Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P35680

- HNF1B_HUMAN

UniProt

P35680 - HNF1B_HUMAN

Protein

Hepatocyte nuclear factor 1-beta

Gene

HNF1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 166 (01 Oct 2014)
      Sequence version 1 (01 Jun 1994)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi231 – 31181Homeobox; HNF1-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. protein homodimerization activity Source: UniProtKB
    4. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
    5. sequence-specific DNA binding Source: InterPro
    6. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    7. transcription regulatory region DNA binding Source: Ensembl

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. branching morphogenesis of an epithelial tube Source: Ensembl
    3. embryonic digestive tract morphogenesis Source: Ensembl
    4. endocrine pancreas development Source: UniProtKB
    5. endodermal cell fate specification Source: Ensembl
    6. epithelial cell proliferation Source: Ensembl
    7. genitalia development Source: UniProtKB
    8. hepatoblast differentiation Source: Ensembl
    9. hindbrain development Source: Ensembl
    10. inner cell mass cell differentiation Source: Ensembl
    11. insulin secretion Source: Ensembl
    12. kidney development Source: UniProtKB
    13. mesonephric duct formation Source: Ensembl
    14. negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis Source: Ensembl
    15. negative regulation of mesenchymal cell apoptotic process involved in metanephros development Source: Ensembl
    16. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    17. positive regulation of transcription, DNA-templated Source: UniProtKB
    18. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    19. positive regulation of transcription initiation from RNA polymerase II promoter Source: UniProtKB
    20. pronephric nephron tubule development Source: UniProtKB
    21. pronephros development Source: UniProtKB
    22. regulation of branch elongation involved in ureteric bud branching Source: Ensembl
    23. regulation of endodermal cell fate specification Source: Ensembl
    24. regulation of pronephros size Source: UniProtKB
    25. regulation of Wnt signaling pathway Source: Ensembl
    26. response to glucose Source: Ensembl
    27. ureteric bud elongation Source: Ensembl

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_13673. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
    REACT_13778. Regulation of gene expression in early pancreatic precursor cells.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hepatocyte nuclear factor 1-beta
    Short name:
    HNF-1-beta
    Short name:
    HNF-1B
    Alternative name(s):
    Homeoprotein LFB3
    Transcription factor 2
    Short name:
    TCF-2
    Variant hepatic nuclear factor 1
    Short name:
    vHNF1
    Gene namesi
    Name:HNF1B
    Synonyms:TCF2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:11630. HNF1B.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Renal cysts and diabetes syndrome (RCAD) [MIM:137920]: An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361S → F in RCAD; gain-of-function mutation. 1 Publication
    VAR_046012
    Natural varianti61 – 611V → G in RCAD. 1 Publication
    VAR_046013
    Natural varianti76 – 761G → C in RCAD. 1 Publication
    Corresponds to variant rs144425830 [ dbSNP | Ensembl ].
    VAR_046014
    Natural varianti110 – 1101V → G in RCAD. 1 Publication
    VAR_046015
    Natural varianti112 – 1121R → P in RCAD. 2 Publications
    VAR_046016
    Natural varianti136 – 1361Q → E in RCAD. 2 Publications
    VAR_046017
    Natural varianti148 – 1481S → L in RCAD. 1 Publication
    VAR_046018
    Natural varianti148 – 1481S → W in RCAD. 1 Publication
    VAR_046019
    Natural varianti151 – 1511S → P in RCAD. 1 Publication
    VAR_046020
    Natural varianti153 – 1531H → N in RCAD. 1 Publication
    VAR_046021
    Natural varianti156 – 1561K → E in RCAD; has diminished transcriptional activity by loss of DNA binding activity. 1 Publication
    VAR_046022
    Natural varianti164 – 1641K → Q in RCAD. 2 Publications
    VAR_046023
    Natural varianti165 – 1651R → H in RCAD. 2 Publications
    VAR_046024
    Natural varianti235 – 2351R → Q in RCAD. 1 Publication
    VAR_046025
    Natural varianti241 – 2411A → T in RCAD. 1 Publication
    VAR_046026
    Natural varianti260 – 2601E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. 1 Publication
    VAR_046027
    Natural varianti276 – 2761R → G in RCAD. 1 Publication
    VAR_046028
    Natural varianti276 – 2761R → Q in RCAD. 1 Publication
    VAR_046029
    Natural varianti285 – 2851G → D in RCAD. 1 Publication
    VAR_046030
    Natural varianti295 – 2951R → C in RCAD. 1 Publication
    VAR_046031
    Natural varianti295 – 2951R → H in RCAD. 2 Publications
    VAR_046032
    Natural varianti295 – 2951R → P in RCAD. 1 Publication
    VAR_046033
    Natural varianti370 – 3701G → S in RCAD. 1 Publication
    Corresponds to variant rs113042313 [ dbSNP | Ensembl ].
    VAR_046034
    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.1 Publication
    Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti465 – 4651S → R in NIDDM; 22% reduction in activity. 1 Publication
    VAR_017665
    Prostate cancer, hereditary, 11 (HPC11) [MIM:611955]: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Keywords - Diseasei

    Diabetes mellitus

    Organism-specific databases

    MIMi125853. phenotype.
    137920. phenotype.
    611955. phenotype.
    Orphaneti261265. 17q12 microdeletion syndrome.
    34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
    247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
    1331. Familial prostate cancer.
    2578. MURCS association.
    93111. Renal cysts and diabetes syndrome.
    PharmGKBiPA162391083.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 557557Hepatocyte nuclear factor 1-betaPRO_0000049121Add
    BLAST

    Proteomic databases

    MaxQBiP35680.
    PaxDbiP35680.
    PRIDEiP35680.

    PTM databases

    PhosphoSiteiP35680.

    Expressioni

    Gene expression databases

    ArrayExpressiP35680.
    BgeeiP35680.
    CleanExiHS_HNF1B.
    GenevestigatoriP35680.

    Organism-specific databases

    HPAiHPA002083.

    Interactioni

    Subunit structurei

    Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha.1 Publication

    Protein-protein interaction databases

    BioGridi112790. 5 interactions.
    IntActiP35680. 1 interaction.
    STRINGi9606.ENSP00000225893.

    Structurei

    Secondary structure

    1
    557
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi91 – 988
    Helixi101 – 11313
    Helixi118 – 13215
    Helixi136 – 1438
    Helixi147 – 1548
    Helixi162 – 18120
    Turni182 – 1854
    Helixi240 – 25213
    Helixi258 – 27518
    Helixi283 – 2864
    Helixi293 – 30412
    Beta strandi316 – 3216

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DA6NMR-A233-321[»]
    2H8RX-ray3.20A/B91-310[»]
    ProteinModelPortaliP35680.
    SMRiP35680. Positions 91-325.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP35680.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 3131DimerizationBy similarityAdd
    BLAST

    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.
    InParanoidiP35680.
    KOiK08034.
    OMAiMYTHKQE.
    OrthoDBiEOG769ZJ9.
    PhylomeDBiP35680.
    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.
    IPR006897. HNF1b_C.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    [Graphical view]
    PfamiPF04814. HNF-1_N. 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 (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: P35680-1) [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

    MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP    50
    GSGAEPDTKP VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT 100
    EEAAEQRAEV DRMLSEDPWR AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL 150
    SQHLNKGTPM KTQKRAALYT WYVRKQREIL RQFNQTVQSS GNMTDKSSQD 200
    QLLFLFPEFS QQSHGPGQSD DACSEPTNKK MRRNRFKWGP ASQQILYQAY 250
    DRQKNPSKEE REALVEECNR AECLQRGVSP SKAHGLGSNL VTEVRVYNWF 300
    ANRRKEEAFR QKLAMDAYSS NQTHSLNPLL SHGSPHHQPS SSPPNKLSGV 350
    RYSQQGNNEI TSSSTISHHG NSAMVTSQSV LQQVSPASLD PGHNLLSPDG 400
    KMISVSGGGL PPVSTLTNIH SLSHHNPQQS QNLIMTPLSG VMAIAQSLNT 450
    SQAQSVPVIN SVAGSLAALQ PVQFSQQLHS PHQQPLMQQS PGSHMAQQPF 500
    MAAVTQLQNS HMYAHKQEPP QYSHTSRFPS AMVVTDTSSI STLTNMSSSK 550
    QCPLQAW 557
    Length:557
    Mass (Da):61,324
    Last modified:June 1, 1994 - v1
    Checksum:i9E1ECC7423B73980
    GO
    Isoform B (identifier: P35680-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         183-208: Missing.

    Show »
    Length:531
    Mass (Da):58,379
    Checksum:iCEC69B827DD176D3
    GO
    Isoform C (identifier: P35680-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         350-400: VRYSQQGNNE...PGHNLLSPDG → KQRLGLTASA...SHCQNILPWK
         401-557: Missing.

    Show »
    Length:399
    Mass (Da):44,764
    Checksum:iCA374B25AB5A2A48
    GO
    Isoform 4 (identifier: P35680-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         96-125: Missing.
         183-208: Missing.
         447-483: SLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQ → MSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ
         484-557: Missing.

    Show »
    Length:427
    Mass (Da):46,907
    Checksum:iDE3646E9A2B068E7
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361S → F in RCAD; gain-of-function mutation. 1 Publication
    VAR_046012
    Natural varianti61 – 611V → G in RCAD. 1 Publication
    VAR_046013
    Natural varianti76 – 761G → C in RCAD. 1 Publication
    Corresponds to variant rs144425830 [ dbSNP | Ensembl ].
    VAR_046014
    Natural varianti110 – 1101V → G in RCAD. 1 Publication
    VAR_046015
    Natural varianti112 – 1121R → P in RCAD. 2 Publications
    VAR_046016
    Natural varianti136 – 1361Q → E in RCAD. 2 Publications
    VAR_046017
    Natural varianti148 – 1481S → L in RCAD. 1 Publication
    VAR_046018
    Natural varianti148 – 1481S → W in RCAD. 1 Publication
    VAR_046019
    Natural varianti151 – 1511S → P in RCAD. 1 Publication
    VAR_046020
    Natural varianti153 – 1531H → N in RCAD. 1 Publication
    VAR_046021
    Natural varianti156 – 1561K → E in RCAD; has diminished transcriptional activity by loss of DNA binding activity. 1 Publication
    VAR_046022
    Natural varianti164 – 1641K → Q in RCAD. 2 Publications
    VAR_046023
    Natural varianti165 – 1651R → H in RCAD. 2 Publications
    VAR_046024
    Natural varianti235 – 2351R → Q in RCAD. 1 Publication
    VAR_046025
    Natural varianti241 – 2411A → T in RCAD. 1 Publication
    VAR_046026
    Natural varianti260 – 2601E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. 1 Publication
    VAR_046027
    Natural varianti276 – 2761R → G in RCAD. 1 Publication
    VAR_046028
    Natural varianti276 – 2761R → Q in RCAD. 1 Publication
    VAR_046029
    Natural varianti285 – 2851G → D in RCAD. 1 Publication
    VAR_046030
    Natural varianti295 – 2951R → C in RCAD. 1 Publication
    VAR_046031
    Natural varianti295 – 2951R → H in RCAD. 2 Publications
    VAR_046032
    Natural varianti295 – 2951R → P in RCAD. 1 Publication
    VAR_046033
    Natural varianti370 – 3701G → S in RCAD. 1 Publication
    Corresponds to variant rs113042313 [ dbSNP | Ensembl ].
    VAR_046034
    Natural varianti465 – 4651S → R in NIDDM; 22% reduction in activity. 1 Publication
    VAR_017665
    Natural varianti492 – 4921G → S in diabetes; early onset association; unknown pathological significance. 1 Publication
    Corresponds to variant rs1805035 [ dbSNP | Ensembl ].
    VAR_012058

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei96 – 12530Missing in isoform 4. 1 PublicationVSP_053327Add
    BLAST
    Alternative sequencei183 – 20826Missing in isoform B and isoform 4. 3 PublicationsVSP_002254Add
    BLAST
    Alternative sequencei350 – 40051VRYSQ…LSPDG → KQRLGLTASATQPSWFLPRI LSGLRVFRGANAFEMILGPL SHCQNILPWK in isoform C. 1 PublicationVSP_002255Add
    BLAST
    Alternative sequencei401 – 557157Missing in isoform C. 1 PublicationVSP_002256Add
    BLAST
    Alternative sequencei447 – 48337SLNTS…HSPHQ → MSSTSLVMPTHHLLRAQQQG PCFPHHHPLGSCHGKAQ in isoform 4. 1 PublicationVSP_053328Add
    BLAST
    Alternative sequencei484 – 55774Missing in isoform 4. 1 PublicationVSP_053329Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X58840 mRNA. Translation: CAA41652.1.
    X71348 mRNA. Translation: CAB59223.1.
    U90287
    , U90279, U90280, U90281, U90282, U90283, U90284, U90285, U90286 Genomic DNA. Translation: AAC63388.1.
    HM116556 mRNA. Translation: ADM43493.1.
    AK296633 mRNA. Translation: BAG59235.1.
    AC091199 Genomic DNA. No translation available.
    AC113211 Genomic DNA. No translation available.
    BC017714 mRNA. Translation: AAH17714.1.
    CCDSiCCDS11324.1. [P35680-1]
    CCDS58538.1. [P35680-2]
    PIRiS34412.
    RefSeqiNP_000449.1. NM_000458.2. [P35680-1]
    NP_001159395.1. NM_001165923.2. [P35680-2]
    UniGeneiHs.191144.

    Genome annotation databases

    GeneIDi6928.
    KEGGihsa:6928.
    UCSCiuc002hok.4. human. [P35680-1]
    uc010cve.1. human. [P35680-3]

    Polymorphism databases

    DMDMi547664.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Hepatocyte nuclear factors entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X58840 mRNA. Translation: CAA41652.1 .
    X71348 mRNA. Translation: CAB59223.1 .
    U90287
    , U90279 , U90280 , U90281 , U90282 , U90283 , U90284 , U90285 , U90286 Genomic DNA. Translation: AAC63388.1 .
    HM116556 mRNA. Translation: ADM43493.1 .
    AK296633 mRNA. Translation: BAG59235.1 .
    AC091199 Genomic DNA. No translation available.
    AC113211 Genomic DNA. No translation available.
    BC017714 mRNA. Translation: AAH17714.1 .
    CCDSi CCDS11324.1. [P35680-1 ]
    CCDS58538.1. [P35680-2 ]
    PIRi S34412.
    RefSeqi NP_000449.1. NM_000458.2. [P35680-1 ]
    NP_001159395.1. NM_001165923.2. [P35680-2 ]
    UniGenei Hs.191144.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DA6 NMR - A 233-321 [» ]
    2H8R X-ray 3.20 A/B 91-310 [» ]
    ProteinModelPortali P35680.
    SMRi P35680. Positions 91-325.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112790. 5 interactions.
    IntActi P35680. 1 interaction.
    STRINGi 9606.ENSP00000225893.

    PTM databases

    PhosphoSitei P35680.

    Polymorphism databases

    DMDMi 547664.

    Proteomic databases

    MaxQBi P35680.
    PaxDbi P35680.
    PRIDEi P35680.

    Protocols and materials databases

    DNASUi 6928.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 6928.
    KEGGi hsa:6928.
    UCSCi uc002hok.4. human. [P35680-1 ]
    uc010cve.1. human. [P35680-3 ]

    Organism-specific databases

    CTDi 6928.
    GeneCardsi GC17M036046.
    HGNCi HGNC:11630. HNF1B.
    HPAi HPA002083.
    MIMi 125853. phenotype.
    137920. phenotype.
    189907. gene.
    611955. phenotype.
    neXtProti NX_P35680.
    Orphaneti 261265. 17q12 microdeletion syndrome.
    34528. Autosomal dominant primary hypomagnesemia with hypocalciuria.
    247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
    1331. Familial prostate cancer.
    2578. MURCS association.
    93111. Renal cysts and diabetes syndrome.
    PharmGKBi PA162391083.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG79356.
    HOGENOMi HOG000015305.
    HOVERGENi HBG005980.
    InParanoidi P35680.
    KOi K08034.
    OMAi MYTHKQE.
    OrthoDBi EOG769ZJ9.
    PhylomeDBi P35680.
    TreeFami TF320327.

    Enzyme and pathway databases

    Reactomei REACT_13673. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.
    REACT_13778. Regulation of gene expression in early pancreatic precursor cells.

    Miscellaneous databases

    EvolutionaryTracei P35680.
    GeneWikii HNF1B.
    GenomeRNAii 6928.
    NextBioi 27109.
    PROi P35680.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P35680.
    Bgeei P35680.
    CleanExi HS_HNF1B.
    Genevestigatori P35680.

    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.
    IPR006897. HNF1b_C.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR010982. Lambda_DNA-bd_dom.
    [Graphical view ]
    Pfami PF04814. HNF-1_N. 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. "Two members of an HNF1 homeoprotein family are expressed in human liver."
      Bach I., Mattei M.-G., Cereghini S., Yaniv M.
      Nucleic Acids Res. 19:3553-3559(1991) [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] (ISOFORMS A; B AND C).
      Tissue: Liver.
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Homo sapiens HNF1 beta A mRNA splicing variant 4."
      Yang C.-W., Tsai D.-Y.
      Submitted (APR-2010) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
      Tissue: Colon.
    6. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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].
      Tissue: Liver.
    8. "A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta."
      Lindner T.H., Njoelstad P.R., Horikawa Y., Bostad L., Bell G.I., Soevik O.
      Hum. Mol. Genet. 8:2001-2008(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RCAD.
    9. "Solution structure of the homeobox domain of hepatocyte nuclear factor 1-beta (HNF-1beta)."
      RIKEN structural genomics initiative (RSGI)
      Submitted (DEC-2006) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 233-321.
    10. "Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta."
      Lu P., Rha G.B., Chi Y.I.
      Biochemistry 46:12071-12080(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.2 ANGSTROMS) OF 91-310 IN COMPLEX WITH DNA.
    11. "Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both."
      Weng J.P., Lehto M., Forsblom C., Huang X., Li H., Groop L.C.
      Diabetologia 43:131-132(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RCAD THR-241, VARIANT DIABETES SER-492.
    12. "Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY."
      Yoshiuchi I., Yamagata K., Zhu Q., Tamada I., Takahashi Y., Onigata K., Takeda J., Miyagawa J., Matsuzawa Y.
      Diabetologia 45:154-155(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RCAD PHE-36, CHARACTERIZATION OF VARIANT RCAD PHE-36.
    13. "Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations."
      Bingham C., Ellard S., Cole T.R.P., Jones K.E., Allen L.I.S., Goodship J.A., Goodship T.H.J., Bakalinova-Pugh D., Russell G.I., Woolf A.S., Nicholls A.J., Hattersley A.T.
      Kidney Int. 61:1243-1251(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RCAD PRO-151.
    14. "Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese."
      Furuta H., Furuta M., Sanke T., Ekawa K., Hanabusa T., Nishi M., Sasaki H., Nanjo K.
      J. Clin. Endocrinol. Metab. 87:3859-3863(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NIDDM ARG-465.
    15. "Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy."
      So W.Y., Ng M.C.Y., Horikawa Y., Njoelstad P.R., Li J.K.Y., Ma R.C.W., Bell G.I., Chan J.C.N.
      J. Diabetes Complications 17:369-373(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RCAD ASP-260, CHARACTERIZATION OF VARIANT RCAD ASP-260.
    16. Cited for: VARIANTS RCAD PRO-112; GLU-136; GLN-164; HIS-165 AND HIS-295.
    17. "Promoter-specific repression of hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha transcriptional activity by an HNF-1beta missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations."
      Kitanaka S., Miki Y., Hayashi Y., Igarashi T.
      J. Clin. Endocrinol. Metab. 89:1369-1378(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RCAD ASN-153, CHARACTERIZATION OF VARIANT RCAD ASN-153.
    18. "Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism."
      Yorifuji T., Kurokawa K., Mamada M., Imai T., Kawai M., Nishi Y., Shishido S., Hasegawa Y., Nakahata T.
      J. Clin. Endocrinol. Metab. 89:2905-2908(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RCAD TRP-148.
    19. "Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5."
      Bellanne-Chantelot C., Clauin S., Chauveau D., Collin P., Daumont M., Douillard C., Dubois-Laforgue D., Dusselier L., Gautier J.-F., Jadoul M., Laloi-Michelin M., Jacquesson L., Larger E., Louis J., Nicolino M., Subra J.-F., Wilhem J.-M., Young J., Velho G., Timsit J.
      Diabetes 54:3126-3132(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RCAD CYS-76; PRO-112; GLU-136; GLN-164; HIS-165; GLN-235; GLY-276; ASP-285; CYS-295; HIS-295 AND SER-370.
    20. "Mutations in hepatocyte nuclear factor-1beta and their related phenotypes."
      Edghill E.L., Bingham C., Ellard S., Hattersley A.T.
      J. Med. Genet. 43:84-90(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RCAD GLY-61; GLY-110; LEU-148; GLU-156; GLN-276 AND PRO-295.
    21. "Multiple newly identified loci associated with prostate cancer susceptibility."
      The UK genetic prostate cancer study collaborators, British association of urological surgeons section of oncology, The UK protecT study collaborators
      Eeles R.A., Kote-Jarai Z., Giles G.G., Al Olama A.A., Guy M., Jugurnauth S.K., Mulholland S., Leongamornlert D.A., Edwards S.M., Morrison J., Field H.I., Southey M.C., Severi G., Donovan J.L., Hamdy F.C., Dearnaley D.P., Muir K.R., Smith C.
      , Bagnato M., Ardern-Jones A.T., Hall A.L., O'Brien L.T., Gehr-Swain B.N., Wilkinson R.A., Cox A., Lewis S., Brown P.M., Jhavar S.G., Tymrakiewicz M., Lophatananon A., Bryant S.L., Horwich A., Huddart R.A., Khoo V.S., Parker C.C., Woodhouse C.J., Thompson A., Christmas T., Ogden C., Fisher C., Jamieson C., Cooper C.S., English D.R., Hopper J.L., Neal D.E., Easton D.F.
      Nat. Genet. 40:316-321(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO HEREDITARY PROSTATE CANCER.

    Entry informationi

    Entry nameiHNF1B_HUMAN
    AccessioniPrimary (citable) accession number: P35680
    Secondary accession number(s): B4DKM3, E0YMJ9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: June 1, 1994
    Last modified: October 1, 2014
    This is version 166 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

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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