RAB18

Protein identityUniProt · HPA

UniProt accession

Q9NP72

Gene

RAB18

Ensembl

ENSG00000099246

Chromosome

10

Canonical length

206 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

206 residues, UniProt reviewed canonical sequence.

>Q9NP72|RAB18
     1  MDEDVLTTLK ILIIGESGVG KSSLLLRFTD DTFDPELAAT IGVDFKVKTI SVDGNKAKLA
    61  IWDTAGQERF RTLTPSYYRG AQGVILVYDV TRRDTFVKLD NWLNELETYC TRNDIVNMLV
   121  GNKIDKENRE VDRNEGLKFA RKHSMLFIEA SAKTCDGVQC AFEELVEKII QTPGLWESEN
   181  QNKGVKLSHR EEGQGGGACG GYCSVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAB18 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

93 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAB18.

Disease | AllUniProt

Conditions RAB18 is implicated in, by any mechanism.

• Warburg micro syndrome 3 (WARBM3) MIM:614222

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 209 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Warburg micro syndrome 3

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.39

gnomAD pLI

0.91

gnomAD missense Z

1.39

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• endoplasmic reticulum tubular network organization
• eye development
• intracellular protein transport
• lipid droplet organization
• small GTPase-mediated signal transduction

Molecular functions

• G protein activity
• GDP binding
• GTP binding
• GTPase activity

Cellular components

• apical plasma membrane
• cis-Golgi network membrane
• cytosol
• endomembrane system
• endoplasmic reticulum membrane
• endoplasmic reticulum tubular network
• Golgi apparatus
• lipid droplet
• plasma membrane
• secretory granule membrane

Protein domainsUniProt · Pfam · InterPro

• Small GTPase
• Small GTP-binding domain
• Sigma-54 interaction domain, ATP-binding site 1
• P-loop containing nucleoside triphosphate hydrolase
• Ras-related protein Rab
• Ras family

KeywordsUniProt

• Acetylation
• Cell membrane
• Developmental protein
• Endoplasmic reticulum
• Golgi apparatus
• GTP-binding
• Host-virus interaction
• Hydrolase
• Lipid droplet
• Lipoprotein
• Membrane
• Methylation
• Nucleotide-binding
• Palmitate
• Phosphoprotein
• Prenylation
• Protein transport
• Transport

InteractionsUniProt · HPA

Protein binding partners of RAB18 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BSCL2
• ZW10
• ZFYVE1
• GDI1