PTF1A (pancreas associated transcription factor 1a)

2016-04-01  

Identity

HGNC
LOCATION
10p12.2
LOCUSID
ALIAS
PACA,PAGEN2,PTF1-p48,bHLHa29,p48

Other Information

Locus ID:

NCBI: 256297
MIM: 607194
HGNC: 23734
Ensembl: ENSG00000168267

Variants:

dbSNP: 256297
ClinVar: 256297
TCGA: ENSG00000168267
COSMIC: PTF1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168267ENST00000376504Q7RTS3
ENSG00000168267ENST00000638469A0A1W2PQC4
ENSG00000168267ENST00000639082A0A1W2PRT5
ENSG00000168267ENST00000639873A0A1W2PPH2
ENSG00000168267ENST00000640579A0A1W2PR29
ENSG00000168267ENST00000640697A0A1W2PQF5

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in early pancreatic precursor cellsREACTOMER-HSA-210747

References

Pubmed IDYearTitleCitations
163546842006PTF1 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.92
253553112014The E3 ubiquitin ligase thyroid hormone receptor-interacting protein 12 targets pancreas transcription factor 1a for proteasomal degradation.6
188343322009p/CAF modulates the activity of the transcription factor p48/Ptf1a involved in pancreatic acinar differentiation.5
206688902011Genetic lineage tracing, a powerful tool to investigate the embryonic organogenesis and adult organ maintenance of the pancreas.4
233394552013ICAT is a novel Ptf1a interactor that regulates pancreatic acinar differentiation and displays altered expression in tumours.2
179284342007Origin of climbing fiber neurons and their developmental dependence on Ptf1a.0
196504122009A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.0
197411202009Multiple transcriptional mechanisms control Ptf1a levels during neural development including autoregulation by the PTF1-J complex.0
242128822014Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.0
257759272015Mutations in PTF1A are not a common cause for human VATER/VACTERL association or neural tube defects mirroring Danforth's short tail mouse.0

Citation

Dessen P

PTF1A (pancreas associated transcription factor 1a)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55733/ptf1a