PTF1A

Pancreas specific transcription factor, 1a
Identifiers
Symbols	PTF1A ; PACA; PAGEN2; PTF1-p48; bHLHa29
External IDs	OMIM: 607194 MGI: 1328312 HomoloGene: 10304 GeneCards: PTF1A Gene
Gene ontology Molecular function • RNA polymerase II distal enhancer sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • DNA binding • chromatin binding • protein dimerization activity • E-box binding Cellular component • nucleus • transcription factor complex • cytoplasm Biological process • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter • embryo development • tissue development • retina layer formation • cerebellum development • pancreas development • exocrine pancreas development • endocrine pancreas development • amacrine cell differentiation • positive regulation of transcription from RNA polymerase II promoter • retinoic acid receptor signaling pathway • neuron fate commitment • regulation of neural retina development 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

Pancreas transcription factor 1 subunit alpha is a protein that in humans is encoded by the PTF1A gene.^[1][2]

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.^[2]

References

1. Knöfler M, Krapp A, Hagenbüchle O, Wellauer PK (Sep 1996). "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". The Journal of Biological Chemistry 271 (36): 21993–2002. doi:10.1074/jbc.271.36.21993. PMID 8703005.
2. "Entrez Gene: PTF1A pancreas specific transcription factor, 1a".

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.
• 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. 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.
• 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.
• 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. PMID 17928434.