| Nomenclature | Genomic Location |
| Symbol | Pitx1 | Chromosome | 2 |
| Name | paired-like homeodomain transcription factor 1 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 2: 85 Mbp |
| Molecular Function |
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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.
Acts as a transcriptional activator by binding to promoter sequences with a TAAT/GCC core motif.
Can independently activate and synergize with PIT-1 on pituitary-specific target gene promoters, thus may subserve functions in generating both
precursor and specific cell phenotypes in the anterior pituitary gland and in several other organs. Can activate pituitary transcription of the proopiomelanocortin gene.
Molecular Function Terms:
binding
nucleic acid binding
DNA binding
sequence-specific DNA binding
nucleic acid binding transcription factor activity
sequence-specific DNA binding transcription factor activity
protein binding transcription factor activity
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| Human Disease Association |
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Defects in PITX1 are a cause of congenital clubfoot (CCF) [MIM:119800]; also known as talipes equinovarus (TEV).
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus
(i.e. inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities.
Clubfoot may occur in isolation or as part of a syndrome. Clubfoot appears to be a multifactorial trait.
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........................................................ATGA
5 ACTCTATGAGGGATCCATTAAACATAGACCATCACCACGTAACCGGGAATAAACTCGCAT
65 CCGCGCACCCCACGGCTCTGGCGATGGCCTCCACTCTGCAGCCGCTGCAGCGGTCCGTGG
125 ACTCTAAGCACCGGTTAGAGGTGCACACGGTGTCGGACACGTCCAGTCCGGAGTCTGTCG
185 AAAAAGAAAAGAACCTGAATAAGAACGACGACTCCTCGGATGACCCTTCAAAAAAGAAGC
245 GGCAGCGGCGGCAGAGGACTCACTTTACCAGCCAGCAGCTGCAGGAGCTGGAGGCCACCT
305 TCCAGCGGAATCGCTACCCGGACATGAGCACGAGGGAGGAGATAGCCGTGTGGACCAACC
365 TCACGGAGGCCCGGGTCAGGGTTTGGTTCAAGAACCGACGAGCCAAGTGGAGGAAACGCG
425 AGAGGAACCAACAAGCCGAGTTGTGCAAGAACGGCTTCGGCCCGCAGTTCAACGGACTCA
485 TGCAGCCCTACGAAGACATGTACCCGAGCTACACGTACAACAACTGGGCCGCCAAGGGCC
545 TGACGTCGGCCTCTCTGTCCACCAAAAGCTTCCCTTTCTTCAACTCCATGAACGTCAACC
605 CGCTGTCCTCGCAGACCATGTTCTCGCCGTCCAACTCCATATCCTCCATGACGTCCAGCA
665 TGGTGCCGTCGGCGGTCACTGGCGTGCCGGGCTCCAGCCTCAACAGCCTCAATAACTTGA
725 ACAACCTCAGTAACCCGTCTCTCAACTCGGGGGTGCCCACCTCGGCGTGTCCCTACGCGC
785 CCCCGACCCCGCCCTACGTGTACAGGGACACTTGCAACTCCAGCCTGGCCAGCCTGAGAC
845 TGAAAGCCAAGCAGCACTCGAGTTTTGGATACGCCAGTGTGCAGAATCCGGCCACTAACC
905 TGAGCGCTTGCCAGTACGCCGTGGACAGACCCGTCTAA
| Predicted Protein Product |
LPQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNLQMDLCK
SSYLPKFSGLMQPYEDMYPTYSYNNWPNKGLAPAPLSSKNFTFFNSMSPLTSQSMFSAPS
SISSMTMAPGMGPPAAPPGLNNLNGIGASGINSGMSPSACPYGPPGSPYSVYR
| Protein Alignment to Mouse |
sp|P70314|PITX1_MOUSE Pituitary homeobox 1 OS=Mus musculus GN=Pitx1 PE=2 SV=2
MGI:107374 Pitx1 paired-like homeodomain transcription factor 1 (Chr 13)
Length = 315
Score = 493 (178.6 bits), Expect = 8.4e-48, P = 8.4e-48
Identities = 91/110 (82%), Positives = 99/110 (90%)
Query: 3 QLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNLQMDLCKSS 62
QLQELEATFQRNRYPDMS REEIAVWTNLTE RVRVWFKNRRAKWRKRERN Q+DLCK
Sbjct: 101 QLQELEATFQRNRYPDMSMREEIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGG 160
Query: 63 YLPKFSGLMQPYEDMYPT-YSYNNWPNKGLAPAPLSSKNFTFFNSMSPLT 111
Y+P+FSGL+QPYED+Y YSYNNW K LAPAPLS+K+FTFFNSMSPL+
Sbjct: 161 YVPQFSGLVQPYEDVYAAGYSYNNWAAKSLAPAPLSTKSFTFFNSMSPLS 210
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