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P52945

- PDX1_HUMAN

UniProt

P52945 - PDX1_HUMAN

Protein

Pancreas/duodenum homeobox protein 1

Gene

PDX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    Functioni

    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 involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. 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.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi146 – 20560HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. core promoter sequence-specific DNA binding Source: Ensembl
    3. sequence-specific DNA binding transcription factor activity Source: BHF-UCL

    GO - Biological processi

    1. central nervous system development Source: Ensembl
    2. detection of glucose Source: BHF-UCL
    3. digestive tract development Source: Ensembl
    4. endocrine pancreas development Source: Reactome
    5. exocrine pancreas development Source: Ensembl
    6. generation of precursor metabolites and energy Source: ProtInc
    7. glucose homeostasis Source: Ensembl
    8. glucose metabolic process Source: Ensembl
    9. insulin secretion Source: BHF-UCL
    10. liver development Source: Ensembl
    11. morphogenesis of embryonic epithelium Source: Ensembl
    12. negative regulation of cell proliferation Source: Ensembl
    13. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    14. nitric oxide mediated signal transduction Source: BHF-UCL
    15. organ morphogenesis Source: ProtInc
    16. organ regeneration Source: Ensembl
    17. organ senescence Source: Ensembl
    18. positive regulation of cell death Source: Ensembl
    19. positive regulation of cell proliferation Source: Ensembl
    20. positive regulation of DNA binding Source: Ensembl
    21. positive regulation of insulin secretion Source: Ensembl
    22. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    23. response to chlorate Source: Ensembl
    24. response to cytokine Source: Ensembl
    25. response to drug Source: Ensembl
    26. response to fatty acid Source: Ensembl
    27. response to glucocorticoid Source: Ensembl
    28. response to iron(II) ion Source: Ensembl
    29. response to leucine Source: Ensembl
    30. response to nicotine Source: Ensembl
    31. response to vitamin Source: Ensembl
    32. response to wounding Source: Ensembl
    33. smoothened signaling pathway Source: Ensembl
    34. stem cell differentiation Source: Ensembl
    35. transcription from RNA polymerase II promoter Source: ProtInc
    36. transdifferentiation Source: Ensembl
    37. type B pancreatic cell differentiation Source: BHF-UCL

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_13778. Regulation of gene expression in early pancreatic precursor cells.
    REACT_13819. Regulation of gene expression in beta cells.
    SignaLinkiP52945.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pancreas/duodenum homeobox protein 1
    Short name:
    PDX-1
    Alternative name(s):
    Glucose-sensitive factor
    Short name:
    GSF
    Insulin promoter factor 1
    Short name:
    IPF-1
    Insulin upstream factor 1
    Short name:
    IUF-1
    Islet/duodenum homeobox-1
    Short name:
    IDX-1
    Somatostatin-transactivating factor 1
    Short name:
    STF-1
    Gene namesi
    Name:PDX1
    Synonyms:IPF1, STF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:6107. PDX1.

    Subcellular locationi

    Nucleus. Cytoplasmcytosol By similarity

    GO - Cellular componenti

    1. cytosol Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Pancreatic agenesis, congenital (PAGEN) [MIM:260370]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis 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 diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    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 defect in insulin secretion and frequent insulin-independence at the beginning of the disease.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181C → R in MODY4. 1 Publication
    VAR_009309
    Natural varianti59 – 591Q → L in MODY4. 1 Publication
    VAR_009310
    Natural varianti76 – 761D → N in MODY4; unknown pathological significance. 2 Publications
    VAR_009311
    Natural varianti197 – 1971R → H in MODY4. 1 Publication
    VAR_009312
    Natural varianti243 – 2431P → PP in MODY4. 1 Publication
    VAR_009313

    Keywords - Diseasei

    Diabetes mellitus, Disease mutation

    Organism-specific databases

    MIMi125853. phenotype.
    260370. phenotype.
    606392. phenotype.
    Orphaneti552. MODY syndrome.
    2805. Partial pancreatic agenesis.
    99885. Permanent neonatal diabetes mellitus.
    PharmGKBiPA162399173.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 283283Pancreas/duodenum homeobox protein 1PRO_0000049147Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei151 – 1511Phosphothreonine; by PASKBy similarity
    Modified residuei268 – 2681Phosphoserine; by HIPK21 Publication

    Post-translational modificationi

    Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration. Phosphorylated by HIPK2 on Ser-268 upon glucose accumulation. This phoyphorylation mediates subnuclear localization shifting. Phosphorylation by PASK may lead to translocation into the cytosol By similarity.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiP52945.
    PRIDEiP52945.

    PTM databases

    PhosphoSiteiP52945.

    Expressioni

    Tissue specificityi

    Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).

    Gene expression databases

    BgeeiP52945.
    CleanExiHS_PDX1.
    GenevestigatoriP52945.

    Organism-specific databases

    HPAiCAB025873.

    Interactioni

    Subunit structurei

    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. Part of a PDX1:PBX1b:MEIS2b complex.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi109860. 10 interactions.
    IntActiP52945. 2 interactions.
    MINTiMINT-1894661.
    STRINGi9606.ENSP00000370421.

    Structurei

    3D structure databases

    ProteinModelPortaliP52945.
    SMRiP52945. Positions 146-205.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni13 – 7361Transactivation domainBy similarityAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi118 – 1236Antp-type hexapeptide
    Motifi197 – 2037Nuclear localization signalBy similarity

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi42 – 5110Poly-Pro
    Compositional biasi216 – 2194Poly-Gly
    Compositional biasi239 – 2446Poly-Pro

    Domaini

    The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin promoter.By similarity
    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

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG271681.
    HOGENOMiHOG000115484.
    HOVERGENiHBG004525.
    InParanoidiP52945.
    KOiK07594.
    OMAiCLYMSRQ.
    OrthoDBiEOG744TB4.
    PhylomeDBiP52945.
    TreeFamiTF326223.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017995. Homeobox_antennapedia.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00025. ANTENNAPEDIA.
    PR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P52945-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNGEEQYYAA TQLYKDPCAF QRGPAPEFSA SPPACLYMGR QPPPPPPHPF    50
    PGALGALEQG SPPDISPYEV PPLADDPAVA HLHHHLPAQL ALPHPPAGPF 100
    PEGAEPGVLE EPNRVQLPFP WMKSTKAHAW KGQWAGGAYA AEPEENKRTR 150
    TAYTRAQLLE LEKEFLFNKY ISRPRRVELA VMLNLTERHI KIWFQNRRMK 200
    WKKEEDKKRG GGTAVGGGGV AEPEQDCAVT SGEELLALPP PPPPGGAVPP 250
    AAPVAAREGR LPPGLSASPQ PSSVAPRRPQ EPR 283
    Length:283
    Mass (Da):30,771
    Last modified:October 1, 1996 - v1
    Checksum:i5D48EC8D3289F72B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti56 – 561A → S in AAC05157. (PubMed:9252422)Curated
    Sequence conflicti116 – 1161Q → H in AAC05157. (PubMed:9252422)Curated
    Sequence conflicti210 – 2112GG → SS in AAC05157. (PubMed:9252422)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181C → R in MODY4. 1 Publication
    VAR_009309
    Natural varianti59 – 591Q → L in MODY4. 1 Publication
    VAR_009310
    Natural varianti76 – 761D → N in MODY4; unknown pathological significance. 2 Publications
    VAR_009311
    Natural varianti197 – 1971R → H in MODY4. 1 Publication
    VAR_009312
    Natural varianti243 – 2431P → PP in MODY4. 1 Publication
    VAR_009313

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U35632 mRNA. Translation: AAA88820.1.
    S82178, S82168 Genomic DNA. Translation: AAB47101.1.
    U30329 mRNA. Translation: AAA74012.1.
    X99894 mRNA. Translation: CAA68169.1.
    AF035260, AF035259 Genomic DNA. Translation: AAB88463.1.
    AF049893 mRNA. Translation: AAC05157.1.
    AL353195 Genomic DNA. Translation: CAH72544.1.
    CH471075 Genomic DNA. Translation: EAX08420.1.
    CCDSiCCDS9327.1.
    PIRiG01926.
    RefSeqiNP_000200.1. NM_000209.3.
    UniGeneiHs.32938.

    Genome annotation databases

    EnsembliENST00000381033; ENSP00000370421; ENSG00000139515.
    GeneIDi3651.
    KEGGihsa:3651.
    UCSCiuc001urt.2. human.

    Polymorphism databases

    DMDMi1708540.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U35632 mRNA. Translation: AAA88820.1 .
    S82178 , S82168 Genomic DNA. Translation: AAB47101.1 .
    U30329 mRNA. Translation: AAA74012.1 .
    X99894 mRNA. Translation: CAA68169.1 .
    AF035260 , AF035259 Genomic DNA. Translation: AAB88463.1 .
    AF049893 mRNA. Translation: AAC05157.1 .
    AL353195 Genomic DNA. Translation: CAH72544.1 .
    CH471075 Genomic DNA. Translation: EAX08420.1 .
    CCDSi CCDS9327.1.
    PIRi G01926.
    RefSeqi NP_000200.1. NM_000209.3.
    UniGenei Hs.32938.

    3D structure databases

    ProteinModelPortali P52945.
    SMRi P52945. Positions 146-205.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109860. 10 interactions.
    IntActi P52945. 2 interactions.
    MINTi MINT-1894661.
    STRINGi 9606.ENSP00000370421.

    PTM databases

    PhosphoSitei P52945.

    Polymorphism databases

    DMDMi 1708540.

    Proteomic databases

    PaxDbi P52945.
    PRIDEi P52945.

    Protocols and materials databases

    DNASUi 3651.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000381033 ; ENSP00000370421 ; ENSG00000139515 .
    GeneIDi 3651.
    KEGGi hsa:3651.
    UCSCi uc001urt.2. human.

    Organism-specific databases

    CTDi 3651.
    GeneCardsi GC13P028494.
    GeneReviewsi PDX1.
    HGNCi HGNC:6107. PDX1.
    HPAi CAB025873.
    MIMi 125853. phenotype.
    260370. phenotype.
    600733. gene.
    606392. phenotype.
    neXtProti NX_P52945.
    Orphaneti 552. MODY syndrome.
    2805. Partial pancreatic agenesis.
    99885. Permanent neonatal diabetes mellitus.
    PharmGKBi PA162399173.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG271681.
    HOGENOMi HOG000115484.
    HOVERGENi HBG004525.
    InParanoidi P52945.
    KOi K07594.
    OMAi CLYMSRQ.
    OrthoDBi EOG744TB4.
    PhylomeDBi P52945.
    TreeFami TF326223.

    Enzyme and pathway databases

    Reactomei REACT_13778. Regulation of gene expression in early pancreatic precursor cells.
    REACT_13819. Regulation of gene expression in beta cells.
    SignaLinki P52945.

    Miscellaneous databases

    GeneWikii PDX1.
    GenomeRNAii 3651.
    NextBioi 14279.
    PROi P52945.
    SOURCEi Search...

    Gene expression databases

    Bgeei P52945.
    CleanExi HS_PDX1.
    Genevestigatori P52945.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017995. Homeobox_antennapedia.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00025. ANTENNAPEDIA.
    PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1."
      Stoffel M., Stein R., Wright C.V., Espinosa R. III, le Beau M.M., Bell G.I.
      Genomics 28:125-126(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene."
      Inoue H., Riggs A.C., Tanizawa Y., Ueda K., Kuwano A., Liu L., Donis-Keller H., Permutt M.A.
      Diabetes 45:789-794(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Pancreatic islet.
    3. Hiroshi I.
      Submitted (JUN-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Pancreatic islet.
    4. Marshak S., Totary H., Cerasi E., Melloul D.
      Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Pancreatic islet.
    5. Hara M., Lindner T.H., Paz V.P., Wang X., Iwasaki N., Bell G.I.
      Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    6. "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."
      Macfarlane W.M., Smith S.B., James R.F., Clifton A.D., Doza Y.N., Cohen P., Docherty K.
      J. Biol. Chem. 272:20936-20944(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Pancreatic islet.
    7. "The DNA sequence and analysis of human chromosome 13."
      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., 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., 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 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., 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 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.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence."
      Stoffers D.A., Zinkin N.T., Stanojevic V., Clarke W.L., Habener J.F.
      Nat. Genet. 15:106-110(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN PAGEN.
    10. "Pdx-1 links histone H3-Lys-4 methylation to RNA polymerase II elongation during activation of insulin transcription."
      Francis J., Chakrabarti S.K., Garmey J.C., Mirmira R.G.
      J. Biol. Chem. 280:36244-36253(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SETD7.
    11. "Pancreatic and duodenal homeobox 1 (PDX1) phosphorylation at serine-269 is HIPK2-dependent and affects PDX1 subnuclear localization."
      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.
      Biochem. Biophys. Res. Commun. 399:155-161(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-268 BY HIPK2.
    12. Cited for: VARIANTS MODY4 ARG-18; ASN-76 AND HIS-197.
    13. "Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus."
      Hani E.H., Stoffers D.A., Chevre J.-C., Durand E., Stanojevic V., Dina C., Habener J.F., Froguel P.
      J. Clin. Invest. 104:R41-R48(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY4 LEU-59; ASN-76 AND PRO-243 INS.

    Entry informationi

    Entry nameiPDX1_HUMAN
    AccessioniPrimary (citable) accession number: P52945
    Secondary accession number(s): O60594, Q5VYW2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 147 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    According to PubMed:16141209, it may be methylated by SETD7 in vitro. However, the relevance of methylation is unsure in vivo.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3