PTF1A

Pancreas transcription factor 1 subunit alpha is a protein that in humans is encoded by the PTF1A gene.^[5][6]

PTF1A
Identifiers
Aliases	PTF1A, PACA, PAGEN2, PTF1-p48, bHLHa29, pancreas specific transcription factor, 1a, p48, pancreas associated transcription factor 1a
External IDs	OMIM: 607194; MGI: 1328312; HomoloGene: 10304; GeneCards: PTF1A; OMA:PTF1A - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p12.2 Start 23,192,312 bp[1] End 23,194,245 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 A3 Start 19,450,474 bp[2] End 19,452,312 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas islet of Langerhans gonad body of stomach right testis left testis Brodmann area 9 fundus putamen nucleus accumbens Top expressed in pyloric antrum urethra female urethra male urethra rhombic lip gray matter layer of cerebellum medial ganglionic eminence epithelium of stomach pancreatic acinus islet of Langerhans More reference expression data BioGPS n/a
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding sequence-specific DNA binding protein dimerization activity DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding E-box binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component intracellular anatomical structure nucleus cytoplasm transcription regulator complex Biological process cell differentiation cell fate commitment hindbrain development transcription by RNA polymerase II cerebellum development transcription, DNA-templated nervous system development generation of neurons multicellular organism development positive regulation of transcription, DNA-templated retina morphogenesis in camera-type eye retinoic acid receptor signaling pathway tissue development pancreas development neuron fate commitment positive regulation of transcription by RNA polymerase II regulation of neural retina development exocrine pancreas development retina layer formation amacrine cell differentiation regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 256297 19213 Ensembl ENSG00000168267 ENSMUSG00000026735 UniProt Q7RTS3 Q9QX98 RefSeq (mRNA) NM_178161 NM_018809 RefSeq (protein) NP_835455 NP_061279 Location (UCSC) Chr 10: 23.19 – 23.19 Mb Chr 2: 19.45 – 19.45 Mb PubMed search [3] [4]
Wikidata
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Function

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 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.^[6]