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

    Gene ID: 5878, updated on 10-Dec-2024

    Summary

    Official Symbol
    RAB5Cprovided by HGNC
    Official Full Name
    RAB5C, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9785
    See related
    Ensembl:ENSG00000108774 MIM:604037; AllianceGenome:HGNC:9785
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 55.2), bone marrow (RPKM 47.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See RAB5C in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42124979..42154989, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42981483..43011474, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40276997..40307007, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40267799-40268334 Neighboring gene lysine acetyltransferase 2A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40275137-40275674 Neighboring gene heat shock protein family B (small) member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12188 Neighboring gene Sharpr-MPRA regulatory region 9875 Neighboring gene RAB5C antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40311466-40312136 Neighboring gene potassium voltage-gated channel subfamily H member 4 Neighboring gene Sharpr-MPRA regulatory region 11697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40330401-40330902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40331553-40332120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8517 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:40333316-40333591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40336245-40337046 Neighboring gene hypocretin neuropeptide precursor

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify ras-related protein Rab-5C (RAB5C), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with RAB5C; predicted interaction to be relevant to vesicular transport/membrane trafficking PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify ras-related protein Rab-5C (RAB5C), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify ras-related protein Rab-5C (RAB5C), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify ras-related protein Rab-5C (RAB5C), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC117217, MGC138857

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity  
    enables GDP binding PubMed 
    enables GTP binding  
    enables GTPase activity  
    enables GTPase activity PubMed 
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis  
    involved_in intracellular protein transport  
    involved_in plasma membrane to endosome transport PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane  
    is_active_in early endosome  
    located_in early endosome membrane  
    is_active_in endocytic vesicle  
    is_active_in endomembrane system  
    located_in endosome  
    located_in extracellular exosome PubMed 
    located_in lipid droplet PubMed 
    located_in lysosomal membrane PubMed 
    located_in melanosome  
    is_active_in plasma membrane  
    located_in plasma membrane  

    General protein information

    Preferred Names
    ras-related protein Rab-5C
    Names
    RAB5C, member of RAS oncogene family
    NP_001238968.1
    NP_004574.2
    NP_958842.1

    NCBI Reference Sequences (RefSeq)

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    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_001252039.2 → NP_001238968.1  ras-related protein Rab-5C isoform b

      See identical proteins and their annotated locations for NP_001238968.1

      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, BP222378
      Consensus CDS
      CCDS58551.1
      UniProtKB/Swiss-Prot
      P51148
      Related
      ENSP00000447053.1, ENST00000547517.5
      Conserved Domains (2) summary
      cd01860
      Location:54 → 216
      Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
      pfam00071
      Location:56 → 217
      Ras; Ras family
    2. NM_004583.4 → NP_004574.2  ras-related protein Rab-5C isoform a

      See identical proteins and their annotated locations for NP_004574.2

      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
      Consensus CDS
      CCDS11419.1
      UniProtKB/Swiss-Prot
      F8W1H5, P51148, Q6FH55, Q9P0Y5
      Related
      ENSP00000345689.5, ENST00000346213.9
      Conserved Domains (1) summary
      cd01860
      Location:21 → 183
      Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    3. NM_201434.3 → NP_958842.1  ras-related protein Rab-5C isoform a

      See identical proteins and their annotated locations for NP_958842.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      BC106039, BM424166, BP222378
      Consensus CDS
      CCDS11419.1
      UniProtKB/Swiss-Prot
      F8W1H5, P51148, Q6FH55, Q9P0Y5
      Conserved Domains (1) summary
      cd01860
      Location:21 → 183
      Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      42124979..42154989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      42981483..43011474 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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