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PDX1 Gene

protein-coding GIFtS: 60

GC13P009314

pancreatic and duodenal homeobox 1
(Previous names: insulin promoter factor 1, homeodomain transcription factor )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: IPF1)

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
pancreatic and duodenal homeobox 1¹ ²		Islet/duodenum homeobox-1² ³
IDX-1¹ ² ³		GSF² ³
STF-1¹ ² ³		IPF-1² ³
PDX-1¹ ² ³		IUF-1² ³
MODY4¹ ² ⁵		pancreatic-duodenal homeobox factor 1²
IPF1² ³ ⁵		pancreas/duodenum homeobox protein 1²
insulin promoter factor 1, homeodomain transcription factor¹ ²		IUF1²
Insulin upstream factor 1² ³		somatostatin transcription factor 1²
Glucose-sensitive factor² ³		Insulin promoter factor 1³
Somatostatin-transactivating factor 1² ³

External Ids:	HGNC: 6107¹	Entrez Gene: 3651²	Ensembl: ENSG00000139515⁷	UniProtKB: P52945³

Export aliases for PDX1 gene to outside databases

Previous GC identifers: GC11P036490 GC11P035616 GC13P027393 GC13P028494

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PDX1:

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)

UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945

Function: Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene

transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. Binds

preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium,

permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the

hormone-producing phenotype of the beta-cell

Gene Wiki entry for PDX1 (Pdx1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for PDX1
Other transcription factors

Search SABiosciences Chromatin IP Primers for PDX1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PDX1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12.1 Ensembl cytogenetic band: 13q12.2 HGNC cytogenetic band: 13q12.1

PDX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDX1 gene location

GeneLoc gene densities for chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13P009314: view genomic region (about GC identifiers)

Start:	9,314,253 bp from pter
End:	9,320,540 bp from pter
Size:	6,288 bases
Orientation:	plus strand

1 alternative location:

Chr13+ 28,494,157-28,499,394

RefSeq DNA sequence:

NC_000013.10 NT_024524.14

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945 (See protein sequence)

Recommended Name: Pancreas/duodenum homeobox protein 1

Size: 283 amino acids; 30771 Da

Subunit: Interacts with the basic helix-loop-helix domains of TCF3(E47) and NEUROD1 and with HMG-I(Y). Interacts with

SPOP (By similarity). Interacts with the methyltransferase SETD7

Subcellular location: Nucleus

Miscellaneous: According to PubMed:16141209, it may be methylated by SETD7 in vitro. However, the relevance of

methylation is unsure in vivo

Secondary accessions: O60594 Q5VYW2

Explore the universe of human proteins at neXtProt for PDX1: NX_P52945

Post-translational modifications:

Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000200.1

ENSEMBL proteins:

ENSP00000370421

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: PDX1
	GenScript Custom Purified and Recombinant Proteins Services for PDX1
	Novus Biologicals Proteins for PDX1
	Novus Biologicals Lysate for PDX1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0044424	intracellular part	IEA	--

About this table

PDX1 for ontologies About GeneDecksing

Antibodies for PDX1:

	Millipore Mono- and Polyclonal Antibodies for the study of PDX1
	Sigma-Aldrich Antibodies for PDX1
	R&D Systems Antibodies for PDX1 (PDX-1/IPF1)
	Cell Signaling Technology (CST) Antibodies for PDX1
	OriGene Antibodies (see all 2): PDX1
	GenScript Custom Superior Antibodies Services for PDX1
	Novus Biologicals Antibodies for PDX1
	Browse antibodies at Epitomics

Assays for PDX1:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PDX1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PDX1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR020479 Homeobox_eu

IPR012287 Homeodomain-rel

IPR017995 Homeobox_antennapedia

IPR001356 Homeobox

IPR017970 Homeobox_CS

Graphical View of Domain Structure for InterPro Entry P52945

ProtoNet protein and cluster: P52945

2 Blocks protein families:

IPB000047 Lambda and other repressor helix-turn-helix signature

IPB001827 Homeobox protein

UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945

Domain: The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin

promoter (By similarity)

Domain: The homeodomain, which contains the nuclear localization signal, not only mediates DNA-binding, but also acts

as a protein-protein interaction domain for TCF3(E47), NEUROD1 and HMG-I(Y) (By similarity)

Similarity: Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily

Similarity: Contains 1 homeobox DNA-binding domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945

Function: Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene

transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. Binds

preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium,

permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the

hormone-producing phenotype of the beta-cell

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA for PDX1 Sigma-Aldrich shRNA for PDX1
		OriGene 29mer shRNA kits in GFP-retroviral vector: PDX1 OriGene shRNA RFP: PDX1 OriGene basic RS shRNA: PDX1 OriGene siRNA: PDX1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PDX1

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PDX1
		Search SABiosciences for Assays for microRNAs that regulate PDX1

Gene
Editing:

Sigma-Aldrich CompoZr Knockout ZFN for PDX1

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PDX1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PDX1 OriGene untagged cDNA clones in CMV expression vector: PDX1 Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PDX1
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for PDX1

Genatlas biochemistry entry for PDX1:

lipoyl-containing protein (protein X),subunit of the pyruvate dehydrogenase complex,tightly associated with E2 and

binding E3 subunit

5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	17941991
GO:0003702	RNA polymerase II transcription factor activity	TAS	8988180
GO:0003704	specific RNA polymerase II transcription factor activity	TAS	8954967
GO:0005515	protein binding	IEA	--

About this table

PDX1 for ontologies About GeneDecksing

Animal Models: 11 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Pdx1):

cellular	digestive/alimentary	endocrine/exocrine gland	growth/size	homeostasis/metabolism
immune system	lethality-postnatal	liver/biliary system	normal	renal/urinary system
skin/coat/nails

PDX1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

PDX1 for pathways About GeneDecksing

2 Millipore Pathways for PDX1

	GABA signaling in brain
	Selected targets of HNF1

1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for PDX1

Type II Diabetes Mellitus Signaling

2 Kegg Pathways (Kegg details for PDX1):

	hsa04930 Type II diabetes mellitus
	hsa04950 Maturity onset diabetes of the young

SABiosciences Pathway-Focused PCR Arrays including PDX1 (see all 3): PAHS-023A PAHS-081A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PDX1

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PDX1

5/12 Interacting proteins for PDX1 (ENSP00000370421³ P52945²) via UniProtKB, MINT, and/or STRING (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FOXA2	ENSP00000366319³	STRING: ENSP00000366319
GCK	ENSP00000223366³	STRING: ENSP00000223366
HNF1A	ENSP00000257555³	STRING: ENSP00000257555
INS	ENSP00000370731³	STRING: ENSP00000370731
NKX6-1	ENSP00000295886³	STRING: ENSP00000295886

About this table

5/19 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 19):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0006006	glucose metabolic process	IEA	--
GO:0006091	generation of precursor metabolites and energy	TAS	8954967
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	--	--

About this table

PDX1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

PDX1 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PDX1
10/31 Novoseek chemical compound relationships for PDX1 gene (see all 31)

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
c-peptide	68.2	11	19757377 (1), 16630561 (1), 17612586 (1), 16186387 (1) (see all 8)
preproinsulin	68.2	12	11319727 (2), 14563207 (2), 15935394 (2), 16213778 (1) (see all 5)
glucose	68	169	11574405 (7), 10426567 (6), 7980425 (6), 9252422 (5) (see all 71)
i-app	54.8	8	10748090 (4), 8922372 (2), 17426693 (1), 11118882 (1)
nicotinamide	51	2	18060872 (2)
incretin	50.5	1	12323111 (1)
proglucagon	37.2	2	16213778 (1)
sulfonylurea	34.6	2	16339272 (1), 18708284 (1)
streptozotocin	33.7	2	17426693 (1)
lactacystin	31.9	1	12488243 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA for PDX1 Sigma-Aldrich shRNA for PDX1
		OriGene 29mer shRNA kits in GFP-retroviral vector: PDX1 OriGene shRNA RFP: PDX1 OriGene basic RS shRNA: PDX1 OriGene siRNA: PDX1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PDX1

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PDX1
		Search SABiosciences for Assays for microRNAs that regulate PDX1

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PDX1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PDX1 OriGene untagged cDNA clones in CMV expression vector: PDX1 Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PDX1

Primers:		OriGene genome-wide validated SYBR primer pairs: PDX1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PDX1: PPH05536A

REFSEQ mRNAs for PDX1 gene:

NM_000209.3

Additional cDNA sequence:

U30329.1 U35632.1 X99894.1

2 DOTS entries:

DT.97763786 DT.97835837

24/26 AceView cDNA sequences (see all 26):

CA848737 U30329 BV183905 CA843531 CB068470 CA849020 U35632 CA777063

BM504017 X99894 CA777186 CB177387 CA867458 BI715297 NM_000209 CA843291

BM352781 CB177388 CA776904 CA771381 BM510164 BI714743 CA776782 CB069243

highest scoring ESTs for PDX1:

X99894 BI715297 BM352781 BM504017 BM510164 BU785451 CA776782 CA776904 CA777063 CA777186

Unigene Cluster for PDX1:

Pancreatic and duodenal homeobox 1

Hs.32938 [show with all ESTs]

Unigene Representative Sequence: NM_000209

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000381033(uc001urt.2)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PDX1 expression in normal and diseased human tissues

¹ / ² / ³

7 probe-sets matching PDX1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
400_at²^{, 3}	U95-A	1	0.50	1.00	1.00	1.00	X99894	1.00	1.00	1.00	1
210937_s_at²^{, 3}	U133-A	1	0.82	1.00	--	--	U35632	0.80	1.00	0.91	1
210938_at²^{, 3}	U133-A	1	0.55	1.00	--	--	U30329	0.80	1.00	0.91	1
208559_at²^{, 3}	U133-A	1	0.55	1.00	--	--	NM_013311	0.20	1.00	0.72	1
210937_s_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--
210938_at²	U133Plus2	1	0.55	1.00	--	--	--	--	--	--	--
208559_at²	U133Plus2	1	0.55	1.00	--	--	--	--	--	--	--

About this table

PDX1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

PDX1 gene electronic northern expression

About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.32938

UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945

Tissue specificity: Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells,

at low levels in acinar cells)

Primers:		OriGene genome-wide validated SYBR primer pairs: PDX1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PDX1: PPH05536A

SABiosciences Expression via Pathway-Focused PCR Arrays including PDX1 (see all 3): PAHS-023A PAHS-081A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PDX1 gene from 5/7 species (see all 7)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PDX1¹	--	pancreatic and duodenal homeobox 1	87.83(n) 92.91(a)	493994 XM_543155.2 XP_543155.2
chimpanzee (Pan troglodytes)	PDX1¹	--	pancreatic and duodenal homeobox 1	99.65(n) 99.29(a)	452507 XM_509600.2 XP_509600.2
cow (Bos taurus)	PDX1¹	--	pancreatic and duodenal homeobox 1	89.4(n) 92.23(a)	538927 XM_583722.3 XP_583722.1
mouse (Mus musculus)	Pdx1^{1 , 5}	5 (86.84 cM)⁵	pancreatic and duodenal homeobox 1^{1, 5}	83.51(n)¹ 87.99(a)¹	18609¹ NM_008814.2¹ NP_032840.1¹ AK020261⁵ BC103572⁵ (see all 11)
chicken (Gallus gallus)	PDX1¹	--	pancreatic and duodenal homeobox 1	79.85(n) 77.73(a)	771348 XM_001234635.1 XP_001234636.1

About this table Species with no ortholog for PDX1

ENSEMBL Gene Tree for PDX1 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PDX1 gene

HOXC5² HOXA5² HOXA7² HOXB7² HOXB5² HOXC6²

PDX1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 13 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs1124607^1,2	C,F,	28495220(+)	`ACCCAA/C/GCCCAG`	1	--	int¹		7		NS EA NA	490
rs3812861^1,2	C,A,H,	28493489(+)	`TTTTTA/TAAAAA`	1	--	ng5¹ trp³		6		NA EA WA	216
rs3841228^1,2	--	28493496(+)	`AAAAA-/AGAATT`	1	--	ng5¹ trp³		0	--	--	--	--
rs4002827^1,2	C,	28493284(+)	`GTGTTC/TTCTGC`	1	--	ng5¹		1		NA	72
rs4002828^1,2	C,A,H,	28496119(+)	`GCTCCT/CCGTCC`	1	--	int¹		7		NA EA WA	220
rs4415872^1,2	C,A,H,	28497159(+)	`ATTAAC/ACCCGC`	1	--	int¹		7		NA EA WA	172
rs4430606^1,2	C,	28495193(+)	`GAAAGG/TCAGGG`	1	--	int¹		6		NA EA WA	216
rs4581569^1,2	C,F,A,	28497621(+)	`AAGTCC/TGGCTG`	1	--	int¹		11		NS EA NA WA	638
rs7331478^1,2	C,A,H,	28493857(+)	`GAAACT/GTTTAA`	1	--	ng5¹		6		NA EA WA	168
rs7981781^1,2	C,F,	28499962(+)	`GCAAGG/AGGGGA`	1	--	ut3¹		6		NA EA WA	218

About this table

HapMap Linkage Disequilibrium images for PDX1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PDX1: --

QIAGEN SeqTarget long-range PCR primers for resequencing PDX1

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PDX1 for disorders About GeneDecksing

OMIM: 600733 disorders: 260370 606392 125853

UniProtKB/Swiss-Prot: PDX1_HUMAN, P52945

Defects in PDX1 are a cause of pancreatic agenesis [MIM:260370]. This autosomal recessive disorder is

characterized by absence or hypoplasia of pancreas, leading to early-onset insulin-dependent diabetes mellitus. This

was found in a frameshift mutation that produces a truncated protein and results in a second initiation that produces

a second protein that act as a dominant negative mutant

Defects in PDX1 are a cause of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known as

diabetes mellitus type 2. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood

and insulin resistance

Defects in PDX1 are the cause of maturity-onset diabetes of the young type 4 (MODY4) [MIM:606392]; also

symbolized MODY-4. MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance,

onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and

frequent insulin-independence at the beginning of the disease

10/24 Novoseek disease relationships for PDX1 gene (see all 24)

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neonatal diabetes mellitus	77.8	3	19496967 (2)
niddm	74.2	38	10720084 (3), 11078452 (2), 9887471 (2), 15754742 (2) (see all 25)
insulinoma	67.2	14	18219478 (2), 10940482 (1), 15144884 (1), 15743769 (1) (see all 10)
hyperglycemia	66.1	6	18086901 (1), 19393272 (1), 19656489 (1), 19817786 (1) (see all 5)
pancreas exocrine	55.2	3	20009086 (2), 11246871 (1)
diabetes mellitus	50.5	14	18406800 (2), 9326926 (1), 15144884 (1), 9628281 (1) (see all 9)
glucose intolerance	39.1	1	17003335 (1)
pancreatic cancer	38.7	35	17552012 (7), 12947327 (6), 18665085 (4), 17161985 (2) (see all 7)
metaplasia	32.2	10	16938521 (6), 14960508 (1), 18400571 (1)
glucagonoma	32.1	3	15862113 (1), 10580420 (1)

About this table

GeneTests: PDX1

Permanent Neonatal Diabetes Mellitus

Human Gene Mutation Database (HGMD): PDX1
Genetic Association Database (GAD): PDX1
Human Genome Epidemiology (HuGE) Navigator: PDX1 (23 documents)

Export disorders and mutations for PDX1 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/398 PubMed articles for PDX1 gene, integrated from 7 sources (see all 398):
(articles sorted by number of sources associating them with PDX1)

Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1. (PubMed id 7590740)^{1, 2, 3} Stoffel M....Bell G.I. (1995)
The p38/reactivating kinase mitogen-activated protein kinase cascade mediates the activation of the transcription factor insulin upstream factor 1 and insulin gene transcription by high glucose in pancreatic beta-cells. (PubMed id 9252422)^{1, 2, 7} Macfarlane W.M.... Docherty K. (1997)
Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. (PubMed id 10545531)^{1, 2, 7} Hani E.H.... Froguel P. (1999)
Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene. (PubMed id 8635654)^{1, 2, 7} Inoue H.... Permutt M.A. (1996)
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. (PubMed id 10545530)^{1, 2, 7} Macfarlane W.M.... Hattersley A.T. (1999)
Pdx-1 links histone H3-Lys-4 methylation to RNA polymerase II elongation during activation of insulin transcription. (PubMed id 16141209)^{1, 2, 7} Francis J.... Mirmira R.G. (2005)
Does the aspartic acid to asparagine substitution at position 76 in the pancreas duodenum homeobox gene (PDX1) cause late-onset type 2 diabetes? (PubMed id 15277425)^{1, 4} Elbein S.C. and Karim M.A. (2004)
Increased PDX-1 expression is associated with outcome in patients with pancreatic cancer. (PubMed id 12947327)^{1, 7} Koizumi M....Imamura M. (2003)
Pancreatic duodenal homeobox-1 (PDX1) functions as a tumor suppressor in gastric cancer. (PubMed id 18477649)^{1, 7} Ma J....Wong B.C. (2008)
Transcriptional regulation of the lactase-phlorizin hydrolase promoter by PDX-1. (PubMed id 15107297)^{1, 7} Wang Z....Sibley E. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3651	HGNC: 6107	AceView: IPF1	Ensembl:ENSG00000139515	euGenes: HUgn3651
ECgene: PDX1	Kegg: 3651	H-InvDB: PDX1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PDX1

Intellectual Property for PDX1 gene
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PDX1 Gene

protein-coding GIFtS: 60

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PDX1 (Gene Symbol)
pancreatic and duodenal homeobox 1
IDX-1
STF-1
PDX-1
MODY4
IPF1
insulin promoter factor 1, homeodomain transcription factor
Insulin upstream factor 1
Glucose-sensitive factor
Somatostatin-transactivating factor 1
Islet/duodenum homeobox-1
GSF
IPF-1
IUF-1
pancreatic-duodenal homeobox factor 1
pancreas/duodenum homeobox protein 1
IUF1
somatostatin transcription factor 1
Insulin promoter factor 1

Shock
Hyperinsulinemia
PANCREAS EXOCRINE
hyperfunction
Carcinoma
Insulinoma
Glucose Intolerance
Hyperglycemia
Leukemia
insulin sensitivity
Diabetes Mellitus
Metaplasia
Tumors
Hypercholesterolemia
Metastasis
Neonatal diabetes mellitus
Adenocarcinoma
Fibrosarcoma
Glucagonoma
Permanent Neonatal Diabetes Mellitus
NIDDM
Cancer
Diabetes Mellitus Insulin-Dependent
Pancreatic Cancer
Myocardial Infarction

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PDX1 Gene

protein-coding GIFtS: 60

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