PDX1 pancreatic and duodenal homeobox 1 [Homo sapiens (human)]

Gene Symbol	PDX1
Entrez Gene ID	3651
Full Name	pancreatic and duodenal homeobox 1
Synonyms	GSF, IDX-1, IPF1, IUF1, MODY4, PDX-1, STF-1
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:13 Map Location:13q12.1
Summary	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 (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq].
Disorder	MIM: 600733 Pancreatic agenesis, 260370 (3); MODY, type IV, 606392 (3); {Diabetes

mRNA	NM_000209, 189095257
Protein	NP_000200, 4557673
Product	pancreas/duodenum homeobox protein 1
RefSeq Status	REVIEWED

KEGG

hsa04930	Type II diabetes mellitus
hsa04950	Maturity onset diabetes of the young

Pathway Interaction Database

hnf3bpathway

FOXA2 and FOXA3 transcription factor networks

Reactome

REACT_13819	Regulation of gene expression in beta cells
REACT_15380	Diabetes pathways
REACT_13778	Regulation of gene expression in early pancreatic precursor cells
REACT_13698	Regulation of beta-cell development
REACT_15550	Insulin Synthesis and Processing

Process

ID	Name	Evidence
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA
GO:0003309	type B pancreatic cell differentiation	ISS
GO:0006006	glucose metabolic process	IEA
GO:0006091	generation of precursor metabolites and energy	TAS
GO:0006351	transcription, DNA-dependent	TAS
GO:0007263	nitric oxide mediated signal transduction	IDA
GO:0007275	multicellular organismal development	IEA
GO:0008284	positive regulation of cell proliferation	IEA
GO:0008285	negative regulation of cell proliferation	IEA
GO:0009887	organ morphogenesis	TAS
GO:0016331	morphogenesis of embryonic epithelium	IEA
GO:0030073	insulin secretion	IDA
GO:0031017	exocrine pancreas development	IEA
GO:0031018	endocrine pancreas development	TAS
GO:0042593	glucose homeostasis	IEA
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS
GO:0051594	detection of glucose	ISS

Component

Function

ID	Name	Evidence
GO:0003682	chromatin binding	IEA
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS
GO:0043565	sequence-specific DNA binding	IEA

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RefSeq Accession	Definition	Sequence	Price	Select
NM_000209	Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.	Full Length	$746.17
NM_000209		ORF Sequence	$247.08