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Ptf1a Gene Detail
Summary
  • Symbol
    Ptf1a
  • Name
    pancreas specific transcription factor, 1a
  • Synonyms
    bHLHa29, PTF1-p48
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328312
    NCBI Gene: 19213
Location & Maps
more
  • Sequence Map
    Chr2:19445663-19447501 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      1839 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PTF1A, pancreas specific transcription factor, 1a
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PTF1A, pancreas specific transcription factor, 1a
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bHLHa29, PACA, PAGEN2, PTF1-p48
  • Links
    NCBI Gene ID: 256297
    neXtProt AC: NX_Q7RTS3

  • Chr Location
    10p12.2; chr10:23192531-23194252 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human PTF1A associations

Human Disease Mouse Models
       Pancreatic Agenesis 2; PAGEN2   OMIM: 615935
Pancreatic and Cerebellar Agenesis; PACA   OMIM: 609069
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 4 alleles in 5 genetic backgrounds
    92 phenotypes from multigenic genotypes
    3 images
    151 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Targeted
    17
  • Transgenic
    1
  • Incidental Mutations
    APF , CvDC
Nullizygous mice show neonatal death, exocrine pancreas and cerebellum agenesis, hypoglycemia and relocation of endocrine cells to the spleen. Knock-in mutations can lead to neonatal death, absent pancreas, altered GABAergic neuronal fate and retinal dysplasia due to misspecified retinal precursors.
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 OTTMUSG00000011489 VEGA Gene Model | MGI Sequence Detail 1839 C57BL/6J ±  kb
transcript OTTMUST00000026858 VEGA | MGI Sequence Detail 1508 Not Applicable  
polypeptide OTTMUSP00000012259 VEGA | MGI Sequence Detail 324 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    24 from dbSNP Build 137
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000013418 pancreas transcription factor 1 subunit alpha
  • InterPro Domains
    IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Molecular
Reagents
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  • All nucleic 20
    cDNA 13
    Primer pair 6
    Other 1

    Microarray probesets 5
References
more
  • Summaries
    All 294
    Developmental Gene Expression 138
    Diseases 6
    Gene Ontology 20
    Phenotypes 151
  • Earliest
    J:50645 Petrucco S, et al., The DNA-binding activity of transcription factor PTF1 parallels the synthesis of pancreas-specific mRNAs during mouse development. Mol Cell Biol. 1990 Jan;10(1):254-64
  • Latest
    J:228228 Bonnavion R, et al., Islet Cells Serve as Cells of Origin of Pancreatic Gastrin-Positive Endocrine Tumors. Mol Cell Biol. 2015 Oct;35(19):3274-83

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory