Protein-coding gene in the species Homo sapiens
| RAB23 |
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| Identifiers |
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| Aliases | RAB23, HSPC137, member RAS oncogene family |
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| External IDs | OMIM: 606144 MGI: 99833 HomoloGene: 7503 GeneCards: RAB23 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 6 (human)[1] |
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| | Band | 6p12.1-p11.2 | Start | 57,186,992 bp[1] |
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| End | 57,222,307 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 1 (mouse)[2] |
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| | Band | 1 B|1 12.8 cM | Start | 33,758,968 bp[2] |
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| End | 33,781,645 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - saphenous vein
- secondary oocyte
- seminal vesicula
- Achilles tendon
- urethra
- myometrium
- visceral pleura
- popliteal artery
- stromal cell of endometrium
- urinary bladder
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| | Top expressed in | - ovarian follicle
- ovarian follicle
- secondary oocyte
- molar
- corpus luteum
- ascending aorta
- renal corpuscle
- spermatocyte
- proximal tubule
- vas deferens
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| | More reference expression data |
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| BioGPS | 
 | | More reference expression data |
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| Gene ontology |
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| Molecular function | - nucleotide binding
- GTP binding
- protein binding
- GTPase activity
| | Cellular component | - cytoplasm
- endosome
- phagocytic vesicle membrane
- membrane
- plasma membrane
- autophagosome
- phagocytic vesicle
- endosome membrane
- cytoplasmic vesicle
- centrosome
- cytosol
- cell junction
| | Biological process | - craniofacial 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 transduction
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_001278666
NM_001278667
NM_001278668
NM_016277
NM_183227 |
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| RefSeq (protein) | |
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NP_001265595
NP_001265596
NP_001265597
NP_057361
NP_899050 |
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| Location (UCSC) | Chr 6: 57.19 – 57.22 Mb | Chr 1: 33.76 – 33.78 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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]
Function
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]
References
- ^ 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, 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.
- ^ a b "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. PMC 22659. PMID 9636176.
Further reading
- 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. 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.
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1z22: GDP-Bound Rab23 GTPase crystallized in C222(1) space group
1z2a: GDP-Bound Rab23 GTPase crystallized in P2(1)2(1)2(1) space group
