| Tag | Content |
|---|---|
| Uniprot ID | Q8C8B0; Q8C370; |
| Entrez ID | 216285 |
| Genbank protein ID | BAC33173.1; BAC39730.1; AAH52200.1; |
| Genbank nucleotide ID | NM_172553.4; XM_006513529.2; |
| Ensembl protein ID | ENSMUSP00000129230; ENSMUSP00000042512; ENSMUSP00000152018; ENSMUSP00000151776; |
| Ensembl nucleotide ID | ENSMUSG00000036602 |
| Gene name | ALX homeobox protein 1 |
| Gene symbol | Alx1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 9847249 |
| Functional description | Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:12929931). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:8673125). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (By similarity). |
| Sequence | MEFLSEKFAL KSPPSKNSDF YMGTGGALEH VMETLDNESF YGKATAGKCV QAFGPLPRAE 60 HHVRLDRTSP CQDSSVNYGI TKVEGQPLHT ELNRAMDNCN NLRMSPVKGM PEKSELDELG 120 DKCDSNVSSS KKRRHRTTFT SLQLEELEKV FQKTHYPDVY VREQLALRTE LTEARVQVWF 180 QNRRAKWRKR ERYGQIQQAK SHFAATYDIS VLPRTDSYPQ IQNNLWAGNA SGGSVVTSCM 240 LPRDASSCMT PYSHSPRTDS SYTGFSNHQN QFSHVPLNNF FTDSLLTGAT NGHAFETKPE 300 FERRSSSIAV LRMKAKEHTA NISWAM 326 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | ALX1 | 102168422 | A0A452G2P5 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | ALX1 | 8092 | Q15699 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Alx1 | 216285 | Q8C8B0 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | ALX1 | 452109 | H2Q6K1 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | ALX1 | 100525700 | A0A287AYX1 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | ALX1 | 100354176 | G1SWL0 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Alx1 | 25401 | Q63087 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | alx1 | 565176 | Q1LVQ7 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | ISO |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA |
| GO:0003700 | DNA-binding transcription factor activity | ISO |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0042803 | protein homodimerization activity | ISO |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0001755 | neural crest cell migration | IEA |
| GO:0001843 | neural tube closure | IMP |
| GO:0009952 | anterior/posterior pattern specification | IGI |
| GO:0010718 | positive regulation of epithelial to mesenchymal transition | ISS |
| GO:0010718 | positive regulation of epithelial to mesenchymal transition | ISO |
| GO:0014031 | mesenchymal cell development | IMP |
| GO:0030326 | embryonic limb morphogenesis | IGI |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045892 | negative regulation of transcription, DNA-templated | IBA |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISS |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0048704 | embryonic skeletal system morphogenesis | IGI |
| GO:0048704 | embryonic skeletal system morphogenesis | IBA |
| GO:0060021 | roof of mouth development | IGI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005667 | transcription factor complex | IDA |
| GO:0005794 | Golgi apparatus | ISO |
| GO:0016604 | nuclear body | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|