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RAB5C Gene

protein-coding   GIFtS: 64
GCID: GC17M040276

RAB5C, Member RAS Oncogene Family


(Previous symbol: RABL)
  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)
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Aliases
RAB5C, Member RAS Oncogene Family1 2     Member Of RAS Oncogene Family1
RABL1 2 3 5     Member Of RAS Oncogene Family-Like1
L18802 3     RAB5CL2
RAB5L2 3     RAB5C, Member Of RAS Oncogene Family2
RAB1     Ras-Related Protein Rab-5C2
RAB5C1     

External Ids:    HGNC: 97851   Entrez Gene: 58782   Ensembl: ENSG000001087747   OMIM: 6040375   UniProtKB: P511483   

Export aliases for RAB5C gene to outside databases

Previous GC identifers: GC17M039830 GC17M042432 GC17M040185 GC17M040650 GC17M037530 GC17M036043


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RAB5C Gene:
Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in
the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996
(PubMed 8646882)).(supplied by OMIM, Nov 2010)

GeneCards Summary for RAB5C Gene:
RAB5C (RAB5C, member RAS oncogene family) is a protein-coding gene. Diseases associated with RAB5C include periodontitis, and breast and colorectal cancer. GO annotations related to this gene include GDP binding and GTP binding. An important paralog of this gene is RAB20.

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

Gene Wiki entry for RAB5C 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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAB5C gene promoter:
         SRF   NRSF form 1   SRF (504 AA)   HTF   NRSF form 2   E47   PPAR-gamma1   COUP-TF   Hand1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAB5C promoter sequence
   Search Chromatin IP Primers for RAB5C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAB5C


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

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)
RAB5C gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M040276:  view genomic region     (about GC identifiers)

Start:
40,276,994 bp from pter      End:
40,307,035 bp from pter
Size:
30,042 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003571052 411,621-412,535     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: F8W1H5 Q6FH55 Q9P0Y5
Alternative splicing: 2 isoforms:  P51148-1   P51148-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAB5C: NX_P51148

Explore proteomics data for RAB5C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys117, Lys135
  • Modification sites at PhosphoSitePlus

  • See RAB5C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001238968.1  NP_004574.2  NP_958842.1  

    ENSEMBL proteins: 
     ENSP00000345689   ENSP00000447053   ENSP00000467144   ENSP00000449612   ENSP00000449777  
     ENSP00000448314   ENSP00000377440  
    Reactome Protein details: P51148

    RAB5C Human Recombinant Protein Products:

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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 P51148

    ProtoNet protein and cluster: P51148

    1 Blocks protein domain: IPB001806 Transforming protein P21 RAS signature

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


    RAB5C 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS8646882
    GO:0005515protein binding ----
    GO:0005525GTP binding IEA--
    GO:0019003GDP binding IDA--
         
    RAB5C for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for RAB5C:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella-containin 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rab5c):
     mortality/aging 

    RAB5C for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAB5C
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    miRNA
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    miRTarBase miRNAs that target RAB5C:
    hsa-mir-221-3p (MIRT046868), hsa-mir-100-5p (MIRT048550), hsa-mir-193b-3p (MIRT016288), hsa-mir-149-5p (MIRT045447), hsa-mir-155-5p (MIRT001510)

    Block miRNA regulation of human, mouse, rat RAB5C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAB5C (see all 51):
    hsa-miR-3164 hsa-miR-520e hsa-miR-302d hsa-miR-218-1* hsa-miR-765 hsa-let-7a-2* hsa-miR-486-3p hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidRAB5C 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RAB5C

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    Sino Biological Human cDNA Clone for RAB5C
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB5C

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB5C


    (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
    RAB5C_HUMAN, P51148: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    cytosol2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IDA17897319
    GO:0005811lipid particle IDA14741744

    RAB5C for ontologies           About GeneDecksing


    (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 RAB5C About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    3Ras signaling pathway
    Ras signaling pathway0.36
    4Vasopressin-regulated water reabsorption
    Vasopressin-regulated water reabsorption
    5Tuberculosis
    Tuberculosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RAB5C
        SMAD Signaling Network
    Remodeling of Adherens Junctions
    Epithelial Tight Junctions


    1 Reactome Pathway for RAB5C
        Golgi Associated Vesicle Biogenesis


    Selected Kegg Pathways  (Kegg details for RAB5C) (see all 6):
        Ras signaling pathway
    Endocytosis
    Phagosome
    Vasopressin-regulated water reabsorption
    Amoebiasis


    RAB5C for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RAB5C
    Interactions:

        GeneGlobe Interaction Network for RAB5C

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

    Selected Interacting proteins for RAB5C (P511483 ENSP000003456894) via UniProtKB, MINT, STRING, and/or I2D (see all 114)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OSGEPQ9NPF43, ENSP000002065424I2D: score=2 STRING: ENSP00000206542
    SUN2Q9UH993, ENSP000002160644I2D: score=2 STRING: ENSP00000216064
    PIK3C3Q8NEB93, ENSP000002620394I2D: score=1 STRING: ENSP00000262039
    RIN3Q8TB243, ENSP000002164874I2D: score=1 STRING: ENSP00000216487
    RAB5AP203393, ENSP000002730474I2D: score=1 STRING: ENSP00000273047
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS8646882
    GO:0006886intracellular protein transport ----
    GO:0006913nucleocytoplasmic transport ----
    GO:0007032endosome organization IEA--
    GO:0007165signal transduction ----

    RAB5C for ontologies           About GeneDecksing



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

    Browse Tocris compounds for RAB5C



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RAB5C gene (3 alternative transcripts): 
    NM_001252039.1  NM_004583.3  NM_201434.2  

    Unigene Cluster for RAB5C:

    RAB5C, member RAS oncogene family
    Hs.650382  [show with all ESTs]
    Unigene Representative Sequence: NM_001252039
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346213(uc010cxx.3 uc002hza.3) ENST00000547517 ENST00000551338
    ENST00000552162 ENST00000546881 ENST00000550504 ENST00000550406 ENST00000550013
    ENST00000393860(uc002hyz.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RAB5C (see all 51):
    hsa-miR-3164 hsa-miR-520e hsa-miR-302d hsa-miR-218-1* hsa-miR-765 hsa-let-7a-2* hsa-miR-486-3p hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidRAB5C 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): RAB5C (NM_201434)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAB5C
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      QuantiTect SYBR Green Assays in human, mouse, rat RAB5C
      QuantiFast Probe-based Assays in human, mouse, rat RAB5C

    Additional mRNA sequence: 

    AF141304.1 AF498938.1 AK310234.1 BC106039.1 BC114439.1 BT019484.1 CR541901.1 U11293.1 
    U18420.1 

    21 DOTS entries:

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

    Selected AceView cDNA sequences (see all 939):

    AA872135 CR625641 BI088209 CR617757 AI285811 BM705274 BG910375 BI770732 
    BU556704 AU143628 CR595680 CR625174 BM424202 BM563618 AI272124 AI819556 
    BQ723274 CA396076 AI093720 BM791599 BU181441 BX445994 CB529464 BM920001 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RAB5C (see all 13)    About this scheme

    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:              -     -     -     -     -     -     -           -     -     -     -     -     -     -     -     -     -                           


    ECgene alternative splicing isoforms for RAB5C

    (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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    RAB5C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACCAATCA
    RAB5C Expression
    About this image


    RAB5C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    RAB5C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAB5C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.650382
        Custom PCR Arrays for RAB5C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAB5C

    (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 RAB5C gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rab5c1 , 5 RAB5C, member RAS oncogene family1, 5 91.51(n)1
    98.61(a)1
      11 (63.54 cM)5
    193451  NM_024456.41  NP_077776.21 
     1007150095 
    chicken
    (Gallus gallus)
    Aves RAB5C1 RAB5C, member RAS oncogene family 83.49(n)
    94.44(a)
      395197  NM_204525.1  NP_989856.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAB5C6
    RAB5C, member RAS oncogene family
    93(a)
    1 ↔ 1
    6(72860441-72875384)
    African clawed frog
    (Xenopus laevis)
    Amphibia rab5-prov2 Rab-protein 5 88.59(n)    BC056058.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj38g082 Danio rerio cDNA clone MGC56009 IMAGE3819814, complete more 82.91(n)    BC047803.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rab51 , 3 establishment and/or maintenance of
    chromatin more3
    Rab51
    74(a)
    (best of 2)3
    66.97(n)1
    73.85(a)1
      22E13
    334181  NM_001272998.11  NP_001259927.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rab-56
    Protein RAB-5 (rab-5) mRNA, complete cds
    77(a)
    1 → many
    I(9308442-9310221) WBGene00004268
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YPT52(YKR014C)4 Rab family GTPase, similar to Ypt51p and Ypt53p and more   --   11(466071-465367) 853884  NP_012939.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.62072 Transcribed sequence with moderate similarity to protein more 72.03(n)  
    barley
    (Hordeum vulgare)
    Liliopsida BQ768534.12   -- 75.11(n)    BQ768534.1 


    ENSEMBL Gene Tree for RAB5C (if available)
    TreeFam Gene Tree for RAB5C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAB5C gene
    RAB202  ENSG000002672612  RAB312  RAB5B2  RAB212  RAB5A2  RAB242  RAB22A2  
    RAB172  
    Selected SIMAP similar genes for RAB5C using alignment to 5 protein entries:     RAB5C_HUMAN (see all proteins) (see all similar genes):
    RAB5B    RAB5A    rab1b    DKFZp686J06205    RAB22A    RAB11A
    RAB17    RAB6B    RAB21    RAB39B    RAB11B    RAB6A
    RAB24    RAB30    RAB41    DKFZp686J07132    RAB1C    RAB15

    RAB5C for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RAB5C
    PGOHUM00000261087 PGOHUM00000261413


    (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 RAB5C (see all 623)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364144
    A colorectal cancer sample4--see VAR_0364142 R H mis40--------
    rs1454983381,2
    C--40276505(+) GGTGT-/GTGGGG 3 -- int10--------
    rs3700800531,2
    C--40276506(+) GGTGT-/GGGGGG 3 -- int10--------
    rs1888012711,2
    --40276507(+) GGTGTG/TGGGGG 3 -- int10--------
    rs129469781,2
    C,F,H--40276619(+) AGAGAG/AAGGAT 3 -- int17Minor allele frequency- A:0.04NS NA WA 1086
    rs1181856461,2
    C,F--40276637(+) CTCTCA/GCTGGT 3 -- int11Minor allele frequency- G:0.01NA 120
    rs358357021,2
    C--40276654(+) CAACC-/AAAAAA 3 -- int11Minor allele frequency- A:0.00NA 2
    rs2021713801,2
    C--40276664(-) TCTTTG/TGGTTT 3 -- int10--------
    rs1393310131,2
    C--40276917(+) AGATTC/TAGTGG 3 -- int10--------
    rs1415903171,2
    --40277039(+) CTGATC/TGGTTA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for RAB5C (40276994 - 40307035 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RAB5C:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1008006CNV Insertion20482838
    dgv3169n71CNV Loss21882294
    nsv908241CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAB5C
    DNA2.0 Custom Variant and Variant Library Synthesis for RAB5C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604037    OMIM disorders: --

    5 diseases for RAB5C:    
    About MalaCards
    periodontitis    breast and colorectal cancer    tuberculosis    malaria
    colorectal cancer


    RAB5C for disorders           About GeneDecksing


    Export disorders for RAB5C 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 RAB5C gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with RAB5C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and mapping of a human gene (RABL) encoding a small GTP- binding protein homologous to the Ras-related RAB gene. (PubMed id 8646882)1, 2, 3, 9 Han H.J.... Nakamura Y. (Cytogenet. Cell Genet. 1996)
    2. 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)
    3. Determinants of Rab5 interaction with the N-terminus of early endosome antigen 1. (PubMed id 12493736)1, 2 Merithew E.... Lambright D.G. (J. Biol. Chem. 2003)
    4. Deviant expression of Rab5 on phagosomes containing the intracellular pathogens Mycobacterium tuberculosis and Legionella pneumophila is associated with altered phagosomal fate. (PubMed id 10768959)1, 2 Clemens D.L.... Horwitz M.A. (Infect. Immun. 2000)
    5. A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21. (PubMed id 7951316)1, 2 Albertsen H.M....White R. (Nat. Genet. 1994)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. Proteomic analysis of I+4I^1 integrin adhesion complexes reveals I+-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (Proteomics 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Rab5c promotes AMAP1-PRKD2 complex formation to enhance I^1 integrin recycling in EGF-induced cancer invasion. (PubMed id 22734003)1 Onodera Y....Sabe H. (J. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 5878 HGNC: 9785 AceView: RAB5CandGCN5L2 Ensembl:ENSG00000108774 euGenes: HUgn5878
    ECgene: RAB5C Kegg: 5878 H-InvDB: RAB5C

    (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 RAB5C Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAB5C 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 RAB5C gene:
    Search GeneIP for patents involving RAB5C

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



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