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

Gene ID: 5878, updated on 5-Jul-2020

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
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

Genomic context

See RAB5C in Genome Data Viewer
Location:
17q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42124979..42154989, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40276994..40307062, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene lysine acetyltransferase 2A Neighboring gene heat shock protein family B (small) member 9 Neighboring gene uncharacterized LOC105371781 Neighboring gene Sharpr-MPRA regulatory region 9875 Neighboring gene potassium voltage-gated channel subfamily H member 4 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117217, MGC138857

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
ras-related protein Rab-5C
Names
RAB5C, member of RAS oncogene family

NCBI Reference Sequences (RefSeq)

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_001252039.2NP_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:54216
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
    pfam00071
    Location:56217
    Ras; Ras family
  2. NM_004583.4NP_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
    P51148
    UniProtKB/TrEMBL
    A0A024R1U4
    Related
    ENSP00000345689.4, ENST00000346213.8
    Conserved Domains (1) summary
    cd01860
    Location:21183
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion
  3. NM_201434.3NP_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
    P51148
    UniProtKB/TrEMBL
    A0A024R1U4
    Conserved Domains (1) summary
    cd01860
    Location:21183
    Rab5_related; Rab-related GTPase family includes Rab5 and Rab22; regulates early endosome fusion

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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