DescrioRecName: Full=Pancreas/duodenum homeobox protein 1; Short=PDX-1; AltName: F

ull=Glucose-sensitive factor; Short=GSF; AltName: Full=Insulin promoter factor 1

; Short=IPF-1; AltName: Full=Insulin upstream factor 1; Short=IUF-1; AltName: Fu
ll=Islet/duodenum homeobox-1; Short=IDX-1; AltName: Full=Somatostatin-transactiv
ating factor 1; Short=STF-1;
Nmero de referncias: 13
Autores: Stoffel M., Stein R., Wright C.V., Espinosa R. III, le Beau M.M., Bell
G.I.
Ttulo: Localization of human homeodomain transcription factor insulin promoter fa
ctor 1 (IPF1) to chromosome band 13q12.1.
Autores: Inoue H., Riggs A.C., Tanizawa Y., Ueda K., Kuwano A., Liu L., Donis-Ke
ller H., Permutt M.A.
Ttulo: Isolation, characterization, and chromosomal mapping of the human insulin
promoter factor 1 (IPF-1) gene.
Autores: Hiroshi I.
Ttulo:
Autores: Marshak S., Totary H., Cerasi E., Melloul D.
Ttulo:
Autores: Hara M., Lindner T.H., Paz V.P., Wang X., Iwasaki N., Bell G.I.
Ttulo:
Autores: Macfarlane W.M., Smith S.B., James R.F., Clifton A.D., Doza Y.N., Cohen
P., Docherty K.
Ttulo: The p38/reactivating kinase mitogen-activated protein kinase cascade media
tes the activation of the transcription factor insulin upstream factor 1 and ins
ulin gene transcription by high glucose in pancreatic beta-cells.
Autores: Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft
K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keena
n S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews
D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Bar
low K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.
, Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clar
ke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., D
eloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkn
er L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.
G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E.
, Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt
P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird
G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Love
land J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray
A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., P
elan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen
R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tr
acey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L.,
Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.
M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Ttulo: The DNA sequence and analysis of human chromosome 13.
Autores: Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C
.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwa
rds N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yo
oseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., H
uson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Wa
terman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.

Ttulo:
Autores: Stoffers D.A., Zinkin N.T., Stanojevic V., Clarke W.L., Habener J.F.
Ttulo: Pancreatic agenesis attributable to a single nucleotide deletion in the hu
man IPF1 gene coding sequence.
Autores: Francis J., Chakrabarti S.K., Garmey J.C., Mirmira R.G.
Ttulo: Pdx-1 links histone H3-Lys-4 methylation to RNA polymerase II elongation d
uring activation of insulin transcription.
Autores: An R., da Silva Xavier G., Semplici F., Vakhshouri S., Hao H.X., Rutter
J., Pagano M.A., Meggio F., Pinna L.A., Rutter G.A.
Ttulo: Pancreatic and duodenal homeobox 1 (PDX1) phosphorylation at serine- 269 i
s HIPK2-dependent and affects PDX1 subnuclear localization.
Autores: Macfarlane W.M., Frayling T.M., Ellard S., Evans J.C., Allen L.I., Bulm
an M.P., Ayres S., Shepherd M., Clark P., Millward A., Demaine A., Wilkin T., Do
cherty K., Hattersley A.T.
Ttulo: Missense mutations in the insulin promoter factor-1 gene predispose to typ
e 2 diabetes.
Autores: Hani E.H., Stoffers D.A., Chevre J.-C., Durand E., Stanojevic V., Dina
C., Habener J.F., Froguel P.
Ttulo: Defective mutations in the insulin promoter factor-1 (IPF-1) gene in lateonset type 2 diabetes mellitus.
Ignoring: DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
Ignoring: DT 01-OCT-1996, sequence version 1.
Ignoring: DT 09-DEC-2015, entry version 158.
Ignoring: GN Name=PDX1; Synonyms=IPF1, STF1;
Ignoring: OS Homo sapiens (Human).
Ignoring: OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Ignoring: OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Ignoring: OC Catarrhini; Hominidae; Homo.
Ignoring: OX NCBI_TaxID=9606;
Ignoring: RN [1]
Ignoring: RP NUCLEOTIDE SEQUENCE [MRNA].
Ignoring: RX PubMed=7590740; DOI=10.1006/geno.1995.1120;
Ignoring: RA Stoffel M., Stein R., Wright C.V., Espinosa R. III, le Beau M.M.,
Ignoring: RA Bell G.I.;
Ignoring: RT "Localization of human homeodomain transcription factor insulin
Ignoring: RT promoter factor 1 (IPF1) to chromosome band 13q12.1.";
Ignoring: RL Genomics 28:125-126(1995).
Ignoring: RN [2]
Ignoring: RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Ignoring: RC TISSUE=Pancreatic islet;
Ignoring: RX PubMed=8635654; DOI=10.2337/diab.45.6.789;
Ignoring: RA Inoue H., Riggs A.C., Tanizawa Y., Ueda K., Kuwano A., Liu L.,
Ignoring: RA Donis-Keller H., Permutt M.A.;
Ignoring: RT "Isolation, characterization, and chromosomal mapping of the huma
n
Ignoring: RT insulin promoter factor 1 (IPF-1) gene.";
Ignoring: RL Diabetes 45:789-794(1996).
Ignoring: RN [3]
Ignoring: RP NUCLEOTIDE SEQUENCE [MRNA].
Ignoring: RC TISSUE=Pancreatic islet;
Ignoring: RA Hiroshi I.;
Ignoring: RL Submitted (JUN-1995) to the EMBL/GenBank/DDBJ databases.
Ignoring: RN [4]
Ignoring: RP NUCLEOTIDE SEQUENCE [MRNA].
Ignoring: RC TISSUE=Pancreatic islet;

Ignoring:
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M.T.;
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RA
RL
RN
RP
RA
RL
RN
RP
RC
RX
RA
RA
RT

Marshak S., Totary H., Cerasi E., Melloul D.;

Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Hara M., Lindner T.H., Paz V.P., Wang X., Iwasaki N., Bell G.I.;
Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Pancreatic islet;
PubMed=9252422; DOI=10.1074/jbc.272.33.20936;
Macfarlane W.M., Smith S.B., James R.F., Clifton A.D., Doza Y.N.,
Cohen P., Docherty K.;
"The p38/reactivating kinase mitogen-activated protein kinase cas

RT

mediates the activation of the transcription factor insulin upstr

RT

factor 1 and insulin gene transcription by high glucose in pancre

RT
RL
RN
RP
RX
RA
RA
RA

beta-cells.";
J. Biol. Chem. 272:20936-20944(1997).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057823; DOI=10.1038/nature02379;
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E.,
Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E

RA
RA

Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.,

Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee

RA
RA
RA
RA
RA
RA

Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S.,
Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M.,
Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J.,
Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E.,
Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French

RA
RA
RA
RA

Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J.,
Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S.,
Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J.,
Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A

RA

King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A

RA
RA
RA
RA
RA
RA

Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S.,
Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S.,
Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A.,
Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby

RA
RA

Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L.,
Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin

RA

Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross

RT
RL
RN
RP

"The DNA sequence and analysis of human chromosome 13.";

Nature 428:522-528(2004).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

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Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J

RA

Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B

RA
RA
RA

Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,

Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.

RA

Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers

RA
RL
RN
RP
RX
RA

Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[9]
INVOLVEMENT IN PAGEN1.
PubMed=8988180; DOI=10.1038/ng0197-106;
Stoffers D.A., Zinkin N.T., Stanojevic V., Clarke W.L., Habener J

RT

"Pancreatic agenesis attributable to a single nucleotide deletion

RT
RL
RN
RP
RX
RA
RT
RT
RL
RN
RP
RX
RA
RA
RT

the human IPF1 gene coding sequence.";

Nat. Genet. 15:106-110(1997).
[10]
INTERACTION WITH SETD7.
PubMed=16141209; DOI=10.1074/jbc.M505741200;
Francis J., Chakrabarti S.K., Garmey J.C., Mirmira R.G.;
"Pdx-1 links histone H3-Lys-4 methylation to RNA polymerase II
elongation during activation of insulin transcription.";
J. Biol. Chem. 280:36244-36253(2005).
[11]
PHOSPHORYLATION AT SER-268 BY HIPK2.
PubMed=20637728; DOI=10.1016/j.bbrc.2010.07.035;
An R., da Silva Xavier G., Semplici F., Vakhshouri S., Hao H.X.,
Rutter J., Pagano M.A., Meggio F., Pinna L.A., Rutter G.A.;
"Pancreatic and duodenal homeobox 1 (PDX1) phosphorylation at ser

RT

269 is HIPK2-dependent and affects PDX1 subnuclear localization."

RL
RN
RP
RX
RA

Biochem. Biophys. Res. Commun. 399:155-161(2010).

[12]
VARIANTS MODY4 ARG-18; ASN-76 AND HIS-197.
PubMed=10545530; DOI=10.1172/JCI7449;
Macfarlane W.M., Frayling T.M., Ellard S., Evans J.C., Allen L.I.

RA

Bulman M.P., Ayres S., Shepherd M., Clark P., Millward A., Demain

RA
RT

Wilkin T., Docherty K., Hattersley A.T.;

"Missense mutations in the insulin promoter factor-1 gene predisp

RT
RL
RN
RP
RX
RA
RA
RT

to type 2 diabetes.";
J. Clin. Invest. 104:R33-R39(1999).
[13]
VARIANTS MODY4 LEU-59; ASN-76 AND PRO-243 INS.
PubMed=10545531; DOI=10.1172/JCI7469;
Hani E.H., Stoffers D.A., Chevre J.-C., Durand E., Stanojevic V.,
Dina C., Habener J.F., Froguel P.;
"Defective mutations in the insulin promoter factor-1 (IPF-1) gen

RT
RL

late-onset type 2 diabetes mellitus.";

J. Clin. Invest. 104:R41-R48(1999).

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-!- 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. As part of a
PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is invol

CC
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in the transcriptional activation of the ELA1 enhancer; the

complex binds to the enhancer B element and cooperates with t

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transcription factor 1 complex (PTF1) bound to the enhancer A

element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3

CC

During development, specifies the early pancreatic epithelium

CC
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permitting its proliferation, branching and subsequent

differentiation. At adult stage, required for maintaining the
hormone-producing phenotype of the beta-cell.
-!- SUBUNIT: Interacts with the basic helix-loop-helix domains of
TCF3(E47) and NEUROD1 and with HMG-I(Y). Interacts with SPOP

CC

similarity). Interacts with the methyltransferase SETD7. Part

CC
CC
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PDX1:PBX1b:MEIS2b complex. {ECO:0000250,

ECO:0000269|PubMed:16141209}.
-!- SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol {ECO:000025

CC

-!- TISSUE SPECIFICITY: Duodenum and pancreas (Langerhans islet b

CC

cells and small subsets of endocrine non-beta-cells, at low l

CC
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in acinar cells).
-!- DOMAIN: The Antp-type hexapeptide mediates heterodimerization

CC
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CC

PBX on a regulatory element of the somatostatin promoter.

{ECO:0000250}.
-!- DOMAIN: The homeodomain, which contains the nuclear localizat

CC

signal, not only mediates DNA-binding, but also acts as a pro

CC

protein interaction domain for TCF3(E47), NEUROD1 and HMG-I(Y

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{ECO:0000250}.
-!- PTM: Phosphorylated by the SAPK2 pathway at high intracellula

CC

glucose concentration. Phosphorylated by HIPK2 on Ser-268 upo

CC

glucose accumulation. This phoyphorylation mediates subnuclea

CC
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localization shifting. Phosphorylation by PASK may lead to

translocation into the cytosol (By similarity). {ECO:0000250}

CC

-!- DISEASE: Pancreatic agenesis 1 (PAGEN1) [MIM:260370]: A disea

CC

characterized by isolated hypoplasia or agenesis of the pancr

CC
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pancreatic beta-cell failure resulting in neonatal insulindependent diabetes mellitus, and exocrine pancreatic
insufficiency. {ECO:0000269|PubMed:8988180}. Note=The disease

CC

caused by mutations affecting the gene represented in this en

try.
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-!- DISEASE: Diabetes mellitus, non-insulin-dependent (NIDDM)

[MIM:125853]: A multifactorial disorder of glucose homeostasi

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caused by a lack of sensitivity to the body's own insulin.

Affected individuals usually have an obese body habitus and
manifestations of a metabolic syndrome characterized by diabe

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insulin resistance, hypertension and hypertriglyceridemia. Th

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disease results in long-term complications that affect the ey

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kidneys, nerves, and blood vessels. Note=Disease susceptibili

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associated with variations affecting the gene represented in

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entry.
-!- DISEASE: Maturity-onset diabetes of the young 4 (MODY4)
[MIM:606392]: 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 d

CC
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in insulin secretion and frequent insulin-independence at the

beginning of the disease. {ECO:0000269|PubMed:10545530,
ECO:0000269|PubMed:10545531}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- MISCELLANEOUS: According to PubMed:16141209, it may be methyl

CC

by SETD7 in vitro. However, the relevance of methylation is u

CC
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in vivo.
-!- SIMILARITY: Belongs to the Antp homeobox family. IPF1/XlHbox-

CC
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subfamily. {ECO:0000305}.
-!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
{ECO:0000255|PROSITE-ProRule:PRU00108}.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Onco

CC
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and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/PDX1ID43921ch13q1

CC

-----------------------------------------------------------------

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Copyrighted by the UniProt Consortium, see http://www.uniprot.org

CC

Distributed under the Creative Commons Attribution-NoDerivs Licen

CC

-----------------------------------------------------------------

DR
DR
DR
DR
DR
DR
DR
DR
DR
DR
DR

EMBL;
EMBL;
EMBL;
EMBL;
EMBL;
EMBL;
EMBL;
EMBL;
EMBL;
EMBL;
CCDS;

U35632; AAA88820.1; -; mRNA.

S82178; AAB47101.1; -; Genomic_DNA.
S82168; AAB47101.1; JOINED; Genomic_DNA.
U30329; AAA74012.1; -; mRNA.
X99894; CAA68169.1; -; mRNA.
AF035260; AAB88463.1; -; Genomic_DNA.
AF035259; AAB88463.1; JOINED; Genomic_DNA.
AF049893; AAC05157.1; -; mRNA.
AL353195; CAH72544.1; -; Genomic_DNA.
CH471075; EAX08420.1; -; Genomic_DNA.
CCDS9327.1; -.

Ignoring: DR PIR; G01926; G01926.

Ignoring: DR RefSeq; NP_000200.1; NM_000209.3.
Ignoring: DR UniGene; Hs.32938; -.
Ignoring: DR ProteinModelPortal; P52945; -.
Ignoring: DR SMR; P52945; 146-205.
Ignoring: DR BioGrid; 109860; 10.
Ignoring: DR IntAct; P52945; 2.
Ignoring: DR MINT; MINT-1894661; -.
Ignoring: DR STRING; 9606.ENSP00000370421; -.
Ignoring: DR PhosphoSite; P52945; -.
Ignoring: DR BioMuta; PDX1; -.
Ignoring: DR DMDM; 1708540; -.
Ignoring: DR PaxDb; P52945; -.
Ignoring: DR PRIDE; P52945; -.
Ignoring: DR DNASU; 3651; -.
Ignoring: DR Ensembl; ENST00000381033; ENSP00000370421; ENSG00000139515.
Ignoring: DR GeneID; 3651; -.
Ignoring: DR KEGG; hsa:3651; -.
Ignoring: DR UCSC; uc001urt.2; human.
Ignoring: DR CTD; 3651; -.
Ignoring: DR GeneCards; PDX1; -.
Ignoring: DR GeneReviews; PDX1; -.
Ignoring: DR HGNC; HGNC:6107; PDX1.
Ignoring: DR HPA; CAB025873; -.
Ignoring: DR HPA; HPA059146; -.
Ignoring: DR MalaCards; PDX1; -.
Ignoring: DR MIM; 125853; phenotype.
Ignoring: DR MIM; 260370; phenotype.
Ignoring: DR MIM; 600733; gene.
Ignoring: DR MIM; 606392; phenotype.
Ignoring: DR neXtProt; NX_P52945; -.
Ignoring: DR Orphanet; 552; MODY.
Ignoring: DR Orphanet; 2805; Partial pancreatic agenesis.
Ignoring: DR Orphanet; 99885; Permanent neonatal diabetes mellitus.
Ignoring: DR PharmGKB; PA162399173; -.
Ignoring: DR eggNOG; KOG0489; Eukaryota.
Ignoring: DR eggNOG; ENOG410ZTBY; LUCA.
Ignoring: DR GeneTree; ENSGT00760000118945; -.
Ignoring: DR HOGENOM; HOG000115484; -.
Ignoring: DR HOVERGEN; HBG004525; -.
Ignoring: DR InParanoid; P52945; -.
Ignoring: DR KO; K07594; -.
Ignoring: DR OMA; PPPCLYM; -.
Ignoring: DR OrthoDB; EOG744TB4; -.
Ignoring: DR PhylomeDB; P52945; -.
Ignoring: DR TreeFam; TF326223; -.
Ignoring: DR Reactome; R-HSA-210745; Regulation of gene expression in beta cel
ls.
Ignoring: DR Reactome; R-HSA-210747; Regulation of gene expression in early pa
ncreatic precursor cells.
Ignoring: DR SignaLink; P52945; -.
Ignoring: DR GeneWiki; PDX1; -.
Ignoring: DR GenomeRNAi; 3651; -.
Ignoring: DR NextBio; 14279; -.
Ignoring: DR PRO; PR:P52945; -.
Ignoring: DR Proteomes; UP000005640; Chromosome 13.
Ignoring: DR Bgee; P52945; -.
Ignoring: DR CleanEx; HS_PDX1; -.
Ignoring: DR Genevisible; P52945; HS.
Ignoring: DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.

Ignoring: DR GO; GO:0016607; C:nuclear speck; IEA:Ensembl.

Ignoring: DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
Ignoring: DR GO; GO:0001046; F:core promoter sequence-specific DNA binding; IE
A:Ensembl.
Ignoring: DR GO; GO:0000978; F:RNA polymerase II core promoter proximal region
sequence-specific DNA binding; IEA:Ensembl.
Ignoring: DR GO; GO:0003705; F:transcription factor activity, RNA polymerase I
I distal enhancer sequence-specific binding; IEA:Ensembl.
Ignoring: DR GO; GO:0003700; F:transcription factor activity, sequence-specifi
c DNA binding; TAS:BHF-UCL.
Ignoring: DR GO; GO:0007417; P:central nervous system development; IEA:Ensembl
.
Ignoring: DR GO; GO:0051594; P:detection of glucose; ISS:BHF-UCL.
Ignoring: DR GO; GO:0048565; P:digestive tract development; IEA:Ensembl.
Ignoring: DR GO; GO:0031018; P:endocrine pancreas development; TAS:Reactome.
Ignoring: DR GO; GO:0031017; P:exocrine pancreas development; IEA:Ensembl.
Ignoring: DR GO; GO:0006091; P:generation of precursor metabolites and energy;
TAS:ProtInc.
Ignoring: DR GO; GO:0042593; P:glucose homeostasis; IEA:Ensembl.
Ignoring: DR GO; GO:0006006; P:glucose metabolic process; IEA:Ensembl.
Ignoring: DR GO; GO:0030073; P:insulin secretion; IDA:BHF-UCL.
Ignoring: DR GO; GO:0001889; P:liver development; IEA:Ensembl.
Ignoring: DR GO; GO:0016331; P:morphogenesis of embryonic epithelium; IEA:Ense
mbl.
Ignoring: DR GO; GO:0008285; P:negative regulation of cell proliferation; IEA:
Ensembl.
Ignoring: DR GO; GO:1902236; P:negative regulation of endoplasmic reticulum st
ress-induced intrinsic apoptotic signaling pathway; IEA:Ensembl.
Ignoring: DR GO; GO:0000122; P:negative regulation of transcription from RNA p
olymerase II promoter; IEA:Ensembl.
Ignoring: DR GO; GO:2000675; P:negative regulation of type B pancreatic cell a
poptotic process; IEA:Ensembl.
Ignoring: DR GO; GO:0007263; P:nitric oxide mediated signal transduction; IDA:
BHF-UCL.
Ignoring: DR GO; GO:0009887; P:organ morphogenesis; TAS:ProtInc.
Ignoring: DR GO; GO:0031100; P:organ regeneration; IEA:Ensembl.
Ignoring: DR GO; GO:0010260; P:organ senescence; IEA:Ensembl.
Ignoring: DR GO; GO:0010942; P:positive regulation of cell death; IEA:Ensembl.
Ignoring: DR GO; GO:0008284; P:positive regulation of cell proliferation; IEA:
Ensembl.
Ignoring: DR GO; GO:0043388; P:positive regulation of DNA binding; IEA:Ensembl
.
Ignoring: DR GO; GO:0035774; P:positive regulation of insulin secretion involv
ed in cellular response to glucose stimulus; IEA:Ensembl.
Ignoring: DR GO; GO:0045944; P:positive regulation of transcription from RNA p
olymerase II promoter; ISS:BHF-UCL.
Ignoring: DR GO; GO:0010157; P:response to chlorate; IEA:Ensembl.
Ignoring: DR GO; GO:0034097; P:response to cytokine; IEA:Ensembl.
Ignoring: DR GO; GO:0042493; P:response to drug; IEA:Ensembl.
Ignoring: DR GO; GO:0070542; P:response to fatty acid; IEA:Ensembl.
Ignoring: DR GO; GO:0051384; P:response to glucocorticoid; IEA:Ensembl.
Ignoring: DR GO; GO:0010040; P:response to iron(II) ion; IEA:Ensembl.
Ignoring: DR GO; GO:0043201; P:response to leucine; IEA:Ensembl.
Ignoring: DR GO; GO:0035094; P:response to nicotine; IEA:Ensembl.
Ignoring: DR GO; GO:0033273; P:response to vitamin; IEA:Ensembl.
Ignoring: DR GO; GO:0009611; P:response to wounding; IEA:Ensembl.
Ignoring: DR GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
Ignoring: DR GO; GO:0048863; P:stem cell differentiation; IEA:Ensembl.
Ignoring: DR GO; GO:0006366; P:transcription from RNA polymerase II promoter;
TAS:ProtInc.

Ignoring:
Ignoring:
-UCL.
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
us;
Ignoring:
Ignoring:
Ignoring:
.
Ignoring:
Ignoring:
Ignoring:
Ignoring:
}.
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
250}.
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
al
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:
Ignoring:

DR
DR

GO; GO:0060290; P:transdifferentiation; IEA:Ensembl.

GO; GO:0003309; P:type B pancreatic cell differentiation; IDA:BHF

DR
DR
DR
DR
DR
DR
DR
DR
DR
DR
DR
DR
DR
PE
KW
KW

Gene3D; 1.10.10.60; -; 1.
InterPro; IPR017995; Homeobox_antennapedia.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR020479; Homeobox_metazoa.
InterPro; IPR009057; Homeodomain-like.
Pfam; PF00046; Homeobox; 1.
PRINTS; PR00025; ANTENNAPEDIA.
PRINTS; PR00024; HOMEOBOX.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
1: Evidence at protein level;
Activator; Complete proteome; Cytoplasm; Developmental protein;
Diabetes mellitus; Disease mutation; DNA-binding; Homeobox; Nucle

KW
KW
FT

Phosphoprotein; Polymorphism; Reference proteome; Transcription;

Transcription regulation.
CHAIN
1
283
Pancreas/duodenum homeobox protein 1

FT
FT
FT
FT

DNA_BIND

146

205

REGION

13

73

FT
FT
FT
FT
FT
FT
FT

MOTIF
MOTIF

118
197

123
203

COMPBIAS
COMPBIAS
COMPBIAS
MOD_RES

42
216
239
151

51
219
244
151

FT
FT
FT
FT
FT
FT
FT
FT
FT

MOD_RES

268

268

VARIANT

18

18

VARIANT

59

59

VARIANT

76

76

FT
FT
FT
FT
FT
FT
FT
FT
FT
FT
FT
FT
FT

VARIANT

197

197

VARIANT

243

243

CONFLICT

56

56

CONFLICT

116

116

/FTId=PRO_0000049147.
Homeobox. {ECO:0000255|PROSITEProRule:PRU00108}.
Transactivation domain. {ECO:0000250
Antp-type hexapeptide.
Nuclear localization signal.
{ECO:0000250}.
Poly-Pro.
Poly-Gly.
Poly-Pro.
Phosphothreonine; by PASK. {ECO:0000
Phosphoserine; by HIPK2.
{ECO:0000269|PubMed:20637728}.
C -> R (in MODY4).
{ECO:0000269|PubMed:10545530}.
/FTId=VAR_009309.
Q -> L (in MODY4).
{ECO:0000269|PubMed:10545531}.
/FTId=VAR_009310.
D -> N (in MODY4; unknown pathologic
significance).
{ECO:0000269|PubMed:10545530,
ECO:0000269|PubMed:10545531}.
/FTId=VAR_009311.
R -> H (in MODY4).
{ECO:0000269|PubMed:10545530}.
/FTId=VAR_009312.
P -> PP (in MODY4).
{ECO:0000269|PubMed:10545531}.
/FTId=VAR_009313.
A -> S (in Ref. 6; AAC05157).
{ECO:0000305}.
Q -> H (in Ref. 6; AAC05157).

Ignoring: FT
{ECO:0000305}.
Ignoring: FT CONFLICT
210
211
GG -> SS (in Ref. 6; AAC05157).
Ignoring: FT
{ECO:0000305}.
Ignoring: SQ SEQUENCE 283 AA; 30771 MW; 5D48EC8D3289F72B CRC64;
Ignoring: MNGEEQYYAA TQLYKDPCAF QRGPAPEFSA SPPACLYMGR QPPPPPPHPF PGALGALEQG
Ignoring: SPPDISPYEV PPLADDPAVA HLHHHLPAQL ALPHPPAGPF PEGAEPGVLE EPNRVQLPFP
Ignoring: WMKSTKAHAW KGQWAGGAYA AEPEENKRTR TAYTRAQLLE LEKEFLFNKY ISRPRRVELA
Ignoring: VMLNLTERHI KIWFQNRRMK WKKEEDKKRG GGTAVGGGGV AEPEQDCAVT SGEELLALPP
Ignoring: PPPPGGAVPP AAPVAAREGR LPPGLSASPQ PSSVAPRRPQ EPR
PDX1_HUMAN
Reviewed;
283 AA.
RecName: Full=Pancreas/duodenum homeobox protein 1; Short=PDX-1; AltName: Full=G
lucose-sensitive factor; Short=GSF; AltName: Full=Insulin promoter factor 1; Sho
rt=IPF-1; AltName: Full=Insulin upstream factor 1; Short=IUF-1; AltName: Full=Is
let/duodenum homeobox-1; Short=IDX-1; AltName: Full=Somatostatin-transactivating
factor 1; Short=STF-1;