| Gene Symbol |
PTF1A
|
| Entrez Gene |
256297
|
| Alt Symbol |
PACA, PAGEN2, PTF1-p48, bHLHa29
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
pancreas specific transcription factor, 1a
|
| Other Description |
bHLH transcription factor p48|class A basic helix-loop-helix protein 29|class II bHLH protein PTF1A|exocrine pancreas-specific transcription factor p48|p48 DNA-binding subunit of transcription factor PTF1|pancreas transcription factor 1 subunit alpha|pancreas-specific transcription factor 1a
|
| Swissprots |
Q7RTS3 Q9HC25
|
| Accessions |
DAA01052 Q7RTS3 AF181999 AAG09441 BC172252 AAI72252 BC172557 AAI72557 BM055347 CK904916 NM_178161 NP_835455
|
| Function |
Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates. {ECO:0000269|PubMed:10768861, ECO:0000269|PubMed:15543146}.
|
| Subcellular Location |
Nucleus {ECO:0000255|PROSITE- ProRule:PRU00981}. Cytoplasm {ECO:0000250}. Note=In chronic pancreatitis associated with pancreas cancer preferentially accumulates in the cytoplasm of acinar/ductular complexes. In the cytoplasm loses its ability to form the PTF1 complex (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers. {ECO:0000269|PubMed:10768861}.
|