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SOX Genes
''SOX'' genes ('' SRY''-related HMG-box genes) encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box (for high mobility group). This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species. Homologues have been identified in insects, nematodes, amphibians, reptiles, birds and a range of mammals. However, HMG boxes can be very diverse in nature, with only a few amino acids being conserved between species. Sox genes are defined as containing the HMG box of a gene involved in sex determination called '' SRY'', which resides on the Y-chromosome. There are 20 SOX genes present in humans and mice, and 8 present in Drosophila. Almost all Sox genes show at least 50% amino acid similarity with the HMG box in Sry. The family is divided into subgroups according to homology within the HMG domain and other structural motifs, as well as a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HMG-box
In molecular biology, the HMG-box (high mobility group box) is a protein domain which is involved in DNA binding. Structure The structure of the HMG-box domain contains three alpha helices separated by loops (see figure to the right). Function HMG-box containing proteins only bind non- B-type DNA conformations (kinked or unwound) with high affinity. HMG-box domains are found in some high mobility group proteins, which are involved in the regulation of DNA-dependent processes such as transcription, replication, and DNA repair, all of which require changing the conformation of chromatin Chromatin is a complex of DNA and protein found in eukaryote, eukaryotic cells. The primary function is to package long DNA molecules into more compact, denser structures. This prevents the strands from becoming tangled and also plays important .... The single and the double box HMG proteins alter DNA architecture by inducing bends upon binding.D. Murugesapillai ''et al''Single-molecule st ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX3
Transcription factor SOX-3 is a protein that in humans is encoded by the ''SOX3'' gene. This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator. Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism. A duplication of the SOX3 gene has also been discovered to cause XX male sex reversal. SRY-box transcription factor 3, SOX3, is a transcription factor that is encoded by the SOX3 gene. This gene is responsible for ensuring proper embryonic development and determining the fate of different cells. Regarding its developmental facet, SOX3, alongside other SOX transcription factors, ensures the proper formation of the hypothalam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX17
SRY-box 17 is a protein that in humans is encoded by the SOX17 gene. Regulation at the human ''SOX17'' locus The gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, located on Chromosome 8 q11.23. It's gene body is isolated within a CTCF loop domain. Approximately 230 kb upstream of ''SOX17'' it has been identified a tissue specific differentially (hypo-)methylated region (DMR), which consists of ''SOX17'' regulatory elements. The DMR in particular bears the most distal definitive endoderm specific enhancer at the ''SOX17'' locus. ''SOX17'' itself has recently been defined as so called topologically insulated gene (TIG). TIGs per definition are single protein coding genes (PCGs) within CTCF loop domains, that are mainly enriched in developmental regulators and suggested to be very tightly controlled via their 3D loop-domain architecture. Function in development SOX17 is involved in the regulation of vertebrate embryonic development and in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX7
SRY-box 7 is a protein that in humans is encoded by the SOX7 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 protein may play a role in tumorigenesis Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells. The process is characterized by changes at the cellular, genetic, and epigenetic levels and abnor .... A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. rovided by RefSeq, Jul 2008 SOX7 is a transcription factor that comes from the SRY-related HMG-Box family of transcription factors. These factors play a significant developmental role in regul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX10
Transcription factor SOX-10 is a protein that in humans is encoded by the ''SOX10'' gene. Function This gene encodes a member of the SOX gene family, SOX (Testis-determining factor, SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and determination of cell fate determination, cell fate. The encoded protein acts as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. In melanocyte, melanocytic cells, there is evidence that SOX10 gene expression may be regulated by Microphthalmia-associated transcription factor, MITF. Mutations Mutations in this gene are associated with Waardenburg–Shah syndrome and uveal melanoma. Immunostain SOX10 is used as an immunohistochemistry marker, being positive in: Topic Completed: 1 February 2014. Revised: 20 September 2019 *Neuro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX9
Transcription factor SOX-9 is a protein that in humans is encoded by the ''SOX9'' gene. Function SOX-9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It is expressed by proliferating but not hypertrophic chondrocytes that is essential for differentiation of precursor cells into chondrocytes and, with steroidogenic factor 1, regulates transcription of the anti-Müllerian hormone ( AMH) gene. SOX-9 also plays a pivotal role in male sexual development; by working with Sf1, SOX-9 can produce AMH in Sertoli cells to inhibit the creation of a female reproductive system. It also interacts with a few other genes to promote the development of male sexual organs. The process starts when the transcription factor Testis determining factor (encoded by the sex-determining region SRY of the Y chromosome) activates SOX-9 activity by binding to an enhancer sequence upstream of the gene. Next, Sox9 activates FGF9 and forms feedforward ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX8
Transcription factor SOX-8 is a protein that in humans is encoded by the ''SOX8'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... 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 activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ATR-16 syndrome). See also * SOX genes References Further reading * * * * * * * * * Transcription factors {{gene-16-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX13
Transcription factor SOX-13 is a protein that in humans is encoded by the ''SOX13'' 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 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. In melanocytic cells SOX13 gene expression may be regulated by MITF Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene. MITF is a basic helix-loop-helix leucine zipper transcription fact .... See also * SOX genes References Further reading * * * * * * * * * * * * * * * * External links * Transcription factors {{gene-1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX6
Transcription factor SOX-6 is a protein that in humans is encoded by the ''SOX6'' gene. Function The SOX gene family encodes a group of transcription factors defined by the conserved high mobility group (HMG) DNA-binding domain. Unlike most transcription factors, SOX transcription factors bind to the minor groove of DNA, causing a 70- to 85-degree bend and introducing local conformational changes. upplied by OMIMref name="entrez"/> Interactions SOX6 has been shown to interact with CTBP2 and CENPK Centromere protein K is a protein that in humans is encoded by the ''CENPK'' gene. Interactions CENPK has been shown to interact with SOX6 Transcription factor SOX-6 is a protein that in humans is encoded by the ''SOX6'' gene. Function .... It has also been demonstrated that SOX6 protein accumulates in the differentiating human erythrocytes, and then is able to downregulate its own transcription, by directly binding to an evolutionarily conserved consensus sequences ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX5
Transcription factor SOX-5 is a protein that in humans is encoded by the ''SOX5'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... 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 References Further reading * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX12
SOX12 is a protein that in humans is encoded by the ''SOX12'' gene. Sox12 belongs to the SoxC group of Sox family of transcription factors, together with Sox4 Transcription factor SOX-4 is a protein that in humans is encoded by the ''SOX4'' gene. Function This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic dev ... and Sox11. Sox12-null knockout mice appear normal, unlike Sox4 or Sox11 knockout mice. This probably comes from functional redundancy with Sox4 and Sox11. Sox12 is a weaker activator than both Sox4 and Sox11 in mouse. Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX11
Transcription factor SOX-11 is a protein that in humans is encoded by the ''SOX11'' gene. Function This intronless gene encodes a member of the group C SOX ( SRY-related HMG-box) transcription factor family 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 function in the developing nervous system and play a role in tumorigenesis and adult neurogenesis. Tuj1 and Tead2 are suggested as direct target of Sox11. Clinical aspect Lymphocyte staining for SOX11 immunohistochemistry indicates mantle cell lymphoma (cyclin D1 positive and negative) rather than other mature lymphoid neoplasms or normal lymphocytes. Mutations in SOX11 are associated with Coffin–Siris syndrome and mantle cell lymphoma. See also * SOX genes ''SOX'' genes ('' SRY''-related HMG-box genes) encode a family of transcription factors t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |