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P20823

- HNF1A_HUMAN

UniProt

P20823 - HNF1A_HUMAN

Protein

Hepatocyte nuclear factor 1-alpha

Gene

HNF1A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 183 (01 Oct 2014)
      Sequence version 2 (16 Aug 2004)
      Previous versions | rss
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    Functioni

    Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi199 – 27981Homeobox; HNF1-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. protein dimerization activity Source: UniProtKB
    4. protein heterodimerization activity Source: UniProtKB
    5. protein homodimerization activity Source: UniProtKB
    6. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: BHF-UCL
    7. sequence-specific DNA binding Source: InterPro
    8. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    9. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. glucose homeostasis Source: UniProtKB
    2. glucose import Source: UniProtKB
    3. insulin secretion Source: UniProtKB
    4. positive regulation of transcription, DNA-templated Source: UniProtKB
    5. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    6. positive regulation of transcription initiation from RNA polymerase II promoter Source: UniProtKB
    7. regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    8. renal glucose absorption Source: UniProtKB

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_13819. Regulation of gene expression in beta cells.
    SignaLinkiP20823.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hepatocyte nuclear factor 1-alpha
    Short name:
    HNF-1-alpha
    Short name:
    HNF-1A
    Alternative name(s):
    Liver-specific transcription factor LF-B1
    Short name:
    LFB1
    Transcription factor 1
    Short name:
    TCF-1
    Gene namesi
    Name:HNF1A
    Synonyms:TCF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:11621. HNF1A.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB
    3. protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Hepatic adenomas familial (HEPAF) [MIM:142330]: Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).
    Note: The disease is caused by mutations affecting the gene represented in this entry. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the developmant of some hepatocellular carcinomas.
    Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]: 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.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121L → H in MODY3; abolishes interaction with PCBD1 and DNA. 2 Publications
    VAR_010537
    Natural varianti20 – 201G → R in MODY3; abolishes interaction with PCBD1 and DNA. 1 Publication
    VAR_012483
    Natural varianti31 – 311G → D in MODY3; no effect on interaction with PCBD1 and DNA. 1 Publication
    VAR_010538
    Natural varianti107 – 1071L → R in MODY3. 1 Publication
    VAR_010541
    Natural varianti117 – 1171K → E in MODY3. 1 Publication
    VAR_010542
    Natural varianti122 – 1221Y → C in MODY3. 1 Publication
    VAR_003756
    Natural varianti128 – 1281I → N in MODY3. 1 Publication
    VAR_010543
    Natural varianti129 – 1291P → T in MODY3. 1 Publication
    VAR_010544
    Natural varianti131 – 1311R → Q in MODY3; expected to interfere with DNA binding. 2 Publications
    VAR_010545
    Natural varianti131 – 1311R → W in MODY3; expected to interfere with DNA binding. 2 Publications
    VAR_010546
    Natural varianti133 – 1331V → M in MODY3.
    VAR_010547
    Natural varianti142 – 1421S → F in MODY3; reduces transcription activation by about 80%. 1 Publication
    VAR_003757
    Natural varianti143 – 1431H → Y in MODY3; expected to interfere with DNA binding. 2 Publications
    VAR_010548
    Natural varianti158 – 1581K → N in MODY3; expected to interfere with DNA binding. 1 Publication
    VAR_010549
    Natural varianti159 – 1591R → Q in MODY3. 2 Publications
    VAR_003758
    Natural varianti159 – 1591R → W in MODY3. 2 Publications
    VAR_010550
    Natural varianti161 – 1611A → T in MODY3. 1 Publication
    VAR_010551
    Natural varianti200 – 2001R → W in MODY3; expected to interfere with nuclear localization. 1 Publication
    VAR_063069
    Natural varianti203 – 2031R → C in MODY3; expected to interfere with nuclear localization and DNA binding. 1 Publication
    VAR_010554
    Natural varianti203 – 2031R → H in MODY3; expected to interfere with nuclear localization and DNA binding. 1 Publication
    VAR_012484
    Natural varianti205 – 2051K → Q in MODY3; reduces transcription activation by about 50%. 1 Publication
    VAR_010555
    Natural varianti229 – 2291R → Q in MODY3. 1 Publication
    VAR_010556
    Natural varianti241 – 2411C → G in IDDM20 and MODY3. 2 Publications
    VAR_010557
    Natural varianti259 – 2591V → D in MODY3.
    VAR_010559
    Natural varianti260 – 2601T → M in MODY3. 1 Publication
    VAR_010560
    Natural varianti263 – 2631R → C in MODY3; expected to interfere with DNA binding. 1 Publication
    VAR_010561
    Natural varianti271 – 2711R → W in MODY3. 1 Publication
    VAR_010562
    Natural varianti272 – 2721R → H in IDDM20 and MODY3. 3 Publications
    VAR_003759
    Natural varianti432 – 4321S → C in MODY3. 1 Publication
    VAR_012485
    Natural varianti447 – 4471P → L in MODY3. 2 Publications
    VAR_003760
    Natural varianti519 – 5191P → L in MODY3. 1 Publication
    VAR_010567
    Natural varianti537 – 5371T → R in MODY3; incomplete penetrance. 1 Publication
    VAR_010568
    Natural varianti594 – 5941S → I in MODY3.
    VAR_010571
    Natural varianti618 – 6181I → M in MODY3. 1 Publication
    VAR_012486
    Natural varianti619 – 6191E → K in MODY3. 1 Publication
    VAR_010572
    Natural varianti620 – 6201T → I in MODY3; incomplete penetrance. 2 Publications
    VAR_010573
    Diabetes mellitus, insulin-dependent, 20 (IDDM20) [MIM:612520]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.3 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481E → K in IDDM20. 1 Publication
    VAR_010539
    Natural varianti241 – 2411C → G in IDDM20 and MODY3. 2 Publications
    VAR_010557
    Natural varianti272 – 2721R → H in IDDM20 and MODY3. 3 Publications
    VAR_003759
    Natural varianti415 – 4151G → R in IDDM20; loss of function. 1 Publication
    VAR_010565
    Natural varianti583 – 5831R → G in IDDM20. 1 Publication
    VAR_003761

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi127 – 1271N → W: Abolishes transcription activation. 1 Publication
    Mutagenesisi132 – 1321E → K: Abolishes transcription activation. 1 Publication
    Mutagenesisi177 – 1771F → S: No significant effect on transcription activation. 1 Publication
    Mutagenesisi186 – 1861I → Q: No effect on transcription activation. 1 Publication
    Mutagenesisi190 – 1901T → Q: No effect on transcription activation. 1 Publication
    Mutagenesisi202 – 2021N → D: Reduces transcription activation by 70%. 1 Publication
    Mutagenesisi246 – 2461V → D: Reduces transcription activation by 75%. 1 Publication
    Mutagenesisi257 – 2571N → W: Reduces transcription activation by 70%. 1 Publication

    Keywords - Diseasei

    Diabetes mellitus, Disease mutation

    Organism-specific databases

    MIMi142330. phenotype.
    600496. phenotype.
    606391. phenotype.
    612520. phenotype.
    Orphaneti324575. Hyperinsulinism due to HNF1A deficiency.
    552. MODY syndrome.
    PharmGKBiPA36380.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 631631Hepatocyte nuclear factor 1-alphaPRO_0000049115Add
    BLAST

    Proteomic databases

    MaxQBiP20823.
    PaxDbiP20823.
    PRIDEiP20823.

    PTM databases

    PhosphoSiteiP20823.

    Expressioni

    Tissue specificityi

    Liver.

    Gene expression databases

    ArrayExpressiP20823.
    BgeeiP20823.
    CleanExiHS_HNF1A.
    GenevestigatoriP20823.

    Organism-specific databases

    HPAiCAB010430.
    HPA035231.

    Interactioni

    Subunit structurei

    Binds DNA as a dimer. Interacts with PCBD1. Heterotetramer with PCBD1; formed by a dimer of dimers.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DYRK1BQ9Y4634EBI-636034,EBI-634187
    PROX1Q927863EBI-636034,EBI-3912635

    Protein-protein interaction databases

    BioGridi112789. 37 interactions.
    DIPiDIP-33544N.
    IntActiP20823. 9 interactions.
    STRINGi9606.ENSP00000257555.

    Structurei

    Secondary structure

    1
    631
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi4 – 1916
    Helixi23 – 308
    Helixi94 – 10714
    Helixi112 – 12514
    Helixi130 – 1378
    Helixi141 – 1499
    Helixi156 – 16914
    Turni170 – 1734
    Helixi174 – 1774
    Helixi208 – 22114
    Turni226 – 2294
    Helixi230 – 24314
    Helixi255 – 2573
    Helixi261 – 27414

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1IC8X-ray2.60A/B85-278[»]
    2GYPX-ray1.40A/B2-32[»]
    ProteinModelPortaliP20823.
    SMRiP20823. Positions 2-31, 85-286.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP20823.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 3131DimerizationAdd
    BLAST
    Regioni130 – 1323Interaction with DNA
    Regioni143 – 1497Interaction with DNA
    Regioni155 – 1584Interaction with DNA
    Regioni203 – 2064Interaction with DNA
    Regioni263 – 2653Interaction with DNA
    Regioni270 – 2734Interaction with DNA

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi197 – 2059Nuclear localization signalCurated

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi71 – 8010Asp/Glu-rich (acidic; potential involvement with transcription)

    Sequence similaritiesi

    Belongs to the HNF1 homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG79356.
    HOGENOMiHOG000015305.
    HOVERGENiHBG005980.
    InParanoidiP20823.
    KOiK08036.
    OMAiSHVAQSP.
    OrthoDBiEOG769ZJ9.
    PhylomeDBiP20823.
    TreeFamiTF320327.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    1.10.260.40. 1 hit.
    InterProiIPR006899. HNF-1_N.
    IPR023219. HNF1_dimer_dom.
    IPR006898. HNF1a_C.
    IPR006897. HNF1b_C.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    [Graphical view]
    PfamiPF04814. HNF-1_N. 1 hit.
    PF04813. HNF-1A_C. 1 hit.
    PF04812. HNF-1B_C. 1 hit.
    PF00046. Homeobox. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF100957. SSF100957. 1 hit.
    SSF46689. SSF46689. 1 hit.
    SSF47413. SSF47413. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: P20823-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC    50
    GGGRGELAEL PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ 100
    KAVVETLLQE DPWRVAKMVK SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK 150
    GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA GQGGLIEEPT GDELPTKKGR 200
    RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE CIQRGVSPSQ 250
    AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP 300
    AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ 350
    VSPTGLEPSH SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP 400
    QNLIMASLPG VMTIGPGEPA SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN 450
    SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV QSHVTQSPFM ATMAQLQSPH 500
    ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK QVFTSDTEAS 550
    SESGLHTPAS QATTLHVPSQ DPAGIQHLQP AHRLSASPTV SSSSLVLYQS 600
    SDSSNGQSHL LPSNHSVIET FISTQMASSS Q 631
    Length:631
    Mass (Da):67,356
    Last modified:August 16, 2004 - v2
    Checksum:i8327CD4FDC39254A
    GO
    Isoform B (identifier: P20823-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         501-542: ALYSHKPEVA...LASLTPTKQV → GEHPVPHTAG...ACVSGTSVFP
         543-601: Missing.

    Show »
    Length:572
    Mass (Da):61,112
    Checksum:iE9BD79E885C2E3C0
    GO
    Isoform C (identifier: P20823-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         438-494: LASTQAQSVP...TQSPFMATMA → KLVGMGGHLG...SHCATSVIPG
         495-601: Missing.

    Show »
    Length:524
    Mass (Da):55,930
    Checksum:iF6855702DE665780
    GO
    Isoform 4 (identifier: P20823-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         176-278: QFTHAGQGGL...ANRRKEEAFR → RRNASREGCP...QKYPQAAAVP
         279-631: Missing.

    Show »
    Length:278
    Mass (Da):30,407
    Checksum:i1AB561D8993D268F
    GO
    Isoform 5 (identifier: P20823-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         239-247: AECIQRGVS → CALWTACDQ
         248-631: Missing.

    Show »
    Length:247
    Mass (Da):27,519
    Checksum:i65A8988847FC27DF
    GO
    Isoform 6 (identifier: P20823-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-117: Missing.
         438-520: LASTQAQSVP...QYTHTGLLPQ → KLVGMGGHLG...NTSILWYLRR
         521-631: Missing.

    Show »
    Length:403
    Mass (Da):43,469
    Checksum:i5D22409F773364C6
    GO
    Isoform 7 (identifier: P20823-7) [UniParc]FASTAAdd to Basket

    Also known as: insIVS8

    The sequence of this isoform differs from the canonical sequence as follows:
         540-540: K → KQVRSRPAGPPLACDRAPHPHIPRAQEAALLP

    Note: Due to intron retention.Curated

    Show »
    Length:662
    Mass (Da):70,661
    Checksum:iFCCE6C78F8F6676F
    GO
    Isoform 8 (identifier: P20823-8) [UniParc]FASTAAdd to Basket

    Also known as: delta 2

    The sequence of this isoform differs from the canonical sequence as follows:
         110-119: EDPWRVAKMV → VHPCRAGRAD
         120-631: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:119
    Mass (Da):12,491
    Checksum:i136DC46C438C5BC9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Isoform 7 (identifier: P20823-7)
    Sequence conflicti551 – 5511L → S in ADK56177. 1 PublicationCurated

    Polymorphismi

    The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121L → H in MODY3; abolishes interaction with PCBD1 and DNA. 2 Publications
    VAR_010537
    Natural varianti20 – 201G → R in MODY3; abolishes interaction with PCBD1 and DNA. 1 Publication
    VAR_012483
    Natural varianti27 – 271I → L.7 Publications
    Corresponds to variant rs1169288 [ dbSNP | Ensembl ].
    VAR_007905
    Natural varianti31 – 311G → D in MODY3; no effect on interaction with PCBD1 and DNA. 1 Publication
    VAR_010538
    Natural varianti48 – 481E → K in IDDM20. 1 Publication
    VAR_010539
    Natural varianti98 – 981A → V.3 Publications
    Corresponds to variant rs1800574 [ dbSNP | Ensembl ].
    VAR_010540
    Natural varianti107 – 1071L → R in MODY3. 1 Publication
    VAR_010541
    Natural varianti117 – 1171K → E in MODY3. 1 Publication
    VAR_010542
    Natural varianti122 – 1221Y → C in MODY3. 1 Publication
    VAR_003756
    Natural varianti127 – 1271N → Y in a hepatocellular carcinoma sample; somatic mutation. 1 Publication
    VAR_033088
    Natural varianti128 – 1281I → N in MODY3. 1 Publication
    VAR_010543
    Natural varianti129 – 1291P → T in MODY3. 1 Publication
    VAR_010544
    Natural varianti131 – 1311R → Q in MODY3; expected to interfere with DNA binding. 2 Publications
    VAR_010545
    Natural varianti131 – 1311R → W in MODY3; expected to interfere with DNA binding. 2 Publications
    VAR_010546
    Natural varianti133 – 1331V → M in MODY3.
    VAR_010547
    Natural varianti142 – 1421S → F in MODY3; reduces transcription activation by about 80%. 1 Publication
    VAR_003757
    Natural varianti143 – 1431H → Y in MODY3; expected to interfere with DNA binding. 2 Publications
    VAR_010548
    Natural varianti158 – 1581K → N in MODY3; expected to interfere with DNA binding. 1 Publication
    VAR_010549
    Natural varianti159 – 1591R → Q in MODY3. 2 Publications
    VAR_003758
    Natural varianti159 – 1591R → W in MODY3. 2 Publications
    VAR_010550
    Natural varianti161 – 1611A → T in MODY3. 1 Publication
    VAR_010551
    Natural varianti165 – 1651W → C in a hepatocellular carcinoma sample; somatic mutation. 1 Publication
    VAR_033089
    Natural varianti191 – 1911G → D in late-onset NIDDM. 1 Publication
    VAR_010552
    Natural varianti200 – 2001R → W in MODY3; expected to interfere with nuclear localization. 1 Publication
    VAR_063069
    Natural varianti203 – 2031R → C in MODY3; expected to interfere with nuclear localization and DNA binding. 1 Publication
    VAR_010554
    Natural varianti203 – 2031R → H in MODY3; expected to interfere with nuclear localization and DNA binding. 1 Publication
    VAR_012484
    Natural varianti205 – 2051K → Q in MODY3; reduces transcription activation by about 50%. 1 Publication
    VAR_010555
    Natural varianti206 – 2061W → C in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. 1 Publication
    VAR_033090
    Natural varianti206 – 2061W → L in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. 1 Publication
    VAR_033091
    Natural varianti229 – 2291R → Q in MODY3. 1 Publication
    VAR_010556
    Natural varianti237 – 2371N → S in a hepatic multiple adenoma sample; somatic mutation. 1 Publication
    VAR_033092
    Natural varianti241 – 2411C → G in IDDM20 and MODY3. 2 Publications
    VAR_010557
    Natural varianti244 – 2441R → G in a hepatic adenoma sample; somatic mutation; expected to interfere with DNA binding. 1 Publication
    VAR_033093
    Natural varianti250 – 2501Q → P in a hepatocellular carcinoma sample; somatic mutation. 1 Publication
    VAR_033094
    Natural varianti254 – 2541L → M in late-onset NIDDM; low penetrance; unknown pathological significance. 1 Publication
    VAR_010558
    Natural varianti259 – 2591V → D in MODY3.
    VAR_010559
    Natural varianti260 – 2601T → M in MODY3. 1 Publication
    VAR_010560
    Natural varianti263 – 2631R → C in MODY3; expected to interfere with DNA binding. 1 Publication
    VAR_010561
    Natural varianti268 – 2681F → C in a hepatic adenoma sample; somatic mutation. 1 Publication
    VAR_033095
    Natural varianti271 – 2711R → W in MODY3. 1 Publication
    VAR_010562
    Natural varianti272 – 2721R → C in NIDDM. 1 Publication
    VAR_010563
    Natural varianti272 – 2721R → H in IDDM20 and MODY3. 3 Publications
    VAR_003759
    Natural varianti273 – 2731K → E in a hepatic adenoma sample; somatic mutation. 2 Publications
    VAR_033096
    Natural varianti319 – 3191G → S Strong association with NIDDM susceptibility; unique to the Canadian Oji-Cree population. 1 Publication
    VAR_010564
    Natural varianti415 – 4151G → R in IDDM20; loss of function. 1 Publication
    VAR_010565
    Natural varianti432 – 4321S → C in MODY3. 1 Publication
    VAR_012485
    Natural varianti447 – 4471P → L in MODY3. 2 Publications
    VAR_003760
    Natural varianti487 – 4871S → N.6 Publications
    Corresponds to variant rs2464196 [ dbSNP | Ensembl ].
    VAR_007906
    Natural varianti514 – 5141H → R.1 Publication
    VAR_010566
    Natural varianti519 – 5191P → L in MODY3. 1 Publication
    VAR_010567
    Natural varianti537 – 5371T → R in MODY3; incomplete penetrance. 1 Publication
    VAR_010568
    Natural varianti574 – 5741G → S in a black African with an atypical form of diabetes; also in an individual with hepatic adenoma and familial early-onset diabetes. 4 Publications
    Corresponds to variant rs1169305 [ dbSNP | Ensembl ].
    VAR_010569
    Natural varianti583 – 5831R → G in IDDM20. 1 Publication
    VAR_003761
    Natural varianti583 – 5831R → Q in late-onset NIDDM; also in an individual with hepatic hyperplasia and familial early-onset diabetes. 2 Publications
    VAR_010570
    Natural varianti594 – 5941S → I in MODY3.
    VAR_010571
    Natural varianti618 – 6181I → M in MODY3. 1 Publication
    VAR_012486
    Natural varianti619 – 6191E → K in MODY3. 1 Publication
    VAR_010572
    Natural varianti620 – 6201T → I in MODY3; incomplete penetrance. 2 Publications
    VAR_010573

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 117117Missing in isoform 6. 1 PublicationVSP_053324Add
    BLAST
    Alternative sequencei110 – 11910EDPWRVAKMV → VHPCRAGRAD in isoform 8. CuratedVSP_054300
    Alternative sequencei120 – 631512Missing in isoform 8. CuratedVSP_054301Add
    BLAST
    Alternative sequencei176 – 278103QFTHA…EEAFR → RRNASREGCPHHRHRGWAPT SSRRCVSTTGLPTGAKKKPS GTSWPWTRTAGPPQGQARDL RCPLTAPLACLHLPSPPVRS TVCAMDSLRPVRLQKYPQAA AVP in isoform 4. 1 PublicationVSP_047736Add
    BLAST
    Alternative sequencei239 – 2479AECIQRGVS → CALWTACDQ in isoform 5. 1 PublicationVSP_047737
    Alternative sequencei248 – 631384Missing in isoform 5. 1 PublicationVSP_047738Add
    BLAST
    Alternative sequencei279 – 631353Missing in isoform 4. 1 PublicationVSP_047739Add
    BLAST
    Alternative sequencei438 – 52083LASTQ…GLLPQ → KLVGMGGHLGGRLMGQPQNP GAGRATGTHSFIHTTCIYPV PTLDQSLCYISDTWVNQTDQ NLSNSSREAGTKHNTSILWY LRR in isoform 6. 1 PublicationVSP_053325Add
    BLAST
    Alternative sequencei438 – 49457LASTQ…MATMA → KLVGMGGHLGGRLMGQPQNP GAGRATGTHSFIHSFIQHVF IQCLLWTSHCATSVIPG in isoform C. CuratedVSP_002252Add
    BLAST
    Alternative sequencei495 – 601107Missing in isoform C. CuratedVSP_002253Add
    BLAST
    Alternative sequencei501 – 54242ALYSH…PTKQV → GEHPVPHTAGDDDRGWLSMD AGERGAWQALQSACVSGTSV FP in isoform B. CuratedVSP_002250Add
    BLAST
    Alternative sequencei521 – 631111Missing in isoform 6. 1 PublicationVSP_053326Add
    BLAST
    Alternative sequencei540 – 5401K → KQVRSRPAGPPLACDRAPHP HIPRAQEAALLP in isoform 7. 1 PublicationVSP_054302
    Alternative sequencei543 – 60159Missing in isoform B. CuratedVSP_002251Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M57732 mRNA. Translation: AAA88077.1.
    X71346 mRNA. Translation: CAB59201.1.
    U72618
    , U72612, U72613, U72614, U72615, U72616, U72617 Genomic DNA. Translation: AAC51137.1.
    HM116552 mRNA. Translation: ADM43489.1.
    HM116557 mRNA. Translation: ADM43494.1.
    HM116558 mRNA. Translation: ADM43495.1.
    HM449088 mRNA. Translation: ADK56177.1.
    HM449089 mRNA. Translation: ADK56178.1.
    EF641294 Genomic DNA. Translation: ABR09270.1.
    AC079602 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW98226.1.
    BC104908 mRNA. Translation: AAI04909.1.
    BC104910 mRNA. Translation: AAI04911.1.
    CCDSiCCDS9209.1. [P20823-1]
    PIRiA36749.
    RefSeqiNP_000536.5. NM_000545.5. [P20823-1]
    UniGeneiHs.654455.

    Genome annotation databases

    EnsembliENST00000538646; ENSP00000443964; ENSG00000135100. [P20823-4]
    ENST00000540108; ENSP00000445445; ENSG00000135100. [P20823-8]
    ENST00000541924; ENSP00000440361; ENSG00000135100. [P20823-5]
    ENST00000543427; ENSP00000439721; ENSG00000135100. [P20823-6]
    GeneIDi6927.
    KEGGihsa:6927.
    UCSCiuc001tze.2. human. [P20823-3]
    uc001tzf.3. human. [P20823-2]
    uc001tzg.3. human. [P20823-1]

    Polymorphism databases

    DMDMi51338763.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Hepatocyte nuclear factors entry

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M57732 mRNA. Translation: AAA88077.1 .
    X71346 mRNA. Translation: CAB59201.1 .
    U72618
    , U72612 , U72613 , U72614 , U72615 , U72616 , U72617 Genomic DNA. Translation: AAC51137.1 .
    HM116552 mRNA. Translation: ADM43489.1 .
    HM116557 mRNA. Translation: ADM43494.1 .
    HM116558 mRNA. Translation: ADM43495.1 .
    HM449088 mRNA. Translation: ADK56177.1 .
    HM449089 mRNA. Translation: ADK56178.1 .
    EF641294 Genomic DNA. Translation: ABR09270.1 .
    AC079602 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW98226.1 .
    BC104908 mRNA. Translation: AAI04909.1 .
    BC104910 mRNA. Translation: AAI04911.1 .
    CCDSi CCDS9209.1. [P20823-1 ]
    PIRi A36749.
    RefSeqi NP_000536.5. NM_000545.5. [P20823-1 ]
    UniGenei Hs.654455.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1IC8 X-ray 2.60 A/B 85-278 [» ]
    2GYP X-ray 1.40 A/B 2-32 [» ]
    ProteinModelPortali P20823.
    SMRi P20823. Positions 2-31, 85-286.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112789. 37 interactions.
    DIPi DIP-33544N.
    IntActi P20823. 9 interactions.
    STRINGi 9606.ENSP00000257555.

    PTM databases

    PhosphoSitei P20823.

    Polymorphism databases

    DMDMi 51338763.

    Proteomic databases

    MaxQBi P20823.
    PaxDbi P20823.
    PRIDEi P20823.

    Protocols and materials databases

    DNASUi 6927.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000538646 ; ENSP00000443964 ; ENSG00000135100 . [P20823-4 ]
    ENST00000540108 ; ENSP00000445445 ; ENSG00000135100 . [P20823-8 ]
    ENST00000541924 ; ENSP00000440361 ; ENSG00000135100 . [P20823-5 ]
    ENST00000543427 ; ENSP00000439721 ; ENSG00000135100 . [P20823-6 ]
    GeneIDi 6927.
    KEGGi hsa:6927.
    UCSCi uc001tze.2. human. [P20823-3 ]
    uc001tzf.3. human. [P20823-2 ]
    uc001tzg.3. human. [P20823-1 ]

    Organism-specific databases

    CTDi 6927.
    GeneCardsi GC12P121416.
    H-InvDB HIX0036847.
    HGNCi HGNC:11621. HNF1A.
    HPAi CAB010430.
    HPA035231.
    MIMi 142330. phenotype.
    142410. gene.
    600496. phenotype.
    606391. phenotype.
    612520. phenotype.
    neXtProti NX_P20823.
    Orphaneti 324575. Hyperinsulinism due to HNF1A deficiency.
    552. MODY syndrome.
    PharmGKBi PA36380.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG79356.
    HOGENOMi HOG000015305.
    HOVERGENi HBG005980.
    InParanoidi P20823.
    KOi K08036.
    OMAi SHVAQSP.
    OrthoDBi EOG769ZJ9.
    PhylomeDBi P20823.
    TreeFami TF320327.

    Enzyme and pathway databases

    Reactomei REACT_13819. Regulation of gene expression in beta cells.
    SignaLinki P20823.

    Miscellaneous databases

    EvolutionaryTracei P20823.
    GeneWikii HNF1A.
    GenomeRNAii 6927.
    NextBioi 27105.
    PROi P20823.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P20823.
    Bgeei P20823.
    CleanExi HS_HNF1A.
    Genevestigatori P20823.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    1.10.260.40. 1 hit.
    InterProi IPR006899. HNF-1_N.
    IPR023219. HNF1_dimer_dom.
    IPR006898. HNF1a_C.
    IPR006897. HNF1b_C.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    [Graphical view ]
    Pfami PF04814. HNF-1_N. 1 hit.
    PF04813. HNF-1A_C. 1 hit.
    PF04812. HNF-1B_C. 1 hit.
    PF00046. Homeobox. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF100957. SSF100957. 1 hit.
    SSF46689. SSF46689. 1 hit.
    SSF47413. SSF47413. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse."
      Bach I., Galcheva-Gargova Z., Mattei M.-G., Simon-Chazottes D., Guenet J.-L., Cereghini S., Yaniv M.
      Genomics 8:155-164(1990) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
      Tissue: Liver.
    2. "More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing."
      Bach I., Yaniv M.
      EMBO J. 12:4229-4242(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), ALTERNATIVE SPLICING.
      Tissue: Liver.
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MODY3 LEU-447.
    4. "Homo sapiens HNF1 alpha B mRNA splicing variants."
      Yang C.-W., Tsai D.-Y.
      Submitted (APR-2010) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6).
    5. "New isoforms in HNF1A."
      Gonzalez Ruano E., Gonzalez Sarmiento R.
      Submitted (JUN-2010) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7), VARIANT SER-574.
    6. SeattleSNPs variation discovery resource
      Submitted (MAY-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-27; VAL-98; ASN-487 AND SER-574.
    7. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-27.
      Tissue: Liver.
    10. "Diabetes mutations delineate an atypical POU domain in HNF-1alpha."
      Chi Y.I., Frantz J.D., Oh B.C., Hansen L., Dhe-Paganon S., Shoelson S.E.
      Mol. Cell 10:1129-1137(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 85-278 IN COMPLEX WITH DNA, FUNCTION, DNA-BINDING, MUTAGENESIS OF ASN-127; GLU-132; PHE-177; ILE-186; THR-190; ASN-202; VAL-246 AND ASN-257, CHARACTERIZATION OF VARIANTS MODY3 PHE-142 AND GLN-205.
    11. "Diabetes mellitus due to misfolding of a beta-cell transcription factor: stereospecific frustration of a Schellman motif in HNF-1alpha."
      Narayana N., Phillips N.B., Hua Q.X., Jia W., Weiss M.A.
      J. Mol. Biol. 362:414-429(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.4 ANGSTROMS) OF 2-32, CIRCULAR DICHROISM.
    12. Cited for: VARIANTS MODY3 ARG-107; TRP-131; MET-260 AND HIS-272.
    13. "Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM."
      Iwasaki N., Oda N., Ogata M., Hara M., Hinokio Y., Oda Y., Yamagata K., Kanematsu S., Ohgawara H., Omori Y., Bell G.I.
      Diabetes 46:1504-1508(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 HIS-12; GLN-131; GLN-205 AND CYS-263, VARIANT NIDDM ASP-191.
    14. "Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects."
      Yamada S., Nishigori H., Onda H., Takahashi K., Kitano N., Morikawa A., Takeuchi T., Takeda J.
      Diabetes 46:1512-1513(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NIDDM MET-254, VARIANTS LEU-27 AND ASN-487.
    15. "Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM."
      Yamada S., Nishigori H., Onda H., Utsugi T., Yanagawa T., Maruyama T., Onigata K., Nagashima K., Nagai R., Morikawa A., Takeuchi T., Takeda J.
      Diabetes 46:1643-1647(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS IDDM20 HIS-272 AND GLY-583.
    16. "An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young)."
      Boutin P., Chevre J.-C., Hani E.H., Gomis R., Pardini V.C., Guillausseau P.-J., Vaxillaire M., Velho G., Froguel P.
      Diabetes 46:2108-2109(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3, VARIANT ATYPICAL DIABETES SER-574.
    17. "Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4."
      Kaisaki P.J., Menzel S., Lindner T., Oda N., Rjasanowski I., Sahm J., Meincke G., Schulze J., Schmechel H., Petzold C., Ledermann H.M., Sachse G., Boriraj V.V., Menzel R., Kerner W., Turner R.C., Yamagata K., Bell G.I.
      Diabetes 46:528-535(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 GLN-131; GLN-229; GLY-241 AND HIS-272.
    18. "Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K."
      Frayling T.M., Bulman M.P., Ellard S., Appleton M., Dronsfield M.J., Mackie A.D., Baird J.D., Kaisaki P.J., Yamagata K., Bell G.I., Bain S.C., Hattersley A.T.
      Diabetes 46:720-725(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 THR-129; TRP-131; TRP-159; LEU-519 AND ILE-620.
    19. "Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation."
      Hansen T., Eiberg H., Rouard M., Vaxillaire M., Moeller A.M., Rasmussen S.K., Fridberg M., Urhammer S.A., Holst J.J., Almind K., Echwald S.M., Hansen L., Bell G.I., Pedersen O.
      Diabetes 46:726-730(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 ASN-128; TYR-143 AND LEU-447.
    20. "A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge."
      Urhammer S.A., Fridberg M., Hansen T., Rasmussen S.K., Moeller A.M., Clausen J.O., Pedersen O.
      Diabetes 46:912-916(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-27; VAL-98 AND ASN-487.
    21. "Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM."
      Urhammer S.A., Rasmussen S.K., Kaisaki P.J., Oda N., Yamagata K., Moeller A.M., Fridberg M., Hansen L., Hansen T., Bell G.I., Pedersen O.
      Diabetologia 40:473-475(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NIDDM GLN-583, VARIANTS LEU-27; VAL-98 AND ASN-487.
    22. "Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)."
      Vaxillaire M., Rouard M., Yamagata K., Oda N., Kaisaki P.J., Boriraj V.V., Chevre J.-C., Boccio V., Cox R.D., Lathrop G.M., Dussoix P., Philippe J., Timsit J., Charpentier G., Velho G., Bell G.I., Froguel P.
      Hum. Mol. Genet. 6:583-586(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 CYS-122; PHE-142 AND GLN-159.
    23. "Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews."
      Behn P.S., Wasson J., Chayen S., Smolovitch I., Thomas J.D., Glaser B., Permutt M.A.
      Diabetes 47:967-969(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-27; ASN-487 AND ARG-514.
    24. Cited for: VARIANTS MODY3 ASP-31; TRP-159; THR-161; TRP-200 AND TRP-271.
    25. "Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having type I diabetes."
      Moeller A.M., Dalgaard L.T., Pociot F., Nerup J., Hansen T., Pedersen O.
      Diabetologia 41:1528-1531(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS IDDM20 LYS-48 AND GLY-241.
    26. "Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10."
      Elbein S.C., Teng K., Yount P., Scroggin E.
      J. Clin. Endocrinol. Metab. 83:2059-2065(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 ARG-537 AND LYS-619.
    27. "Mutations in the hepatocyte nuclear factor-1 alpha gene 'MODY3' are not a major cause of early-onset non-insulin-dependent 'type 2' diabetes mellitus in Japanese."
      Nishigori H., Yamada S., Kohama T., Utsugi T., Shimizu H., Takeuchi T., Takeda J.
      J. Hum. Genet. 43:107-110(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-27 AND ASN-487.
    28. "Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins."
      Yamada S., Tomura H., Nishigori H., Sho K., Mabe H., Iwatani N., Takumi T., Kito Y., Moriya N., Muroya K., Ogata T., Onigata K., Morikawa A., Inoue I., Takeda J.
      Diabetes 48:645-648(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 HIS-12; ASN-158; GLN-159 AND CYS-203.
    29. "Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young."
      Ellard S., Bulman M.P., Frayling T.M., Allen L.I.S., Dronsfield M.J., Tack C.J., Hattersley A.T.
      Diabetes 48:921-923(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 GLU-117 AND TYR-143.
    30. "Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization."
      Yoshiuchi I., Yamagata K., Yang Q., Iwahashi H., Okita K., Yamamoto K., Oue T., Imagawa A., Hamaguchi T., Yamasaki T., Horikawa Y., Satoh T., Nakajima H., Miyazaki J., Higashiyama S., Miyagawa J., Namba M., Hanafusa T., Matsuzawa Y.
      Diabetologia 42:621-626(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NIDDM CYS-272, VARIANT IDDM20 ARG-415.
    31. "Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY."
      Ng M.C.Y., Cockburn B.N., Lindner T.H., Yeung V.T.F., Chow C.-C., So W.-Y., Li J.K.Y., Lo Y.M.D., Lee Z.S.K., Cockram C.S., Critchley J.A.J.H., Bell G.I., Chan J.C.N.
      Diabet. Med. 16:956-963(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MODY3 ARG-20; HIS-203; CYS-432 AND MET-618.
    32. "Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing."
      Miedzybrodzka Z., Hattersley A.T., Ellard S., Pearson D., de Silva D., Harvey R., Haites N.
      Eur. J. Hum. Genet. 7:729-732(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MODY3 ILE-620.
    33. "The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree."
      Hegele R.A., Cao H., Harris S.B., Hanley A.J.G., Zinman B.
      J. Clin. Endocrinol. Metab. 84:1077-1082(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-319.
    34. "Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha."
      Rose R.B., Bayle J.H., Endrizzi J.A., Cronk J.D., Crabtree G.R., Alber T.
      Nat. Struct. Biol. 7:744-748(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS MODY3 HIS-12; ARG-20 AND ASP-31, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PCBD1.
    35. Cited for: INVOLVEMENT IN HEPATIC ADENOMAS, VARIANTS TYR-127; CYS-165; CYS-206; LEU-206; SER-237; GLY-244; PRO-250; CYS-268; GLU-273; SER-574 AND GLN-583.
    36. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-273.

    Entry informationi

    Entry nameiHNF1A_HUMAN
    AccessioniPrimary (citable) accession number: P20823
    Secondary accession number(s): A5Z2R8
    , E0YMJ5, E0YMK0, E0YMK1, E2I9R4, E2I9R5, F5H5U3, Q2M3H2, Q99861
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1991
    Last sequence update: August 16, 2004
    Last modified: October 1, 2014
    This is version 183 of the entry and version 2 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

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3