PTF1A

Pancreas transcription factor 1 subunit alpha is a protein that in humans is encoded by the PTF1A gene.

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
Gene location (Human) Chr. Chromosome 10 (human) Band 10p12.2 Start 23,192,312 bp End 23,194,245 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 A3 Start 19,450,474 bp End 19,452,312 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas islet of Langerhans body of stomach Brodmann area 9 fundus putamen nucleus accumbens caudate nucleus prefrontal cortex superior frontal gyrus Top expressed in pyloric antrum urethra female urethra male urethra rhombic lip medial ganglionic eminence epithelium of stomach pancreatic acinus islet of Langerhans meninges 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
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.

Further reading

• Sommer L, Hagenbüchle O, Wellauer PK, Strubin M (Nov 1991). "Nuclear targeting of the transcription factor PTF1 is mediated by a protein subunit that does not bind to the PTF1 cognate sequence". Cell. 67 (5): 987–94. doi:10.1016/0092-8674(91)90371-5. PMID 1720355. S2CID 1315068.
• Roux E, Strubin M, Hagenbüchle O, Wellauer PK (Oct 1989). "The cell-specific transcription factor PTF1 contains two different subunits that interact with the DNA". Genes & Development. 3 (10): 1613–24. doi:10.1101/gad.3.10.1613. PMID 2612907.
• Krapp A, Knöfler M, Frutiger S, Hughes GJ, Hagenbüchle O, Wellauer PK (Aug 1996). "The p48 DNA-binding subunit of transcription factor PTF1 is a new exocrine pancreas-specific basic helix-loop-helix protein". The EMBO Journal. 15 (16): 4317–29. doi:10.1002/j.1460-2075.1996.tb00806.x. PMC 452157. PMID 8861960.
• Krapp A, Knöfler M, Ledermann B, Bürki K, Berney C, Zoerkler N, Hagenbüchle O, Wellauer PK (Dec 1998). "The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas". Genes & Development. 12 (23): 3752–63. doi:10.1101/gad.12.23.3752. PMC 317250. PMID 9851981.
• Adell T, Gómez-Cuadrado A, Skoudy A, Pettengill OS, Longnecker DS, Real FX (Mar 2000). "Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells". Cell Growth & Differentiation. 11 (3): 137–47. PMID 10768861.
• Kawaguchi Y, Cooper B, Gannon M, Ray M, MacDonald RJ, Wright CV (Sep 2002). "The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors". Nature Genetics. 32 (1): 128–34. doi:10.1038/ng959. PMID 12185368. S2CID 21627948.
• McLellan AS, Langlands K, Kealey T (Dec 2002). "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening". Gene Expression Patterns. 2 (3–4): 329–35. doi:10.1016/S0925-4773(02)00390-8. PMID 12617822.
• Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS (Dec 2004). "Mutations in PTF1A cause pancreatic and cerebellar agenesis". Nature Genetics. 36 (12): 1301–5. doi:10.1038/ng1475. PMID 15543146. S2CID 6820665.
• Beres TM, Masui T, Swift GH, Shi L, Henke RM, MacDonald RJ (Jan 2006). "PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L". Molecular and Cellular Biology. 26 (1): 117–30. doi:10.1128/MCB.26.1.117-130.2006. PMC 1317634. PMID 16354684.
• Yamada M, Terao M, Terashima T, Fujiyama T, Kawaguchi Y, Nabeshima Y, Hoshino M (Oct 2007). "Origin of climbing fiber neurons and their developmental dependence on Ptf1a". The Journal of Neuroscience. 27 (41): 10924–34. doi:10.1523/JNEUROSCI.1423-07.2007. PMC 6672857. PMID 17928434.