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

Gene ID: 3651, updated on 19-Jul-2014
Official Symbol
PDX1provided by HGNC
Official Full Name
pancreatic and duodenal homeobox 1provided by HGNC
Primary source
HGNC:6107
See related
Ensembl:ENSG00000139515; HPRD:02843; MIM:600733; Vega:OTTHUMG00000016638
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSF; IPF1; IUF1; IDX-1; MODY4; PDX-1; STF-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, Jul 2008]
See PDX1 in Epigenomics, MapViewer
Location:
13q12.1
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (27920031..27926314)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28494168..28500451)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 4 Neighboring gene GS homeobox 1 Neighboring gene PDX1 antisense RNA 1 Neighboring gene ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 Neighboring gene caudal type homeobox 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Diabetes mellitus type 2
MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
Compare labs
Maturity-onset diabetes of the young, type 4
MedGen: C1833382 OMIM: 606392 GeneReviews: Not available
Compare labs
Pancreatic agenesis, congenital
MedGen: C1850096 OMIM: 260370 GeneReviews: Not available
Compare labs
Permanent neonatal diabetes mellitus Compare labs

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
NHGRI GWA Catalog
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
    FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
    FOXA2 and FOXA3 transcription factor networks
  • Insulin secretion, organism-specific biosystem (from KEGG)
    Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...
  • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
    Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
    Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
    Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
  • Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
    Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
  • Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystem (from REACTOME)
    Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystemThe properties of transcriptional networks early in the differentiation of human pancreatic cells are inferred from the properties of well-studied networks in mouse models. In mice, the first visible...
  • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
    Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
  • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
    Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
  • Type II diabetes mellitus, conserved biosystem (from KEGG)
    Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
core promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein complex binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
central nervous system development IEA
Inferred from Electronic Annotation
more info
 
detection of glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
digestive tract development IEA
Inferred from Electronic Annotation
more info
 
endocrine pancreas development TAS
Traceable Author Statement
more info
 
exocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
insulin secretion IDA
Inferred from Direct Assay
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of embryonic epithelium IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
nitric oxide mediated signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
organ regeneration IEA
Inferred from Electronic Annotation
more info
 
organ senescence IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell death IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
response to chlorate IEA
Inferred from Electronic Annotation
more info
 
response to cytokine IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to iron(II) ion IEA
Inferred from Electronic Annotation
more info
 
response to leucine IEA
Inferred from Electronic Annotation
more info
 
response to nicotine IEA
Inferred from Electronic Annotation
more info
 
response to vitamin IEA
Inferred from Electronic Annotation
more info
 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
transdifferentiation IEA
Inferred from Electronic Annotation
more info
 
type B pancreatic cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
type B pancreatic cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pancreas/duodenum homeobox protein 1
Names
pancreas/duodenum homeobox protein 1
IPF-1
IUF-1
glucose-sensitive factor
insulin upstream factor 1
islet/duodenum homeobox-1
somatostatin transcription factor 1
pancreatic-duodenal homeobox factor 1
somatostatin-transactivating factor 1
insulin promoter factor 1, homeodomain transcription factor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008183.1 

    Range
    5001..11284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000209.3NP_000200.1  pancreas/duodenum homeobox protein 1

    See proteins identical to NP_000200.1

    Status: REVIEWED

    Source sequence(s)
    AL353195, CA848737, U30329
    Consensus CDS
    CCDS9327.1
    UniProtKB/Swiss-Prot
    P52945
    Related
    ENSP00000370421, OTTHUMP00000018174, ENST00000381033, OTTHUMT00000044310
    Conserved Domains (1) summary
    cd00086
    Location:147205
    Blast Score: 228
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    27920031..27926314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    9314253..9320535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    28462445..28468728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)