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词条 RAB23
释义

  1. Function

  2. References

  3. Further reading

{{Infobox_gene}}Ras-related protein Rab-23 is a protein that in humans is encoded by the RAB23 gene.[1][2][2] Alternative splicing occurs at this gene locus and two transcript variants encoding the same protein have been identified.[3]

Function

RAB23 belongs to the small GTPase superfamily, Rab family. It may be involved in small GTPase mediated signal transduction and intracellular protein transportation.[3]

RAB23 is an essential negative regulator of the Sonic hedgehog signaling pathway.[4] The first understanding of biological processes requiring the Rab23 gene came from 2 independent mouse mutations in the gene [5][6] and an epistasis analysis with mutations in the mouse shh gene.[4] 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.[4]

References

1. ^{{cite journal | vauthors = 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 | title = Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells | journal = Genome Res. | volume = 10 | issue = 10 | pages = 1546–60 |date=October 2000 | pmid = 11042152 | pmc = 310934 | doi = 10.1101/gr.140200| url = | issn = }}
2. ^{{cite journal | vauthors = Marcos I, Borrego S, Antiñolo G | title = Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases | journal = Int. J. Mol. Med. | volume = 12 | issue = 6 | pages = 983–7 |date=December 2003 | pmid = 14612978 | doi = 10.3892/ijmm.12.6.983| url = | issn = }}
3. ^1 {{cite web | title = Entrez Gene: RAB23 RAB23, member RAS oncogene family| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51715| accessdate = }}
4. ^1 2 3 {{cite journal | vauthors = Eggenschwiler JT, Espinoza E, Anderson KV | title = Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway | journal = Nature | volume = 412 | issue = 6843 | pages = 194–8 |date=July 2001 | pmid = 11449277 | doi = 10.1038/35084089 | url = | issn = }}
5. ^{{cite journal | vauthors = Günther T, Struwe M, Aguzzi A, Schughart K | title = Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord | journal = Development | volume = 120 | issue = 11 | pages = 3119–30 |date=November 1994 | pmid = 7720556 | doi = | url = | issn = }}
6. ^{{cite journal | vauthors = Kasarskis A, Manova K, Anderson KV | title = A phenotype-based screen for embryonic lethal mutations in the mouse | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 95 | issue = 13 | pages = 7485–90 |date=June 1998 | pmid = 9636176 | pmc = 22659 | doi = 10.1073/pnas.95.13.7485| url = | issn = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
  • {{cite journal |vauthors=Imabayashi H, Mori T, Gojo S, etal |title=Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis. |journal=Exp. Cell Res. |volume=288 |issue= 1 |pages= 35–50 |year= 2003 |pmid= 12878157 |doi=10.1016/S0014-4827(03)00130-7 }}
  • {{cite journal |vauthors=Mungall AJ, Palmer SA, Sims SK, etal |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
  • {{cite journal |vauthors=Evans TM, Ferguson C, Wainwright BJ, etal |title=Rab23, a negative regulator of hedgehog signaling, localizes to the plasma membrane and the endocytic pathway. |journal=Traffic |volume=4 |issue= 12 |pages= 869–84 |year= 2004 |pmid= 14617350 |doi=10.1046/j.1600-0854.2003.00141.x }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{cite journal |vauthors=Liu YJ, Wang Q, Li W, etal |title=Rab23 is a potential biological target for treating hepatocellular carcinoma. |journal=World J. Gastroenterol. |volume=13 |issue= 7 |pages= 1010–7 |year= 2007 |pmid= 17373734 |doi= 10.3748/wjg.v13.i7.1010}}
  • {{cite journal |vauthors=Jenkins D, Seelow D, Jehee FS, etal |title=RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. |journal=Am. J. Hum. Genet. |volume=80 |issue= 6 |pages= 1162–70 |year= 2007 |pmid= 17503333 |doi= 10.1086/518047 | pmc=1867103 }}
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