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Pitx1
Gene Detail
Symbol

Name
ID
Pitx1
paired-like homeodomain transcription factor 1
MGI:107374
Synonyms
Bft, Potx, P-OTX, Ptx1
Feature Type
protein coding gene
Genetic Map
Chromosome 13
30.06 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr13:55825051-55836192 bp, - strand
From VEGA annotation of GRCm38

  11142 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20584  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: homeobox protein, Pitx/Unc30 types
Gene Tree: Pitx1

Human
homologs
Human Homolog PITX1, paired-like homeodomain 1
NCBI Gene ID 5307
neXtProt AC  NX_P78337
Human Synonyms  BFT, CCF, LBNBG, POTX, PTX1
Human Chr (Location)  5q31.1; chr5:135027734-135034274 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human PITX1
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from APF )
 
Homozygous targeted null mutants have defects of hindlimbs, pelvis, mandible and submandibular gland, and decreased numbers of anterior pituitary cell types. Some mutants die in utero, but most die at birth, probably as a consequence of cleft palate.
 
Human Diseases Modeled Using Mouse Pitx1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Pitx1 interacts with 120 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (88 records)
Data Summary: Results (521)    Tissues (270)    Images (103)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 10
RNA in situ 479
Northern blot 12
Western blot 6
RT-PCR 14
cDNA source data(27)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(45) Genomic(1) cDNA(31) Primer pair(5) Other(8)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000037718 (Evidence)
Ensembl Gene ModelENSMUSG00000021506 (Evidence)
Entrez Gene18740 (Evidence)
UniGene135195
DFCITC1584288
DoTSDT.55160802
NIA Mouse Gene IndexU034826
Consensus CDS ProjectCCDS26556.1
International Mouse Knockout Project StatusPitx1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037718 VEGA Gene Model | MGI Sequence Detail 11142 C57BL/6J ±  kb
transcript OTTMUST00000097411 VEGA | MGI Sequence Detail 2451 Not Applicable 
polypeptide OTTMUSP00000054634 VEGA | MGI Sequence Detail 315 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(6) UniProt(5)
Polymorphisms
RFLP(2) : SNPs within 2kb(13 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017970 Homeobox, conserved site
InterPro IPR016233 Homeobox protein Pitx/unc30
InterPro IPR001356 Homeodomain
InterPro IPR009057 Homeodomain-like
InterPro IPR003654 OAR domain
Protein Ontology PR:000012760 pituitary homeobox 1
References
(Earliest) J:33258 Lamonerie T, et al., Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene. Genes Dev. 1996 May 15;10(10):1284-95
(Latest) J:214763 He F, et al., Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect. Dev Biol. 2014 Jul 15;391(2):170-81
All references(135)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-35841, MGD-MRK-35889

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory