    C,F,H37560694(-) TCCCGC/TGATCC 2 -- ng313Minor allele frequency- T:0.18EU EA MN 520
    --
    rs80819001,2
    A,C37543401(+) actccA/Ggcctg 2 -- int1 ut510--------
    --
    rs109571,2
    F37530706(-) GTCACC/ACCAAC 2 -- ut31 ese31Minor allele frequency- A:0.09MN 184
    rs129469781,2
    C37530145(+) AGAGAA/GAGGAT 2 -- ng510--------
    --
    rs175518841,2
    F37561325(-) TTCCCA/GATCAC 2 -- ng312Minor allele frequency- G:0.06EA MN 400
    --
    rs22303261,2
    C,F37533817(-) AGAGCC/TGTGGA 2 A/A syn1 ese313Minor allele frequency- N:0.00MN EU EA WA NA 1100
    rs22400091,2
    A,C,F,H,O37536668(-) GAATGG/CCCATG 2 -- int17Minor allele frequency- C:0.36NA EU EA WA 558
    rs65036881,2
    A,C,F,H37558035(+) AAGTCG/ATTTCA 2 -- int111Minor allele frequency- A:0.20EU EA WA NA 980
    rs72247371,2
    A,C,F,H37542890(+) atggaG/Agagtt 2 -- int18Minor allele frequency- A:0.36EU EA WA 838
    About this table

    HapMap Linkage Disequilibrium images for RAB5C (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 604037

    1 PharmGKB disease relationship for RAB5C gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1PD  FA  GN  12704389
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/14 PubMed articles for RAB5C gene (see all 14 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 5878 HGNC: 9785 AceView: RAB5CandGCN5L2 Ensembl:ENSG00000108774 euGenes: HUgn5878
    ECgene: RAB5C H-InvDB: RAB5C
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for RAB5C Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for RAB5C:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for RAB5C Antibodies for RAB5C
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for RAB5C Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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