Q9NP72 (RAB18_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 130.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Ras-related protein Rab-18 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| 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.18 |
| Subcellular location | Cell membrane; Lipid-anchor; Cytoplasmic side Potential. |
| Tissue specificity | Ubiquitous. |
| Involvement in disease | Warburg micro syndrome 3 (WARBM3) [MIM:614222]: 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. |
| Sequence similarities | Belongs to the small GTPase superfamily. Rab family. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NP72-1) 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. | ||||||
| Isoform 2 (identifier: Q9NP72-2) The sequence of this isoform differs from the canonical sequence as follows: 62-62: W → WVTLHQQTANFFLKSQIGNSPILKWAMWQY | ||||||
| Note: Highly expressed in testis. | ||||||
| Isoform 3 (identifier: Q9NP72-3) The sequence of this isoform differs from the canonical sequence as follows: 63-126: Missing. | ||||||
| Note: No experimental confirmation available. |
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.15 | ||||||||||||||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 62 | 1 | W → WVTLHQQTANFFLKSQIGNS PILKWAMWQY in isoform 2. | VSP_043912 | |||||||||||||||||||||||||||||||||||||
| Alternative sequence | 63 – 126 | 64 | Missing in isoform 3. | VSP_044883 | |||||||||||||||||||||||||||||||||||||
| Natural variant | 24 | 1 | L → Q in WARBM3. Ref.18 | VAR_066495 | |||||||||||||||||||||||||||||||||||||
| Natural variant | 93 | 1 | Missing in WARBM3. Ref.18 | 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.11 | ||||||||||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||||||||||
| 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
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References
| « Hide '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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Cloning and characterization of a novel splice variant of human Rab18 gene (RAB18)." Dou T., Ji C., Gu S., Chen F., Xu J., Ye X., Ying K., Xie Y., Mao Y. DNA Seq. 16:230-234(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING. |
| [4] | "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] (ISOFORM 1). |
| [5] | "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] (ISOFORM 1). Tissue: Brain. |
| [6] | "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. Chen J.-L.Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Adrenal gland. |
| [7] | "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. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis. |
| [8] | "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] (ISOFORM 1). |
| [9] | "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] (ISOFORM 1). |
| [10] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Corpus callosum. |
| [11] | 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] (ISOFORM 1). Tissue: Lung. |
| [12] | "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. Rogers J.Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [13] | 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. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [14] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Hippocampus and Skin. |
| [15] | 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. |
| [16] | "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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [17] | "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. |
| [18] | "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. Aligianis I.A.Am. J. Hum. Genet. 88:499-507(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS WARBM3 GLN-24 AND ARG-93 DEL, FUNCTION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AJ277145 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. | ||||||||||||
| IPI | IPI00014577. IPI00844361. IPI00922800. | ||||||||||||
| RefSeq | NP_001243339.1. NM_001256410.1. NP_001243340.1. NM_001256411.1. NP_001243341.1. NM_001256412.1. NP_001243344.1. NM_001256415.1. NP_067075.1. NM_021252.4. | ||||||||||||
| UniGene | Hs.406799. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q9NP72. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q9NP72. 6 interactions. | ||||||||||||
| STRING | 9606.ENSP00000349415. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q9NP72. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 12230528. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q9NP72. | ||||||||||||
| PRIDE | Q9NP72. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 22931. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000356940; ENSP00000349415; ENSG00000099246. ENST00000535776; ENSP00000439321; ENSG00000099246. | ||||||||||||
| GeneID | 22931. | ||||||||||||
| KEGG | hsa:22931. | ||||||||||||
| UCSC | uc001itv.3. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 22931. | ||||||||||||
| GeneCards | GC10P027793. | ||||||||||||
| 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 | COG1100. | ||||||||||||
| HOGENOM | HOG000233968. | ||||||||||||
| HOVERGEN | HBG009351. | ||||||||||||
| KO | K07910. | ||||||||||||
| OMA | LETYTTR. | ||||||||||||
| 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 | IPR025662. Sigma_54_int_dom_ATP-bd_1. IPR005225. Small_GTP-bd_dom. IPR001806. Small_GTPase. IPR003579. Small_GTPase_Rab_type. [Graphical view] | ||||||||||||
| 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 | |||||||||||||
| ChiTaRS | RAB18. human. | ||||||||||||
| EvolutionaryTrace | Q9NP72. | ||||||||||||
| GenomeRNAi | 22931. | ||||||||||||
| NextBio | 43659. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | RAB18_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NP72 Secondary accession number(s): B3KMC7 Q6FIH1 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
