SOX13

SOX13
Identifiers
Aliases	SOX13, ICA12, Sox-13, SRY-box 13, SRY-box transcription factor 13
External IDs	OMIM: 604748; MGI: 98361; HomoloGene: 4159; GeneCards: SOX13; OMA:SOX13 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	204,127,743 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	133,352,115 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; right lung; ; body of uterus; ; canal of the cervix; ; popliteal artery; ; tibial arteries; ; left uterine tube; ; right uterine tube; ; upper lobe of left lung; ; ectocervix;
	Top expressed in
	saccule; ; otic placode; ; otic vesicle; ; tail of embryo; ; intestinal villus; ; Ileal epithelium; ; lactiferous gland; ; ventricular zone; ; choroid plexus of fourth ventricle; ; lens;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA-binding transcription factor activity; sequence-specific DNA binding; DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus; nucleoplasm;
Biological process	anatomical structure morphogenesis; regulation of transcription, DNA-templated; transcription, DNA-templated; regulation of gamma-delta T cell differentiation; regulation of transcription by RNA polymerase II; cell fate commitment; negative regulation of transcription, DNA-templated; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	9580
	20668
	ENSG00000143842
	ENSMUSG00000070643
	Q9UN79
	Q04891
	NM_005686
	NM_011439
	NP_005677
	NP_035569
	Wikidata
View/Edit Human	View/Edit Mouse

Transcription factor SOX-13 is a protein that in humans is encoded by the SOX13 gene.^[5]^[6]

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 cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12.^[6]

In melanocytic cells SOX13 gene expression may be regulated by MITF.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143842 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000070643 – 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.
^ Roose J, Korver W, de Boer R, Kuipers J, Hurenkamp J, Clevers H (Apr 1999). "The Sox-13 gene: structure, promoter characterization, and chromosomal localization". Genomics. 57 (2): 301–5. doi:10.1006/geno.1999.5779. PMID 10198172.
^ ^a ^b "Entrez Gene: SOX13 SRY (sex determining region Y)-box 13".
^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (Dec 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

Wilson M, Koopman P (Aug 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development. 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
Schepers GE, Teasdale RD, Koopman P (Aug 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell. 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
Roose J, Korver W, Oving E, Wilson A, Wagenaar G, Markman M, Lamers W, Clevers H (Jan 1998). "High expression of the HMG box factor sox-13 in arterial walls during embryonic development". Nucleic Acids Research. 26 (2): 469–76. doi:10.1093/nar/26.2.469. PMC 147262. PMID 9421502.
Argentaro A, Olsson J, Critcher R, McDowall SG, Harley VR (May 2000). "Genomic characterisation and fine mapping of the human SOX13 gene". Gene. 250 (1–2): 181–9. doi:10.1016/S0378-1119(00)00157-8. PMID 10854791.
Kasimiotis H, Myers MA, Argentaro A, Mertin S, Fida S, Ferraro T, Olsson J, Rowley MJ, Harley VR (Apr 2000). "Sex-determining region Y-related protein SOX13 is a diabetes autoantigen expressed in pancreatic islets". Diabetes. 49 (4): 555–61. doi:10.2337/diabetes.49.4.555. PMID 10871192.
Steinbrenner H, Lohmann T, Ostendorf B, Scherbaum WA, Seissler J (Nov 2000). "Autoantibodies to ICA12 (SOX-13) are not specific for Type I diabetes". Diabetologia. 43 (11): 1381–4. doi:10.1007/s001250051542. PMID 11126406.
Kasimiotis H, Fida S, Rowley MJ, Mackay IR, Zimmet PZ, Gleason S, Rabin DU, Myers MA (2001). "Antibodies to SOX13 (ICA12) are associated with type 1 diabetes". Autoimmunity. 33 (2): 95–101. doi:10.3109/08916930108995994. PMID 11264788. S2CID 43867785.
Lampasona V, Scirpoli M, Bosi E, Bonifacio E (Feb 2001). "ICA12(SOX13) autoantibodies are unlikely to be a useful marker for pre-clinical Type I diabetes". Diabetologia. 44 (2): 267. doi:10.1007/s001250051610. PMID 11270687.
Argentaro A, Wapelhorst B, Concannon P, Harley VR (Apr 2001). "Linkage studies of SOX13, the ICA12 autoantigen gene, in families with type 1 diabetes". Molecular Genetics and Metabolism. 72 (4): 356–9. doi:10.1006/mgme.2000.3136. PMID 11286511.
Fida S, Myers M, Mackay IR, Zimmet PZ, Mohan V, Deepa R, Rowley MJ (Jun 2001). "Antibodies to diabetes-associated autoantigens in Indian patients with Type 1 diabetes: prevalence of anti-ICA512/IA2 and anti-SOX13". Diabetes Research and Clinical Practice. 52 (3): 205–11. doi:10.1016/S0168-8227(01)00230-3. PMID 11323090.
Tandon N, Shtauvere-Brameus A, Hagopian WA, Sanjeevi CB (Apr 2002). "Prevalence of ICA-12 and other autoantibodies in north Indian patients with early-onset diabetes". Annals of the New York Academy of Sciences. 958 (1): 214–7. Bibcode:2002NYASA.958..214T. doi:10.1111/j.1749-6632.2002.tb02972.x. PMID 12021109. S2CID 39609924.
Törn C, Shtauvere-Brameus A, Sanjeevi CB, Landin-Olsson M (Apr 2002). "Increased autoantibodies to SOX13 in Swedish patients with type 1 diabetes". Annals of the New York Academy of Sciences. 958 (1): 218–23. Bibcode:2002NYASA.958..218T. doi:10.1111/j.1749-6632.2002.tb02973.x. PMID 12021110. S2CID 38116575.
Shtauvere-Brameus A, Hagopian W, Rumba I, Sanjeevi CB (Apr 2002). "Antibodies to new beta cell antigen ICA12 in Latvian diabetes patients". Annals of the New York Academy of Sciences. 958 (1): 297–304. Bibcode:2002NYASA.958..297S. doi:10.1111/j.1749-6632.2002.tb02991.x. PMID 12021128. S2CID 26701600.
Gupta M, Tandon N, Shtauvere-Brameus A, Sanjeevi CB (Apr 2002). "ICA12 autoantibodies are associated with non-DR3/non-DR4 in patients with latent autoimmune diabetes in adults from northern India". Annals of the New York Academy of Sciences. 958 (1): 329–32. Bibcode:2002NYASA.958..329G. doi:10.1111/j.1749-6632.2002.tb02998.x. PMID 12021135. S2CID 32027653.
Fida S, Myers MA, Whittingham S, Rowley MJ, Ozaki S, Mackay IR (Dec 2002). "Autoantibodies to the transcriptional factor SOX13 in primary biliary cirrhosis compared with other diseases". Journal of Autoimmunity. 19 (4): 251–7. doi:10.1006/jaut.2002.0622. PMID 12473246.
Park Y, Park H, Yoo E, Kim D (Nov 2003). "SOX13 autoantibodies are likely to be a supplementary marker for type 1 diabetes in Korea". Annals of the New York Academy of Sciences. 1005 (1): 253–8. Bibcode:2003NYASA1005..253P. doi:10.1196/annals.1288.038. PMID 14679071. S2CID 11552139.

External links

SOX13+protein,+human at the U.S. 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 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143842 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000070643 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10198172-5] Roose J, Korver W, de Boer R, Kuipers J, Hurenkamp J, Clevers H (Apr 1999). "The Sox-13 gene: structure, promoter characterization, and chromosomal localization". Genomics. 57 (2): 301–5. doi:10.1006/geno.1999.5779. PMID 10198172.

[entrez-6] "Entrez Gene: SOX13 SRY (sex determining region Y)-box 13".

[pmid19067971-7] Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (Dec 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

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SOX13

Function

See also

References

Further reading

External links