PTF1A

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)
End	23,194,245 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	19,452,312 bp
RNA expression pattern
	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
	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
	256297
	19213
	ENSG00000168267
	ENSMUSG00000026735
	Q7RTS3
	Q9QX98
	NM_178161
	NM_018809
	NP_835455
	NP_061279
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168267 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026735 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: PTF1A pancreas specific transcription factor, 1a".

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.
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.

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000168267 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026735 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8703005-5] 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.

[entrez-6] "Entrez Gene: PTF1A pancreas specific transcription factor, 1a".

[1]

[2]

[3]

[4]

[5]

[6]

PTF1A

Function

References

Further reading

€4.95