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RAB4A RAB4A, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 5867, updated on 8-Jul-2021

Summary

Official Symbol
RAB4Aprovided by HGNC
Official Full Name
RAB4A, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9781
See related
Ensembl:ENSG00000168118 MIM:179511
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAB4; HRES1; HRES-1; HRES-1/RAB4
Summary
This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
Expression
Ubiquitous expression in prostate (RPKM 22.3), heart (RPKM 17.5) and 25 other tissues See more
Orthologs
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Genomic context

See RAB4A in Genome Data Viewer
Location:
1q42.13
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (229271111..229305894)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (229406858..229441641)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2815 Neighboring gene long intergenic non-protein coding RNA 2814 Neighboring gene Sharpr-MPRA regulatory region 2560 Neighboring gene uncharacterized LOC102723935 Neighboring gene uncharacterized LOC105373159 Neighboring gene centriole, cilia and spindle associated protein Neighboring gene RNA, U6 small nuclear 180, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
GeneReviews: Not available
Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Expression of HRES-1/Rab4 is induced by HIV-1 Tat, which in turn down-regulates expression of CD4 and susceptibility to re-infection by HIV-1 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables ATPase binding IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ionotropic glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables syntaxin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in Rab protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in antigen processing and presentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in anchored component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle membrane TAS
Traceable Author Statement
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome membrane TAS
Traceable Author Statement
more info
 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in insulin-responsive compartment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ras-related protein Rab-4A
Names
HTLV-1 related endogenous sequence
NP_001258927.1
NP_004569.2

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_001271998.2NP_001258927.1  ras-related protein Rab-4A isoform 2

    See identical proteins and their annotated locations for NP_001258927.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AY585832, BC004309, BI546021, BX354553
    Consensus CDS
    CCDS73046.1
    UniProtKB/Swiss-Prot
    P20338
    UniProtKB/TrEMBL
    A0A087WYT5
    Related
    ENSP00000482077.1, ENST00000618010.4
    Conserved Domains (1) summary
    cl38936
    Location:569
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_004578.4NP_004569.2  ras-related protein Rab-4A isoform 1

    See identical proteins and their annotated locations for NP_004569.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL162595, AY585832, BC004309, BI546021
    Consensus CDS
    CCDS31050.1
    UniProtKB/Swiss-Prot
    P20338
    UniProtKB/TrEMBL
    A0A024R3U9
    Related
    ENSP00000355651.4, ENST00000366690.5
    Conserved Domains (1) summary
    cd04113
    Location:14174
    Rab4; Rab GTPase family 4 (Rab4)

RNA

  1. NR_073545.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AY585832, BC002438, BC004309, BI828974, HY142709

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    229271111..229305894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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