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RAB18 RAB18, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 22931, updated on 25-Nov-2021

Summary

Official Symbol
RAB18provided by HGNC
Official Full Name
RAB18, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:14244
See related
Ensembl:ENSG00000099246 MIM:602207
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
WARBM3; RAB18LI1
Summary
The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Expression
Ubiquitous expression in adrenal (RPKM 23.5), brain (RPKM 23.2) and 25 other tissues See more
Orthologs
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Genomic context

See RAB18 in Genome Data Viewer
Location:
10p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (27504304..27542239)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27793233..27831168)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene TP53 regulated inhibitor of apoptosis 1 pseudogene 1 Neighboring gene patched domain containing 3 (gene/pseudogene) Neighboring gene long intergenic non-protein coding RNA 2680 Neighboring gene mohawk homeobox Neighboring gene MKX antisense RNA 1

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?

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 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
PubMed 
enables GTPase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lipid droplet organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within lipid droplet organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in small GTPase mediated signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum tubular network IDA
Inferred from Direct Assay
more info
PubMed 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ras-related protein Rab-18
Names
RAB18 small GTPase

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.

Genomic

  1. NG_032035.1 RefSeqGene

    Range
    5131..43066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256410.2NP_001243339.1  ras-related protein Rab-18 isoform 2

    See identical proteins and their annotated locations for NP_001243339.1

    Status: REVIEWED

    Source sequence(s)
    AL138920, KF459537
    Consensus CDS
    CCDS73081.1
    UniProtKB/Swiss-Prot
    Q9NP72
    Related
    ENSP00000478479.1, ENST00000621805.5
    Conserved Domains (1) summary
    cd01863
    Location:9198
    Rab18; Rab GTPase family 18 (Rab18)
  2. NM_001256411.2NP_001243340.1  ras-related protein Rab-18 isoform 3

    See identical proteins and their annotated locations for NP_001243340.1

    Status: REVIEWED

    Source sequence(s)
    AK297629, AL138920, BC015014, N56901
    UniProtKB/Swiss-Prot
    Q9NP72
    UniProtKB/TrEMBL
    B7Z4P9
    Related
    ENSP00000507589.1, ENST00000684501.1
    Conserved Domains (1) summary
    cl38936
    Location:9131
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_001256412.2NP_001243341.1  ras-related protein Rab-18 isoform 5

    See identical proteins and their annotated locations for NP_001243341.1

    Status: REVIEWED

    Source sequence(s)
    AL138920, KF459537
    Consensus CDS
    CCDS58073.1
    UniProtKB/Swiss-Prot
    Q9NP72
    Related
    ENSP00000507154.1, ENST00000682389.1
    Conserved Domains (1) summary
    cl21455
    Location:9105
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. NM_021252.5NP_067075.1  ras-related protein Rab-18 isoform 1

    See identical proteins and their annotated locations for NP_067075.1

    Status: REVIEWED

    Source sequence(s)
    AL138920, BC015014, CN357871, N56901
    Consensus CDS
    CCDS7155.1
    UniProtKB/Swiss-Prot
    Q9NP72
    Related
    ENSP00000349415.7, ENST00000356940.11
    Conserved Domains (1) summary
    cd01863
    Location:9169
    Rab18; Rab GTPase family 18 (Rab18)

RNA

  1. NR_046172.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL138920, BC015014, BP210053, CN357871, N56901
    Related
    ENST00000611151.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    27504304..27542239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001256415.2: Suppressed sequence

    Description
    NM_001256415.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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