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Pdx1 Gene Detail
Summary
  • Symbol
    Pdx1
  • Name
    pancreatic and duodenal homeobox 1
  • Synonyms
    IDX-1, Ipf1, IPF-1, Mody4, pdx-1, STF-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102851
    NCBI Gene: 18609
  • Gene Overview
    MyGene.info: PDX1
Location & Maps
more
  • Sequence Map
    Chr5:147269959-147275848 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5890 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 86.84 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    PDX1, pancreatic and duodenal homeobox 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PDX1, pancreatic and duodenal homeobox 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GSF, IDX-1, IPF1, IUF1, MODY4, PAGEN1, PDX-1, STF-1
  • Links
    NCBI Gene ID: 3651
    neXtProt AC: NX_P52945

  • Chr Location
    13q12.1; chr13:27919994-27926314 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 175
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PDX1
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Pdx1 mouse models; 4 with human PDX1 associations

Human Disease Mouse Models
       Maturity-Onset Diabetes of the Young, Type 4; MODY4   OMIM: 606392 View 1 model
       Diabetes Mellitus, Insulin-Dependent; IDDM   OMIM: 222100 View 1 model
Maturity-Onset Diabetes of the Young; MODY   OMIM: 606391 View 1 model
       Diabetes Mellitus, Noninsulin-Dependent; NIDDM   OMIM: 125853 View 1 model
Diabetes Mellitus, Permanent Neonatal; PNDM   OMIM: 606176
Pancreatic Agenesis 1; PAGEN1   OMIM: 260370
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    65 phenotypes from 9 alleles in 13 genetic backgrounds
    34 phenotypes from multigenic genotypes
    83 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.
  • All Mutations and Alleles
    16
  • Gene trapped
    1
  • Targeted
    15
  • Incidental Mutations
    APF , CvDC
Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal pancreatic and liver development, and increased plasma glucose levels. Mice heterozygous for a knock-out allele exhibit abnormal pancreatic development and abnormal glucose homeostasis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037552 VEGA Gene Model | MGI Sequence Detail 5890 C57BL/6J ±  kb
transcript OTTMUST00000096808 VEGA | MGI Sequence Detail 2158 Not Applicable  
polypeptide OTTMUSP00000054127 VEGA | MGI Sequence Detail 284 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    10 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 33
    Genomic 1
    cDNA 18
    Primer pair 13
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-11442, MGD-MRK-23684
References
more
  • Summaries
    All 440
    Developmental Gene Expression 314
    Diseases 5
    Gene Ontology 30
    Phenotypes 83
  • Earliest
    J:15273 Ohlsson H, et al., IPF1, a homeodomain-containing transactivator of the insulin gene. EMBO J. 1993 Nov;12(11):4251-9
  • Latest
    J:229891 Xuan S, et al., GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling. Development. 2016 Mar 1;143(5):780-6

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory