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

Gene ID: 5878, updated on 11-Apr-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

Location:
17q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42124979..42154989, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42981483..43011474, complement)
105.20220307 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001252039.2NP_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
    F8W1H5, P51148, Q6FH55, Q9P0Y5
    Related
    ENSP00000345689.5, ENST00000346213.9
    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
    F8W1H5, P51148, Q6FH55, Q9P0Y5
    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: GCF_000001405.40-RS_2023_10

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)