SOX8
From Wikipedia, the free encyclopedia
SRY (sex determining region Y)-box 8
|
||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | SOX8; MGC24837 | |||||||||||||
External IDs | OMIM: 605923 MGI: 98370 HomoloGene: 7950 | |||||||||||||
|
||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 30812 | 20681 | ||||||||||||
Ensembl | ENSG00000005513 | ENSMUSG00000024176 | ||||||||||||
Uniprot | P57073 | Q543C3 | ||||||||||||
Refseq | NM_014587 (mRNA) NP_055402 (protein) |
NM_011447 (mRNA) NP_035577 (protein) |
||||||||||||
Location | Chr 16: 0.97 - 0.98 Mb | Chr 17: 25.29 - 25.3 Mb | ||||||||||||
Pubmed search | [1] | [2] |
SRY (sex determining region Y)-box 8, also known as SOX8, is a human gene.[1]
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome).[1]
[edit] See also
[edit] References
[edit] Further reading
- Pfeifer D, Poulat F, Holinski-Feder E, et al. (2000). "The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome.". Genomics 63 (1): 108–16. doi: . PMID 10662550.
- Schepers GE, Bullejos M, Hosking BM, Koopman P (2000). "Cloning and characterisation of the Sry-related transcription factor gene Sox8.". Nucleic Acids Res. 28 (6): 1473–80. PMID 10684944.
- Daniels RJ, Peden JF, Lloyd C, et al. (2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.". Hum. Mol. Genet. 10 (4): 339–52. PMID 11157797.
- Cheng YC, Lee CJ, Badge RM, et al. (2001). "Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours.". Brain Res. Mol. Brain Res. 92 (1-2): 193–200. PMID 11483257.
- 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. doi: . PMID 12477932.
- Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566–9. doi: . PMID 12665801.
- Schepers G, Wilson M, Wilhelm D, Koopman P (2003). "SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro.". J. Biol. Chem. 278 (30): 28101–8. doi: . PMID 12732652.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi: . PMID 14702039.
- 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: . PMID 15489334.
- Martin J, Han C, Gordon LA, et al. (2005). "The sequence and analysis of duplication-rich human chromosome 16.". Nature 432 (7020): 988–94. doi: . PMID 15616553.
- Wissmüller S, Kosian T, Wolf M, et al. (2006). "The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors.". Nucleic Acids Res. 34 (6): 1735–44. doi: . PMID 16582099.
|