PTF1A
entrez
256297
canonical
uniprot
Q7RTS3
canonical
ensembl
ENSG00000168267
resolver
ensp
ENSP00000365687
resolver
enst
ENST00000376504
resolver
genesymbol
PTF1A
resolver
genesymbol_syn
BHLHA29
resolver
genesymbol_syn
PTF1P48
resolver
hgnc
HGNC:23734
resolver
uniprot
Q9HC25
resolver
uniprot_entry
PTF1A_HUMAN
resolver
uniprot_sec
Q9HC25
resolver
amino_acid_sequence
MDAVLLEHFPGGLDAFPSSYFDEDDFFTDQSSRDPLEDGDELLADEQAEVEFLSHQLHEYCYRDGACLLLQPAPPAAPLALAPPSSGGLGEPDDGGGGGYCCETGAPPGGFPYSPGSPPSCLAYPCAGAAVLSPGARLRGLSGAAAAAARRRRRVRSEAELQQLRQAANVRERRRMQSINDAFEGLRSHIPTLPYEKRLSKVDTLRLAIGYINFLSELVQADLPLRGGGAGGCGGPGGGGRLGGDSPGSQAQKVIICHRGTRSPSPSDPDYGLPPLAGHSLSWTDEKQLKEQNIIRTAKVWTPEDPRKLNSKSSFNNIENEPPFEFVS
uniprot
proteins
disease_involvement
DISEASE: Pancreatic and cerebellar agenesis (PACA) [MIM:609069]: A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features. {ECO:0000269|PubMed:15543146}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pancreatic agenesis 2 (PAGEN2) [MIM:615935]: A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency. {ECO:0000269|PubMed:24212882}. Note=The disease is caused by variants affecting the gene represented in this entry. In some families with pancreatic agenesis, disease causing mutations affect the sequence and activity of an enhancer region of 400-bp located 25 kb downstream of PTF1A (PubMed:24212882). {ECO:0000269|PubMed:24212882}.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
34970
uniprot
proteins
pubmed
10768861
uniprot
proteins
pubmed
14516699
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15543146
uniprot
proteins
pubmed
24212882
uniprot
proteins
sequence_length
328
uniprot
proteins
subcellular_location
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}.
uniprot
proteins