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

Gene ID: 5878, updated on 14-Nov-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
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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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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 Variation Viewer (GRCh37.p13)

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
  
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome membrane TAS
Traceable Author Statement
more info
  
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
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
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
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

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