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

Gene ID: 3651, updated on 11-Jun-2025
Official Symbol
PDX1provided by HGNC
Official Full Name
pancreatic and duodenal homeobox 1provided by HGNC
Primary source
HGNC:HGNC:6107
See related
Ensembl:ENSG00000139515 MIM:600733; AllianceGenome:HGNC:6107
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; PAGEN1
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]
Expression
Biased expression in duodenum (RPKM 9.6), stomach (RPKM 1.5) and 3 other tissues See more
Orthologs
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See PDX1 in Genome Data Viewer
Location:
13q12.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (27920000..27926313)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (27141129..27147442)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (28494137..28500450)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903139 Neighboring gene PDX1 associated lncRNA, upregulator of transcription Neighboring gene uncharacterized LOC105370130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28497939-28498606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28498607-28499273 Neighboring gene ATP synthase F1 subunit epsilon pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5205 Neighboring gene long intergenic non-protein coding RNA 543

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
EBI GWAS Catalog
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
EBI GWAS Catalog
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to acadesine IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within digestive tract development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within enteroendocrine cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within exocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
involved_in generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within glucose metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of insulin secretion IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within liver development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within morphogenesis of embryonic epithelium IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of type B pancreatic cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within pancreas development IEA
Inferred from Electronic Annotation
more info
 
involved_in pancreas development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of type B pancreatic cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in response to L-leucine IEA
Inferred from Electronic Annotation
more info
 
involved_in response to alkaloid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to chlorate IEA
Inferred from Electronic Annotation
more info
 
involved_in response to cytokine IEA
Inferred from Electronic Annotation
more info
 
involved_in response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucose IEA
Inferred from Electronic Annotation
more info
 
involved_in response to iron(II) ion IEA
Inferred from Electronic Annotation
more info
 
involved_in response to lipid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nicotine IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
involved_in response to vitamin IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
involved_in transdifferentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of type B pancreatic cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in type B pancreatic cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in type B pancreatic cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within type B pancreatic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in type B pancreatic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in type B pancreatic cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of type B pancreatic cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pancreas/duodenum homeobox protein 1
Names
IPF-1
IUF-1
glucose-sensitive factor
insulin promoter factor 1, homeodomain transcription factor
insulin upstream factor 1
islet/duodenum homeobox-1
pancreatic-duodenal homeobox factor 1
somatostatin transcription factor 1
somatostatin-transactivating factor 1

NEW Try the new Transcript table

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 RefSeqGene

    Range
    4970..11283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000209.4NP_000200.1  pancreas/duodenum homeobox protein 1

    See identical proteins and their annotated locations for NP_000200.1

    Status: REVIEWED

    Source sequence(s)
    AL353195, CA848737, U30329
    Consensus CDS
    CCDS9327.1
    UniProtKB/Swiss-Prot
    O60594, P52945, Q5VYW2
    Related
    ENSP00000370421.4, ENST00000381033.5
    Conserved Domains (1) summary
    pfam00046
    Location:149202
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    27920000..27926313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    27141129..27147442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)