Biology:SOX5

Short description: Protein-coding gene in Homo sapiens

Generic protein structure example

Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.

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 encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

Mutations in the SOX5 gene can cause Lamb-Shaffer syndrome.

See also

• SOX genes

Further reading

• "Pairing SOX off: with partners in the regulation of embryonic development". Trends in Genetics 16 (4): 182–7. Apr 2000. doi:10.1016/S0168-9525(99)01955-1. PMID 10729834. 
• "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators". Developmental Biology 227 (2): 239–55. Nov 2000. doi:10.1006/dbio.2000.9883. PMID 11071752. 
• "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development 12 (4): 441–6. Aug 2002. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890. 
• "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell 3 (2): 167–70. Aug 2002. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848. 
• "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research 20 (11): 2887. Jun 1992. doi:10.1093/nar/20.11.2887. PMID 1614875. 
• "DNA binding and bending properties of the post-meiotically expressed Sry-related protein Sox-5". Nucleic Acids Research 22 (16): 3339–46. Aug 1994. doi:10.1093/nar/22.16.3339. PMID 8078769. 
• "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. Sep 1996. doi:10.1101/gr.6.9.791. PMID 8889548. 
• "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• "A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene". The EMBO Journal 17 (19): 5718–33. Oct 1998. doi:10.1093/emboj/17.19.5718. PMID 9755172. 
• "Accelerated up-regulation of L-Sox5, Sox6, and Sox9 by BMP-2 gene transfer during murine fracture healing". Journal of Bone and Mineral Research 16 (10): 1837–45. Oct 2001. doi:10.1359/jbmr.2001.16.10.1837. PMID 11585348. 
• "Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation". Cancer Research 62 (6): 1822–31. Mar 2002. PMID 11912161. 
• "Identification and characterization of the human long form of Sox5 (L-SOX5) gene". Gene 298 (1): 59–68. Sep 2002. doi:10.1016/S0378-1119(02)00927-7. PMID 12406576.