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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:55972864-55984005 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 30.06 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    13 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107374
 protein coding gene Chr13:55972857-55984005 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020612
 protein coding gene Chr13:55334176-55345176 (-)
A/J MGP_AJ_G0020566
 protein coding gene Chr13:53282796-53293936 (-)
AKR/J MGP_AKRJ_G0020544
 protein coding gene Chr13:54869291-54880436 (-)
BALB/cJ MGP_BALBcJ_G0020562
 protein coding gene Chr13:53519460-53530964 (-)
C3H/HeJ MGP_C3HHeJ_G0020361
 protein coding gene Chr13:54673768-54686936 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020996
 protein coding gene Chr13:56996761-57009351 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018578
 protein coding gene Chr13:51216222-51227402 (-)
CAST/EiJ MGP_CASTEiJ_G0019875
 protein coding gene Chr13:54784368-54796590 (-)
CBA/J MGP_CBAJ_G0020321
 protein coding gene Chr13:59195229-59210985 (-)
DBA/2J MGP_DBA2J_G0020444
 protein coding gene Chr13:52834224-52845303 (-)
FVB/NJ MGP_FVBNJ_G0020423
 protein coding gene Chr13:52302159-52313572 (-)
LP/J MGP_LPJ_G0020520
 protein coding gene Chr13:55590327-55603122 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020452
 protein coding gene Chr13:58638118-58650512 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021039
 protein coding gene Chr13:54445144-54456287 (-)
PWK/PhJ MGP_PWKPhJ_G0019631
 protein coding gene Chr13:52860034-52871192 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019458
 protein coding gene Chr13:53366727-53377860 (-)
WSB/EiJ MGP_WSBEiJ_G0019937
 protein coding gene Chr13:54812634-54824927 (-)



Homology
more
  • Human Ortholog
    PITX1, paired like homeodomain 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PITX1, paired like homeodomain 1
  • 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
    53 phenotypes from 3 alleles in 4 genetic backgrounds
    15 phenotypes from multigenic genotypes
    28 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
    42
  • GO References
    17
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
protein-containing complex
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
    1464
  • Tissues
    347
  • cDNA Data
    33
  • Literature Summary
    117
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021506 Ensembl Gene Model | MGI Sequence Detail 11142 C57BL/6J ±  kb
    transcript ENSMUST00000021968 Ensembl | MGI Sequence Detail 2451 Not Applicable  
    polypeptide ENSMUSP00000021968 Ensembl | MGI Sequence Detail 315 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      Genomic 1
      cDNA 37
      Primer pair 8
      Other 21

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-35841, MGD-MRK-35889
    References
    more
    • Summaries
      All 186
      Developmental Gene Expression 117
      Diseases 1
      Gene Ontology 17
      Phenotypes 28
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:317420 Rouco R, et al., Cell-specific alterations in Pitx1 regulatory landscape activation caused by the loss of a single enhancer. Nat Commun. 2021 Dec 13;12(1):7235
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/22/2022
    MGI 6.22     		The Jackson Laboratory