PTF1A pancreas associated transcription factor 1a [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTF1Aprovided by HGNC
Official Full Name: pancreas associated transcription factor 1aprovided by HGNC
Primary source: HGNC:HGNC:23734
See related: Ensembl:ENSG00000168267 MIM:607194; AllianceGenome:HGNC:23734
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p48; PACA; PAGEN2; bHLHa29; PTF1-p48
Summary: This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]
Expression: Biased expression in pancreas (RPKM 4.5), testis (RPKM 0.5) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (23192312..23194245)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (23211306..23213239)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (23481241..23483174)

Chromosome 10 - NC_000010.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.
Title: Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
Title: Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
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.
Study describes the wide range of gene control by PTF1A that maintains the specific characteristics of pancreatic acinar cell identity and differentiation. PTF1A controls the pancreatic acinar transcription program by direct action at a thousand genes and in collaboration with other less cell type-restricted factors to ensure acinar cell homeostasis and to suppress other cell-type-specific programs.
Title: Transcriptional Maintenance of Pancreatic Acinar Identity, Differentiation, and Homeostasis by PTF1A.
Data show isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation
Title: Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.
The results of this study suggested Ptf1a-dependent cell-fate misspecification as a novel mechanism of human brainstem pathology.
Title: Loss of Ptf1a Leads to a Widespread Cell-Fate Misspecification in the Brainstem, Affecting the Development of Somatosensory and Viscerosensory Nuclei.
PTF1A enhancer mutations have been shown to cause neonatal diabetes associated with pancreatic agenesis
Title: Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
Loss of Ptf1a alone is sufficient to induce acinar-to-ductal metaplasia, potentiate inflammation, and induce a KRAS-permissive, pancreatic ductal adenocarcinoma-like gene expression profile.
Title: The acinar differentiation determinant PTF1A inhibits initiation of pancreatic ductal adenocarcinoma.
The results of the present study do not support the hypothesis that high penetrant mutations in these regions of PTF1A are involved in the development of human VATER/VACTERL association or NTDs
Title: Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.
ata indicate that E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 (TRIP12) promotes proteasomal degradation of pancreas transcription factor 1a (PTF1a)and regulates PTF1a activities.
Title: The E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 targets pancreas transcription factor 1a for proteasomal degradation.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pancreatic agenesis 2 MedGen: C4014737 OMIM: 615935 GeneReviews: Not available	Compare labs
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MedGen: C1836780 OMIM: 609069 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables E-box binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in amacrine cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebellum development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in exocrine pancreas development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron fate commitment	IEA Inferred from Electronic Annotation more info
involved_in pancreas development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neural retina development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in retina layer formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinoic acid receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in tissue development	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription regulator complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: pancreas transcription factor 1 subunit alpha

Names: bHLH transcription factor p48; class A basic helix-loop-helix protein 29; class II bHLH protein PTF1A; exocrine pancreas-specific transcription factor p48; p48 DNA-binding subunit of transcription factor PTF1; pancreas specific transcription factor, 1a

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.

Genomic

NG_009798.1 RefSeqGene

Range

4782..6715

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_178161.3 → NP_835455.1 pancreas transcription factor 1 subunit alpha

See identical proteins and their annotated locations for NP_835455.1

Status: REVIEWED

Source sequence(s)

AL139281, BM055347, CK904916

Consensus CDS

CCDS7143.1

UniProtKB/Swiss-Prot

Q7RTS3, Q9HC25

Related

ENSP00000365687.3, ENST00000376504.4

Conserved Domains (1) summary

cd00083
Location:165 → 220

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, ...