SOX5

SOX5
Identifiers
Aliases	SOX5, L-L-SOX5B, L-SOX5F, LAMSHF, SRY-box 5, SRY-box transcription factor 5
External IDs	OMIM: 604975; MGI: 98367; HomoloGene: 21378; GeneCards: SOX5; OMA:SOX5 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12p12.1 Start 23,529,504 bp End 24,562,544 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 G3|6 76.14 cM Start 143,828,425 bp End 144,781,977 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon synovial joint sural nerve tibia ganglionic eminence ventricular zone cartilage tissue left testis right testis skin of thigh Top expressed in seminiferous tubule spermatid ganglionic eminence Rostral migratory stream lumbar subsegment of spinal cord subiculum foot ankle joint lateral geniculate nucleus external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process cellular response to transforming growth factor beta stimulus regulation of transcription, DNA-templated transcription by RNA polymerase II positive regulation of cartilage development positive regulation of chondrocyte differentiation positive regulation of mesenchymal stem cell differentiation transcription, DNA-templated asymmetric neuroblast division 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 Species Human Mouse Entrez 6660 20678 Ensembl ENSG00000134532 ENSMUSG00000041540 UniProt P35711 P35710 RefSeq (mRNA) NM_001261414 NM_001261415 NM_006940 NM_152989 NM_178010 NM_001330785 NM_001113559 NM_001243163 NM_011444 NM_001347506 RefSeq (protein) NP_001248343 NP_001248344 NP_001317714 NP_008871 NP_694534 NP_821078 NP_001107031 NP_001230092 NP_001334435 NP_035574 Location (UCSC) Chr 12: 23.53 – 24.56 Mb Chr 6: 143.83 – 144.78 Mb PubMed search
Wikidata
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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

• Kamachi Y, Uchikawa M, Kondoh H (April 2000). "Pairing SOX off: with partners in the regulation of embryonic development". Trends in Genetics. 16 (4): 182–187. doi:10.1016/S0168-9525(99)01955-1. PMID 10729834.
• Bowles J, Schepers G, Koopman P (November 2000). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators". Developmental Biology. 227 (2): 239–255. doi:10.1006/dbio.2000.9883. PMID 11071752.
• Wilson M, Koopman P (August 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development. 12 (4): 441–446. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
• Schepers GE, Teasdale RD, Koopman P (August 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell. 3 (2): 167–170. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
• Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (June 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC 336939. PMID 1614875.
• Connor F, Cary PD, Read CM, Preston NS, Driscoll PC, Denny P, et al. (August 1994). "DNA binding and bending properties of the post-meiotically expressed Sry-related protein Sox-5". Nucleic Acids Research. 22 (16): 3339–3346. doi:10.1093/nar/22.16.3339. PMC 523727. PMID 8078769.
• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Lefebvre V, Li P, de Crombrugghe B (October 1998). "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): 5718–5733. doi:10.1093/emboj/17.19.5718. PMC 1170900. PMID 9755172.
• Uusitalo H, Hiltunen A, Ahonen M, Gao TJ, Lefebvre V, Harley V, et al. (October 2001). "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): 1837–1845. doi:10.1359/jbmr.2001.16.10.1837. PMID 11585348. S2CID 42947355.
• Zafarana G, Gillis AJ, van Gurp RJ, Olsson PG, Elstrodt F, Stoop H, et al. (March 2002). "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): 1822–1831. PMID 11912161.
• Ikeda T, Zhang J, Chano T, Mabuchi A, Fukuda A, Kawaguchi H, et al. (September 2002). "Identification and characterization of the human long form of Sox5 (L-SOX5) gene". Gene. 298 (1): 59–68. doi:10.1016/S0378-1119(02)00927-7. PMID 12406576.