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

Gene ID: 22931, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:14244
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

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See RAB18 in Genome Data Viewer
Location:
10p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (27504304..27542239)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (27534698..27572633)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27793233..27831168)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11902 Neighboring gene TP53 regulated inhibitor of apoptosis 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9566 Neighboring gene patched domain containing 3 (gene/pseudogene) Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:27754098-27754691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3188 Neighboring gene uncharacterized LOC124902399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:27812349-27812850 Neighboring gene long intergenic non-protein coding RNA 2680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:27888237-27888738 Neighboring gene mohawk homeobox Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:28023032-28024231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:28034239-28034829 Neighboring gene MKX antisense RNA 1

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
  • 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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Related articles in PubMed

  1. COPI-TRAPPII activates Rab18 and regulates its lipid droplet association. Li C, et al. EMBO J, 2017 Feb 15. PMID 28003315, Free PMC Article
  2. RAB18 modulates autophagy in human stellate cells. BasuRay S. J Clin Lipidol, 2019 Sep-Oct. PMID 31563421
  3. Rab18: new insights into the function of an essential protein. Dejgaard SY, et al. Cell Mol Life Sci, 2019 May. PMID 30830238, Free PMC Article
  4. Rab18 is not necessary for lipid droplet biogenesis or turnover in human mammary carcinoma cells. Jayson CBK, et al. Mol Biol Cell, 2018 Aug 15. PMID 29949452, Free PMC Article
  5. Rab18 is reduced in pituitary tumors causing acromegaly and its overexpression reverts growth hormone hypersecretion. Vazquez-Martinez R, et al. J Clin Endocrinol Metab, 2008 Jun. PMID 18349058

See all (120) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rab18 maintains homeostasis of subcutaneous adipose tissue to prevent obesity-induced metabolic disorders.
    Title: Rab18 maintains homeostasis of subcutaneous adipose tissue to prevent obesity-induced metabolic disorders.
  2. 2'3'-cGAMP interactome identifies 2'3'-cGAMP/Rab18/FosB signaling in cell migration control independent of innate immunity.
    Title: 2'3'-cGAMP interactome identifies 2'3'-cGAMP/Rab18/FosB signaling in cell migration control independent of innate immunity.
  3. Rab18 Drift in Lipid Droplet and Endoplasmic Reticulum Interactions of Adipocytes under Obesogenic Conditions.
    Title: Rab18 Drift in Lipid Droplet and Endoplasmic Reticulum Interactions of Adipocytes under Obesogenic Conditions.
  4. Rab18 interacted with V-set and immunoglobulin domain-containing 4 (VSIG4) to involve in the apoptosis of glioma and the sensitivity to temozolomide.
    Title: Rab18 interacted with V-set and immunoglobulin domain-containing 4 (VSIG4) to involve in the apoptosis of glioma and the sensitivity to temozolomide.
  5. Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
    Title: Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
  6. The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
    Title: The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I.
  7. Rab18 regulates focal adhesion dynamics by interacting with kinectin-1 at the endoplasmic reticulum.
    Title: Rab18 regulates focal adhesion dynamics by interacting with kinectin-1 at the endoplasmic reticulum.
  8. Rab18 plays a role upstream of the cytosolic lipolytic enzyme adipose triglyceride lipase (ATGL) and that recruitment of ATGL by Rab18 is mediated by elements of the Arf/GBF1 machinery. We find that Arf4-GFP is accumulated on the subset of lipid droplets associated with Rab18.
    Title: Rab18 regulates lipolysis via Arf/GBF1 and adipose triglyceride lipase.
  9. The study elucidates a role for RAB18 in autophagy and regulation of proteostasis in human stellate cells.
    Title: RAB18 modulates autophagy in human stellate cells.
  10. Studies suggest that rab GTP-binding protein Rab18 (Rab18) functions related to organelle tethering and to autophagy [Review].
    Title: Rab18: new insights into the function of an essential protein.
Submit: New GeneRIF Correction See all GeneRIFs (31)

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

Associated conditions

Description Tests
Warburg micro syndrome 3
MedGen: C3280203 OMIM: 614222 GeneReviews: RAB18 Deficiency
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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
  
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
  
involved_in lipid droplet organization IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
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
  
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

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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_001256410.2 → NP_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, ENST00000621805.6
    Conserved Domains (1) summary
    cd01863
    Location:9 → 198
    Rab18; Rab GTPase family 18 (Rab18)

  2. NM_001256411.2 → NP_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
    Consensus CDS
    CCDS91231.1
    UniProtKB/TrEMBL
    B7Z4P9
    Related
    ENSP00000507589.1, ENST00000684501.1
    Conserved Domains (1) summary
    cl38936
    Location:9 → 131
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. NM_001256412.2 → NP_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:9 → 105
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. NM_021252.5 → NP_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
    B3KMC7, B7Z333, D3DRW1, Q53FX8, Q56UN9, Q6FIH1, Q9NP72
    UniProtKB/TrEMBL
    B7Z5V3
    Related
    ENSP00000349415.7, ENST00000356940.11
    Conserved Domains (1) summary
    cd01863
    Location:9 → 169
    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: 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_000010.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    27534698..27572633
    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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NP72.1 GenPept UniProtKB/Swiss-Prot:Q9NP72

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