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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]
MSX1 (Msh Homeobox 1) is a Protein Coding gene. Diseases associated with MSX1 include Witkop Syndrome and Orofacial Cleft 5. Among its related pathways are Neuroscience and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and p53 binding. An important paralog of this gene is MSX2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA,IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 15705871 |
GO:0005654 | nucleoplasm | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neuroscience | ||
2 | Wnt / Hedgehog / Notch | ||
3 | Human T-cell leukemia virus 1 infection | ||
4 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
5 | Dopaminergic Neurogenesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0000902 | cell morphogenesis | IDA | 15705871 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001837 | epithelial to mesenchymal transition | IEA | -- |
GO:0003007 | heart morphogenesis | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
a-MSH, amide | Pharma | Melanocyte-stimulating hormones | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
a-MSH, amide | Melanocyte-stimulating hormones |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MSX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MSX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MSX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Msx1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Msx1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MSX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MSX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GHOX-7 31 |
|
OneToOne | |
MSX1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | MSX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | msx1 30 |
|
||
LOC394692 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16449 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | msxe 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Dr 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | vab-15 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
647201 | Uncertain Significance: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 4,860,001(+) | C/G | MISSENSE_VARIANT | |
691922 | Uncertain Significance: Craniosynostosis | 4,863,048(+) | G/A | MISSENSE_VARIANT | |
702889 | Likely Benign: not provided | 4,862,855(+) | G/T | SYNONYMOUS_VARIANT | |
703022 | Benign: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 4,860,117(+) | C/T | MISSENSE_VARIANT | |
703322 | Likely Benign: not provided | 4,863,009(+) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1451e212 | CNV | loss | 25503493 |
dgv1452e212 | CNV | loss | 25503493 |
esv34196 | OTHER | inversion | 12058347 |
esv3569251 | CNV | loss | 25503493 |
esv3569255 | CNV | loss | 25503493 |
esv3569256 | CNV | loss | 25503493 |
nsv1074677 | CNV | deletion | 25765185 |
nsv997889 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
witkop syndrome |
|
|
orofacial cleft 5 |
|
|
tooth agenesis, selective, 1 |
|
|
tooth agenesis |
|
|
cleft lip |
|