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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:19450474-19452312 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 13.37 cM, cytoband A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    24 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1328312
 protein coding gene Chr2:19450474-19452312 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025382
 protein coding gene Chr2:17187067-17188905 (+)
A/J MGP_AJ_G0025360
 protein coding gene Chr2:16478938-16480776 (+)
AKR/J MGP_AKRJ_G0025328
 protein coding gene Chr2:17050952-17052790 (+)
BALB/cJ MGP_BALBcJ_G0025355
 protein coding gene Chr2:16537205-16539043 (+)
C3H/HeJ MGP_C3HHeJ_G0025115
 protein coding gene Chr2:16958085-16959923 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025798
 protein coding gene Chr2:17654061-17655899 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023213
 protein coding gene Chr2:15857611-15859437 (+)
CAST/EiJ MGP_CASTEiJ_G0024579
 protein coding gene Chr2:16912896-16914734 (+)
CBA/J MGP_CBAJ_G0025094
 protein coding gene Chr2:18410270-18412108 (+)
DBA/2J MGP_DBA2J_G0025226
 protein coding gene Chr2:16419072-16420910 (+)
FVB/NJ MGP_FVBNJ_G0025189
 protein coding gene Chr2:16223710-16225548 (+)
LP/J MGP_LPJ_G0025313
 protein coding gene Chr2:17004231-17006069 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025220
 protein coding gene Chr2:18357381-18359210 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025856
 protein coding gene Chr2:16988466-16990304 (+)
PWK/PhJ MGP_PWKPhJ_G0024328
 protein coding gene Chr2:16295031-16296869 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024128
 protein coding gene Chr2:17122607-17124445 (+)
WSB/EiJ MGP_WSBEiJ_G0024649
 protein coding gene Chr2:17067068-17068906 (+)



Homology
more
  • Human Ortholog
    PTF1A, pancreas associated transcription factor 1a
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTF1A, pancreas associated transcription factor 1a
  • Synonyms
    bHLHa29, p48, PACA, PAGEN2, PTF1-p48
  • Links
    NCBI Gene ID: 256297
    neXtProt AC: NX_Q7RTS3
    UniProt: Q7RTS3

  • Chr Location
    10p12.2; chr10:23192312-23194245 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PTF1A associations

Human Disease Mouse Models
      
IDs
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
less
  • Phenotype Summary
    26 phenotypes from 4 alleles in 5 genetic backgrounds
    103 phenotypes from multigenic genotypes
    8 images
    411 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.
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
less
  • All GO Annotations
    56
  • GO References
    21
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
    1148
  • Tissues
    204
  • cDNA Data
    12
  • Literature Summary
    193
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19213 NCBI Gene Model | MGI Sequence Detail 1839 C57BL/6J ±  kb
    transcript NM_018809 RefSeq | MGI Sequence Detail 1508 C57BL/6  
    polypeptide Q9QX98 UniProt | EBI | MGI Sequence Detail 324 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000013418 pancreas transcription factor 1 subunit alpha
      (term hierarchy)
    • InterPro Domains
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
    Molecular
    Reagents
    less
    • All nucleic 31
      cDNA 16
      Primer pair 12
      Other 3

      Microarray probesets 5
    References
    more
    • Summaries
      All 606
      Developmental Gene Expression 193
      Diseases 6
      Gene Ontology 21
      Phenotypes 411
    • 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:346387 Yamada M, et al., Childhood cancer mutagenesis caused by transposase-derived PGBD5. Sci Adv. 2024 Mar 22;10(12):eadn4649
    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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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory