PDX1 - pancreatic and duodenal homeobox 1 Gene

Also Known as GSF; IPF1; IUF1; IDX-1; MODY4; PDX-1; STF-1; PAGEN1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3651

About PDX1

Cytogenetic location: 13q12.2 Genomic coordinates (GRCh38): 13:27,920,000-27,926,313 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDX1 Protein Structure

Homeobox

Homeobox: Homeobox domain (147 - 203)

  • 0
  • 100
  • 200
  • 283 a.a.
Protein Preferred Names Protein Names

pancreas/duodenum homeobox protein 1

  • IPF-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
  • Maturity-Onset Diabetes Of The Young Type 4

  • MODY4

  • Mody, Type Iv

  • Mody Type 4

  • Mody, Type 4

  • Maturity-Onset Diabetes Of The Young 4

  • Mody-4

  • Diabetes Of The Young, Maturity-Onset, Type 4

  • Maturity-Onset Diabetes Of The Young, Type Iv

Pancreatic Agenesis 1
  • PAGEN1

  • Pagen

  • Pancreatic Hypoplasia, Congenital

  • Congenital Pancreatic Hypoplasia

  • Pancreatic Agenesis, Congenital

  • Pancreatic Diseases

Pancreas, Dorsal, Agenesis Of
  • Pancreatic Agenesis, Congenital

  • Agenesis Of The Dorsal Pancreas

  • Complete Agenesis Of The Dorsal Pancreas

  • Congenital Pancreatic Agenesis

  • Congenital Short Pancreas

  • Pancreas Agenesis, Dorsal

  • Partial Agenesis Of The Dorsal Pancreas

  • Partial Pancreatic Agenesis

Pancreatic Agenesis
  • Partial Pancreatic Agenesis

  • Congenital Pancreatic Agenesis

  • Partial Agenesis Of The Pancreas

  • Agenesis, Pancreatic

  • Pancreatic Agenesis, Congenital

Permanent Neonatal Diabetes Mellitus
  • Pndm

  • Permanent Diabetes Mellitus Of Infancy

  • Pdmi

  • Neonatal Diabetes Mellitus, Permanent

Maturity-Onset Diabetes Of The Young
  • MODY

  • Maturity Onset Diabetes Mellitus In Young

  • Mason-Type Diabetes

  • Mason Type Diabetes

  • Maturity Onset Diabetes Of The Young

  • Mody Syndrome

  • Diabetes Of The Young, Maturity-Onset

Diabetes Mellitus, Permanent Neonatal, 1
  • PNDM1

  • Pdmi

  • Dend Syndrome

  • Permanent Diabetes Mellitus Of Infancy

  • Permanent Neonatal Diabetes Mellitus 1

  • Diabetes Mellitus, Permanent, Of Infancy

  • Diabetes Mellitus, Permanent Neonatal 1

  • Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome

  • Dend

  • Developmental Delay Epilepsy And Neonatal Diabetes

  • Diabetes Mellitus Permanent Neonatal With Neurologic Features

  • Diabetes Mellitus, Permanent Neonatal, Type 1

Isolated Permanent Neonatal Diabetes Mellitus
  • Isolated Pndm

  • Monogenic Diabetes Of Infancy

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Exocrine Pancreatic Insufficiency
Diabetes Mellitus
  • Diabetes

Neonatal Diabetes
  • Neonatal Diabetes Mellitus

  • Diabetes Mellitus Syndrome In Newborn Infant

  • Ndm

Intestinal Atresia
Insulinoma
  • Islet Cell Adenoma

  • Insulin-Producing Tumor Of Islet Cells

  • Adenoma Islet Cell

  • Islet Cell Tumor

  • Experimental Organism Islet Cell Adenoma Neoplasm

Hyperglycemia
Maturity-Onset Diabetes Of The Young, Type 6
  • MODY6

  • Maturity-Onset Diabetes Of The Young Type 6

  • Maturity-Onset Diabetes Of The Young 6

  • Mody Type 6

  • Mody, Type 6

  • Mody-6

  • Diabetes Of The Young, Maturity-Onset, Type 6

Renal Cysts And Diabetes Syndrome
  • RCAD

  • Mody5

  • Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

  • Cakut With Diabetes

  • Maturity-Onset Diabetes Of The Young Type 5

  • Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

  • Adtkd3

  • Atypical Familial Juvenile Hyperuricemic Nephropathy

  • Atypical Fjhn

  • Familial Hypoplastic Glomerulocystic Kidney

  • Maturity-Onset Diabetes Of The Young, Type 5

  • Hyperuricemic Nephropathy, Familial Juvenile, Atypical

  • Fjhn, Atypical

  • Glomerulocystic Kidney Disease, Hypoplastic Type

  • Glomerulocystic Kidney, Familial Hypoplastic

  • Hypoplastic Type Glomerulocystic Kidney Disease

  • Glomerulocystic Kidney Disease Hypoplastic Type

  • Renal-Diabetes Mody5 Syndrome

Maturity-Onset Diabetes Of The Young, Type 2
  • Maturity-Onset Diabetes Of The Young Type 2

  • MODY2

  • Mody Glucokinase-Related

  • Mody Type 2

  • Mody, Type 2

  • Mody, Glucokinase-Related

  • Mody, Type Ii

  • Maturity-Onset Diabetes Of The Young 2

  • Mody-2

  • Diabetes Of The Young, Maturity-Onset, Type 2

  • Diabetes Mellitus Autosomal Dominant Type Ii

Maturity-Onset Diabetes Of The Young, Type 1
  • Maturity-Onset Diabetes Of The Young Type 1

  • MODY1

  • Mild Juvenile Diabetes Mellitus

  • Mody, Type I

  • Diabetes Mellitus Type 2

  • Mody Type 1

  • Mody, Type 1

  • Maturity-Onset Diabetes Of The Young 1

  • Mody-1

  • Diabetes Of The Young, Maturity-Onset, Type 1

Thyrotoxic Exophthalmos
Maturity-Onset Diabetes Of The Young, Type 3
  • Maturity-Onset Diabetes Of The Young Type 3

  • MODY3

  • Mody, Type Iii

  • Mody Type 3

  • Mody, Type 3

  • Maturity-Onset Diabetes Of The Young 3

  • Mody-3

  • Diabetes Of The Young, Maturity-Onset, Type 3

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Heart Defects, Congenital, And Other Congenital Anomalies
  • Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome

  • Pancreatic Agenesis And Congenital Heart Defects

  • HDCA

  • PACHD

  • Congenital Pancreatic Hypoplasia With Diabetes Mellitus And Congenital Heart Disease

  • Yorifuji-Okuno Syndrome

  • Yorifuji Okuno Syndrome

  • Pancreatic Hypoplasia, Congenital, With Diabetes Mellitus And Congenital Heart Disease

  • Congenital Heart Defects And Other Congenital Anomalies

  • Hereditary Pancreatic Hypoplasia, Diabetes Mellitus And Congenital Heart Disease

  • Congenital Pancreatic Agenesis With Diabetes Mellitus And Congenital Heart Disease

  • Heart Disease, Congenital, And Other Congenital Anomalies

Maturity-Onset Diabetes Of The Young, Type 7
  • Maturity-Onset Diabetes Of The Young Type 7

  • MODY7

  • Maturity-Onset Diabetes Of The Young, Type Vii

  • Maturity-Onset Diabetes Of The Young 7

  • Mody-7

  • Mody Type 7

  • Diabetes Of The Young, Maturity-Onset, Type 7

Maturity-Onset Diabetes Of The Young, Type 9
  • Maturity-Onset Diabetes Of The Young Type 9

  • MODY9

  • Maturity-Onset Diabetes Of The Young, Type Ix

  • Maturity-Onset Diabetes Of The Young 9

  • Mody-9

  • Mody Type 9

  • Diabetes Of The Young, Maturity-Onset, Type 9

Middle Ear Adenocarcinoma
  • Adenocarcinoma Of Middle Ear

  • Adenocarcinoma Of The Middle Ear

Endocrine Exophthalmos
  • Endocrine Exopthalmos

  • Thyroid Associated Opthalmopathies

Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
  • Maturity-Onset Diabetes Of The Young Type 8

  • MODY8

  • Dped

  • Maturity-Onset Diabetes Of The Young, Type Viii

  • Mody Type 8

  • Diabetes And Pancreatic Exocrine Dysfunction

  • Diabetes-Pancreatic Exocrine Dysfunction Syndrome

  • Diabetes And Pancreatic Exocrine

  • Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction

  • Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction

  • Diabetes And Pancreatic Exocrine Dysfunction Syndrome

  • Mody-8

  • Diabetes Of The Young, Maturity-Onset, Type 8

Maturity-Onset Diabetes Of The Young, Type 11
  • Maturity-Onset Diabetes Of The Young Type 11

  • MODY11

  • Maturity-Onset Diabetes Of The Young 11

  • Mody-11

  • Mody Type 11

  • Diabetes Of The Young, Maturity-Onset, Type 11

Gestational Diabetes
  • Gestational Diabetes Mellitus

  • GDM

  • Diabetes Mellitus Arising In Pregnancy

  • Maternal Gestational Diabetes Mellitus

  • Diabetes Mellitus, Gestational

  • Diabetes Mellitus, Pregnancy Related

  • Diabetes, Pregnancy-Induced

  • Diabetes Gestational

  • Diabetes, Gestational

  • Diabetes Of Pregnancy

  • Gdm - [Gestational Diabetes Mellitus]

  • Gestational Diabetes Mellitus Nos

  • Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Maturity-Onset Diabetes Of The Young, Type 10
  • Maturity-Onset Diabetes Of The Young Type 10

  • MODY10

  • Maturity-Onset Diabetes Of The Young 10

  • Mody-10

  • Mody Type 10

  • Diabetes Of The Young, Maturity-Onset, Type 10

Maturity-Onset Diabetes Of The Young, Type 13
  • Maturity-Onset Diabetes Of The Young Type 13

  • MODY13

  • Mody Type 13

  • Mody, Type 13

  • Maturity-Onset Diabetes Of The Young 13

  • Diabetes Of The Young, Maturity-Onset, Type 13

Type 1 Diabetes Mellitus 6
  • Diabetes Mellitus, Insulin-Dependent, 6

  • Iddm6

  • Insulin-Dependent Diabetes Mellitus 6

  • T1D6

  • Insulin-Dependent Diabetes Mellitus-6

Microcystic Adenoma
  • Adenoma Microcystic

  • Adenoma, Microcystic

Type 1 Diabetes Mellitus 11
  • Diabetes Mellitus, Insulin-Dependent, 11

  • Iddm11

  • Insulin-Dependent Diabetes Mellitus 11

  • T1D11

  • Insulin-Dependent Diabetes Mellitus-11

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Pancreatic Cystadenoma
  • Cystadenoma Of Pancreas

Hyperinsulinemic Hypoglycemia
  • Nesidioblastosis

  • Islet Cell Hyperplasia

  • Persistent Hyperinsulinemia Hypoglycemia Of Infancy

  • Hyperinsulinemic Hypoglycaemia

Transient Neonatal Diabetes Mellitus
  • Diabetes Mellitus, Transient Neonatal

  • Tndm

  • Chromosome 6-Associated Transient Diabetes Mellitus

  • Dmtn

  • Diabetes Mellitus, 6q24-Related Transient Neonatal

  • Tndm1

  • Neonatal Diabetes Mellitus, Transient

  • Tndm -[Transient Neonatal Diabetes Mellitus]

Myocardial Infarction
  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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