PDX1
entrez
3651
canonical
uniprot
P52945
canonical
ensembl
ENSG00000139515
resolver
ensp
ENSP00000370421
resolver
enst
ENST00000381033
resolver
genesymbol
PDX1
resolver
genesymbol_syn
IPF1
resolver
genesymbol_syn
STF1
resolver
hgnc
HGNC:6107
resolver
uniprot
O60594
resolver
uniprot
Q5VYW2
resolver
uniprot_entry
PDX1_HUMAN
resolver
uniprot_sec
O60594
resolver
uniprot_sec
Q5VYW2
resolver
amino_acid_sequence
MNGEEQYYAATQLYKDPCAFQRGPAPEFSASPPACLYMGRQPPPPPPHPFPGALGALEQGSPPDISPYEVPPLADDPAVAHLHHHLPAQLALPHPPAGPFPEGAEPGVLEEPNRVQLPFPWMKSTKAHAWKGQWAGGAYAAEPEENKRTRTAYTRAQLLELEKEFLFNKYISRPRRVELAVMLNLTERHIKIWFQNRRMKWKKEEDKKRGGGTAVGGGGVAEPEQDCAVTSGEELLALPPPPPPGGAVPPAAPVAAREGRLPPGLSASPQPSSVAPRRPQEPR
uniprot
proteins
disease_involvement
DISEASE: Pancreatic agenesis 1 (PAGEN1) [MIM:260370]: 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:8988180}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Type 2 diabetes mellitus (T2D) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:10545530, ECO:0000269|PubMed:10545531}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:9326926}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell.
uniprot
proteins
mass_dalton
30771
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration. Phosphorylated by HIPK2 on Ser-268 upon glucose accumulation. This phosphorylation mediates subnuclear localization shifting. Phosphorylation by PASK may lead to translocation into the cytosol (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
Antp homeobox family
uniprot
proteins
protein_family
IPF1/XlHbox-8 subfamily
uniprot
proteins
pubmed
10545530
uniprot
proteins
pubmed
10545531
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
16141209
uniprot
proteins
pubmed
20637728
uniprot
proteins
pubmed
7590740
uniprot
proteins
pubmed
8635654
uniprot
proteins
pubmed
8988180
uniprot
proteins
pubmed
9252422
uniprot
proteins
pubmed
9326926
uniprot
proteins
sequence_length
283
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol {ECO:0000250}.
uniprot
proteins