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    RAB5C RAB5C, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 5878, updated on 11-May-2013
    Official Symbol
    RAB5Cprovided by HGNC
    Official Full Name
    RAB5C, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:9785
    See related
    Ensembl:ENSG00000108774; HPRD:04947; MIM:604037; Vega:OTTHUMG00000169703
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RABL; L1880; RAB5L; RAB5CL
    Summary
    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]
    Location :
    17q21.2
    Sequence :
    Chromosome: 17; NC_000017.10 (40276994..40307062, complement)
    See RAB5C in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene K(lysine) acetyltransferase 2A Neighboring gene heat shock protein, alpha-crystallin-related, B9 Neighboring gene potassium voltage-gated channel, subfamily H (eag-related), member 4 Neighboring gene hypocretin (orexin) neuropeptide precursor

    Products Interactant Other Gene Complex Source Pubs Description
    P51148 Q15075 EEA1    HPRD  PubMed  
    P51148 Q9UI14 RABAC1    HPRD  PubMed  
    P51148 Q8WYP3 RIN2    HPRD  PubMed  
    P51148 Q8TB24 RIN3    HPRD  PubMed  
    BioGRID:111816 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111816 BioGRID:106902 ARRB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:107452 CDK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:117313 DSTYK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:113999 EEA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111816 BioGRID:115506 FLOT1    BioGRID  PubMed Co-fractionation 
    BioGRID:111816 BioGRID:108621 FN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:109428 HNRNPH1    BioGRID  PubMed Co-fractionation 
    BioGRID:111816 BioGRID:109883 ITGA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:114201 LAMTOR3    BioGRID  PubMed Co-fractionation 
    BioGRID:111816 BioGRID:120779 OSGEP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:202549 Rab5c    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:118164 SGSM3    BioGRID  PubMed Two-hybrid 
    BioGRID:111816 BioGRID:117312 SUN2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:122296 TBC1D15    BioGRID  PubMed Two-hybrid 
    BioGRID:111816 BioGRID:122849 TBC1D17    BioGRID  PubMed Two-hybrid 
    BioGRID:111816 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:113255 VCAM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111816 BioGRID:122084 ZFYVE20    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111816 BioGRID:115560 ZMPSTE24    BioGRID  PubMed Co-fractionation 
    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

    Markers

    Homology

    Clone Names

    • MGC117217, MGC138857

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GDP binding IDA
    Inferred from Direct Assay
    more info
     
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    GTP catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lipid particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ras-related protein Rab-5C
    Names
    ras-related protein Rab-5C
    RAB5C, member of RAS oncogene family

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001252039.1NP_001238968.1  ras-related protein Rab-5C isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, contains an alternate exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is longer and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC003104, AK310234, BC106039, BI963743, BP222378
      Consensus CDS
      CCDS58551.1
      UniProtKB/Swiss-Prot
      P51148
      Conserved Domains (2) summary
      PLN03110
      Location:55249
      Blast Score: 451
      PLN03110; Rab GTPase; Provisional
      cd01860
      Location:54216
      Blast Score: 892
      Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    2. NM_004583.3NP_004574.2  ras-related protein Rab-5C isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      BC106039, BI963743, BP222378
      Consensus CDS
      CCDS11419.1
      UniProtKB/Swiss-Prot
      P51148
      Related
      ENSP00000345689, OTTHUMP00000241915, ENST00000346213, OTTHUMT00000405509
      Conserved Domains (2) summary
      PLN03110
      Location:22216
      Blast Score: 446
      PLN03110; Rab GTPase; Provisional
      cd01860
      Location:21183
      Blast Score: 880
      Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    3. NM_201434.2NP_958842.1  ras-related protein Rab-5C isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      BC106039, BI963743, BM424166, BP222378
      Consensus CDS
      CCDS11419.1
      UniProtKB/Swiss-Prot
      P51148
      Related
      ENSP00000377440, ENST00000393860
      Conserved Domains (2) summary
      PLN03110
      Location:22216
      Blast Score: 446
      PLN03110; Rab GTPase; Provisional
      cd01860
      Location:21183
      Blast Score: 880
      Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003571052.1 Reference GRCh37.p10 PATCHES

      Range
      411618..412535, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p10 Primary Assembly

      Range
      40276994..40307062, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      36042066..36072281, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018928.1 Alternate CHM1_1.0

      Range
      41066059..41096105, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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