SOX18: Difference between revisions
m (Robot: Automated text replacement (-{{reflist}} +{{reflist|2}}, -<references /> +{{reflist|2}}, -{{WikiDoc Cardiology Network Infobox}} +)) |
m (Bot: HTTP→HTTPS) |
||
Line 1: | Line 1: | ||
{{Infobox_gene}} | |||
{{ | '''Transcription factor SOX-18''' is a [[protein]] that in humans is encoded by the ''SOX18'' [[gene]].<ref name="pmid10807548">{{cite journal | vauthors = Azuma T, Seki N, Yoshikawa T, Saito T, Masuho Y, Muramatsu M | title = cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18 | journal = J. Hum. Genet. | volume = 45 | issue = 3 | pages = 192–5 | date = July 2000 | pmid = 10807548 | pmc = | doi = 10.1007/s100380050210 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SO X18 SRY (sex determining region Y)-box 18| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54345| accessdate = }}</ref> | ||
| | |||
| | |||
| | |||
| | |||
| | |||
}} | |||
== Function == | |||
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 regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of [[hypotrichosis]]-[[lymphedema]]-[[telangiectasia]].<ref name="entrez" /> | |||
==See also== | == Interactions == | ||
SOX18 has been shown to [[Protein-protein interaction|interact]] with [[MEF2C]].<ref name=pmid11554755>{{cite journal | vauthors = Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE | title = SOX18 directly interacts with MEF2C in endothelial cells | journal = Biochem. Biophys. Res. Commun. | volume = 287 | issue = 2 | pages = 493–500 | date = September 2001 | pmid = 11554755 | doi = 10.1006/bbrc.2001.5589 }}</ref> | |||
== See also == | |||
* [[SOX genes]] | * [[SOX genes]] | ||
==References== | == References == | ||
{{ | {{Reflist}} | ||
==Further reading== | == Further reading == | ||
{{ | {{Refbegin | 2}} | ||
* {{cite journal | vauthors = Wilson M, Koopman P | title = Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators | journal = Curr. Opin. Genet. Dev. | volume = 12 | issue = 4 | pages = 441–6 | year = 2002 | pmid = 12100890 | doi = 10.1016/S0959-437X(02)00323-4 }} | |||
* {{cite journal | vauthors = Schepers GE, Teasdale RD, Koopman P | title = Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families | journal = Dev. Cell | volume = 3 | issue = 2 | pages = 167–70 | year = 2002 | pmid = 12194848 | doi = 10.1016/S1534-5807(02)00223-X }} | |||
*{{cite journal | * {{cite journal | vauthors = Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A | title = A conserved family of genes related to the testis determining gene, SRY | journal = Nucleic Acids Res. | volume = 20 | issue = 11 | pages = 2887 | year = 1992 | pmid = 1614875 | pmc = 336939 | doi = 10.1093/nar/20.11.2887 }} | ||
*{{cite journal | * {{cite journal | vauthors = Dunn TL, Mynett-Johnson L, Wright EM, Hosking BM, Koopman PA, Muscat GE | title = Sequence and expression of Sox-18 encoding a new HMG-box transcription factor | journal = Gene | volume = 161 | issue = 2 | pages = 223–5 | year = 1995 | pmid = 7665083 | doi = 10.1016/0378-1119(95)00280-J }} | ||
*{{cite journal | * {{cite journal | vauthors = Stanojcić S, Stevanović M | title = The human SOX18 gene: cDNA cloning and high resolution mapping | journal = Biochim. Biophys. Acta | volume = 1492 | issue = 1 | pages = 237–41 | year = 2000 | pmid = 10858556 | doi = 10.1016/s0167-4781(00)00078-6 }} | ||
*{{cite journal | * {{cite journal | vauthors = Pennisi DJ, James KM, Hosking B, Muscat GE, Koopman P | title = Structure, mapping, and expression of human SOX18 | journal = Mamm. Genome | volume = 11 | issue = 12 | pages = 1147–9 | year = 2000 | pmid = 11130989 | doi = 10.1007/s003350010216 }} | ||
* {{cite journal | vauthors = Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE | title = SOX18 directly interacts with MEF2C in endothelial cells | journal = Biochem. Biophys. Res. Commun. | volume = 287 | issue = 2 | pages = 493–500 | year = 2001 | pmid = 11554755 | doi = 10.1006/bbrc.2001.5589 }} | |||
*{{cite journal | * {{cite journal | vauthors = Dintilhac A, Bernués J | title = HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences | journal = J. Biol. Chem. | volume = 277 | issue = 9 | pages = 7021–8 | year = 2002 | pmid = 11748221 | doi = 10.1074/jbc.M108417200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Saitoh T, Katoh M | title = Expression of human SOX18 in normal tissues and tumors | journal = Int. J. Mol. Med. | volume = 10 | issue = 3 | pages = 339–44 | year = 2002 | pmid = 12165811 | doi = 10.3892/ijmm.10.3.339 }} | ||
*{{cite journal | * {{cite journal | vauthors = Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M | title = Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia | journal = Am. J. Hum. Genet. | volume = 72 | issue = 6 | pages = 1470–8 | year = 2003 | pmid = 12740761 | pmc = 1180307 | doi = 10.1086/375614 }} | ||
*{{cite journal | * {{cite journal | vauthors = García-Ramírez M, Martínez-González J, Juan-Babot JO, Rodríguez C, Badimon L | title = Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth | journal = Arterioscler. Thromb. Vasc. Biol. | volume = 25 | issue = 11 | pages = 2398–403 | year = 2005 | pmid = 16179596 | doi = 10.1161/01.ATV.0000187464.81959.23 }} | ||
*{{cite journal | * {{cite journal | vauthors = Young N, Hahn CN, Poh A, Dong C, Wilhelm D, Olsson J, Muscat GE, Parsons P, Gamble JR, Koopman P | title = Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development | journal = J. Natl. Cancer Inst. | volume = 98 | issue = 15 | pages = 1060–7 | year = 2006 | pmid = 16882943 | doi = 10.1093/jnci/djj299 }} | ||
{{Refend}} | |||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{ | |||
== External links == | == External links == | ||
* {{MeshName|SOX18+protein,+human}} | * {{MeshName|SOX18+protein,+human}} | ||
{{NLM content}} | |||
{{Transcription factors|g4}} | |||
[[Category:Transcription factors]] | [[Category:Transcription factors]] | ||
{{ | |||
{{Gene-20-stub}} |
Latest revision as of 06:51, 11 September 2017
VALUE_ERROR (nil) | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Aliases | |||||||
External IDs | GeneCards: [1] | ||||||
Orthologs | |||||||
Species | Human | Mouse | |||||
Entrez |
|
| |||||
Ensembl |
|
| |||||
UniProt |
|
| |||||
RefSeq (mRNA) |
|
| |||||
RefSeq (protein) |
|
| |||||
Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
|
Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[1][2]
Function
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 regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.[2]
Interactions
SOX18 has been shown to interact with MEF2C.[3]
See also
References
- ↑ Azuma T, Seki N, Yoshikawa T, Saito T, Masuho Y, Muramatsu M (July 2000). "cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18". J. Hum. Genet. 45 (3): 192–5. doi:10.1007/s100380050210. PMID 10807548.
- ↑ 2.0 2.1 "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18".
- ↑ Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochem. Biophys. Res. Commun. 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID 11554755.
Further reading
- Wilson M, Koopman P (2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Curr. Opin. Genet. Dev. 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
- Schepers GE, Teasdale RD, Koopman P (2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Dev. Cell. 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
- Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Res. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC 336939. PMID 1614875.
- Dunn TL, Mynett-Johnson L, Wright EM, Hosking BM, Koopman PA, Muscat GE (1995). "Sequence and expression of Sox-18 encoding a new HMG-box transcription factor". Gene. 161 (2): 223–5. doi:10.1016/0378-1119(95)00280-J. PMID 7665083.
- Stanojcić S, Stevanović M (2000). "The human SOX18 gene: cDNA cloning and high resolution mapping". Biochim. Biophys. Acta. 1492 (1): 237–41. doi:10.1016/s0167-4781(00)00078-6. PMID 10858556.
- Pennisi DJ, James KM, Hosking B, Muscat GE, Koopman P (2000). "Structure, mapping, and expression of human SOX18". Mamm. Genome. 11 (12): 1147–9. doi:10.1007/s003350010216. PMID 11130989.
- Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochem. Biophys. Res. Commun. 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID 11554755.
- Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. doi:10.1074/jbc.M108417200. PMID 11748221.
- Saitoh T, Katoh M (2002). "Expression of human SOX18 in normal tissues and tumors". Int. J. Mol. Med. 10 (3): 339–44. doi:10.3892/ijmm.10.3.339. PMID 12165811.
- Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M (2003). "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia". Am. J. Hum. Genet. 72 (6): 1470–8. doi:10.1086/375614. PMC 1180307. PMID 12740761.
- García-Ramírez M, Martínez-González J, Juan-Babot JO, Rodríguez C, Badimon L (2005). "Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth". Arterioscler. Thromb. Vasc. Biol. 25 (11): 2398–403. doi:10.1161/01.ATV.0000187464.81959.23. PMID 16179596.
- Young N, Hahn CN, Poh A, Dong C, Wilhelm D, Olsson J, Muscat GE, Parsons P, Gamble JR, Koopman P (2006). "Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development". J. Natl. Cancer Inst. 98 (15): 1060–7. doi:10.1093/jnci/djj299. PMID 16882943.
External links
- SOX18+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it. |