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HNF1A Gene

protein-coding   GIFtS: 61
GCID: GC12P121416

HNF1 Homeobox A

(Previous names: transcription factor 1, hepatic; LF-B1, hepatic nuclear...)
(Previous symbols: MODY3, TCF1)
  See HNF1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
HNF1 Homeobox A1 2     Transcription Factor 1, Hepatic; LF-B1, Hepatic Nuclear Factor (HNF1),
Albumin Proximal Factor1
TCF11 2 3 5     HNF12
MODY31 2 5     Albumin Proximal Factor2
Liver-Specific Transcription Factor LF-B12 3     Hepatic Nuclear Factor 12
HNF-1-alpha2 3     Hepatocyte Nuclear Factor 1-Alpha2
HNF-1A2 3     Interferon Production Regulator Factor2
LFB12 3     Transcription Factor 1, Hepatic2
TCF-12 3     Transcription Factor 13
IDDM202 5     

External Ids:    HGNC: 116211   Entrez Gene: 69272   Ensembl: ENSG000001351007   OMIM: 1424105   UniProtKB: P208233   

Export aliases for HNF1A gene to outside databases

Previous GC identifers: GC12P119900 GC12P118425


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HNF1A Gene:
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific
genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.
Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in
the appearance of hepatic adenomas. (provided by RefSeq, Mar 2009)

GeneCards Summary for HNF1A Gene:
HNF1A (HNF1 homeobox A) is a protein-coding gene. Diseases associated with HNF1A include maturity-onset diabetes of the young, type 3, and hepatic adenoma, somatic. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HNF1B.

UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823
Function: 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'

Gene Wiki entry for HNF1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HNF1A gene promoter:
         Sp1   p53   NF-kappaB   HNF-1A   C/EBPalpha   YY1   HNF-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHNF1A promoter sequence
   Search Chromatin IP Primers for HNF1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HNF1A


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

Entrez Gene cytogenetic band: 12q24.2   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

HNF1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HNF1A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P121416:  view genomic region     (about GC identifiers)

Start:
121,416,346 bp from pter      End:
121,440,315 bp from pter
Size:
23,970 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823 (See protein sequence)
Recommended Name: Hepatocyte nuclear factor 1-alpha  
Size: 631 amino acids; 67356 Da
Subunit: Binds DNA as a dimer. Interacts with PCBD1. Heterotetramer with PCBD1; formed by a dimer of dimers
2 PDB 3D structures from and Proteopedia for HNF1A:
1IC8 (3D)        2GYP (3D)    
Secondary accessions: A5Z2R8 E0YMJ5 E0YMK0 E0YMK1 Q2M3H2 Q99861
Alternative splicing: 6 isoforms:  P20823-1   P20823-2   P20823-3   P20823-4   P20823-5   P20823-6   

Explore the universe of human proteins at neXtProt for HNF1A: NX_P20823

Explore proteomics data for HNF1A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HNF1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000536.5  
    ENSEMBL proteins: 
     ENSP00000257555   ENSP00000476181   ENSP00000453965   ENSP00000475300   ENSP00000440361  
     ENSP00000443964   ENSP00000438565   ENSP00000475403   ENSP00000476210   ENSP00000443112  
     ENSP00000445445   ENSP00000438804   ENSP00000439721  
    Reactome Protein details: P20823

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    HNF: Homeoboxes / HNF class

    Selected InterPro protein domains (see all 7):
     IPR010982 Lambda_DNA-bd_dom
     IPR006898 HNF1a_C
     IPR006899 HNF-1_N
     IPR006897 HNF1b_C
     IPR023219 HNF1_dimer_dom

    Graphical View of Domain Structure for InterPro Entry P20823

    ProtoNet protein and cluster: P20823

    1 Blocks protein domain: IPB006899 Hepatocyte nuclear factor 1

    UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823
    Similarity: Belongs to the HNF1 homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with HNF1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HNF1A_HUMAN, P20823
    Function: 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'

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS--
    GO:0003677DNA binding IDA10333057
    GO:0003690double-stranded DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IDA11980910
    GO:0005515protein binding IPI11980910
         
    Find genes that share ontologies with HNF1A           About GenesLikeMe


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hnf1a):
     adipose tissue  behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  integument  liver/biliary system  mortality/aging 
     muscle  no phenotypic analysis  renal/urinary system  reproductive system  skeleton 

    Find genes that share phenotypes with HNF1A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for HNF1A: Hnf1atm1.1Ylee Hnf1atm2Ylee

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HNF1A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HNF1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HNF1A

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for HNF1A (see all 607):
    ABCC13,  ABCG2,  ACOT9,  ACTL7A,  ACTL7B,  ACTL8,  ACTR6,  ADAMTS18,  ADCY6,  ADO

    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GGTTAAACATTAAC 

    miRNA
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    miRTarBase miRNAs that target HNF1A:
    hsa-mir-320a (MIRT044838)

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    7 qRT-PCR Assays for microRNAs that regulate HNF1A:
    hsa-miR-34b* hsa-miR-548t hsa-miR-1266 hsa-miR-548n hsa-miR-1205 hsa-miR-3670 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidHNF1A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HNF1A

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    Addgene plasmids for HNF1A 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HNF1A_HUMAN, P20823: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ----
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex ----
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA12530534

    Find genes that share ontologies with HNF1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HNF1A About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Regulation of beta-cell development0.64
    Maturity onset diabetes of the young0.61
    Regulation of gene expression in beta cells0.64
    2L1CAM interactions
    Developmental Biology0.63
    3Type II diabetes mellitus
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    4Selected targets of HNF1
    Selected targets of HNF1
    5Presenilin action in Notch and Wnt signaling
    Presenilin action in Notch and Wnt signaling


    Find genes that share SuperPaths with HNF1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HNF1A (see all 8)
        MAPK Signaling
    ILK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    MODY (Maturity-Onset Diabetes of Young)
    Human Embryonic Stem Cell Pluripotency

    1 Cell Signaling Technology (CST) Pathway for HNF1A
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for HNF1A
        Dichloroethylene metabolism

    4 BioSystems Pathways for HNF1A
        Adipogenesis
    IL-6 Signaling Pathway
    FOXA2 and FOXA3 transcription factor networks
    Presenilin action in Notch and Wnt signaling

    1 Reactome Pathway for HNF1A
        Regulation of gene expression in beta cells

    1 PharmGKB Pathway for HNF1A
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for HNF1A):
        Maturity onset diabetes of the young

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HNF1A: 
              Mesenchymal Stem Cell in human mouse rat
              Transcription Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HNF1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HNF1A (P208231, 3 ENSP000002575554) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM3P621583, ENSP000002912954I2D: score=2 STRING: ENSP00000291295
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    DYRK1BQ9Y4631, 3, ENSP000003127894EBI-636034,EBI-634187 I2D: score=2 STRING: ENSP00000312789
    CREBBPQ927933, ENSP000002623674I2D: score=3 STRING: ENSP00000262367
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0001824blastocyst development ----
    GO:0001889liver development ----
    GO:0001890placenta development ----
    GO:0006338chromatin remodeling ----

    Find genes that share ontologies with HNF1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for HNF1A

    1 DrugBank Compound for HNF1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Norleucine-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for HNF1A gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pcbd 76.3 3 11668623 (2)
    tetrahydrobiopterin 55.4 5 10098606 (2), 7744010 (1), 11395380 (1), 8995521 (1)
    nnmt 54.6 5 15486044 (1), 16676400 (1)
    androstane 48.1 3 15858847 (1), 19480556 (1), 19228886 (1)
    c-peptide 44.9 6 16602010 (1), 15569134 (1), 16834925 (1), 17426693 (1) (see all 6)
    glucose 44.3 30 9806892 (2), 16602010 (1), 20031592 (1), 10331424 (1) (see all 22)
    oltipraz 42.3 1 15155840 (1)
    phenylalanine 41.6 7 8001680 (1), 9465044 (1), 11573942 (1), 10704830 (1)
    tbhq 39.9 3 15155840 (1), 14998373 (1)
    phosphoenolpyruvate 33.4 3 15468681 (1), 9276474 (1), 15311963 (1)



    Find genes that share compounds with HNF1A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HNF1A gene: 
    NM_000545.5  

    Unigene Cluster for HNF1A:

    HNF1 homeobox A
    Hs.654455  [show with all ESTs]
    Unigene Representative Sequence: HM449088
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257555(uc001tzg.3) ENST00000400024(uc001tzf.3) ENST00000560968
    ENST00000402929(uc001tze.2) ENST00000541924 ENST00000538646 ENST00000544574(uc021rex.1)
    ENST00000535955(uc021rey.1) ENST00000538626(uc021rez.1) ENST00000541395(uc010szn.2 uc021rfa.1 uc021rfc.1)
    ENST00000540108(uc021rfb.1) ENST00000544413 ENST00000543255 ENST00000543427

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    Addgene plasmids for HNF1A 
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      QuantiTect SYBR Green Assays in human, mouse, rat HNF1A
      QuantiFast Probe-based Assays in human, mouse, rat HNF1A

    Additional mRNA sequence: 

    AK298422.1 BC104908.1 BC104910.1 BC143483.1 HM116541.1 HM116542.1 HM116543.1 HM116544.1 
    HM116545.1 HM116546.1 HM116547.1 HM116548.1 HM116549.1 HM116550.1 HM116551.1 HM116552.1 
    HM116557.1 HM116558.1 HM116559.1 HM116560.1 HM116561.1 HM116562.1 HM116563.1 HM449088.1 
    HM449089.1 M57732.1 

    1 DOTS entry:

    DT.454865 

    17 AceView cDNA sequences:

    NM_000545 BM854591 CR595845 M57732 BX390180 BQ643620 X71346 BM741129 
    X71347 BE348240 AL524668 AW294801 BQ018723 AA887705 BQ652046 BX117205 
    AL562376 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    HNF1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HNF1A Expression
    About this image


    HNF1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Duct Cells Pancreatic Ducts
             Beta-like cells
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Gut Tube (Gastrointestinal Tract)
             Foregut Endoderm Cells Foregut
     
     NULL (Uncategorized)
             Endoderm progenitor-like cells
     
     Eye (Sensory Organs)
             Retina
    HNF1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HNF1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654455

    UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823
    Tissue specificity: Liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HNF1A: 
              Mesenchymal Stem Cell in human mouse rat
              Transcription Factors in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HNF1A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hnf1a1 , 5 HNF1 homeobox A1, 5 88.54(n)1
    95.22(a)1
      5 (55.99 cM)5
    214051  NM_009327.31  NP_033353.21 
     1149489815 
    chicken
    (Gallus gallus)
    Aves HNF1A1 HNF1 homeobox A 75.2(n)
    79.52(a)
      416967  NM_001030668.2  NP_001025839.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia tcf1-A2 transcription factor 1, transcription factor LFB1 /HNF1 77.46(n)    X64759.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hnf1a1 HNF1 homeobox a 59.45(n)
    57.25(a)
      266961  NM_170764.1  NP_739570.1 


    ENSEMBL Gene Tree for HNF1A (if available)
    TreeFam Gene Tree for HNF1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HNF1A gene
    HNF1B2  
    4 SIMAP similar genes for HNF1A using alignment to 20 protein entries:     HNF1A_HUMAN (see all proteins):
    HNF1alpha    HNF1B    TCF2    HMBOX1

    Find genes that share paralogs with HNF1A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    HNF1A_HUMAN, P20823: The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and
    insulin responses


    Selected SNPs for HNF1A (see all 793)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0037594
    Maturity-onset diabetes of the young 3 (MODY3)4--see VAR_0037592 R H mis40--------
    VAR_0105724
    Maturity-onset diabetes of the young 3 (MODY3)4--see VAR_0105722 E K mis40--------
    VAR_0124844
    Maturity-onset diabetes of the young 3 (MODY3)4--see VAR_0124842 R H mis40--------
    VAR_0037614
    Diabetes mellitus, insulin-dependent, 20 (IDDM20)4--see VAR_0037612 R G mis40--------
    VAR_0330944
    A hepatocellular carcinoma sample4--see VAR_0330942 Q P mis40--------
    VAR_0105554
    Maturity-onset diabetes of the young 3 (MODY3)4--see VAR_0105552 K Q mis40--------
    VAR_0105444
    Maturity-onset diabetes of the young 3 (MODY3)4--see VAR_0105442 P T mis40--------
    VAR_0105434
    Maturity-onset diabetes of the young 3 (MODY3)4--see VAR_0105432 I N mis40--------
    VAR_0105414
    Maturity-onset diabetes of the young 3 (MODY3)4--see VAR_0105412 L R mis40--------
    VAR_0105734
    Maturity-onset diabetes of the young 3 (MODY3)4--see VAR_0105732 T I mis40--------

    HapMap Linkage Disequilibrium report for HNF1A (121416346 - 121440315 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for HNF1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746481CNV Deletion23290073
    esv2746482CNV Deletion23290073
    esv2746480CNV Deletion23290073
    esv2657723CNV Deletion23128226
    nsv521928CNV Gain19592680
    dgv1496n71CNV Gain21882294
    nsv899559CNV Gain21882294
    dgv529e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): HNF1A
    Locus Specific Mutation Databases (LSDB): HNF1A

    Selected Site Specific Mutation Identification with PCR Assays for HNF1A (see all 8):
    Cosmic IdAA Change
    21474p.N237S
    21485p.Q250P
    21484p.W165C
    21471p.W206L
    21477p.K273E
    3 Site Specific Cancer Mutation PCR Panels containing HNF1A:
    Cancer Comprehensive Panel 384HT
    Tumor Suppressor Panel 384HT
    Liver Cancer
    SeqTarget long-range PCR primers for resequencing HNF1A
    DNA2.0 Custom Variant and Variant Library Synthesis for HNF1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 142410   
    OMIM disorders: 600496  125853  222100  142330  144700  612520  
    UniProtKB/Swiss-Prot: HNF1A_HUMAN, P20823
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this
    entry

  • 16 diseases for HNF1A:    
    About MalaCards
    maturity-onset diabetes of the young, type 3    hepatic adenoma, somatic    hyperinsulinism due to hnf1a deficiency    hepatocellular adenoma
    diabetes mellitus, noninsulin-dependent, 2    diabetes mellitus, insulin-dependent, 20    kidney cancer    hereditary persistence of alpha-fetoprotein
    monogenic diabetes    maturity-onset diabetes of the young    aminoaciduria    type 1 diabetes mellitus
    struma ovarii    maturity-onset diabetes of the young, type 1    type 2 diabetes mellitus    colorectal cancer

    4 diseases from the University of Copenhagen DISEASES database for HNF1A:
    maturity-onset diabetes of the young     Diabetes mellitus     Hyperglycemia     Adenoma

    Find genes that share disorders with HNF1A           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HNF1A gene (see all 50)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    niddm 82.9 110 9133559 (3), 9840451 (2), 16186275 (2), 15001636 (2) (see all 82)
    mody6 82.8 2 15387959 (1), 16409568 (1)
    adenoma hepatocellular 68.3 13 17363580 (2), 20041408 (1), 17379603 (1), 17569132 (1) (see all 8)
    adenoma liver 63.7 5 12355088 (1), 17535860 (1), 12730871 (1)
    hyperglycemia 55.1 4 16444761 (1), 12453975 (1), 9539292 (1), 19794065 (1)
    diabetes mellitus 48 13 9864503 (2), 11668618 (1), 12488960 (1), 12911009 (1) (see all 9)
    insulinoma 47 8 1720308 (2), 18949455 (2), 8945471 (1), 10944108 (1) (see all 5)
    glycogen storage disease 41.1 1 11121425 (1)
    hepatoblastoma 38.1 5 8912143 (3), 7557430 (1), 16799619 (1)
    aminoaciduria 35.6 2 11522670 (1), 15270800 (1)

    Genetic Association Database (GAD): HNF1A
    Human Genome Epidemiology (HuGE) Navigator: HNF1A (107 documents)

    Export disorders for HNF1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HNF1A gene, integrated from 10 sources (see all 678):
    (articles sorted by number of sources associating them with HNF1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study. (PubMed id 20031592)1, 4, 9 Reiner A.P....Nickerson D.A. (Circ Cardiovasc Genet 2009)
    2. Bi-allelic inactivation of TCF1 in hepatic adenomas. (PubMed id 12355088)1, 2, 9 Bluteau O....Zucman-Rossi J. (Nat. Genet. 2002)
    3. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). (PubMed id 18513305)1, 4, 9 Eide S.A....Molven A. (Diabet. Med. 2008)
    4. Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF). (PubMed id 1535333)1, 3, 9 Szpirer C....Szpirer J. (Genomics 1992)
    5. Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse. (PubMed id 1707031)1, 2, 9 Bach I.... Yaniv M. (Genomics 1990)
    6. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. (PubMed id 18003757)1, 4, 9 BellannAc-Chantelot C....Timsit J. (Diabetes 2008)
    7. Identification of mutations in the hepatocyte nuclear factor (HNF)-1- alpha gene in Japanese subjects with IDDM. (PubMed id 9313763)1, 2, 9 Yamada S....Takeda J. (Diabetes 1997)
    8. More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. (PubMed id 7900999)1, 2, 9 Bach I. and Yaniv M. (EMBO J. 1993)
    9. Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young. (PubMed id 19336507)1, 4, 9 Radha V....Mohan V. (J. Clin. Endocrinol. Metab. 2009)
    10. [The genetic and clinical characteristics of transcription factor 1 gene mutations in Chinese diabetes]. (PubMed id 17407072)1, 4, 9 Yang Z....Xiang K.S. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6927 HGNC: 11621 AceView: TCF1 Ensembl:ENSG00000135100 euGenes: HUgn6927
    ECgene: HNF1A Kegg: 6927 H-InvDB: HNF1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HNF1A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HNF1A[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors
    SeattleSNPshttp://pga.gs.washington.edu/data/tcf1/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HNF1A gene:
    Search GeneIP for patents involving HNF1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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