Gene: PITX1

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)