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Aliases for HNF1A Gene

Aliases for HNF1A Gene

  • HNF1 Homeobox A 2 3
  • Liver-Specific Transcription Factor LF-B1 3 4
  • HNF-1-Alpha 3 4
  • HNF-1A 3 4
  • TCF-1 3 4
  • TCF1 3 4
  • LFB1 3 4
  • Transcription Factor 1, Hepatic; LF-B1, Hepatic Nuclear Factor (HNF1), Albumin Proximal Factor 2
  • Interferon Production Regulator Factor 3
  • Transcription Factor 1, Hepatic 3
  • Hepatic Nuclear Factor 1 3
  • Albumin Proximal Factor 3
  • Transcription Factor 1 4
  • IDDM20 3
  • MODY3 3
  • HNF1 3

External Ids for HNF1A Gene

Previous HGNC Symbols for HNF1A Gene

  • MODY3
  • TCF1

Previous GeneCards Identifiers for HNF1A Gene

  • GC12P119900
  • GC12P121416
  • GC12P118425

Summaries for HNF1A Gene

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

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 and hyperinsulinism due to hnf1a deficiency. Among its related pathways are Developmental Biology and Regulation of beta-cell development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding.

UniProtKB/Swiss-Prot for HNF1A Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNF1A Gene

Genomics for HNF1A Gene

Regulatory Elements for HNF1A Gene

Genomic Location for HNF1A Gene

Chromosome:
12
Start:
120,977,787 bp from pter
End:
121,002,512 bp from pter
Size:
24,726 bases
Orientation:
Plus strand

Genomic View for HNF1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HNF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNF1A Gene

Proteins for HNF1A Gene

  • Protein details for HNF1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20823-HNF1A_HUMAN
    Recommended name:
    Hepatocyte nuclear factor 1-alpha
    Protein Accession:
    P20823
    Secondary Accessions:
    • A5Z2R8
    • E0YMJ5
    • E0YMK0
    • E0YMK1
    • E2I9R4
    • E2I9R5
    • F5H5U3
    • Q2M3H2
    • Q99861

    Protein attributes for HNF1A Gene

    Size:
    631 amino acids
    Molecular mass:
    67356 Da
    Quaternary structure:
    • Binds DNA as a dimer. Interacts with PCBD1. Heterotetramer with PCBD1; formed by a dimer of dimers.

    Three dimensional structures from OCA and Proteopedia for HNF1A Gene

    Alternative splice isoforms for HNF1A Gene

neXtProt entry for HNF1A Gene

Proteomics data for HNF1A Gene at MOPED

Post-translational modifications for HNF1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HNF1A Gene

Domains & Families for HNF1A Gene

Gene Families for HNF1A Gene

Graphical View of Domain Structure for InterPro Entry

P20823

UniProtKB/Swiss-Prot:

HNF1A_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the HNF1 homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the HNF1 homeobox family.
genes like me logo Genes that share domains with HNF1A: view

Function for HNF1A Gene

Molecular function for HNF1A Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for HNF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding ISS --
GO:0001221 transcription cofactor binding --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding --
GO:0003677 DNA binding IDA 1677179
genes like me logo Genes that share ontologies with HNF1A: view
genes like me logo Genes that share phenotypes with HNF1A: view

Animal Models for HNF1A Gene

MGI Knock Outs for HNF1A:

Animal Model Products

miRNA for HNF1A Gene

miRTarBase miRNAs that target HNF1A

Transcription Factor Targets for HNF1A Gene

Selected GeneGlobe predicted Target genes for HNF1A
Targeted motifs for HNF1A Gene
HOMER Transcription Factor Regulatory Elements motif HNF1A
  • Consensus sequence: GGTTAAACATTAAC Submotif: canonical Cell Type: Liver GEO ID: GSE25694

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HNF1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) for HNF1A Gene

Localization for HNF1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNF1A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HNF1A Gene COMPARTMENTS Subcellular localization image for HNF1A gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HNF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment --
GO:0005634 nucleus IDA 12530534
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex --
GO:0005737 cytoplasm IDA 12530534
genes like me logo Genes that share ontologies with HNF1A: view

Pathways & Interactions for HNF1A Gene

genes like me logo Genes that share pathways with HNF1A: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for HNF1A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HNF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter --
GO:0001824 blastocyst development --
GO:0001889 liver development --
GO:0001890 placenta development --
GO:0006338 chromatin remodeling --
genes like me logo Genes that share ontologies with HNF1A: view

Drugs & Compounds for HNF1A Gene

(19) Drugs for HNF1A Gene - From: NovoSeek and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloramphenicol Approved Pharma 6
Dexamethasone Approved, Investigational Pharma Agonist 1806
Indomethacin Approved, Investigational Pharma Inhibition, Inhibitor Cox inhibitor 97
Tetrahydrobiopterin Approved, Investigational Pharma 0
Tolbutamide Approved Pharma Inhibitor CAMP inhibitor 21

(20) Additional Compounds for HNF1A Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
androstane
cadmium
  • Cadmium atom
  • Cadmium elemental
  • Cadmium metallicum
  • Cd
  • Colloidal cadmium
7440-43-9
Ceramide
3102-57-6
C-Peptide
Creatinine
  • 1-Methylglycocyamidine
  • 1-Methylhydantoin-2-imide
  • 2-Amino-1-methyl-1,5-dihydroimidazol-4-one
  • 2-Amino-1-methylimidazolin-4-one
  • Creatine anhydride
60-27-5
genes like me logo Genes that share compounds with HNF1A: view

Transcripts for HNF1A Gene

mRNA/cDNA for HNF1A Gene

Unigene Clusters for HNF1A Gene

HNF1 homeobox A:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HNF1A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HNF1A Gene

No ASD Table

Relevant External Links for HNF1A Gene

GeneLoc Exon Structure for
HNF1A
ECgene alternative splicing isoforms for
HNF1A

Expression for HNF1A Gene

mRNA expression in normal human tissues for HNF1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HNF1A Gene

This gene is overexpressed in Liver (x16.0), Kidney - Cortex (x11.2), Pancreas (x7.5), Colon - Transverse (x6.9), and Small Intestine - Terminal Ileum (x5.7).

Protein differential expression in normal tissues from HIPED for HNF1A Gene

This gene is overexpressed in Liver (60.4) and Prostate (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HNF1A Gene



SOURCE GeneReport for Unigene cluster for HNF1A Gene Hs.654455

mRNA Expression by UniProt/SwissProt for HNF1A Gene

P20823-HNF1A_HUMAN
Tissue specificity: Liver
genes like me logo Genes that share expression patterns with HNF1A: view

Protein tissue co-expression partners for HNF1A Gene

Primer Products

In Situ Assay Products

Orthologs for HNF1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for HNF1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HNF1A 35
  • 92.23 (n)
  • 95.72 (a)
HNF1A 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HNF1A 35
  • 92.08 (n)
  • 96.67 (a)
HNF1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hnf1a 35
  • 88.54 (n)
  • 95.22 (a)
Hnf1a 16
Hnf1a 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HNF1A 35
  • 100 (n)
  • 100 (a)
HNF1A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hnf1a 35
  • 88.91 (n)
  • 94.9 (a)
oppossum
(Monodelphis domestica)
Mammalia HNF1A 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HNF1A 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves HNF1A 35
  • 75.2 (n)
  • 79.52 (a)
HNF1A 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hnf1a 35
  • 68.38 (n)
  • 70.26 (a)
African clawed frog
(Xenopus laevis)
Amphibia tcf1-A 35
zebrafish
(Danio rerio)
Actinopterygii hnf1a 35
  • 59.45 (n)
  • 57.25 (a)
hnf1a 36
  • 53 (a)
ManyToMany
hnf1bb 36
  • 54 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for HNF1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HNF1A Gene

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

Paralogs for HNF1A Gene

genes like me logo Genes that share paralogs with HNF1A: view

No data available for Paralogs for HNF1A Gene

Variants for HNF1A Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HNF1A Gene

P20823-HNF1A_HUMAN
The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses

Sequence variations from dbSNP and Humsavar for HNF1A Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs735396 -- 121,001,041(-) CTGCT(A/G)GCCAC intron-variant
rs1169282 -- 120,982,627(-) GCCAT(A/G)CCATT intron-variant
rs1169283 -- 120,982,466(-) TCCCC(C/G)CCCCC intron-variant
rs1169284 -- 120,982,123(-) catgc(A/G)ctcca intron-variant
rs1169285 -- 120,981,737(-) aaagt(A/G)aacaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HNF1A Gene

Variant ID Type Subtype PubMed ID
nsv521928 CNV Gain 19592680
nsv899559 CNV Gain 21882294
dgv1496n71 CNV Gain 21882294
dgv529e1 CNV Complex 17122850
esv2746480 CNV Deletion 23290073
esv2657723 CNV Deletion 23128226
esv2746481 CNV Deletion 23290073
esv2746482 CNV Deletion 23290073

Variation tolerance for HNF1A Gene

Residual Variation Intolerance Score: 53.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.29; 97.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HNF1A Gene

HapMap Linkage Disequilibrium report
HNF1A
Human Gene Mutation Database (HGMD)
HNF1A

PCR Panel Products

Disorders for HNF1A Gene

MalaCards: The human disease database

(22) MalaCards diseases for HNF1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
maturity-onset diabetes of the young
  • mason-type diabetes
hyperinsulinism due to hnf1a deficiency
  • hyperinsulinemic hypoglycemia due to hnf1a deficiency
diabetes mellitus, insulin-dependent, 20
  • iddm20
mody, type iii
  • maturity-onset diabetes of the young, type 3
diabetes mellitus, insulin-dependent
  • diabetes, type 1
- elite association
Search HNF1A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HNF1A_HUMAN
  • 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. {ECO:0000269 PubMed:10333057, ECO:0000269 PubMed:9313763, ECO:0000269 PubMed:9867222}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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 development 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. {ECO:0000269 PubMed:10078571, ECO:0000269 PubMed:10102714, ECO:0000269 PubMed:10482964, ECO:0000269 PubMed:10588527, ECO:0000269 PubMed:8945470, ECO:0000269 PubMed:9032114, ECO:0000269 PubMed:9075818, ECO:0000269 PubMed:9075819, ECO:0000269 PubMed:9097962, ECO:0000269 PubMed:9166684, ECO:0000269 PubMed:9287053, ECO:0000269 PubMed:9392505, ECO:0000269 PubMed:9626139, ECO:0000269 PubMed:9754819}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HNF1A

Genetic Association Database (GAD)
HNF1A
Human Genome Epidemiology (HuGE) Navigator
HNF1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HNF1A
genes like me logo Genes that share disorders with HNF1A: view

No data available for Genatlas for HNF1A Gene

Publications for HNF1A Gene

  1. 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). (PMID: 1535333) Szpirer C. … Szpirer J. (Genomics 1992) 2 23 67
  2. Strong induction of PCSK9 gene expression through HNF1alpha and SREBP2: mechanism for the resistance to LDL-cholesterol lowering effect of statins in dyslipidemic hamsters. (PMID: 20048381) Dong B. … Liu J. (J. Lipid Res. 2010) 23 67
  3. PSMD9 is linked to MODY3. (PMID: 20069546) Gragnoli C. (J. Cell. Physiol. 2010) 23 67
  4. Three novel mutations in MODY and its phenotype in three different Czech families. (PMID: 20132997) BazalovA! Z. … Andel M. (Diabetes Res. Clin. Pract. 2010) 23 67
  5. Early loss of mammalian target of rapamycin complex 1 (mTORC1) signalling and reduction in cell size during dominant-negative suppression of hepatic nuclear factor 1-alpha (HNF1A) function in INS-1 insulinoma cells. (PMID: 18949455) Farrelly A.M. … Byrne M.M. (Diabetologia 2009) 23 67

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