Format

Send to:

Choose Destination
    • Showing Current items.

    HNF1A HNF1 homeobox A [ Homo sapiens (human) ]

    Gene ID: 6927, updated on 11-Jul-2021

    Summary

    Official Symbol
    HNF1Aprovided by HGNC
    Official Full Name
    HNF1 homeobox Aprovided by HGNC
    Primary source
    HGNC:HGNC:11621
    See related
    Ensembl:ENSG00000135100 MIM:142410
    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; HNF4A; MODY3; TCF-1; HNF-1A; IDDM20; HNF1alpha
    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]
    Expression
    Biased expression in kidney (RPKM 13.4), duodenum (RPKM 9.8) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HNF1A in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (120977683..121002512)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121416346..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 2'-5' oligoadenylate synthetase like 2, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
    GeneReviews: Not available
    Biological, clinical and population relevance of 95 loci for blood lipids.
    GeneReviews: Not available
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    GeneReviews: Not available
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    GeneReviews: Not available
    Diabetes mellitus type 1
    MedGen: C0011854 OMIM: 222100 GeneReviews: Not available
    Compare labs
    Diabetes mellitus, insulin-dependent, 20
    MedGen: C2675866 OMIM: 612520 GeneReviews: Not available
    Compare labs
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Genetic associations with C-reactive protein level and white blood cell count in the KARE study.
    GeneReviews: Not available
    Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
    GeneReviews: Not available
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    GeneReviews: Not available
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    GeneReviews: Not available
    Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
    GeneReviews: Not available
    Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.
    GeneReviews: Not available
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    GeneReviews: Not available
    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.
    GeneReviews: Not available
    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.
    GeneReviews: Not available
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    GeneReviews: Not available
    Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.
    GeneReviews: Not available
    Hepatic adenomas, familial
    MedGen: C1840646 OMIM: 142330 GeneReviews: Not available
    Compare labs
    Joint influence of small-effect genetic variants on human longevity.
    GeneReviews: Not available
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    GeneReviews: Not available
    Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
    GeneReviews: Not available
    Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
    GeneReviews: Not available
    Maturity-onset diabetes of the young, type 3 Compare labs
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    GeneReviews: Not available
    New susceptibility locus for coronary artery disease on chromosome 3q22.3.
    GeneReviews: Not available
    New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.
    GeneReviews: Not available
    Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
    GeneReviews: Not available
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    GeneReviews: Not available
    Renal cell carcinoma, nonpapillary
    MedGen: CN074294 OMIM: 144700 GeneReviews: Not available
    Compare labs
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    GeneReviews: Not available
    Type 2 diabetes mellitus
    MedGen: C0011860 OMIM: 125853 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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
    truncated hepatocyte nuclear factor 1 alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000545.8NP_000536.6  hepatocyte nuclear factor 1-alpha isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC079602
      Consensus CDS
      CCDS9209.1
      Related
      ENSP00000257555.5, ENST00000257555.11
      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:8168
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
    2. NM_001306179.2NP_001293108.2  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
      Consensus CDS
      CCDS76611.1
      Related
      ENSP00000438804.1, ENST00000544413.2
      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:8168
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      120977683..121002512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449168.1XP_024304936.1  hepatocyte nuclear factor 1-alpha isoform X1

      Related
      ENSP00000443112.1, ENST00000541395.5
      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.
      pfam04813
      Location:573661
      HNF-1A_C; Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus
      pfam04812
      Location:282540
      HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
      pfam04814
      Location:8167
      HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
    Support Center