| Tag | Content |
|---|---|
| Uniprot ID | P56177; D3DPD7; Q53ZU4; Q7Z724; Q8IYB2; |
| Entrez ID | 1745 |
| Genbank protein ID | AAH53351.1; EAX11185.1; EAX11187.1; AAO91939.1; AAH36189.2; |
| Genbank nucleotide ID | NM_178120.4; NM_001038493.1; |
| Ensembl protein ID | ENSP00000341786; ENSP00000354478; |
| Ensembl nucleotide ID | ENSG00000144355 |
| Gene name | Homeobox protein DLX-1 |
| Gene symbol | DLX1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 25463899 |
| Functional description | Plays a role as a transcriptional activator or repressor (PubMed:14671321). Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation (PubMed:14671321). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (By similarity). |
| Sequence | MTMTTMPESL NSPVSGKAVF MEFGPPNQQM SPSPMSHGHY SMHCLHSAGH SQPDGAYSSA 60 SSFSRPLGYP YVNSVSSHAS SPYISSVQSY PGSASLAQSR LEDPGADSEK STVVEGGEVR 120 FNGKGKKIRK PRTIYSSLQL QALNRRFQQT QYLALPERAE LAASLGLTQT QVKIWFQNKR 180 SKFKKLMKQG GAALEGSALA NGRALSAGSP PVPPGWNPNS SSGKGSGGNA GSYIPSYTSW 240 YPSAHQEAMQ QPQLM 255 |
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.