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

Gene ID: 22931, updated on 13-Feb-2019

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 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (27504174..27542237)
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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystemIn addition to the better characterized COPI-dependent retrograde Golgi-to-ER pathway, a second COPI-independent pathway has also been identified. This pathway is RAB6 dependent and transports cargo...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • RAB geranylgeranylation, organism-specific biosystem (from REACTOME)
    RAB geranylgeranylation, organism-specific biosystemHuman cells have more than 60 RAB proteins that are involved in trafficking of proteins in the endolysosomal system. These small GTPases contribute to trafficking specificity by localizing to the mem...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

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
 
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
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum tubular network 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
    5001..43064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001243339.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional in-frame coding exon compared to variant 1. This results in a longer isoform (2) with a 29 aa protein segment not found in isoform 1.
    Source sequence(s)
    AL138920, AY574034, BC015014, CN357871, N56901
    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_001256411.1NP_001243340.1  ras-related protein Rab-18 isoform 3

    See identical proteins and their annotated locations for NP_001243340.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the penultimate coding exon compared to variant 1. This results in a frame-shift, and a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK297629, AL138920, BC015014, CN357871, 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_001256412.1NP_001243341.1  ras-related protein Rab-18 isoform 5

    See identical proteins and their annotated locations for NP_001243341.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks 2 consecutive coding exons compared to variant 1. However, it maintains the reading frame, and encodes a shorter isoform (5) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK295443, AL138920, BC015014, CN357871, N56901
    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_001256415.1NP_001243344.1  ras-related protein Rab-18 isoform 4

    See identical proteins and their annotated locations for NP_001243344.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate donor splice site at an internal exon, and lacks another coding exon compared to variant 1. However, it maintains the reading frame, and encodes a shorter isoform (4) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK299457, AL138920, BC015014, CN357871, N56901
    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_021252.4NP_067075.1  ras-related protein Rab-18 isoform 1

    See identical proteins and their annotated locations for NP_067075.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
    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_046172.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an exon compared to variant 1. It is represented as non-coding because the use of the translational start codon (with a strong Kozak signal) as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL138920, BC015014, BP210053, CN357871, N56901

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    27504174..27542237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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