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The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
PDX1 (Pancreatic And Duodenal Homeobox 1) is a Protein Coding gene. Diseases associated with PDX1 include Pancreatic Agenesis 1 and Maturity-Onset Diabetes Of The Young, Type 4. Among its related pathways are Regulation of beta-cell development and Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is HOXB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | TAS | 17941991 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001889 | liver development | IEA | -- |
GO:0003309 | type B pancreatic cell differentiation | IBA,ISS | -- |
GO:0006006 | glucose metabolic process | IEA | -- |
GO:0006091 | generation of precursor metabolites and energy | TAS | 8954967 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
BRD 7552 | Inducer of PDX1 transcription factor | 1137359-47-7 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PDX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PDX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PDX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pdx1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pdx1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PDX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PDX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PDX1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PDX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pdx1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pdx1 30 31 |
|
OneToOne | |
ipf1 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | C30H6.7 32 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
668654 | Likely Benign: not provided | 27,924,697(+) | G/A | MISSENSE_VARIANT | |
669733 | Benign: not provided | 27,919,860(+) | G/A | ||
669787 | Benign: not provided | 27,923,965(+) | G/A | INTRON_VARIANT | |
673552 | Benign: not provided | 27,924,186(+) | G/C | INTRON_VARIANT | |
673553 | Benign: not provided | 27,924,188(+) | G/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv538e212 | CNV | gain | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pancreatic agenesis 1 |
|
|
maturity-onset diabetes of the young, type 4 |
|
|
diabetes mellitus, permanent neonatal 1 |
|
|
pancreas, dorsal, agenesis of |
|
|
maturity-onset diabetes of the young |
|
|