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RAB18
HPA
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  • RAB18
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

RAB18
Synonyms
Gene descriptioni

Full gene name according to HGNC.

RAB18, member RAS oncogene family
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 10
Cytoband p12.1
Chromosome location (bp) 27504174 - 27543207
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

14
Ensembl ENSG00000099246 (version 109)
Entrez gene 22931
HGNC HGNC:14244
UniProt Q9NP72 (UniProt - Evidence at protein level)
neXtProt NX_Q9NP72
GeneCards RAB18
Antibodypedia RAB18 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes 1, 2. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion 3, 4. Required for the localization of ZFYVE1 to lipid droplets and for its function in mediating the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts 5. Also required for maintaining endoplasmic reticulum structure 6. Plays a role in apical endocytosis/recycling (By similarity). Plays a key role in eye and brain development and neurodegeneration 7.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Developmental protein
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Host-virus interaction, Protein transport, Transport
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

GTP-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
RAB18-201
ENSP00000349415
ENST00000356940
Q9NP72
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0001654 [eye development]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005811 [lipid droplet]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006886 [intracellular protein transport]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007420 [brain development]
GO:0012505 [endomembrane system]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0016324 [apical plasma membrane]
GO:0019003 [GDP binding]
GO:0030667 [secretory granule membrane]
GO:0034389 [lipid droplet organization]
GO:0071782 [endoplasmic reticulum tubular network]
GO:0071786 [endoplasmic reticulum tubular network organization]
Show all
206 aa
23 kDa
No 0
RAB18-202
ENSP00000364960
ENST00000375802
Q5W0J0
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0005886 [plasma membrane]
Show all
161 aa
18 kDa
No 0
RAB18-203
ENSP00000407872
ENST00000423465
H0Y6T8
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
Show all
55 aa
6.7 kDa
No 0
RAB18-207
ENSP00000439321
ENST00000535776
A0A8C8NLQ3
[Direct mapping] Ras-related protein Rab-18
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0005811 [lipid droplet]
GO:0005886 [plasma membrane]
GO:0016324 [apical plasma membrane]
Show all
183 aa
20.9 kDa
No 0
RAB18-209
ENSP00000478479
ENST00000621805
Q9NP72
[Direct mapping] Ras-related protein Rab-18
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0001654 [eye development]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005811 [lipid droplet]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006886 [intracellular protein transport]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007420 [brain development]
GO:0012505 [endomembrane system]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0016324 [apical plasma membrane]
GO:0019003 [GDP binding]
GO:0030667 [secretory granule membrane]
GO:0034389 [lipid droplet organization]
GO:0071782 [endoplasmic reticulum tubular network]
GO:0071786 [endoplasmic reticulum tubular network organization]
Show all
235 aa
26.4 kDa
No 0
RAB18-214
ENSP00000508355
ENST00000682347
A0A804HLH7
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
50 aa
5.7 kDa
No 0
RAB18-216
ENSP00000507154
ENST00000682389
Q9NP72
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0001654 [eye development]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0005811 [lipid droplet]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006886 [intracellular protein transport]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007420 [brain development]
GO:0012505 [endomembrane system]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0016324 [apical plasma membrane]
GO:0019003 [GDP binding]
GO:0030667 [secretory granule membrane]
GO:0034389 [lipid droplet organization]
GO:0071782 [endoplasmic reticulum tubular network]
GO:0071786 [endoplasmic reticulum tubular network organization]
Show all
142 aa
15.5 kDa
No 0
RAB18-223
ENSP00000507532
ENST00000682963
A0A804HJJ8
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
Show all
89 aa
9.8 kDa
No 0
RAB18-224
ENSP00000507273
ENST00000683030
A0A804HIY1
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
50 aa
5.2 kDa
No 0
RAB18-233
ENSP00000506993
ENST00000683755
A0A804HIB9
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0005811 [lipid droplet]
GO:0005886 [plasma membrane]
GO:0016324 [apical plasma membrane]
Show all
132 aa
14.8 kDa
No 0
RAB18-234
ENSP00000508179
ENST00000683797
A0A804HL33
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
Show all
45 aa
5.1 kDa
No 0
RAB18-238
ENSP00000507934
ENST00000683915
A0A804HKH8
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
79 aa
8.3 kDa
No 0
RAB18-239
ENSP00000507963
ENST00000683924
A0A804HKK5
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
Show all
84 aa
9.9 kDa
No 0
RAB18-244
ENSP00000507589
ENST00000684501
B7Z4P9
[Direct mapping] Ras-related protein Rab-18
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003924 [GTPase activity]
GO:0005525 [GTP binding]
GO:0005811 [lipid droplet]
GO:0005886 [plasma membrane]
GO:0016324 [apical plasma membrane]
Show all
197 aa
22.5 kDa
No 0

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