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Aliases for HNF1A Gene

Aliases for HNF1A Gene

  • HNF1 Homeobox A 2 3
  • TCF1 3 4 6
  • Liver-Specific Transcription Factor LF-B1 3 4
  • HNF-1-Alpha 3 4
  • IDDM20 3 6
  • HNF-1A 3 4
  • MODY3 3 6
  • TCF-1 3 4
  • LFB1 3 4
  • Transcription Factor 1, Hepatic; LF-B1, Hepatic Nuclear Factor (HNF1), Albumin Proximal Factor 2
  • Interferon Production Regulator Factor 3
  • Hepatocyte Nuclear Factor 1-Alpha 3
  • Transcription Factor 1, Hepatic 3
  • Hepatic Nuclear Factor 1 3
  • Albumin Proximal Factor 3
  • Transcription Factor 1 4
  • HNF1 3

External Ids for HNF1A Gene

Previous Symbols for HNF1A Gene

  • MODY3
  • TCF1

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. [provided by RefSeq, Mar 2009]

GeneCards Summary for HNF1A Gene

HNF1A (HNF1 Homeobox A) is a Protein Coding gene. Diseases associated with HNF1A include diabetes mellitus, insulin-dependent and diabetes mellitus, insulin-dependent, 20. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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

Genomic Location for HNF1A Gene

Start:
120,978,058 bp from pter
End:
121,002,512 bp from pter
Size:
24,455 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

Regulatory Elements 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 for HNF1A Gene

Gene Families for HNF1A Gene

HGNC:
  • HNF :Homeoboxes / HNF class

Graphical View of Domain Structure for InterPro Entry

P20823

UniProtKB/Swiss-Prot:

HNF1A_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • P20823
Family:
  • Belongs to the HNF1 homeobox family.:
    • P20823
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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS --
GO:0001221 transcription cofactor binding --
GO:0003677 DNA binding IDA 10333057
GO:0003690 double-stranded DNA binding --
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:

miRNA for HNF1A Gene

miRTarBase miRNAs that target HNF1A

Transcription Factor Targeting for HNF1A Gene

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

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
extracellular 1
mitochondrion 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 for HNF1A Gene

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

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

Compounds for HNF1A Gene

(1) Drugbank Compounds for HNF1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Norleucine
target

(38) Novoseek inferred chemical compound relationships for HNF1A Gene

Compound -log(P) Hits PubMed IDs
pcbd 76.3 2
tetrahydrobiopterin 55.4 5
nnmt 54.6 2
androstane 48.1 3
c-peptide 44.9 6
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:

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 (16.0), Kidney - Cortex (11.2), Pancreas (7.5), Colon - Transverse (6.9), and Small Intestine - Terminal Ileum (5.7).

Integrated Proteomics: protein expression 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 expressions with HNF1A: view

Orthologs for HNF1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for HNF1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HNF1A 35
  • 100 (n)
  • 100 (a)
HNF1A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HNF1A 35
  • 92.23 (n)
  • 95.72 (a)
HNF1A 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HNF1 36
  • 97 (a)
OneToOne
HNF1A 35
  • 92.08 (n)
  • 96.67 (a)
mouse
(Mus musculus)
Mammalia Hnf1a 35
  • 88.54 (n)
  • 95.22 (a)
Hnf1a 16
Hnf1a 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HNF1A 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HNF1A 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hnf1a 35
  • 88.91 (n)
  • 94.9 (a)
chicken
(Gallus gallus)
Aves HNF1A 35
  • 75.2 (n)
  • 79.52 (a)
HNF1A 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia tcf1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hnf1a 35
  • 68.38 (n)
  • 70.26 (a)
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

Relevant External Links for HNF1A Gene

HapMap Linkage Disequilibrium report
HNF1A
Human Gene Mutation Database (HGMD)
HNF1A
Locus Specific Mutation Databases (LSDB)
HNF1A

Disorders for HNF1A Gene

(6) OMIM Diseases for HNF1A Gene (142410)

UniProtKB/Swiss-Prot

HNF1A_HUMAN
  • 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.
  • 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.

(4) University of Copenhagen DISEASES for HNF1A Gene

(50) Novoseek inferred disease relationships for HNF1A Gene

Disease -log(P) Hits PubMed IDs
niddm 82.9 90
mody6 82.8 2
adenoma hepatocellular 68.3 9
adenoma liver 63.7 3
hyperglycemia 55.1 4

Relevant External Links for HNF1A

Genetic Association Database (GAD)
HNF1A
Human Genome Epidemiology (HuGE) Navigator
HNF1A
genes like me logo Genes that share disorders with HNF1A: view

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 3 23
  2. Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse. (PMID: 1707031) Bach I. … Yaniv M. (Genomics 1990) 3 4 23
  3. More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. (PMID: 7900999) Bach I. … Yaniv M. (EMBO J. 1993) 3 4 23
  4. Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects. (PMID: 9287055) Yamada S. … Takeda J. (Diabetes 1997) 3 4 23
  5. Identification of mutations in the hepatocyte nuclear factor (HNF)-1- alpha gene in Japanese subjects with IDDM. (PMID: 9313763) Yamada S. … Takeda J. (Diabetes 1997) 3 4 23

Products for HNF1A Gene

  • Addgene plasmids for HNF1A

Sources for HNF1A Gene

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