SOX30

SOX30
Identifiers
Aliases	SOX30 , SRY-box 30, SRY-box transcription factor 30
External IDs	OMIM: 606698; MGI: 1341157; HomoloGene: 34027; GeneCards: SOX30; OMA:SOX30 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q33.3 Start 157,625,679 bp [1] End 157,671,480 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 B1.1|11 27.49 cM Start 45,871,137 bp [2] End 45,908,821 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis secondary oocyte testicle gonad sperm mucosa of transverse colon stromal cell of endometrium islet of Langerhans right uterine tube Top expressed in female urethra spermatocyte spermatid seminiferous tubule male urethra embryo retina ovary islet of Langerhans urinary bladder More reference expression data BioGPS n/a
Gene ontology Molecular function sequence-specific DNA binding DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process response to corticosteroid regulation of transcription, DNA-templated transcription, DNA-templated spermatogenesis regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11063 214105 Ensembl ENSG00000039600 ENSMUSG00000040489 UniProt O94993 Q8CGW4 RefSeq (mRNA) NM_001308165 NM_007017 NM_178424 NM_173384 RefSeq (protein) NP_001295094 NP_008948 NP_848511 NP_775560 Location (UCSC) Chr 5: 157.63 – 157.67 Mb Chr 11: 45.87 – 45.91 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SRY (sex determining region Y)-box 30 is a protein that in humans is encoded by the SOX30 gene. ^[5]

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. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].

References

1. GRCh38: Ensembl release 89: ENSG00000039600 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040489 – 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.
5. "Entrez Gene: SRY (sex determining region Y)-box 30" . Retrieved 2014-05-29.

Further reading

• Koopman P, Schepers G, Brenner S, Venkatesh B (March 2004). "Origin and diversity of the SOX transcription factor gene family: genome-wide analysis in Fugu rubripes". Gene. 328: 177–186. doi:10.1016/j.gene.2003.12.008. PMID   15019997.
• Osaki E, Nishina Y, Inazawa J, Copeland NG, Gilbert DJ, Jenkins NA, et al. (June 1999). "Identification of a novel Sry-related gene and its germ cell-specific expression". Nucleic Acids Research. 27 (12): 2503–2510. doi:10.1093/nar/27.12.2503. PMC   148454 . PMID   10359848.
• Fan BJ, Wang DY, Tham CC, Lam DS, Pang CP (May 2008). "Gene expression profiles of human trabecular meshwork cells induced by triamcinolone and dexamethasone". Investigative Ophthalmology & Visual Science. 49 (5): 1886–1897. doi:10.1167/iovs.07-0414. PMID   18436822.
• Bullejos M, Díaz de la Guardia R, Barragán MJ, Sánchez A (2000). "HMG-box sequences from microbats homologous to the human SOX30 HMG-box". Genetica. 110 (2): 157–162. doi:10.1023/A:1017914005677. PMID   11678506. S2CID   16100625.

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