Tag | Content |
---|---|
Uniprot ID | P78337; A8K3M0; D3DQB0; O14677; O60425; Q9BTI5; |
Entrez ID | 5307 |
Genbank protein ID | AAB65251.1; EAW62226.1; AAH03685.1; AAC17733.1; AAH09412.1; EAW62227.1; BAF83324.1; AAC51126.1; |
Genbank nucleotide ID | NM_002653.4 |
Ensembl protein ID | ENSP00000265340; ENSP00000427542; |
Ensembl nucleotide ID | ENSG00000069011 |
Gene name | Pituitary homeobox 1 |
Gene symbol | PITX1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb. |
Sequence | MDAFKGGMSL ERLPEGLRPP PPPPHDMGPA FHLARPADPR EPLENSASES SDTELPEKER 60 GGEPKGPEDS GAGGTGCGGA DDPAKKKKQR RQRTHFTSQQ LQELEATFQR NRYPDMSMRE 120 EIAVWTNLTE PRVRVWFKNR RAKWRKRERN QQLDLCKGGY VPQFSGLVQP YEDVYAAGYS 180 YNNWAAKSLA PAPLSTKSFT FFNSMSPLSS QSMFSAPSSI SSMTMPSSMG PGAVPGMPNS 240 GLNNINNLTG SSLNSAMSPG ACPYGTPASP YSVYRDTCNS SLASLRLKSK QHSSFGYGGL 300 QGPASGLNAC QYNS 314 |
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.