Human Gene RAB18 (ENST00000356940.11_4) from GENCODE V47lift37
  Description: RAB18, member RAS oncogene family, transcript variant 1 (from RefSeq NM_021252.5)
Gencode Transcript: ENST00000356940.11_4
Gencode Gene: ENSG00000099246.19_13
Transcript (Including UTRs)
   Position: hg19 chr10:27,793,233-27,831,168 Size: 37,936 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr10:27,793,299-27,826,980 Size: 33,682 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:27,793,233-27,831,168)mRNA (may differ from genome)Protein (206 aa)
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-  Comments and Description Text from UniProtKB
  ID: RAB18_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rab-18; Flags: Precursor;
FUNCTION: Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential).
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: Defects in RAB18 are the cause of Warburg micro syndrome type 3 (WARBM3) [MIM:614222]. WARBM3 is a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RAB18
Diseases sorted by gene-association score: warburg micro syndrome 3* (1329), warburg micro syndrome (60), martsolf syndrome (10), warburg micro syndrome 4 (10), warburg micro syndrome 1 (9), spastic diplegia (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.90 RPKM in Adrenal Gland
Total median expression: 729.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.9066-0.377 Picture PostScript Text
3' UTR -988.804188-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025662 - Sigma_54_int_dom_ATP-bd_1
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR003579 - Small_GTPase_Rab_type

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF01926 - 50S ribosome-binding GTPase
PF08477 - Ras of Complex, Roc, domain of DAPkinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X3S - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NP72
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019003 GDP binding

Biological Process:
GO:0001654 eye development
GO:0007264 small GTPase mediated signal transduction
GO:0007275 multicellular organism development
GO:0007420 brain development
GO:0015031 protein transport
GO:0034389 lipid particle organization
GO:0043312 neutrophil degranulation
GO:0051170 nuclear import
GO:0071786 endoplasmic reticulum tubular network organization

Cellular Component:
GO:0005622 intracellular
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030667 secretory granule membrane
GO:0071782 endoplasmic reticulum tubular network


-  Descriptions from all associated GenBank mRNAs
  LP895194 - Sequence 58 from Patent EP3253886.
AY574034 - Homo sapiens RAB18 long isoform 1 (RAB18) mRNA, complete cds.
AK297629 - Homo sapiens cDNA FLJ51678 complete cds, highly similar to Ras-related protein Rab-18.
AK299457 - Homo sapiens cDNA FLJ53088 complete cds, highly similar to Ras-related protein Rab-18.
AK295443 - Homo sapiens cDNA FLJ50154 complete cds, moderately similar to Ras-related protein Rab-18.
BC029350 - Homo sapiens RAB18, member RAS oncogene family, mRNA (cDNA clone MGC:26838 IMAGE:4819866), complete cds.
AF087860 - Homo sapiens rab18 mRNA, complete cds.
BC015014 - Homo sapiens RAB18, member RAS oncogene family, mRNA (cDNA clone MGC:8766 IMAGE:3922029), complete cds.
AL136734 - Homo sapiens mRNA; cDNA DKFZp434N0410 (from clone DKFZp434N0410).
AF136974 - Homo sapiens ras-related protein 18 mRNA, complete cds.
AK223153 - Homo sapiens mRNA for RAB18, member RAS oncogene family variant, clone: LNG03005.
AF274957 - Homo sapiens PNAS-32 mRNA, complete cds.
JD435176 - Sequence 416200 from Patent EP1572962.
JD207262 - Sequence 188286 from Patent EP1572962.
AB464117 - Synthetic construct DNA, clone: pF1KB8325, Homo sapiens RAB18 gene for RAB18, member RAS oncogene family, without stop codon, in Flexi system.
AM393142 - Synthetic construct Homo sapiens clone IMAGE:100001742 for hypothetical protein (RAB18 gene).
BT009840 - Homo sapiens RAB18, member RAS oncogene family mRNA, complete cds.
CU677165 - Synthetic construct Homo sapiens gateway clone IMAGE:100018568 5' read RAB18 mRNA.
AF498950 - Homo sapiens small GTP binding protein RAB18 (RAB18) mRNA, complete cds.
CR533455 - Homo sapiens full open reading frame cDNA clone RZPDo834E1016D for gene RAB18, RAB18, member RAS oncogene family; complete cds, incl. stopcodon.
AF137372 - Homo sapiens ras-related protein RAB18 mRNA, complete cds.
AK001555 - Homo sapiens cDNA FLJ10693 fis, clone NT2RP3000366, highly similar to RAS-RELATED PROTEIN RAB-18.
AB209698 - Homo sapiens mRNA for RAB18, member RAS oncogene family variant protein.
JD499400 - Sequence 480424 from Patent EP1572962.
JD152687 - Sequence 133711 from Patent EP1572962.
AF532968 - Homo sapiens hypothetical medulloblastoma antigen MU-MB-50.63 mRNA, complete cds.
JD359281 - Sequence 340305 from Patent EP1572962.
JD251512 - Sequence 232536 from Patent EP1572962.
JD504282 - Sequence 485306 from Patent EP1572962.
JD250716 - Sequence 231740 from Patent EP1572962.
JD300468 - Sequence 281492 from Patent EP1572962.
JD262690 - Sequence 243714 from Patent EP1572962.
JD093523 - Sequence 74547 from Patent EP1572962.
JD225865 - Sequence 206889 from Patent EP1572962.
JD528384 - Sequence 509408 from Patent EP1572962.
JD563306 - Sequence 544330 from Patent EP1572962.
JD154745 - Sequence 135769 from Patent EP1572962.
JD053189 - Sequence 34213 from Patent EP1572962.
JD327000 - Sequence 308024 from Patent EP1572962.
JD467611 - Sequence 448635 from Patent EP1572962.
JD233508 - Sequence 214532 from Patent EP1572962.
JD284191 - Sequence 265215 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NP72 (Reactome details) participates in the following event(s):

R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-8850040 RAB3GAP1:RAB3GAP2 recruits RAB18:GCDP to ER
R-HSA-8877998 RAB3GAP1:RAB3GAP2 exchanges GTP for GDP on RAB18
R-HSA-8850041 RAB3GAP1:RAB3GAP2 promotes nucleotide exchange on RAB18
R-HSA-8870466 RGGT:CHM binds RABs
R-HSA-8870469 RGGT geranylgeranylates RAB proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-168249 Innate Immune System
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-8873719 RAB geranylgeranylation
R-HSA-9007101 Rab regulation of trafficking
R-HSA-168256 Immune System
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-597592 Post-translational protein modification
R-HSA-199991 Membrane Trafficking
R-HSA-392499 Metabolism of proteins
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B3KMC7, B7Z333, D3DRW1, ENST00000356940.1, ENST00000356940.10, ENST00000356940.2, ENST00000356940.3, ENST00000356940.4, ENST00000356940.5, ENST00000356940.6, ENST00000356940.7, ENST00000356940.8, ENST00000356940.9, NM_021252, Q53FX8, Q56UN9, Q6FIH1, Q9NP72, RAB18_HUMAN, uc317zun.1, uc317zun.2
UCSC ID: ENST00000356940.11_4
RefSeq Accession: NM_021252.5
Protein: Q9NP72 (aka RAB18_HUMAN or RB18_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RAB18:
rab18-def (RAB18 Deficiency)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.