MSX1

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]

Full Name

Msh Homeobox 1

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.

Biological Process

Activation of meiosis Source: Ensembl
Anterior/posterior pattern specification Source: Ensembl
BMP signaling pathway involved in heart development Source: Ensembl
Bone morphogenesis Source: Ensembl
Cardiac conduction system development Source: BHF-UCL
Cartilage morphogenesis Source: Ensembl
Cell morphogenesis Source: BHF-UCL
Embryonic forelimb morphogenesis Source: Ensembl
Embryonic hindlimb morphogenesis Source: Ensembl
Embryonic morphogenesis Source: GO_Central
Embryonic nail plate morphogenesis Source: BHF-UCL
Epithelial to mesenchymal transition involved in endocardial cushion formation Source: Ensembl
Face morphogenesis Source: BHF-UCL
Forebrain development Source: Ensembl
In utero embryonic development Source: Ensembl
Mammary gland epithelium development Source: Ensembl
Mesenchymal cell proliferation Source: Ensembl
Midbrain development Source: Ensembl
Middle ear morphogenesis Source: Ensembl
Muscle organ development Source: Ensembl
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of cell growth Source: BHF-UCL
Negative regulation of cell population proliferation Source: Ensembl
Negative regulation of striated muscle cell differentiation Source: Ensembl
Negative regulation of transcription regulatory region DNA binding Source: Ensembl
Odontogenesis of dentin-containing tooth Source: BHF-UCL
Positive regulation of BMP signaling pathway Source: Ensembl
Positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
Positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator Source: BHF-UCL
Positive regulation of mesenchymal cell apoptotic process Source: Ensembl
Protein localization to nucleus Source: BHF-UCL
Protein stabilization Source: BHF-UCL
Regulation of odontogenesis Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Roof of mouth development Source: Ensembl
Signal transduction involved in regulation of gene expression Source: Ensembl
Stem cell differentiation Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Tooth agenesis, selective, 1 (STHAG1):
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). STHAG1 can be associated with orofacial cleft in some patients.
Ectodermal dysplasia 3, Witkop type (ECTD3):
A form of ectodermal dysplasia, a heterogeneous group of disorders due to 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. ECTD3 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.
Non-syndromic orofacial cleft 5 (OFC5):
A 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.

PTM

Sumoylated by PIAS1, desumoylated by SENP1.