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Protein

Ras-related protein Rab-18

Gene

RAB18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: GO_Central
  • GTP binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processProtein transport, Transport
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8873719 RAB geranylgeranylation
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

EuPathDBiHostDB:ENSG00000099246.16
HGNCiHGNC:14244 RAB18
MIMi602207 gene
neXtProtiNX_Q9NP72

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs387906832EnsemblClinVar.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
ProteomicsDBi81906
81907 [Q9NP72-2]

PTM databases

iPTMnetiQ9NP72
PhosphoSitePlusiQ9NP72
SwissPalmiQ9NP72

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000099246 Expressed in 202 organ(s), highest expression level in metanephros
CleanExiHS_RAB18
ExpressionAtlasiQ9NP72 baseline and differential
GenevisibleiQ9NP72 HS

Organism-specific databases

HPAiHPA025928

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi116591, 31 interactors
DIPiDIP-60514N
IntActiQ9NP72, 27 interactors
MINTiQ9NP72
STRINGi9606.ENSP00000349415

Structurei

Secondary structure

1206
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
GeneTreeiENSGT00900000140786
HOGENOMiHOG000233968
HOVERGENiHBG009351
InParanoidiQ9NP72
KOiK07910
OMAiMQSTVGM
PhylomeDBiQ9NP72
TreeFamiTF313448

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR025662 Sigma_54_int_dom_ATP-bd_1
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit

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

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X163A0A087X163_HUMAN
Ras-related protein Rab-18
RAB18
182Annotation score:
H0Y6T8H0Y6T8_HUMAN
Ras-related protein Rab-18
RAB18
291Annotation score:
Q5W0J0Q5W0J0_HUMAN
Ras-related protein Rab-18
RAB18
161Annotation score:

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 dbSNP:rs387906832EnsemblClinVar.1
Natural variantiVAR_06649693Missing in WARBM3. 1 Publication1
Natural variantiVAR_051713113N → S. Corresponds to variant dbSNP:rs12268932Ensembl.1
Natural variantiVAR_034432198A → T. Corresponds to variant dbSNP:rs11015859EnsemblClinVar.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 No translation available.
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

Similar proteinsi

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 No translation available.
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, 31 interactors
DIPiDIP-60514N
IntActiQ9NP72, 27 interactors
MINTiQ9NP72
STRINGi9606.ENSP00000349415

PTM databases

iPTMnetiQ9NP72
PhosphoSitePlusiQ9NP72
SwissPalmiQ9NP72

Polymorphism and mutation databases

BioMutaiRAB18
DMDMi12230528

Proteomic databases

EPDiQ9NP72
MaxQBiQ9NP72
PaxDbiQ9NP72
PeptideAtlasiQ9NP72
PRIDEiQ9NP72
ProteomicsDBi81906
81907 [Q9NP72-2]

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
EuPathDBiHostDB:ENSG00000099246.16
GeneCardsiRAB18
HGNCiHGNC:14244 RAB18
HPAiHPA025928
MalaCardsiRAB18
MIMi602207 gene
614222 phenotype
neXtProtiNX_Q9NP72
OpenTargetsiENSG00000099246
Orphaneti2510 Micro syndrome
PharmGKBiPA34106
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0080 Eukaryota
ENOG410XPD0 LUCA
GeneTreeiENSGT00900000140786
HOGENOMiHOG000233968
HOVERGENiHBG009351
InParanoidiQ9NP72
KOiK07910
OMAiMQSTVGM
PhylomeDBiQ9NP72
TreeFamiTF313448

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRSiRAB18 human
EvolutionaryTraceiQ9NP72
GeneWikiiRAB18
GenomeRNAii22931
PROiPR:Q9NP72
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099246 Expressed in 202 organ(s), highest expression level in metanephros
CleanExiHS_RAB18
ExpressionAtlasiQ9NP72 baseline and differential
GenevisibleiQ9NP72 HS

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR025662 Sigma_54_int_dom_ATP-bd_1
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRAB18_HUMAN
AccessioniPrimary (citable) accession number: Q9NP72
Secondary accession number(s): B3KMC7
, B7Z333, D3DRW1, Q53FX8, Q56UN9, Q6FIH1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: November 7, 2018
This is version 186 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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