PDX1 - pancreatic and duodenal homeobox 1 Gene
Also Known as GSF; IPF1; IUF1; IDX-1; MODY4; PDX-1; STF-1; PAGEN1
Species: Homo sapiens
About PDX1
This gene has 1 transcript (splice variant), 85 orthologues, 42 paralogues and is associated with 6 phenotypes. Biased expression in duodenum (RPKM 9.6), stomach (RPKM 1.5) and 3 other tissues.
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 (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
PDX1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000209.4 | NP_000200.1 | pancreas/duodenum homeobox protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
17941991 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of insulin secretion |
IDA
IDA: Inferred from direct assay
|
17941991 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
17941991 | GOA |
| involved in type B pancreatic cell differentiation |
IDA
IDA: Inferred from direct assay
|
12124776 | GOA |
PDX1 Protein Structure
Homeobox: Homeobox domain (147 - 203)
- 0
- 100
- 200
- 283 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
pancreas/duodenum homeobox protein 1 |
|
PDX1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80274 | PDX1 Antibody (YA234) | WB, IHC-P, ICC/IF | Human |
| HY-P89405 | PDX1 Antibody (YA8854) | WB, IHC-P, ICC/IF | Human, Mouse |
| HY-P89405A | PDX1 Antibody (YA8854)(PBS only) | WB, IHC-P, ICC/IF | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
|
| Pancreatic Agenesis 1 |
|
|
| Pancreas, Dorsal, Agenesis Of |
|
|
| Pancreatic Agenesis |
|
|
| Permanent Neonatal Diabetes Mellitus |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
|
| Isolated Permanent Neonatal Diabetes Mellitus |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Exocrine Pancreatic Insufficiency |
|
|
| Diabetes Mellitus |
|
|
| Neonatal Diabetes |
|
|
| Intestinal Atresia |
|
|
| Insulinoma |
|
|
| Hyperglycemia |
|
|
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
|
| Renal Cysts And Diabetes Syndrome |
|
|
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 1 |
|
|
| Thyrotoxic Exophthalmos |
|
|
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
|
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
|
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
|
| Middle Ear Adenocarcinoma |
|
|
| Endocrine Exophthalmos |
|
|
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
|
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
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| Gestational Diabetes |
|
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| Maturity-Onset Diabetes Of The Young, Type 10 |
|
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| Maturity-Onset Diabetes Of The Young, Type 13 |
|
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| Type 1 Diabetes Mellitus 6 |
|
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| Microcystic Adenoma |
|
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| Type 1 Diabetes Mellitus 11 |
|
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| Pancreatic Cancer |
|
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| Pancreatic Cystadenoma |
|
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| Hyperinsulinemic Hypoglycemia |
|
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| Transient Neonatal Diabetes Mellitus |
|
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| Myocardial Infarction |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PDX1 | RGD | RGD:62387 |
| Mus musculus | PDX1 | MGD | MGI:102851 |
| Bos taurus | PDX1 | VGNC | VGNC:32721 |
| Canis familiaris | PDX1 | VGNC | VGNC:44396 |
| Felis catus | PDX1 | VGNC | VGNC:102286 |
| Macaca mulatta | PDX1 | VGNC | VGNC:106283 |
| Others | PDX1 | NCBI |