Q9ULC3 (RAB23_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 127.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Ras-related protein Rab-23 | ||||
| Gene names |
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| 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 | 237 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 | The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes. Ref.14 Ref.15 |
| Subunit structure | Interacts with SUFU. Ref.15 |
| Subcellular location | Cell membrane; Lipid-anchor; Cytoplasmic side By similarity. Cell membrane. Cytoplasm. Cytoplasmic vesicle › autophagosome. Endosome membrane By similarity. Cytoplasmic vesicle › phagosome. Cytoplasmic vesicle › phagosome membrane; Lipid-anchor; Cytoplasmic side By similarity. Note: Recruited to phagosomes containing S.aureus or M.tuberculosis. Ref.13 Ref.15 |
| Involvement in disease | Carpenter syndrome 1 (CRPT1) [MIM:201000]: A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. |
| Sequence similarities | Belongs to the small GTPase superfamily. Rab family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 234 | 234 | Ras-related protein Rab-23 | PRO_0000121211 | |||||
| Propeptide | 235 – 237 | 3 | Removed in mature form Potential | PRO_0000370771 | |||||
Regions | |||||||||
| Nucleotide binding | 16 – 23 | 8 | GTP By similarity | ||||||
| Nucleotide binding | 64 – 68 | 5 | GTP By similarity | ||||||
| Nucleotide binding | 121 – 124 | 4 | GTP By similarity | ||||||
| Motif | 38 – 46 | 9 | Effector region By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 234 | 1 | Cysteine methyl ester Potential | ||||||
| Lipidation | 234 | 1 | S-geranylgeranyl cysteine By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 12 | 1 | M → K in CRPT1. Ref.17 | VAR_065294 | |||||
| Natural variant | 13 | 1 | Missing. Ref.16 | VAR_034900 | |||||
| Natural variant | 40 | 1 | K → R. Ref.16 Corresponds to variant rs45442500 [ dbSNP | Ensembl ]. | VAR_034901 | |||||
| Natural variant | 79 | 1 | Missing in CRPT1. Ref.17 | VAR_065295 | |||||
| Natural variant | 85 | 1 | C → R in CRPT1. Ref.16 | VAR_034902 | |||||
| Natural variant | 101 | 1 | S → A. Ref.16 Corresponds to variant rs45479896 [ dbSNP | Ensembl ]. | VAR_034903 | |||||
| Natural variant | 207 | 1 | G → S. Ref.4 Ref.5 Corresponds to variant rs1040461 [ dbSNP | Ensembl ]. | VAR_017159 | |||||
Experimental info | |||||||||
| Sequence conflict | 95 | 1 | E → G in AAF29101. Ref.3 | ||||||
| Sequence conflict | 144 | 1 | K → R in AAF29101. Ref.3 | ||||||
| Sequence conflict | 225 | 1 | K → N in AAF29101. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human mRNA for RAB23 protein." Seki N., Yoshikawa T., Azuma T., Saito T., Muramatsu M. Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal brain. |
| [2] | "Expression of RAB-23 in human hair follicle." Ikeda A., Yamashita M. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Hair follicle. |
| [3] | "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. Chen Z.Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Umbilical cord blood. |
| [4] | "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], VARIANT SER-207. |
| [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 (MAR-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-207. Tissue: Brain. |
| [6] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon carcinoma. |
| [7] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "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]. Tissue: Uterus. |
| [10] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [11] | "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]. |
| [12] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [13] | "Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes." Seto S., Tsujimura K., Koide Y. Traffic 12:407-420(2011) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [14] | "The small GTPases Rab9A and Rab23 function at distinct steps in autophagy during group A Streptococcus infection." Nozawa T., Aikawa C., Goda A., Maruyama F., Hamada S., Nakagawa I. Cell. Microbiol. 14:1149-1165(2012) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [15] | "Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner." Chi S., Xie G., Liu H., Chen K., Zhang X., Li C., Xie J. Cell. Signal. 24:1222-1228(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SUFU, FUNCTION, GTPASE ACTIVITY, SUBCELLULAR LOCATION. |
| [16] | "RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity." Jenkins D., Seelow D., Jehee F.S., Perlyn C.A., Alonso L.G., Bueno D.F., Donnai D., Josifiova D., Mathijssen I.M.J., Morton J.E.V., Orstavik K.H., Sweeney E., Wall S.A., Marsh J.L., Nuernberg P., Passos-Bueno M.R., Wilkie A.O.M. Am. J. Hum. Genet. 80:1162-1170(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS VAL-13 DEL; ARG-40 AND ALA-101, VARIANT CRPT1 ARG-85. |
| [17] | "Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay." Jenkins D., Baynam G., De Catte L., Elcioglu N., Gabbett M.T., Hudgins L., Hurst J.A., Jehee F.S., Oley C., Wilkie A.O. Hum. Mutat. 32:E2069-E2078(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CRPT1 LYS-12 AND TYR-79 DEL. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB034244 mRNA. Translation: BAA87324.1. AB025427 mRNA. Translation: BAB40309.1. AF161486 mRNA. Translation: AAF29101.1. AF498951 mRNA. Translation: AAM21099.1. AK313796 mRNA. Translation: BAG36532.1. AY585189 mRNA. Translation: AAT79492.1. CR749371 mRNA. Translation: CAH18224.1. AL031321 Genomic DNA. Translation: CAI21564.1. CH471081 Genomic DNA. Translation: EAX04476.1. BC015021 mRNA. Translation: AAH15021.1. |
| IPI | IPI00008034. |
| RefSeq | NP_057361.3. NM_016277.3. NP_899050.1. NM_183227.1. |
| UniGene | Hs.555016. |
3D structure databases | |
| ProteinModelPortal | Q9ULC3. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9ULC3. 1 interaction. |
| MINT | MINT-6783510. |
| STRING | 9606.ENSP00000320413. |
PTM databases | |
| PhosphoSite | Q9ULC3. |
Polymorphism databases | |
| DMDM | 12643897. |
Proteomic databases | |
| PaxDb | Q9ULC3. |
| PRIDE | Q9ULC3. |
Protocols and materials databases | |
| DNASU | 51715. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000317483; ENSP00000320413; ENSG00000112210. ENST00000468148; ENSP00000417610; ENSG00000112210. |
| GeneID | 51715. |
| KEGG | hsa:51715. |
| UCSC | uc003pds.3. human. |
Organism-specific databases | |
| CTD | 51715. |
| GeneCards | GC06M057100. |
| HGNC | HGNC:14263. RAB23. |
| HPA | HPA029135. HPA029136. |
| MIM | 201000. phenotype. 606144. gene. |
| neXtProt | NX_Q9ULC3. |
| Orphanet | 65759. Carpenter syndrome. |
| PharmGKB | PA34113. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG1100. |
| HOGENOM | HOG000233968. |
| HOVERGEN | HBG100144. |
| InParanoid | Q9ULC3. |
| KO | K06234. |
| OMA | VTEVFKY. |
| OrthoDB | EOG4P2Q33. |
| PhylomeDB | Q9ULC3. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | hedgehog_glipathway. Hedgehog signaling events mediated by Gli proteins. |
| SignaLink | Q9ULC3. |
Gene expression databases | |
| Bgee | Q9ULC3. |
| CleanEx | HS_RAB23. |
| Genevestigator | Q9ULC3. |
| GermOnline | ENSG00000112210. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR027417. P-loop_NTPase. 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] |
| SUPFAM | SSF52540. SSF52540. 1 hit. |
| TIGRFAMs | TIGR00231. small_GTP. 1 hit. |
| PROSITE | PS51419. RAB. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 51715. |
| NextBio | 55759. |
| SOURCE | Search... |
Entry information
| Entry name | RAB23_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9ULC3 Secondary accession number(s): B2R9I5 Q9P023 | ||||||||
| 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 6 Human chromosome 6: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
