Ras-related protein Rab-23 is a protein that in humans is encoded by the RAB23gene.[5][6][7] Alternative splicing occurs at this gene locus and two transcript variants encoding the same protein have been identified.[8]
RAB23 belongs to the small GTPase superfamily, Rab family. It may be involved in small GTPase mediated signal transduction and intracellular protein transportation.[8]
RAB23 is an essential negative regulator of the Sonic hedgehog signaling pathway.[6] The first understanding of biological processes requiring the Rab23 gene came from 2 independent mouse mutations in the gene [9][10] and an epistasis analysis with mutations in the mouse shh gene.[6] These studies showed that the gene is required for normal development of the brain and spinal cord and that the morphological defects seen in mutant embryos, such as failure to close dorsal regions of the neural tube during development, appeared secondary to expansion of ventral and reduction of dorsal identities in the developing neural tube. These same mutations implicated the RAB23 gene in development of digits and eyes. The mouse open brain (opb) and Sonic hedgehog (Shh) genes have opposing roles in neural patterning: opb is required for dorsal cell types and Shh is required for ventral cell types in the spinal cord.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000112210 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000004768 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (October 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC310934. PMID 11042152.
^ abcdEggenschwiler JT, Espinoza E, Anderson KV (July 2001). "Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway". Nature. 412 (6843): 194–8. Bibcode:2001Natur.412..194E. doi:10.1038/35084089. PMID 11449277. S2CID 8151368.
^Marcos I, Borrego S, Antiñolo G (December 2003). "Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases". Int. J. Mol. Med. 12 (6): 983–7. doi:10.3892/ijmm.12.6.983. PMID 14612978.
^ ab"Entrez Gene: RAB23 RAB23, member RAS oncogene family".
^Günther T, Struwe M, Aguzzi A, Schughart K (November 1994). "Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord". Development. 120 (11): 3119–30. doi:10.1242/dev.120.11.3119. PMID 7720556.
^Kasarskis A, Manova K, Anderson KV (June 1998). "A phenotype-based screen for embryonic lethal mutations in the mouse". Proc. Natl. Acad. Sci. U.S.A. 95 (13): 7485–90. Bibcode:1998PNAS...95.7485K. doi:10.1073/pnas.95.13.7485. PMC22659. PMID 9636176.
Further readingedit
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Imabayashi H, Mori T, Gojo S, et al. (2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Exp. Cell Res. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
Evans TM, Ferguson C, Wainwright BJ, et al. (2004). "Rab23, a negative regulator of hedgehog signaling, localizes to the plasma membrane and the endocytic pathway". Traffic. 4 (12): 869–84. doi:10.1046/j.1600-0854.2003.00141.x. PMID 14617350. S2CID 21636234.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
Liu YJ, Wang Q, Li W, et al. (2007). "Rab23 is a potential biological target for treating hepatocellular carcinoma". World J. Gastroenterol. 13 (7): 1010–7. doi:10.3748/wjg.v13.i7.1010. PMC4146862. PMID 17373734.
Jenkins D, Seelow D, Jehee FS, et al. (2007). "RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity". Am. J. Hum. Genet. 80 (6): 1162–70. doi:10.1086/518047. PMC1867103. PMID 17503333.
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.
rab23, related, protein, protein, that, humans, encoded, gene, alternative, splicing, occurs, this, gene, locus, transcript, variants, encoding, same, protein, have, been, identified, identifiersaliases, hspc137, member, oncogene, familyexternal, idsomim, 6061. Ras related protein Rab 23 is a protein that in humans is encoded by the RAB23 gene 5 6 7 Alternative splicing occurs at this gene locus and two transcript variants encoding the same protein have been identified 8 RAB23IdentifiersAliasesRAB23 HSPC137 member RAS oncogene familyExternal IDsOMIM 606144 MGI 99833 HomoloGene 7503 GeneCards RAB23Gene location Human Chr Chromosome 6 human 1 Band6p12 1 p11 2Start57 186 992 bp 1 End57 222 307 bp 1 Gene location Mouse Chr Chromosome 1 mouse 2 Band1 B 1 12 8 cMStart33 758 968 bp 2 End33 781 645 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insaphenous veinsecondary oocyteseminal vesiculaAchilles tendonurethramyometriumvisceral pleurapopliteal arterystromal cell of endometriumurinary bladderTop expressed inovarian follicleovarian folliclesecondary oocytemolarcorpus luteumascending aortarenal corpusclespermatocyteproximal tubulevas deferensMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionnucleotide binding GTP binding protein binding GTPase activityCellular componentcytoplasm endosome phagocytic vesicle membrane membrane plasma membrane autophagosome phagocytic vesicle endosome membrane cytoplasmic vesicle centrosome cytosol cell junctionBiological processcraniofacial suture morphogenesis autophagosome assembly multicellular organism development cellular defense response protein transport cilium assembly GTP metabolic process negative regulation of protein import into nucleus intracellular protein transport Rab protein signal transduction signal transductionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5171519335EnsemblENSG00000112210ENSMUSG00000004768UniProtQ9ULC3P35288RefSeq mRNA NM 001278666NM 001278667NM 001278668NM 016277NM 183227NM 001159729NM 008999RefSeq protein NP 001265595NP 001265596NP 001265597NP 057361NP 899050n aLocation UCSC Chr 6 57 19 57 22 MbChr 1 33 76 33 78 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editRAB23 belongs to the small GTPase superfamily Rab family It may be involved in small GTPase mediated signal transduction and intracellular protein transportation 8 RAB23 is an essential negative regulator of the Sonic hedgehog signaling pathway 6 The first understanding of biological processes requiring the Rab23 gene came from 2 independent mouse mutations in the gene 9 10 and an epistasis analysis with mutations in the mouse shh gene 6 These studies showed that the gene is required for normal development of the brain and spinal cord and that the morphological defects seen in mutant embryos such as failure to close dorsal regions of the neural tube during development appeared secondary to expansion of ventral and reduction of dorsal identities in the developing neural tube These same mutations implicated the RAB23 gene in development of digits and eyes The mouse open brain opb and Sonic hedgehog Shh genes have opposing roles in neural patterning opb is required for dorsal cell types and Shh is required for ventral cell types in the spinal cord 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000112210 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000004768 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Zhang QH Ye M Wu XY Ren SX Zhao M Zhao CJ Fu G Shen Y Fan HY Lu G Zhong M Xu XR Han ZG Zhang JW Tao J Huang QH Zhou J Hu GX Gu J Chen SJ Chen Z October 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34 hematopoietic stem progenitor cells Genome Res 10 10 1546 60 doi 10 1101 gr 140200 PMC 310934 PMID 11042152 a b c d Eggenschwiler JT Espinoza E Anderson KV July 2001 Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway Nature 412 6843 194 8 Bibcode 2001Natur 412 194E doi 10 1038 35084089 PMID 11449277 S2CID 8151368 Marcos I Borrego S Antinolo G December 2003 Molecular cloning and characterization of human RAB23 a member of the group of Rab GTPases Int J Mol Med 12 6 983 7 doi 10 3892 ijmm 12 6 983 PMID 14612978 a b Entrez Gene RAB23 RAB23 member RAS oncogene family Gunther T Struwe M Aguzzi A Schughart K November 1994 Open brain a new mouse mutant with severe neural tube defects shows altered gene expression patterns in the developing spinal cord Development 120 11 3119 30 doi 10 1242 dev 120 11 3119 PMID 7720556 Kasarskis A Manova K Anderson KV June 1998 A phenotype based screen for embryonic lethal mutations in the mouse Proc Natl Acad Sci U S A 95 13 7485 90 Bibcode 1998PNAS 95 7485K doi 10 1073 pnas 95 13 7485 PMC 22659 PMID 9636176 Further reading editStrausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Imabayashi H Mori T Gojo S et al 2003 Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large scale cDNA analysis Exp Cell Res 288 1 35 50 doi 10 1016 S0014 4827 03 00130 7 PMID 12878157 Mungall AJ Palmer SA Sims SK et al 2003 The DNA sequence and analysis of human chromosome 6 Nature 425 6960 805 11 Bibcode 2003Natur 425 805M doi 10 1038 nature02055 PMID 14574404 Evans TM Ferguson C Wainwright BJ et al 2004 Rab23 a negative regulator of hedgehog signaling localizes to the plasma membrane and the endocytic pathway Traffic 4 12 869 84 doi 10 1046 j 1600 0854 2003 00141 x PMID 14617350 S2CID 21636234 Gerhard DS Wagner L Feingold EA et al 2004 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Liu YJ Wang Q Li W et al 2007 Rab23 is a potential biological target for treating hepatocellular carcinoma World J Gastroenterol 13 7 1010 7 doi 10 3748 wjg v13 i7 1010 PMC 4146862 PMID 17373734 Jenkins D Seelow D Jehee FS et al 2007 RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial suture development and obesity Am J Hum Genet 80 6 1162 70 doi 10 1086 518047 PMC 1867103 PMID 17503333 nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title RAB23 amp oldid 1174277881, wikipedia, wiki, book, books, library,
