PTF1A

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

PTF1A
Identifiers
AliasesPTF1A, PACA, PAGEN2, PTF1-p48, bHLHa29, pancreas specific transcription factor, 1a, p48, pancreas associated transcription factor 1a
External IDsOMIM: 607194 MGI: 1328312 HomoloGene: 10304 GeneCards: PTF1A
Gene location (Human)
Chr.Chromosome 10 (human)[1]
Band10p12.2Start23,192,312 bp[1]
End23,194,245 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 2: 19.45 – 19.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. GRCh38: Ensembl release 89: ENSG00000168267 - Ensembl, May 2017
  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.
  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.
  6. "Entrez Gene: PTF1A pancreas specific transcription factor, 1a".

Further reading

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.