About   Help   FAQ
Pitx1 Gene Detail
Summary
  • Symbol
    Pitx1
  • Name
    paired-like homeodomain transcription factor 1
  • Synonyms
    Bft, Potx, P-OTX, Ptx1
  • Feature Type
    protein coding gene
  • IDs
    MGI:107374
    NCBI Gene: 18740
  • Gene Overview
    MyGene.info: PITX1
Location & Maps
more
  • Sequence Map
    Chr13:55825051-55836192 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      11142 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 30.06 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    PITX1, paired like homeodomain 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PITX1, paired like homeodomain 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BFT, CCF, LBNBG, POTX, PTX1
  • Links
    NCBI Gene ID: 5307
    neXtProt AC: NX_P78337
    UniProt: P78337

  • Chr Location
    5q31.1; chr5:135027734-135034274 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Pitx1 mouse models; 1 with human PITX1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    44 phenotypes from 2 alleles in 3 genetic backgrounds
    16 phenotypes from multigenic genotypes
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    17
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    613
  • Tissues
    313
  • cDNA Data
    31
  • Literature Summary
    94
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    13 from dbSNP Build 142
  • RFLP
    2
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 43
    Genomic 1
    cDNA 35
    Primer pair 6
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-35841, MGD-MRK-35889
References
more
  • Summaries
    All 142
    Developmental Gene Expression 94
    Diseases 1
    Gene Ontology 17
    Phenotypes 14
  • Earliest
    J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
  • Latest
    J:236309 Aires R, et al., Oct4 Is a Key Regulator of Vertebrate Trunk Length Diversity. Dev Cell. 2016 Aug 8;38(3):262-74
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
09/12/2017
MGI 6.10 		The Jackson Laboratory