Tag | Content |
---|---|
Uniprot ID | P28360; A0SZU5; A8K3M1; Q96NY4; |
Entrez ID | 4487 |
Genbank protein ID | AAH21285.4; AAA58665.1; AAL17870.1; AAA52683.1; AAH67353.1; ABK81117.1; BAF83325.1; |
Genbank nucleotide ID | NM_002448.3 |
Ensembl protein ID | ENSP00000372170 |
Ensembl nucleotide ID | ENSG00000163132 |
Gene name | Homeobox protein MSX-1 |
Gene symbol | MSX1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | CPO,CL/P |
Developmental stage | |
Data sources | Manually collected |
Reference | 21972896; 20572854; 23580168; 15381719; 14981713; 14755461; 12651933; 21740177; 21689018; 24603642; 16868654; 18177186; 18932005; 26602496; 28232668; 20087401; 20635363; 21866112; 11332647; 17326252; 15354328; 9683588; 12916025; 23903689; 25953455; |
Functional description | 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. |
Sequence | MAPAADMTSL PLGVKVEDSA FGKPAGGGAG QAPSAAAATA AAMGADEEGA KPKVSPSLLP 60 FSVEALMADH RKPGAKESAL APSEGVQAAG GSAQPLGVPP GSLGAPDAPS SPRPLGHFSV 120 GGLLKLPEDA LVKAESPEKP ERTPWMQSPR FSPPPARRLS PPACTLRKHK TNRKPRTPFT 180 TAQLLALERK FRQKQYLSIA ERAEFSSSLS LTETQVKIWF QNRRAKAKRL QEAELEKLKM 240 AAKPMLPPAA FGLSFPLGGP AAVAAAAGAS LYGASGPFQR AALPVAPVGL YTAHVGYSMY 300 HLT 303 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.