Human Gene MSX1 (ENST00000382723.5) from GENCODE V44
Description: Homo sapiens msh homeobox 1 (MSX1), mRNA. (from RefSeq NM_002448) RefSeq Summary (NM_002448): This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000382723.5 Gencode Gene: ENSG00000163132.8 Transcript (Including UTRs) Position: hg38 chr4:4,859,665-4,863,936 Size: 4,272 Total Exon Count: 2 Strand: + Coding Region Position: hg38 chr4:4,859,900-4,863,143 Size: 3,244 Coding Exon Count: 2
ID:MSX1_HUMAN DESCRIPTION: RecName: Full=Homeobox protein MSX-1; AltName: Full=Homeobox protein Hox-7; AltName: Full=Msh homeobox 1-like protein; FUNCTION: Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in the developing nail bed mesenchyme. PTM: Sumoylated by PIAS1, desumoylated by SENP1 (By similarity). DISEASE: Defects in MSX1 are the cause of tooth agenesis selective type 1 (STHAG1) [MIM:106600]. A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Tooth agenesis selective type 1 can be associated with orofacial cleft in some patients. DISEASE: Note=MSX1 is deleted in some patients with Wolf- Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4. DISEASE: Defects in MSX1 are the cause of Witkop syndrome (WITS) [MIM:189500]. WITS is a form of ectodermal dyslasia also called tooth-and-nail syndrome or dysplasia of nails with hypodontia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Witkop syndrome is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected. DISEASE: Defects in MSX1 are the cause of non-syndromic orofacial cleft type 5 (OFC5) [MIM:608874]; also called non-syndromic cleft lip with or without cleft palate 5. Non-syndromic orofacial cleft is a common birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two- third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. SIMILARITY: Belongs to the Msh homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. SEQUENCE CAUTION: Sequence=AAH21285.4; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P28360
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000982 transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0002039 p53 binding GO:0003677 DNA binding GO:0035326 enhancer binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0000902 cell morphogenesis GO:0001701 in utero embryonic development GO:0001837 epithelial to mesenchymal transition GO:0003007 heart morphogenesis GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007507 heart development GO:0007517 muscle organ development GO:0008285 negative regulation of cell proliferation GO:0009952 anterior/posterior pattern specification GO:0010463 mesenchymal cell proliferation GO:0021983 pituitary gland development GO:0023019 signal transduction involved in regulation of gene expression GO:0030308 negative regulation of cell growth GO:0030326 embryonic limb morphogenesis GO:0030509 BMP signaling pathway GO:0030513 positive regulation of BMP signaling pathway GO:0030900 forebrain development GO:0030901 midbrain development GO:0034504 protein localization to nucleus GO:0035115 embryonic forelimb morphogenesis GO:0035116 embryonic hindlimb morphogenesis GO:0035880 embryonic nail plate morphogenesis GO:0042474 middle ear morphogenesis GO:0042475 odontogenesis of dentin-containing tooth GO:0042476 odontogenesis GO:0042481 regulation of odontogenesis GO:0042733 embryonic digit morphogenesis GO:0043066 negative regulation of apoptotic process GO:0043392 negative regulation of DNA binding GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0045892 negative regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048863 stem cell differentiation GO:0050821 protein stabilization GO:0051154 negative regulation of striated muscle cell differentiation GO:0051216 cartilage development GO:0060021 palate development GO:0060325 face morphogenesis GO:0060349 bone morphogenesis GO:0060536 cartilage morphogenesis GO:0061180 mammary gland epithelium development GO:0061312 BMP signaling pathway involved in heart development GO:0071316 cellular response to nicotine GO:0090427 activation of meiosis GO:1902255 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator GO:2000678 negative regulation of transcription regulatory region DNA binding GO:2001055 positive regulation of mesenchymal cell apoptotic process