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Ptf1a
Gene Detail
 Symbol
Name
ID
Ptf1a
pancreas specific transcription factor, 1a
MGI:1328312
Synonyms bHLHa29, PTF1-p48
Feature Type protein coding gene
Genetic Map
Chromosome 2
13.37 cM, cytoband A2
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:19445663-19447501 bp, + strand
From VEGA annotation of GRCm38

  1839 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10304  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Gene Tree: Ptf1a

Human
homologs
Human Homolog PTF1A, pancreas specific transcription factor, 1a
NCBI Gene ID 256297
neXtProt AC  NX_Q7RTS3
Human Synonyms  bHLHa29, PACA, PAGEN2, PTF1-p48
Human Chr (Location)  10p12.2; chr10:23192531-23194252 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human PTF1A
Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Targeted(15)
Incidental mutations (data from APF )
 
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.
 
Alleles Annotated to Human Diseases(2)   
Interactions
Ptf1a interacts with 52 markers (Mir18, Mir18b, Mir22, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process amacrine cell differentiation, cell differentiation, ...
Component cytoplasm, intracellular, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (122 records)
Data Summary: Results (220)    Tissues (125)    Images (67)
Theiler Stages: 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 17
RNA in situ 172
Northern blot 11
RT-PCR 20
cDNA source data(11)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(19) cDNA(13) Primer pair(5) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000011489 (Evidence)
Ensembl Gene ModelENSMUSG00000026735 (Evidence)
Entrez Gene19213 (Evidence)
DFCITC1589007, TC1633255, TC1709651
DoTSDT.55153941, DT.97375454
Consensus CDS ProjectCCDS15715.1
International Mouse Knockout Project StatusPtf1a
Sequences
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 sequences
All sequences(26) RefSeq(2) UniProt(2)
Polymorphisms SNPs within 2kb(24 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Protein Ontology PR:000013418 pancreas transcription factor 1 subunit alpha
References (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:209044 El-Gohary Y, et al., A smad signaling network regulates islet cell proliferation. Diabetes. 2014 Jan;63(1):224-36
All references(250)
Disease annotation references (1)

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
08/26/2014
MGI 5.19
The Jackson Laboratory