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    HNF1A HNF1 homeobox A [ Homo sapiens (human) ]

    Gene ID: 6927, updated on 8-Aug-2016
    Official Symbol
    HNF1Aprovided by HGNC
    Official Full Name
    HNF1 homeobox Aprovided by HGNC
    Primary source
    HGNC:HGNC:11621
    See related
    Ensembl:ENSG00000135100 HPRD:00800; MIM:142410; Vega:OTTHUMG00000151015
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HNF1; LFB1; TCF1; MODY3; TCF-1; HNF-1A; IDDM20
    Summary
    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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
    Orthologs
    Location:
    12q24.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (120978515..121002512)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121415861..121440315)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 33 Neighboring gene HNF1A antisense RNA 1 Neighboring gene chromosome 12 open reading frame 43 Neighboring gene 2'-5'-oligoadenylate synthetase like Neighboring gene uncharacterized LOC105378258

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Diabetes mellitus type 1
    MedGen: C0011854 OMIM: 222100 GeneReviews: Not available
    Compare labs
    Diabetes mellitus type 2
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs
    Diabetes mellitus, insulin-dependent, 20
    MedGen: C2675866 OMIM: 612520 GeneReviews: Not available
    Compare labs
    Hepatic adenomas, familial
    MedGen: C1840646 OMIM: 142330 GeneReviews: Not available
    Compare labs
    Maturity-onset diabetes of the young, type 3
    MedGen: C1838100 OMIM: 600496 GeneReviews: Not available
    Compare labs
    Renal cell carcinoma, nonpapillary
    MedGen: C3160732 OMIM: 144700 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genetic associations with C-reactive protein level and white blood cell count in the KARE study.
    NHGRI GWA Catalog
    Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
    NHGRI GWA Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    NHGRI GWA Catalog
    Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
    NHGRI GWA Catalog
    Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.
    NHGRI GWA Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.
    NHGRI GWA Catalog
    Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog
    Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.
    NHGRI GWA Catalog
    Joint influence of small-effect genetic variants on human longevity.
    NHGRI GWA Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    NHGRI GWA Catalog
    Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
    NHGRI GWA Catalog
    Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    NHGRI GWA Catalog
    New susceptibility locus for coronary artery disease on chromosome 3q22.3.
    NHGRI GWA Catalog
    New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.
    NHGRI GWA Catalog
    Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
    NHGRI GWA Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    NHGRI GWA Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    NHGRI GWA Catalog
    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • IL-6 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-6 Signaling Pathway, organism-specific biosystemInterleukin-6 belongs to a family of cytokines which includes IL-11, ciliary neurotrophic factor (CNTF), cardiotropin-1, cardiotrophin-like cytokine, leukemia inhibitory factor (LIF) and Oncostatin M...
    • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
      Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
      Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
      Presenilin action in Notch and Wnt signaling, organism-specific biosystem
      Presenilin action in Notch and Wnt signaling
    • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
      Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
    • Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
    • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
      Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    hepatocyte nuclear factor 1-alpha
    Names
    HNF-1-alpha
    albumin proximal factor
    hepatic nuclear factor 1
    interferon production regulator factor
    liver-specific transcription factor LF-B1
    transcription factor 1, hepatic

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011731.2 RefSeqGene

      Range
      4823..28767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_522

    mRNA and Protein(s)

    1. NM_000545.6NP_000536.5  hepatocyte nuclear factor 1-alpha isoform 2

      See identical proteins and their annotated locations for NP_000536.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC079602, BC104908, HM116541, HM449088, M57732, X71346
      Consensus CDS
      CCDS9209.1
      UniProtKB/Swiss-Prot
      P20823
      UniProtKB/TrEMBL
      E0YMI7
      Related
      ENSP00000257555, OTTHUMP00000198944, ENST00000257555, OTTHUMT00000320957
      Conserved Domains (4) summary
      cd00086
      Location:200273
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:282540
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04813
      Location:542630
      HNF-1A_C; Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus
      pfam04814
      Location:8167
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    2. NM_001306179.1NP_001293108.1  hepatocyte nuclear factor 1-alpha isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC079602, BC143483, HM116541, HM449088, X71346
      Consensus CDS
      CCDS76611.1
      UniProtKB/Swiss-Prot
      P20823
      UniProtKB/TrEMBL
      E0YMI7
      Related
      ENSP00000438804, OTTHUMP00000240206, ENST00000544413, OTTHUMT00000402514
      Conserved Domains (4) summary
      cd00086
      Location:200273
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:282540
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04813
      Location:549637
      HNF-1A_C; Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus
      pfam04814
      Location:8167
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      120978515..121002512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253931.3XP_005253988.1  

      UniProtKB/TrEMBL
      A0A0A0MTK8
      Related
      ENSP00000443112, OTTHUMP00000240204, ENST00000541395, OTTHUMT00000402512
      Conserved Domains (4) summary
      pfam04813
      Location:573661
      HNF-1A_C; Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus
      cd00086
      Location:200273
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam04812
      Location:282541
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:1176
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      121385205..121409144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)