SOX18: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''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>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = SRY (sex determining region Y)-box 18
| HGNCid = 11194
| Symbol = SOX18
| AltSymbols =; HLTS
| OMIM = 601618
| ECnumber = 
| Homologene = 7546
| MGIid = 103559
| GeneAtlas_image1 = PBB_GE_SOX18_219568_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003702 |text = RNA polymerase II transcription factor activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 54345
    | Hs_Ensembl = ENSG00000203883
    | Hs_RefseqProtein = NP_060889
    | Hs_RefseqmRNA = NM_018419
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 62149520
    | Hs_GenLoc_end = 62151438
    | Hs_Uniprot = P35713
    | Mm_EntrezGene = 20672
    | Mm_Ensembl = ENSMUSG00000046470
    | Mm_RefseqmRNA = NM_009236
    | Mm_RefseqProtein = NP_033262
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 181599251
    | Mm_GenLoc_end = 181601044
    | Mm_Uniprot = Q3UND6
  }}
}}
'''SRY (sex determining region Y)-box 18''', also known as '''SOX18''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SOX18 SRY (sex determining region Y)-box 18| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54345| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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" />
{{PBB_Summary
| section_title =
| summary_text = 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">{{cite web | title = Entrez Gene: SOX18 SRY (sex determining region Y)-box 18| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54345| accessdate = }}</ref>
}}


==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|2}}
{{Reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading
* {{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 }}
| citations =
* {{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 | author=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= 2003 |pmid= 12100890 |doi= }}
* {{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 | author=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= }}
* {{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 | author=Denny P, Swift S, Brand N, ''et al.'' |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 |doi= }}
* {{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 | author=Dunn TL, Mynett-Johnson L, Wright EM, ''et al.'' |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= }}
* {{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  | author=Azuma T, Seki N, Yoshikawa T, ''et al.'' |title=cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18. |journal=J. Hum. Genet. |volume=45 |issue= 3 |pages= 192-5 |year= 2000 |pmid= 10807548 |doi=  }}
* {{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 | author=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= }}
* {{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 | author=Pennisi DJ, James KM, Hosking B, ''et al.'' |title=Structure, mapping, and expression of human SOX18. |journal=Mamm. Genome |volume=11 |issue= 12 |pages= 1147-9 |year= 2001 |pmid= 11130989 |doi= }}
* {{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 | author=Hosking BM, Wang SC, Chen SL, ''et al.'' |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 | 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 | author=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 | 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 | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
* {{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 }}
*{{cite journal  | author=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= 2003 |pmid= 12165811 |doi= }}
{{Refend}}
*{{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 | author=Irrthum A, Devriendt K, Chitayat D, ''et al.'' |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 |doi=  }}
*{{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 | author=García-Ramírez M, Martínez-González J, Juan-Babot JO, ''et al.'' |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= 2006 |pmid= 16179596 |doi= 10.1161/01.ATV.0000187464.81959.23 }}
*{{cite journal | author=Young N, Hahn CN, Poh A, ''et al.'' |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}}


== External links ==
== External links ==
* {{MeshName|SOX18+protein,+human}}
* {{MeshName|SOX18+protein,+human}}


{{NLM content}}
{{Transcription factors|g4}}


{{protein-stub}}
{{NLM content}}
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{Gene-20-stub}}

Latest revision as of 06:51, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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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

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

  1. ↑ 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. ↑ 2.0 2.1 "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18".
  3. ↑ 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

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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