Ptf1a pancreas specific transcription factor, 1a [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ptf1aprovided by MGI
Official Full Name: pancreas specific transcription factor, 1aprovided by MGI
Primary source: MGI:MGI:1328312
See related: Ensembl:ENSMUSG00000026735 AllianceGenome:MGI:1328312
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PTF1p48; bHLHa29; PTF1-p48
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and chromatin binding activity. Involved in several processes, including neural retina development; regulation of neural retina development; and retinoic acid receptor signaling pathway. Acts upstream of or within several processes, including pancreas development; positive regulation of transcription by RNA polymerase II; and retina morphogenesis in camera-type eye. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; epidermis; eye; foregut-midgut junction; and genitourinary system. Human ortholog(s) of this gene implicated in pancreatic agenesis. Orthologous to human PTF1A (pancreas associated transcription factor 1a). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in small intestine adult (RPKM 8.1), stomach adult (RPKM 4.1) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 13.37 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (19450474..19452312)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (19445663..19447501)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ptf1a expression is necessary for correct targeting of spiral ganglion neurons within the cochlear nuclei.
Title: Ptf1a expression is necessary for correct targeting of spiral ganglion neurons within the cochlear nuclei.
Positive autofeedback regulation of Ptf1a transcription generates the levels of PTF1A required to generate itch circuit neurons.
Title: Positive autofeedback regulation of Ptf1a transcription generates the levels of PTF1A required to generate itch circuit neurons.
Study show that necrotizing enterocolitis in neonate mice is accompanied by elevation of IL-23 and IL-22 and decreased production of pancreatic enzymes. Mechanistically, IL-22 acts directly at the level of pancreatic acinar cells to decrease expression of the PTF1a. These results show that augmented production of IL-23 and IL-22 in early life has a negative impact on pancreatic enzyme secretion and food absorption.
Title: Interleukin 22 disrupts pancreatic function in newborn mice expressing IL-23.
forebrain Ptf1a is one of the earliest regulators for sexual differentiation of the brain.
Title: Forebrain Ptf1a Is Required for Sexual Differentiation of the Brain.
The homozygous model helps clarify the role PTF1A has on the homeostasis and pathogenesis of exocrine pancreas in mice.
Title: Ptf1a inactivation in adult pancreatic acinar cells causes apoptosis through activation of the endoplasmic reticulum stress pathway.
PTF1a induced gene expression of digestive enzymes and acinar-specific transcription factors.
Title: Induced PTF1a expression in pancreatic ductal adenocarcinoma cells activates acinar gene networks, reduces tumorigenic properties, and sensitizes cells to gemcitabine treatment.
Directed pancreatic acinar differentiation of mouse embryonic stem cells via embryonic signalling molecules and exocrine transcription factors.
Title: Directed pancreatic acinar differentiation of mouse embryonic stem cells via embryonic signalling molecules and exocrine transcription factors.
non-neural progenitor transcription factor Ptf1a alone is sufficient to directly reprogram mouse and human fibroblasts into self-renewable induced neural stem cells capable of differentiating into functional neurons, astrocytes and oligodendrocytes, and improving cognitive dysfunction of Alzheimer's disease mouse models when transplanted
Title: Direct reprogramming of fibroblasts into neural stem cells by single non-neural progenitor transcription factor Ptf1a.
We crossed Ptf1a(Cre/+) ;Kras(G12D/+) mice with JNK1(-/-) mice to generate Ptf1a(Cre/+) ;Kras(G12D/+) ;JNK1(-/-) (Kras;JNK1(-/-) ) mice. Tumor weight was significantly lower in Kras;JNK1(-/-) mice than in Kras;JNK1(+/-) mice, whereas histopathological features were similar.we concluded that inhibition of activated JNK in pancreatic tumor stroma could be a potential therapeutic target to increase Ccl20 secretion
Title: c-Jun N-terminal kinase in pancreatic tumor stroma augments tumor development in mice.
Ptf1a is regulated by active and repressive inputs integrated through multiple sequence elements within a highly conserved sequence downstream of the Ptf1a gene.
Title: Regulating the dorsal neural tube expression of Ptf1a through a distal 3' enhancer.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (18) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ptf1a (e-PCR), detects polymorphism
- UniSTS:546562

Ptf1a (e-PCR), detects polymorphism
- UniSTS:274187

Ptf1a (e-PCR), detects polymorphism
- UniSTS:516532

PMC317250P1 (e-PCR)
- UniSTS:273084

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within amacrine cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amacrine cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebellum development	ISO Inferred from Sequence Orthology more info
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in exocrine pancreas development	ISO Inferred from Sequence Orthology more info
involved_in generation of neurons	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within generation of neurons	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hindbrain development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate commitment	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pancreas development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of neural retina development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinoic acid receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in tissue development	ISO Inferred from Sequence Orthology more info
acts_upstream_of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: pancreas transcription factor 1 subunit alpha

Names: bHLH transcription factor p48; p48 DNA-binding subunit of transcription factor PTF1; pancreas transcription factor1 p48 subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018809.2 → NP_061279.2 pancreas transcription factor 1 subunit alpha

See identical proteins and their annotated locations for NP_061279.2

Status: VALIDATED

Source sequence(s)

AK007922, AL928806

Consensus CDS

CCDS15715.1

UniProtKB/Swiss-Prot

Q9QX98, Q9QYF5, Q9QYF6

UniProtKB/TrEMBL

A2ATA7

Related

ENSMUSP00000028068.3, ENSMUST00000028068.3

Conserved Domains (1) summary

cd00083
Location:162 → 217

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...