PTF1A

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Pancreas transcription factor 1 subunit alpha''' is a protein that in humans is encoded by the ''PTF1A'' gene.<ref name="pmid8703005">{{cite journal | vauthors = Knöfler M, Krapp A, Hagenbüchle O, Wellauer PK | title = Constitutive expression of the gene for the cell-specific p48 DNA-binding subunit of pancreas transcription factor 1 in cultured cells is under control of binding sites for transcription factors Sp1 and alphaCbf | journal = The Journal of Biological Chemistry | volume = 271 | issue = 36 | pages = 21993–2002 | date = Sep 1996 | pmid = 8703005 | doi = 10.1074/jbc.271.36.21993 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PTF1A pancreas specific transcription factor, 1a| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=256297}}</ref>

== 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.<ref name="entrez" />

== References == {{reflist}} {{-}} == Further reading == {{refbegin | 2}} * {{cite journal | vauthors = Sommer L, Hagenbüchle O, Wellauer PK, Strubin M | title = Nuclear targeting of the transcription factor PTF1 is mediated by a protein subunit that does not bind to the PTF1 cognate sequence | journal = Cell | volume = 67 | issue = 5 | pages = 987–94 | date = Nov 1991 | pmid = 1720355 | doi = 10.1016/0092-8674(91)90371-5 | s2cid = 1315068 }} * {{cite journal | vauthors = Roux E, Strubin M, Hagenbüchle O, Wellauer PK | title = The cell-specific transcription factor PTF1 contains two different subunits that interact with the DNA | journal = Genes & Development | volume = 3 | issue = 10 | pages = 1613–24 | date = Oct 1989 | pmid = 2612907 | doi = 10.1101/gad.3.10.1613 | doi-access = free }} * {{cite journal | vauthors = Krapp A, Knöfler M, Frutiger S, Hughes GJ, Hagenbüchle O, Wellauer PK | title = The p48 DNA-binding subunit of transcription factor PTF1 is a new exocrine pancreas-specific basic helix-loop-helix protein | journal = The EMBO Journal | volume = 15 | issue = 16 | pages = 4317–29 | date = Aug 1996 | pmid = 8861960 | pmc = 452157 | doi = 10.1002/j.1460-2075.1996.tb00806.x}} * {{cite journal | vauthors = Krapp A, Knöfler M, Ledermann B, Bürki K, Berney C, Zoerkler N, Hagenbüchle O, Wellauer PK | title = The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas | journal = Genes & Development | volume = 12 | issue = 23 | pages = 3752–63 | date = Dec 1998 | pmid = 9851981 | pmc = 317250 | doi = 10.1101/gad.12.23.3752 }} * {{cite journal | vauthors = Adell T, Gómez-Cuadrado A, Skoudy A, Pettengill OS, Longnecker DS, Real FX | title = Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells | journal = Cell Growth & Differentiation | volume = 11 | issue = 3 | pages = 137–47 | date = Mar 2000 | pmid = 10768861 }} * {{cite journal | vauthors = Kawaguchi Y, Cooper B, Gannon M, Ray M, MacDonald RJ, Wright CV | title = The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors | journal = Nature Genetics | volume = 32 | issue = 1 | pages = 128–34 | date = Sep 2002 | pmid = 12185368 | doi = 10.1038/ng959 | s2cid = 21627948 }} * {{cite journal | vauthors = 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 | title = Mutations in PTF1A cause pancreatic and cerebellar agenesis | journal = Nature Genetics | volume = 36 | issue = 12 | pages = 1301–5 | date = Dec 2004 | pmid = 15543146 | doi = 10.1038/ng1475 | s2cid = 6820665 }} * {{cite journal | vauthors = Beres TM, Masui T, Swift GH, Shi L, Henke RM, MacDonald RJ | title = 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 | journal = Molecular and Cellular Biology | volume = 26 | issue = 1 | pages = 117–30 | date = Jan 2006 | pmid = 16354684 | pmc = 1317634 | doi = 10.1128/MCB.26.1.117-130.2006 }} * {{cite journal | vauthors = Yamada M, Terao M, Terashima T, Fujiyama T, Kawaguchi Y, Nabeshima Y, Hoshino M | title = Origin of climbing fiber neurons and their developmental dependence on Ptf1a | journal = The Journal of Neuroscience | volume = 27 | issue = 41 | pages = 10924–34 | date = Oct 2007 | pmid = 17928434 | pmc = 6672857 | doi = 10.1523/JNEUROSCI.1423-07.2007 }} {{refend}}