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

    Gene ID: 5878, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Rab5C enhances resistance to ionizing radiation in rectal cancer. Baptistella AR, et al. J Mol Med (Berl), 2019 Jun. PMID 30968159
    2. RAB5C, a new mRNA binding target of HuR, regulates breast cancer cell proliferation. Wang Z, et al. Cell Biol Int, 2023 Feb. PMID 36480789
    3. Deviant expression of Rab5 on phagosomes containing the intracellular pathogens Mycobacterium tuberculosis and Legionella pneumophila is associated with altered phagosomal fate. Clemens DL, et al. Infect Immun, 2000 May. PMID 10768959, Free PMC Article
    4. Interferon-gamma selectively induces Rab5a synthesis and processing in mononuclear cells. Alvarez-Dominguez C, et al. J Biol Chem, 1998 Dec 18. PMID 9852039
    5. Isolation and mapping of a human gene (RABL) encoding a small GTP-binding protein homologous to the Ras-related RAB gene. Han HJ, et al. Cytogenet Cell Genet, 1996. PMID 8646882

    See all (151) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rab5c promotes RSV and ADV replication by autophagy in respiratory epithelial cells.
      Title: Rab5c promotes RSV and ADV replication by autophagy in respiratory epithelial cells.
    2. Macrocephaly and developmental delay caused by missense variants in RAB5C.
      Title: Macrocephaly and developmental delay caused by missense variants in RAB5C.
    3. Long Non-Coding RNA BCAR4 Promotes Oxaliplatin Resistance in Colorectal Cancer by Modulating miR-484-3p/RAB5C Expression.
      Title: Long Non-Coding RNA BCAR4 Promotes Oxaliplatin Resistance in Colorectal Cancer by Modulating miR-484-3p/RAB5C Expression.
    4. Effects of miR-145 targeting rab5c and regulating MAPK / ERK signaling pathway on proliferation and invasion of thyroid papillary carcinoma cells.
      Title: Effects of miR-145 targeting rab5c and regulating MAPK / ERK signaling pathway on proliferation and invasion of thyroid papillary carcinoma cells.
    5. RAB5C, a new mRNA binding target of HuR, regulates breast cancer cell proliferation.
      Title: RAB5C, a new mRNA binding target of HuR, regulates breast cancer cell proliferation.
    6. The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis.
      Title: The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis.
    7. Novel Host Protein TBC1D16, a GTPase Activating Protein of Rab5C, Inhibits Prototype Foamy Virus Replication.
      Title: Novel Host Protein TBC1D16, a GTPase Activating Protein of Rab5C, Inhibits Prototype Foamy Virus Replication.
    8. MiR-145 functions as a tumor suppressor in Papillary Thyroid Cancer by inhibiting RAB5C.
      Title: MiR-145 functions as a tumor suppressor in Papillary Thyroid Cancer by inhibiting RAB5C.
    9. Rab5C orchestrates a mechanism of radioresistance in rectal adenocarcinoma cell.
      Title: Rab5C enhances resistance to ionizing radiation in rectal cancer.
    10. The results reveal that FAK activates Rab5, leading to cell migration.
      Title: Focal adhesion kinase-dependent activation of the early endocytic protein Rab5 is associated with cell migration.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117217, MGC138857

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma membrane to endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in early endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51148.2 GenPept UniProtKB/Swiss-Prot:P51148

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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