RAB23

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RAB23, member RAS oncogene family

PDB rendering based on 1z22.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols RAB23 ; HSPC137
External IDs OMIM606144 MGI99833 HomoloGene7503 GeneCards: RAB23 Gene
RNA expression pattern
PBB GE RAB23 220955 x at tn.png
PBB GE RAB23 gnf1h04552 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51715 19335
Ensembl ENSG00000112210 ENSMUSG00000004768
UniProt Q9ULC3 Q9D4I9
RefSeq (mRNA) NM_016277 NM_001159729
RefSeq (protein) NP_057361 NP_001153201
Location (UCSC) Chr 6:
57.05 – 57.09 Mb
Chr 1:
33.72 – 33.74 Mb
PubMed search [1] [2]

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[edit]

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[edit]

  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. ^ 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. 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. PMID 14612978. 
  4. ^ a b "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[edit]