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

Gene ID: 22931, updated on 5-Apr-2020

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

Genomic context

See RAB18 in Genome Data Viewer
Location:
10p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (27504304..27542239)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27793103..27831166)

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000621805.4
    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
    Conserved Domains (1) summary
    cl21455
    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
    ENSP00000439321.1, ENST00000535776.5
    Conserved Domains (1) summary
    cl21455
    Location:9105
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. NM_001256415.2NP_001243344.1  ras-related protein Rab-18 isoform 4

    See identical proteins and their annotated locations for NP_001243344.1

    Status: REVIEWED

    Source sequence(s)
    AL138920, KF459537
    Consensus CDS
    CCDS73080.1
    UniProtKB/Swiss-Prot
    Q9NP72
    UniProtKB/TrEMBL
    A0A087X163, B7Z5V3
    Related
    ENSP00000483927.1, ENST00000611151.4
    Conserved Domains (1) summary
    cd01863
    Location:9145
    Rab18; Rab GTPase family 18 (Rab18)
  5. 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
    ENSP00000349415.6, ENST00000356940.10
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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)
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