1. Gene
  2. PDX1 - pancreatic and duodenal homeobox 1 Gene

PDX1 - pancreatic and duodenal homeobox 1 Gene

中文名称:胰腺和十二指肠同源盒 1

种属: Homo sapiens

同用名: GSF; IPF1; IUF1; IDX-1; MODY4; PDX-1; STF-1; PAGEN1

基因 ID: 3651 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是几个基因的转录激活因子,包括胰岛素、生长抑素、葡萄糖激酶、胰岛淀粉样多肽和 2 型葡萄糖转运蛋白。编码的核蛋白参与胰腺的早期发育,在胰腺的早期发育中起主要作用胰岛素基因表达的葡萄糖依赖性调节。该基因的缺陷是胰腺发育不全的一个原因,可导致早发性胰岛素依赖型糖尿病 (IDDM) 以及青年 4 型成年型糖尿病 (MODY4) 。[RefSeq 提供,2017 年 8 月]

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 基因产物(1)

mRNA Protein Name
NM_000209.4 NP_000200.1 pancreas/duodenum homeobox protein 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
17941991 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of insulin secretion IDA
IDA: 通过直接分析推断
17941991 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
17941991 GOA
involved in type B pancreatic cell differentiation IDA
IDA: 通过直接分析推断
12124776 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PDX1 蛋白结构

Homeobox

Homeobox: Homeobox domain (147 - 203)

  • 0
  • 100
  • 200
  • 283 a.a.
蛋白主名 其他名称

pancreas/duodenum homeobox protein 1

IPF-1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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