| Tag | Content |
|---|---|
| Uniprot ID | Q64317 |
| Entrez ID | 13390 |
| Genbank protein ID | AAB40900.1; AAB40899.1; CAB37647.1; AAH79609.1; |
| Genbank nucleotide ID | XM_006498672.3; NM_010053.2; XM_006498671.3; XM_017315305.1; XM_017315311.1; XM_006498673.3; XM_017315307.1; |
| Ensembl protein ID | ENSMUSP00000042413 |
| Ensembl nucleotide ID | ENSMUSG00000041911 |
| Gene name | Homeobox protein DLX-1 |
| Gene symbol | Dlx1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 9187081; 22972697; |
| Functional description | Plays a role as a transcriptional activator or repressor (PubMed:21875655). 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 (By similarity). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (PubMed:21875655). Likely to play a regulatory role in the development of the ventral forebrain (PubMed:1676488). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (PubMed:1676488). |
| 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 SSGKGSGSSA GSYVPSYTSW 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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | DLX1 | 521806 | A6H733 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | DLX1 | E2RFM6 | Canis lupus familiaris | Prediction | More>> | |||
| 1:1 ortholog | DLX1 | 102187006 | A0A452EKR5 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | DLX1 | 100053103 | F6QWX6 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | DLX1 | 1745 | P56177 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Dlx1 | 13390 | Q64317 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | DLX1 | A0A2I3S2E5 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | 100522648 | A0A4X1V5H4 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | DLX1 | 100348143 | G1SK87 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Dlx1 | 296500 | G3V669 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | dlx1a | 30568 | Q98875 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| DLX1 | rs788173G>A | real time-PCR; TDT | 25463899 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IBA |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IC |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA |
| GO:0003677 | DNA binding | IDA |
| GO:0003682 | chromatin binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IGI |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
| GO:0006357 | regulation of transcription by RNA polymerase II | IDA |
| GO:0006357 | regulation of transcription by RNA polymerase II | IGI |
| GO:0009954 | proximal/distal pattern formation | IGI |
| GO:0009954 | proximal/distal pattern formation | IMP |
| GO:0021544 | subpallium development | IGI |
| GO:0021766 | hippocampus development | IGI |
| GO:0021879 | forebrain neuron differentiation | IGI |
| GO:0021882 | regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment | IGI |
| GO:0021892 | cerebral cortex GABAergic interneuron differentiation | IGI |
| GO:0021893 | cerebral cortex GABAergic interneuron fate commitment | IGI |
| GO:0030154 | cell differentiation | IMP |
| GO:0030154 | cell differentiation | IBA |
| GO:0030514 | negative regulation of BMP signaling pathway | ISS |
| GO:0030514 | negative regulation of BMP signaling pathway | ISO |
| GO:0042475 | odontogenesis of dentin-containing tooth | IGI |
| GO:0043524 | negative regulation of neuron apoptotic process | IMP |
| GO:0045597 | positive regulation of cell differentiation | IMP |
| GO:0045746 | negative regulation of Notch signaling pathway | IGI |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISS |
| 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 | IMP |
| GO:0046533 | negative regulation of photoreceptor cell differentiation | IMP |
| GO:0048706 | embryonic skeletal system development | IGI |
| GO:0048706 | embryonic skeletal system development | IMP |
| GO:0048715 | negative regulation of oligodendrocyte differentiation | IGI |
| GO:0071560 | cellular response to transforming growth factor beta stimulus | ISS |
| GO:0071560 | cellular response to transforming growth factor beta stimulus | ISO |
| GO:0071773 | cellular response to BMP stimulus | ISS |
| GO:0071773 | cellular response to BMP stimulus | ISO |
| GO:1902871 | positive regulation of amacrine cell differentiation | IMP |
| GO:1903845 | negative regulation of cellular response to transforming growth factor beta stimulus | ISS |
| GO:1903845 | negative regulation of cellular response to transforming growth factor beta stimulus | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF00046 | Homeodomain |