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Details on Person UniProt:P28360 MSX1
| Class:Id | ReferenceGeneProduct:56606 |
|---|---|
| _chainChangeLog | chain:1-303 added on Fri February 6 2015 |
| _displayName | UniProt:P28360 MSX1 |
| _timestamp | 2025-02-21 19:09:30 |
| chain | chain:1-303 |
| checksum | 1B5F01B35920E64F |
| comment | FUNCTION Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements (DARE) in the gene promoter, thereby repressing the transcription of CGA/alpha-GSU and GNRHR (By similarity). Represses transcription of myoblast differentiation factors (By similarity). Binds to core enhancer regions in target gene promoters of myoblast differentiation factors with binding specificity facilitated by interaction with PIAS1 (By similarity). Regulates, in a stage-specific manner, a developmental program of gene expression in the fetal tooth bud that controls odontoblast differentiation and proliferation of dental mesenchymal cells (By similarity). At the bud stage, required for mesenchymal molar tooth bud development via facilitating reciprocal signaling between dental epithelial and mesenchymal cells (By similarity). May also regulate expression of Wnt antagonists such as DKK2 and SFPR2 in the developing tooth mesenchyme (By similarity). Required for BMP4 expression in dental mesenchyme cells (By similarity). Also, in response to BMP4, required for BMP4 expression in neighboring dental epithelial cells (By similarity). Required for maximal FGF4-induced expression of SDC1 in dental mesenchyme cells (By similarity). Also in response to SDC1, required for SDC1 expression in neighboring dental epithelial cells (By similarity). At the early bell stage, acts to drive proliferation of dental mesenchyme cells, however during the late bell stage acts as an homeostatic regulator of the cell cycle (By similarity). Regulates proliferation and inhibits premature mesenchymal odontogenesis during the bell stage via inhibition of the Wnt signaling component CTNNB1 and subsequent repression of the odontoblast differentiation factors BMP2, BMP4, LEF1, ALPL and BGLAP/OCN (By similarity). Additionally, required for correct development and fusion of the palatal shelves and embryonic mandibular formation (By similarity). Plays a role in embryonic bone formation of the middle ear, skull and nasal bones (By similarity). Required for correct formation and thickness of the nail plate (By similarity). May play a role in limb-pattern formation (By similarity).SUBUNIT Interacts with CREBBP/CBP, TBP and SP1; interaction with these transcription activators may inhibit autoinactivation (By similarity). Interacts (via C-terminus) with PIAS1 (via N-terminus); the interaction is required for the localization of both proteins to the nuclear periphery and specific binding of MSX1 to the core enhancer region in target gene promoters (PubMed:16600910). Interacts with H1-5 (By similarity).INTERACTION Interaction with PIAS1 is required for localization to the nuclear periphery (By similarity).PTM Sumoylated by PIAS1, desumoylated by SENP1 (By similarity). Sumoylation of Lys-15 and Lys-133 not required for interaction with H1-5, transcriptional repression, inhibition of myoblast differentiation, or binding to gene promoters (By similarity).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE 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 The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the Msh homeobox family.CAUTION It is uncertain whether Met-1 or Met-7 is the initiator.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Truncated N-terminus. |
| description | recommendedName: fullName evidence="12"Homeobox protein MSX-1 alternativeName: Homeobox protein Hox-7 alternativeName: Msh homeobox 1-like protein |
| geneName | MSX1 HOX7 |
| identifier | P28360 |
| isSequenceChanged | FALSE |
| keyword | Developmental protein Disease variant DNA-binding Ectodermal dysplasia Homeobox Isopeptide bond Nucleus Proteomics identification Reference proteome Repressor Transcription Transcription regulation Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | MSX1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8991982] ENSEMBL:ENSG00000163132 MSX1 [Homo sapiens] |
| secondaryIdentifier | MSX1_HUMAN A0SZU5 A8K3M1 Q96NY4 |
| sequenceLength | 303 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:9834900] MSX1 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P28360 MSX1 (56606)
