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(4) : Targeted(4)
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 in Mice Using Pitx1 (2)    Mutations Annotated to Human Diseases (2)   

Interactions

Pitx1 interacts with 120 markers (Mir1a-1, Mir1a-2, Mir1b, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (29 annotations)

Process	branchiomeric skeletal muscle development, cartilage development, ...
Component	cytoplasm, nucleolus, ...
Function	DNA binding, RNA polymerase II core promoter proximal region sequence-specific DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (88 records)

Data Summary: Results (522)    Tissues (270)    Images (104)    Tissue x Stage Matrix (view)

Assay Type	Results
Immunohistochemistry	10
RNA in situ	480
Northern blot	12
Western blot	6
RT-PCR	14

cDNA source data(27)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(46) Genomic(1) cDNA(31) Primer pair(5) Other(9)
Microarray probesets(4)

Other database
links

VEGA Gene Model	OTTMUSG00000037718 (Evidence)
Ensembl Gene Model	ENSMUSG00000021506 (Evidence)
Entrez Gene	18740 (Evidence)
UniGene	135195
DFCI	TC1584288
DoTS	DT.55160802
NIA Mouse Gene Index	U034826
Consensus CDS Project	CCDS26556.1
International Mouse Knockout Project Status	Pitx1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037718	VEGA Gene Model | MGI Sequence Detail	11142	C57BL/6J
transcript	OTTMUST00000097411	VEGA | MGI Sequence Detail	2451	Not Applicable
polypeptide	OTTMUSP00000054634	VEGA | MGI Sequence Detail	315	Not Applicable

All sequences(30) RefSeq(6) UniProt(5)

Polymorphisms

RFLP(2) : SNPs within 2kb(13 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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