| Tag | Content |
|---|---|
| Uniprot ID | Q5SQQ9; B1AVW5; Q6ZSX0; |
| Entrez ID | 11023 |
| Genbank protein ID | AAI01695.1; EAW49433.1; AAI01697.1; BAC86826.1; |
| Genbank nucleotide ID | NM_199131.2; NM_001112704.1; |
| Ensembl protein ID | ENSP00000277905; ENSP00000358207; |
| Ensembl nucleotide ID | ENSG00000148704 |
| Gene name | Ventral anterior homeobox 1 |
| Gene symbol | VAX1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 23463464; 26602496; 22095910; |
| Functional description | Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity). |
| Sequence | MFGKPDKMDV RCHSDAEAAR VSKNAHKESR ESKGAEGNLP AAFLKEPQGA FSASGAAEDC 60 NKSKSNSAAD PDYCRRILVR DAKGSIREII LPKGLDLDRP KRTRTSFTAE QLYRLEMEFQ 120 RCQYVVGRER TELARQLNLS ETQVKVWFQN RRTKQKKDQG KDSELRSVVS ETAATCSVLR 180 LLEQGRLLSP PGLPALLPPC ATGALGSALR GPSLPALGAG AAAGSAAAAA AAAPGPAGAA 240 SPHPPAVGGA PGPGPAGPGG LHAGAPAAGH SLFSLPVPSL LGSVASRLSS APLTMAGSLA 300 GNLQELSARY LSSSAFEPYS RTNNKEGAEK KALD 334 |
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.