Q9NP72 (RAB18_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ras-related protein Rab-18

Gene names

Name:

RAB18

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	206 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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. Ref.19
Subcellular location	Cell membrane; Lipid-anchor; Cytoplasmic side Potential.
Tissue specificity	Ubiquitous.
Involvement in 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. Ref.19
Sequence similarities	Belongs to the small GTPase superfamily. Rab family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Ligand	GTP-binding Nucleotide-binding
Molecular function	Developmental protein
PTM	Acetylation Lipoprotein Methylation Palmitate Phosphoprotein Prenylation
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	brain development Inferred from sequence or structural similarity. Source: UniProtKB endocytosis Non-traceable author statement. Source: UniProtKB eye development Inferred from sequence or structural similarity. Source: UniProtKB protein transport Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: InterPro small GTPase mediated signal transduction Non-traceable author statement Ref.2. Source: UniProtKB
Cellular component	intracellular Inferred from direct assay. Source: LIFEdb plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro GTP binding Inferred from electronic annotation. Source: UniProtKB-KW GTPase activity Non-traceable author statement Ref.2. Source: UniProtKB transcription factor binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 203

203

Ras-related protein Rab-18

PRO_0000121193

Propeptide

204 – 206

3

Removed in mature form Potential

PRO_0000370761

Regions

Nucleotide binding

15 – 23

9

GTP

Nucleotide binding

63 – 67

5

GTP

Nucleotide binding

122 – 125

4

GTP

Nucleotide binding

151 – 153

3

GTP

Motif

37 – 45

9

Effector region By similarity

Amino acid modifications

Modified residue

1

1

N-acetylmethionine Ref.14

Modified residue

29

1

Phosphothreonine Ref.15

Modified residue

138

1

N6-acetyllysine Ref.16

Modified residue

203

1

Cysteine methyl ester Potential

Lipidation

199

1

S-palmitoyl cysteine Potential

Lipidation

203

1

S-geranylgeranyl cysteine By similarity

Natural variations

Natural variant

24

1

L → Q in WARBM3. Ref.19

VAR_066495

Natural variant

93

1

Missing in WARBM3.

VAR_066496

Natural variant

113

1

N → S.
Corresponds to variant rs12268932 [ dbSNP | Ensembl ].

VAR_051713

Natural variant

198

1

A → T.
Corresponds to variant rs11015859 [ dbSNP | Ensembl ].

VAR_034432

Experimental info

Sequence conflict

61

1

I → L in BAD96873. Ref.10

Secondary structure

1

.

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206

Helix Strand Turn

Details...

Beta strand

5 – 14

10

Helix

21 – 30

10

Beta strand

42 – 52

11

Beta strand

55 – 64

10

Helix

68 – 70

3

Helix

74 – 78

5

Beta strand

83 – 89

7

Helix

93 – 97

5

Helix

99 – 106

8

Beta strand

116 – 122

7

Beta strand

126 – 128

3

Helix

133 – 142

10

Beta strand

146 – 149

4

Turn

152 – 154

3

Helix

158 – 170

13

Helix

173 – 175

3

Sequences

	Sequence		Length	Mass (Da)
	Q9NP72 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: D1B0F4866547DF77	FASTA	206	22,977
	10 20 30 40 50 60 MDEDVLTTLK ILIIGESGVG KSSLLLRFTD DTFDPELAAT IGVDFKVKTI SVDGNKAKLA 70 80 90 100 110 120 IWDTAGQERF RTLTPSYYRG AQGVILVYDV TRRDTFVKLD NWLNELETYC TRNDIVNMLV 130 140 150 160 170 180 GNKIDKENRE VDRNEGLKFA RKHSMLFIEA SAKTCDGVQC AFEELVEKII QTPGLWESEN 190 200 QNKGVKLSHR EEGQGGGACG GYCSVL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"In silico cloning of the human Rab18 gene." Chikri M.M., Boutin M.P., Vaxillaire M.M., Froguel M.P. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine." Schaefer U., Seibold S., Schneider A., Neugebauer E. FEBS Lett. 466:148-154(2000) [PubMed: 10648831] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"Cloning and expression of a novel human cDNA homologous to murine ras-related protein (rab18) mRNA." Cui W.C., Yu L., Liu Q., Lin W., Han X.F., Zhao S.Y. Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)." Puhl H.L. III, Ikeda S.R., Aronstam R.S. Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[5]	"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L. Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed: 10931946] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Adrenal gland.
[6]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[7]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[9]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[10]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung.
[11]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[12]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[13]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Hippocampus and Skin.
[14]	Bienvenut W.V., Waridel P., Quadroni M. Submitted (MAR-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 1-21; 59-69 AND 99-123, ACETYLATION AT MET-1, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[15]	"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-29, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[16]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-138, MASS SPECTROMETRY.
[17]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[18]	"Crystal structure of human RAB18 in complex with GPPNHP." RIKEN structural genomics initiative (RSGI) Submitted (FEB-2009) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (1.32 ANGSTROMS) OF 1-184 IN COMPLEX WITH GTP ANALOG.
[19]	"Loss-of-function mutations in RAB18 cause Warburg micro syndrome." Bem D., Yoshimura S., Nunes-Bastos R., Bond F.C., Kurian M.A., Rahman F., Handley M.T., Hadzhiev Y., Masood I., Straatman-Iwanowska A.A., Cullinane A.R., McNeill A., Pasha S.S., Kirby G.A., Foster K., Ahmed Z., Morton J.E., Williams D. , Graham J.M., Dobyns W.B., Burglen L., Ainsworth J.R., Gissen P., Muller F., Maher E.R., Barr F.A., Aligianis I.A. Am. J. Hum. Genet. 88:499-507(2011) [PubMed: 21473985] [Abstract] Cited for: VARIANTS WARBM3 GLN-24 AND ARG-93 DEL, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AJ277145 , AJ277146, AJ277147, AJ277148, AJ277149 Genomic DNA. Translation: CAB86486.1.
AF137372 mRNA. Translation: AAF61433.1.
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.
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.

IPI

IPI00014577.

RefSeq

NP_067075.1. NM_021252.3.

UniGene

Hs.406799.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1X3S	X-ray	1.32	A	1-184	[»]

ProteinModelPortal

Q9NP72.

SMR

Q9NP72. Positions 2-178.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NP72. 4 interactions.

STRING

Q9NP72.

PTM databases

PhosphoSite

Q9NP72.

Polymorphism databases

DMDM

12230528.

Proteomic databases

PRIDE

Q9NP72.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000356940; ENSP00000349415; ENSG00000099246.

GeneID

22931.

KEGG

hsa:22931.

UCSC

uc001itv.1. human.

Organism-specific databases

CTD

22931.

GeneCards

GC10P027833.

H-InvDB

HIX0008729.

HGNC

HGNC:14244. RAB18.

HPA

HPA025928.

MIM

602207. gene.
614222. phenotype.

neXtProt

NX_Q9NP72.

Orphanet

2510. Micro syndrome.

PharmGKB

PA34106.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG10521.

GeneTree

ENSGT00550000074219.

HOVERGEN

HBG009351.

OMA

VNVEQCF.

OrthoDB

EOG4VT5Z6.

PhylomeDB

Q9NP72.

Gene expression databases

ArrayExpress

Q9NP72.

Bgee

Q9NP72.

CleanEx

HS_RAB18.

Genevestigator

Q9NP72.

GermOnline

ENSG00000099246. Homo sapiens.

Family and domain databases

InterPro

IPR002078. RNA_pol_sigma_54_int.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view]

KO

K07910.

Pfam

PF00071. Ras. 1 hit.
[Graphical view]

PRINTS

PR00449. RASTRNSFRMNG.

SMART

SM00175. RAB. 1 hit.
[Graphical view]

TIGRFAMs

TIGR00231. Small_GTP. 1 hit.

PROSITE

PS51419. RAB. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

43659.

SOURCE

Search...

Entry information

Entry name

RAB18_HUMAN

Accession

Primary (citable) accession number: Q9NP72
Secondary accession number(s): B3KMC7 , D3DRW1, Q53FX8, Q6FIH1

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	October 1, 2000
Last modified:	January 25, 2012
This is version 116 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.