RAB23: Difference between revisions

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{{Infobox_gene}}
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'''Ras-related protein Rab-23''' is a [[protein]] that in humans is encoded by the ''RAB23'' [[gene]].<ref name="pmid11042152">{{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 = }}</ref><ref name="pmid11449277"/><ref name="pmid14612978">{{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 = }}</ref> Alternative splicing occurs at this gene locus and two transcript variants encoding the same protein have been identified.<ref name="entrez">{{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 = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
RAB23 belongs to the small [[GTPase]] superfamily, [[Rab (G-protein)|Rab]] family. It may be involved in small GTPase mediated signal transduction and intracellular protein transportation.<ref name="entrez"/>
{{GNF_Protein_box
| image = PBB_Protein_RAB23_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1z22.
| PDB = {{PDB2|1z22}}, {{PDB2|1z2a}}
| Name = RAB23, member RAS oncogene family
| HGNCid = 14263
| Symbol = RAB23
| AltSymbols =; DKFZp781H0695; HSPC137; MGC8900
| OMIM = 606144
| ECnumber = 
| Homologene = 7503
| MGIid = 99833
| GeneAtlas_image1 = PBB_GE_RAB23_220955_x_at_tn.png
| GeneAtlas_image2 = PBB_GE_RAB23_gnf1h04552_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007264 |text = small GTPase mediated signal transduction}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0009953 |text = dorsal/ventral pattern formation}} {{GNF_GO|id=GO:0015031 |text = protein transport}} {{GNF_GO|id=GO:0042733 |text = embryonic digit morphogenesis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 51715
    | Hs_Ensembl = ENSG00000112210
    | Hs_RefseqProtein = NP_057361
    | Hs_RefseqmRNA = NM_016277
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 57161567
    | Hs_GenLoc_end = 57195039
    | Hs_Uniprot = Q9ULC3
    | Mm_EntrezGene = 19335
    | Mm_Ensembl = ENSMUSG00000004768
    | Mm_RefseqmRNA = NM_008999
    | Mm_RefseqProtein = NP_033025
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 1
    | Mm_GenLoc_start = 33664442
    | Mm_GenLoc_end = 33686043
    | Mm_Uniprot = Q0PD32
  }}
}}
'''RAB23, member RAS oncogene family''', also known as '''RAB23''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RAB23 RAB23, member RAS oncogene family| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51715| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
RAB23 is an essential negative regulator of the [[Sonic hedgehog]] signaling pathway.<ref name="pmid11449277">{{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 = }}</ref>  The first understanding of biological processes requiring the Rab23 gene came from 2 independent  mouse mutations in the gene <ref name="pmid7720556">{{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 = }}</ref><ref name="pmid9636176">{{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 = }}</ref> and an [[epistasis]] analysis with mutations in the mouse shh gene.<ref name="pmid11449277"/> 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 [[regional specification|patterning]]: opb is required for [[dorsum (biology)|dorsal]] cell types and Shh is required for [[Anatomical terms of location#Dorsal and ventral|ventral]] cell types in the spinal cord.<ref name="pmid11449277"/>
{{PBB_Summary
| section_title =  
| summary_text = The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It may be involved in small GTPase mediated signal transduction and intracellular protein transportation. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.<ref name="entrez">{{cite web | title = Entrez Gene: RAB23 RAB23, member RAS oncogene family| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51715| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Zhang QH, Ye M, Wu XY, ''et al.'' |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 |year= 2001 |pmid= 11042152 |doi=  }}
*{{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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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 | author=Imabayashi H, Mori T, Gojo S, ''et al.'' |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=  }}
*{{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 | author=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |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 | author=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 |year= 2004 |pmid= 14612978 |doi=  }}
*{{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  | author=Evans TM, Ferguson C, Wainwright BJ, ''et al.'' |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=  }}
*{{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 | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{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 }}
*{{cite journal | author=Liu YJ, Wang Q, Li W, ''et al.'' |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=  }}
*{{cite journal | author=Jenkins D, Seelow D, Jehee FS, ''et al.'' |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 }}
}}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=51715}}
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{{Acid anhydride hydrolases}}


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Latest revision as of 08:45, 10 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Ras-related protein Rab-23 is a protein that in humans is encoded by the RAB23 gene.[1][2][3] Alternative splicing occurs at this gene locus and two transcript variants encoding the same protein have been identified.[4]

Function

RAB23 belongs to the small GTPase superfamily, Rab family. It may be involved in small GTPase mediated signal transduction and intracellular protein transportation.[4]

RAB23 is an essential negative regulator of the Sonic hedgehog signaling pathway.[2] 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.[2] 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.[2]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 2.2 2.3 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. doi:10.1038/35084089. PMID 11449277.
  3. ↑ 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.
  4. ↑ 4.0 4.1 "Entrez Gene: RAB23 RAB23, member RAS oncogene family".
  5. ↑ 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. PMID 7720556.
  6. ↑ 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. doi:10.1073/pnas.95.13.7485. PMC 22659. PMID 9636176.

Further reading



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