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 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, PTF1-p48
Human Chr (Location)		10p12.2; chr10:23481460-23483181 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PTF1A

Alleles and phenotypes

All alleles(10) : Targeted(10)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (32 annotations)

Process	cell differentiation, cell fate commitment, ...
Component	cytoplasm, intracellular, ...
Function	DNA binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (114 records)
Data Summary: Results (167)    Tissues (75)    Images (57)
Theiler Stages: 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	17
RNA in situ	119
Northern blot	11
RT-PCR	20

cDNA source data(11)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(18) cDNA(12) Primer pair(5) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000011489 (Evidence)
Ensembl Gene Model	ENSMUSG00000026735 (Evidence)
Entrez Gene	19213 (Evidence)
DFCI	TC1589007, TC1633255, TC1709651
DoTS	DT.55153941, DT.97375454
Consensus CDS Project	CCDS15715.1
International Mouse Knockout Project Status	Ptf1a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000011489	VEGA Gene Model | MGI Sequence Detail	1839	C57BL/6J
transcript	OTTMUST00000026858	VEGA | MGI Sequence Detail	1508	Not Applicable
polypeptide	OTTMUSP00000012259	VEGA | MGI Sequence Detail	324	Not Applicable

All sequences(26) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(20 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:196394 Zhang H, et al., IL-6 trans-signaling promotes pancreatitis-associated lung injury and lethality. J Clin Invest. 2013 Mar 1;123(3):1019-31
All references(220)