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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
    mouse all
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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
    		Compare labs

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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