PITX1 paired-like homeodomain 1 [Homo sapiens (human)]
| Gene Symbol | PITX1 |
| Entrez Gene ID | 5307 |
| Full Name | paired-like homeodomain 1 |
| Synonyms | BFT, CCF, POTX, PTX1 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
5 5q31 |
| Summary | This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq]. |
| Disorder | MIM: 602149 Clubfoot, congenital, 119800 (3) |
| mRNA | NM_002653, 152963643 |
| Protein | NP_002644, 152963644 |
| Product | pituitary homeobox 1 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | PITX1 | NP_002644.4 |
| Pan troglodytes (chimpanzee) | PITX1 | XP_001168135.1 |
| Canis lupus familiaris (dog) | PITX1 | XP_850773.1 |
| Mus musculus (house mouse) | Pitx1 | NP_035227.1 |
| Rattus norvegicus (Norway rat) | Pitx1 | NP_446076.1 |
| Gallus gallus (chicken) | PITX1 | XP_001233836.1 |
| Danio rerio (zebrafish) | pitx1 | NP_001035436.3 |
| ID | Name | Evidence |
| GO:0001501 | skeletal system development | TAS |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0007275 | multicellular organismal development | IEA |
| GO:0009653 | anatomical structure morphogenesis | TAS |
| GO:0014707 | branchiomeric skeletal muscle development | IEA |
| GO:0021983 | pituitary gland development | IEA |
| GO:0035116 | embryonic hindlimb morphogenesis | IEA |
| GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | IEA |
| GO:0048625 | myoblast cell fate commitment | IEA |
| GO:0051216 | cartilage development | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005667 | transcription factor complex | IEA |
| GO:0005730 | nucleolus | IDA |
Function
| ID | Name | Evidence |
| GO:0000988 | protein binding transcription factor activity | IEA |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IEA |
| GO:0043565 | sequence-specific DNA binding | IEA |
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