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Protein

Ras-related protein Rab-18

Gene

RAB18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi15 – 23GTP9
Nucleotide bindingi63 – 67GTP5
Nucleotide bindingi122 – 125GTP4
Nucleotide bindingi151 – 153GTP3

GO - Molecular functioni

  • GDP binding Source: UniProtKB
  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW

GO - Biological processi

  • brain development Source: UniProtKB
  • endoplasmic reticulum tubular network organization Source: UniProtKB
  • eye development Source: UniProtKB
  • lipid particle organization Source: MGI
  • protein transport Source: UniProtKB-KW
  • small GTPase mediated signal transduction Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099246-MONOMER.
ReactomeiR-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.

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-18
Gene namesi
Name:RAB18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:14244. RAB18.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • endoplasmic reticulum membrane Source: Reactome
  • endoplasmic reticulum tubular network Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • intracellular Source: LIFEdb
  • plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Warburg micro syndrome 3 (WARBM3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614222
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06649524L → Q in WARBM3. 1 PublicationCorresponds to variant rs387906832dbSNPEnsembl.1
Natural variantiVAR_06649693Missing in WARBM3. 1 Publication1

Organism-specific databases

DisGeNETi22931.
MalaCardsiRAB18.
MIMi614222. phenotype.
OpenTargetsiENSG00000099246.
Orphaneti2510. Micro syndrome.
PharmGKBiPA34106.

Polymorphism and mutation databases

BioMutaiRAB18.
DMDMi12230528.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001211931 – 203Ras-related protein Rab-18Add BLAST203
PropeptideiPRO_0000370761204 – 206Removed in mature formSequence analysis3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei144PhosphoserineBy similarity1
Lipidationi199S-palmitoyl cysteineSequence analysis1
Modified residuei203Cysteine methyl esterSequence analysis1
Lipidationi203S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Acetylation, Lipoprotein, Methylation, Palmitate, Phosphoprotein, Prenylation

Proteomic databases

EPDiQ9NP72.
MaxQBiQ9NP72.
PaxDbiQ9NP72.
PeptideAtlasiQ9NP72.
PRIDEiQ9NP72.

PTM databases

iPTMnetiQ9NP72.
PhosphoSitePlusiQ9NP72.
SwissPalmiQ9NP72.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000099246.
CleanExiHS_RAB18.
ExpressionAtlasiQ9NP72. baseline and differential.
GenevisibleiQ9NP72. HS.

Organism-specific databases

HPAiHPA025928.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
Q99IB85EBI-722247,EBI-6927873From a different organism.
TAX1BP1Q86VP13EBI-722247,EBI-529518

Protein-protein interaction databases

BioGridi116591. 22 interactors.
DIPiDIP-60514N.
IntActiQ9NP72. 23 interactors.
MINTiMINT-5003598.
STRINGi9606.ENSP00000349415.

Structurei

Secondary structure

1206
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi5 – 14Combined sources10
Helixi21 – 30Combined sources10
Beta strandi42 – 52Combined sources11
Beta strandi55 – 64Combined sources10
Helixi68 – 70Combined sources3
Helixi74 – 78Combined sources5
Beta strandi83 – 89Combined sources7
Helixi93 – 97Combined sources5
Helixi99 – 106Combined sources8
Beta strandi116 – 122Combined sources7
Beta strandi126 – 128Combined sources3
Helixi133 – 142Combined sources10
Beta strandi146 – 149Combined sources4
Turni152 – 154Combined sources3
Helixi158 – 170Combined sources13
Helixi173 – 175Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X3SX-ray1.32A1-182[»]
ProteinModelPortaliQ9NP72.
SMRiQ9NP72.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NP72.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi37 – 45Effector regionBy similarity9

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiKOG0080. Eukaryota.
ENOG410XPD0. LUCA.
GeneTreeiENSGT00860000133677.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiQ9NP72.
KOiK07910.
OMAiRKIMETD.
PhylomeDBiQ9NP72.
TreeFamiTF313448.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR025662. Sigma_54_int_dom_ATP-bd_1.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NP72-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDEDVLTTLK ILIIGESGVG KSSLLLRFTD DTFDPELAAT IGVDFKVKTI
60 70 80 90 100
SVDGNKAKLA IWDTAGQERF RTLTPSYYRG AQGVILVYDV TRRDTFVKLD
110 120 130 140 150
NWLNELETYC TRNDIVNMLV GNKIDKENRE VDRNEGLKFA RKHSMLFIEA
160 170 180 190 200
SAKTCDGVQC AFEELVEKII QTPGLWESEN QNKGVKLSHR EEGQGGGACG

GYCSVL
Length:206
Mass (Da):22,977
Last modified:October 1, 2000 - v1
Checksum:iD1B0F4866547DF77
GO
Isoform 2 (identifier: Q9NP72-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     62-62: W → WVTLHQQTANFFLKSQIGNSPILKWAMWQY

Note: Highly expressed in testis.
Show »
Length:235
Mass (Da):26,410
Checksum:i3E11FA232CFEDCFF
GO
Isoform 3 (identifier: Q9NP72-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-126: Missing.

Note: No experimental confirmation available.
Show »
Length:142
Mass (Da):15,508
Checksum:i9B8066F80314F7A0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti61I → L in BAD96873 (Ref. 11) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06649524L → Q in WARBM3. 1 PublicationCorresponds to variant rs387906832dbSNPEnsembl.1
Natural variantiVAR_06649693Missing in WARBM3. 1 Publication1
Natural variantiVAR_051713113N → S.Corresponds to variant rs12268932dbSNPEnsembl.1
Natural variantiVAR_034432198A → T.Corresponds to variant rs11015859dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04391262W → WVTLHQQTANFFLKSQIGNS PILKWAMWQY in isoform 2. 1 Publication1
Alternative sequenceiVSP_04488363 – 126Missing in isoform 3. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ277145
, AJ277146, AJ277147, AJ277148, AJ277149 Genomic DNA. Translation: CAB86486.1.
AF137372 mRNA. Translation: AAF61433.1.
AY574034 mRNA. Translation: AAU08232.1.
AF087860 mRNA. Translation: AAP97170.1.
AF498950 mRNA. Translation: AAM21098.1.
AF136974 mRNA. Translation: AAG49435.1.
AL136734 mRNA. Translation: CAB66668.1.
BT009840 mRNA. Translation: AAP88842.1.
CR533455 mRNA. Translation: CAG38486.1.
AK001555 mRNA. Translation: BAG50939.1.
AK295443 mRNA. Translation: BAH12069.1.
AK223153 mRNA. Translation: BAD96873.1.
AL138920 Genomic DNA. Translation: CAH70590.1.
CH471072 Genomic DNA. Translation: EAW86054.1.
CH471072 Genomic DNA. Translation: EAW86055.1.
BC015014 mRNA. Translation: AAH15014.1.
BC029350 mRNA. Translation: AAH29350.1.
CCDSiCCDS58073.1. [Q9NP72-3]
CCDS7155.1. [Q9NP72-1]
CCDS73081.1. [Q9NP72-2]
RefSeqiNP_001243339.1. NM_001256410.1. [Q9NP72-2]
NP_001243340.1. NM_001256411.1.
NP_001243341.1. NM_001256412.1. [Q9NP72-3]
NP_001243344.1. NM_001256415.1.
NP_067075.1. NM_021252.4. [Q9NP72-1]
UniGeneiHs.406799.

Genome annotation databases

EnsembliENST00000356940; ENSP00000349415; ENSG00000099246. [Q9NP72-1]
ENST00000535776; ENSP00000439321; ENSG00000099246. [Q9NP72-3]
ENST00000621805; ENSP00000478479; ENSG00000099246. [Q9NP72-2]
GeneIDi22931.
KEGGihsa:22931.
UCSCiuc001itv.5. human. [Q9NP72-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ277145
, AJ277146, AJ277147, AJ277148, AJ277149 Genomic DNA. Translation: CAB86486.1.
AF137372 mRNA. Translation: AAF61433.1.
AY574034 mRNA. Translation: AAU08232.1.
AF087860 mRNA. Translation: AAP97170.1.
AF498950 mRNA. Translation: AAM21098.1.
AF136974 mRNA. Translation: AAG49435.1.
AL136734 mRNA. Translation: CAB66668.1.
BT009840 mRNA. Translation: AAP88842.1.
CR533455 mRNA. Translation: CAG38486.1.
AK001555 mRNA. Translation: BAG50939.1.
AK295443 mRNA. Translation: BAH12069.1.
AK223153 mRNA. Translation: BAD96873.1.
AL138920 Genomic DNA. Translation: CAH70590.1.
CH471072 Genomic DNA. Translation: EAW86054.1.
CH471072 Genomic DNA. Translation: EAW86055.1.
BC015014 mRNA. Translation: AAH15014.1.
BC029350 mRNA. Translation: AAH29350.1.
CCDSiCCDS58073.1. [Q9NP72-3]
CCDS7155.1. [Q9NP72-1]
CCDS73081.1. [Q9NP72-2]
RefSeqiNP_001243339.1. NM_001256410.1. [Q9NP72-2]
NP_001243340.1. NM_001256411.1.
NP_001243341.1. NM_001256412.1. [Q9NP72-3]
NP_001243344.1. NM_001256415.1.
NP_067075.1. NM_021252.4. [Q9NP72-1]
UniGeneiHs.406799.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X3SX-ray1.32A1-182[»]
ProteinModelPortaliQ9NP72.
SMRiQ9NP72.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116591. 22 interactors.
DIPiDIP-60514N.
IntActiQ9NP72. 23 interactors.
MINTiMINT-5003598.
STRINGi9606.ENSP00000349415.

PTM databases

iPTMnetiQ9NP72.
PhosphoSitePlusiQ9NP72.
SwissPalmiQ9NP72.

Polymorphism and mutation databases

BioMutaiRAB18.
DMDMi12230528.

Proteomic databases

EPDiQ9NP72.
MaxQBiQ9NP72.
PaxDbiQ9NP72.
PeptideAtlasiQ9NP72.
PRIDEiQ9NP72.

Protocols and materials databases

DNASUi22931.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356940; ENSP00000349415; ENSG00000099246. [Q9NP72-1]
ENST00000535776; ENSP00000439321; ENSG00000099246. [Q9NP72-3]
ENST00000621805; ENSP00000478479; ENSG00000099246. [Q9NP72-2]
GeneIDi22931.
KEGGihsa:22931.
UCSCiuc001itv.5. human. [Q9NP72-1]

Organism-specific databases

CTDi22931.
DisGeNETi22931.
GeneCardsiRAB18.
HGNCiHGNC:14244. RAB18.
HPAiHPA025928.
MalaCardsiRAB18.
MIMi602207. gene.
614222. phenotype.
neXtProtiNX_Q9NP72.
OpenTargetsiENSG00000099246.
Orphaneti2510. Micro syndrome.
PharmGKBiPA34106.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0080. Eukaryota.
ENOG410XPD0. LUCA.
GeneTreeiENSGT00860000133677.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiQ9NP72.
KOiK07910.
OMAiRKIMETD.
PhylomeDBiQ9NP72.
TreeFamiTF313448.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099246-MONOMER.
ReactomeiR-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.

Miscellaneous databases

ChiTaRSiRAB18. human.
EvolutionaryTraceiQ9NP72.
GeneWikiiRAB18.
GenomeRNAii22931.
PROiQ9NP72.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099246.
CleanExiHS_RAB18.
ExpressionAtlasiQ9NP72. baseline and differential.
GenevisibleiQ9NP72. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR025662. Sigma_54_int_dom_ATP-bd_1.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRAB18_HUMAN
AccessioniPrimary (citable) accession number: Q9NP72
Secondary accession number(s): B3KMC7
, B7Z333, D3DRW1, Q53FX8, Q56UN9, Q6FIH1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 168 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.