This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it ma... See more...

Aliases for ONECUT1 Gene

Aliases for ONECUT1 Gene

  • One Cut Homeobox 1 2 3 4 5
  • HNF-6 2 3 4
  • One Cut Domain Family Member 1 3 4
  • Hepatocyte Nuclear Factor 6 3 4
  • HNF6A 3 4
  • HNF6 3 4
  • Hepatocyte Nuclear Factor 6, Alpha 3
  • One Cut Domain, Family Member 1 2
  • ONECUT1 5

External Ids for ONECUT1 Gene

Previous HGNC Symbols for ONECUT1 Gene

  • HNF6
  • HNF6A

Previous GeneCards Identifiers for ONECUT1 Gene

  • GC15M048607
  • GC15M046096
  • GC15M050628
  • GC15M050765
  • GC15M050836
  • GC15M053049
  • GC15M029879
  • GC15M052756
  • GC15M059715
  • GC15M060601
  • GC15M061447

Summaries for ONECUT1 Gene

Entrez Gene Summary for ONECUT1 Gene

  • This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for ONECUT1 Gene

ONECUT1 (One Cut Homeobox 1) is a Protein Coding gene. Diseases associated with ONECUT1 include Hemophilia B and Maturity-Onset Diabetes Of The Young. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is ONECUT2.

UniProtKB/Swiss-Prot Summary for ONECUT1 Gene

  • Transcriptional activator. Binds the consensus sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR. Important for liver genes transcription.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ONECUT1 Gene

Genomics for ONECUT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ONECUT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ONECUT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ONECUT1

Top Transcription factor binding sites by QIAGEN in the ONECUT1 gene promoter:
  • CUTL1
  • E2F
  • NF-1
  • NF-1/L
  • NRSF form 1
  • NRSF form 2
  • p300
  • TBP

Genomic Locations for ONECUT1 Gene

Latest Assembly
chr15:52,755,053-52,791,078
(GRCh38/hg38)
Size:
36,026 bases
Orientation:
Minus strand

Previous Assembly
chr15:53,047,250-53,082,533
(GRCh37/hg19 by Entrez Gene)
Size:
35,284 bases
Orientation:
Minus strand

chr15:53,049,637-53,083,273
(GRCh37/hg19 by Ensembl)
Size:
33,637 bases
Orientation:
Minus strand

Genomic View for ONECUT1 Gene

Genes around ONECUT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ONECUT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ONECUT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ONECUT1 Gene

Proteins for ONECUT1 Gene

  • Protein details for ONECUT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBC0-HNF6_HUMAN
    Recommended name:
    Hepatocyte nuclear factor 6
    Protein Accession:
    Q9UBC0
    Secondary Accessions:
    • B2RTV4
    • Q99744
    • Q9UMR6

    Protein attributes for ONECUT1 Gene

    Size:
    465 amino acids
    Molecular mass:
    51023 Da
    Quaternary structure:
    • Binds DNA as a monomer.

neXtProt entry for ONECUT1 Gene

Post-translational modifications for ONECUT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ONECUT1 Gene

Antibodies for research

  • Abcam antibodies for ONECUT1

No data available for DME Specific Peptides for ONECUT1 Gene

Domains & Families for ONECUT1 Gene

Gene Families for ONECUT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ONECUT1 Gene

InterPro:
Blocks:
  • Homeodomain protein CUT

Suggested Antigen Peptide Sequences for ONECUT1 Gene

GenScript: Design optimal peptide antigens:
  • One cut homeobox 1 (B2CNW3_HUMAN)
  • One cut homeobox 1 (HNF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBC0

UniProtKB/Swiss-Prot:

HNF6_HUMAN :
  • Belongs to the CUT homeobox family.
Family:
  • Belongs to the CUT homeobox family.
genes like me logo Genes that share domains with ONECUT1: view

Function for ONECUT1 Gene

Molecular function for ONECUT1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator. Binds the consensus sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR. Important for liver genes transcription.
GENATLAS Biochemistry:
one cut domain, family member 1,with a novel type of homeo domain,expressed in pancreatic beta cells,inhibiting the glucocorticoid-induced stimulation of two genes of the glucose metabolism,6-phosphofructo-2-kinase (PFKFB1) and PEPCK (PCK1,PCK2) via its interaction with the glucocorticoid reponse unit GRU of these genes,in cooperation with GRL,not mutated in NIDDM

Phenotypes From GWAS Catalog for ONECUT1 Gene

Gene Ontology (GO) - Molecular Function for ONECUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific ISS --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with ONECUT1: view
genes like me logo Genes that share phenotypes with ONECUT1: view

Animal Models for ONECUT1 Gene

MGI Knock Outs for ONECUT1:
Targeted motifs for ONECUT1 Gene
HOMER Transcription Factor Regulatory Elements motif ONECUT1
  • Consensus sequence: NTATYGATCH Submotif: canonical Cell Type: Liver GEO ID: ERP000394

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ONECUT1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for ONECUT1 Gene

Localization for ONECUT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ONECUT1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ONECUT1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ONECUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ONECUT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ONECUT1 Gene

Pathways & Interactions for ONECUT1 Gene

genes like me logo Genes that share pathways with ONECUT1: view

Gene Ontology (GO) - Biological Process for ONECUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0001952 regulation of cell-matrix adhesion IEA --
GO:0002064 epithelial cell development IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 10491763
genes like me logo Genes that share ontologies with ONECUT1: view

No data available for SIGNOR curated interactions for ONECUT1 Gene

Drugs & Compounds for ONECUT1 Gene

(2) Additional Compounds for ONECUT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ONECUT1: view

Transcripts for ONECUT1 Gene

mRNA/cDNA for ONECUT1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ONECUT1

Alternative Splicing Database (ASD) splice patterns (SP) for ONECUT1 Gene

No ASD Table

Relevant External Links for ONECUT1 Gene

GeneLoc Exon Structure for
ONECUT1

Expression for ONECUT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ONECUT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ONECUT1 Gene

This gene is overexpressed in Liver (x23.1), Pancreas (x20.8), and Testis (x7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ONECUT1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ONECUT1

SOURCE GeneReport for Unigene cluster for ONECUT1 Gene:

Hs.658573

mRNA Expression by UniProt/SwissProt for ONECUT1 Gene:

Q9UBC0-HNF6_HUMAN
Tissue specificity: Highly expressed in liver; lower expression in testis and skin.

Evidence on tissue expression from TISSUES for ONECUT1 Gene

  • Liver(3.4)
  • Pancreas(2.6)
  • Gall bladder(2.3)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with ONECUT1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ONECUT1 Gene

Orthologs for ONECUT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ONECUT1 Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia ONECUT1 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia ONECUT1 29 30
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ONECUT1 29 30
  • 96.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ONECUT1 29 30
  • 95.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ONECUT1 30
  • 94 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Onecut1 29
  • 93.98 (n)
Mouse
(Mus musculus)
Mammalia Onecut1 29 16 30
  • 93.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 59 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia onecut1 29
  • 78.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii onecut1 29 30
  • 76.7 (n)
OneToOne
zgc65904 29
Fruit Fly
(Drosophila melanogaster)
Insecta onecut 30 31
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ceh-48 30
  • 37 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 29 (a)
OneToMany
Species where no ortholog for ONECUT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for ONECUT1 Gene

ENSEMBL:
Gene Tree for ONECUT1 (if available)
TreeFam:
Gene Tree for ONECUT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ONECUT1: view image
Alliance of Genome Resources:
Additional Orthologs for ONECUT1

Paralogs for ONECUT1 Gene

Paralogs for ONECUT1 Gene

(2) SIMAP similar genes for ONECUT1 Gene using alignment to 4 proteins:

  • HNF6_HUMAN
  • B2CNW3_HUMAN
  • H0YMS2_HUMAN
  • U3KQR8_HUMAN
genes like me logo Genes that share paralogs with ONECUT1: view

Variants for ONECUT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ONECUT1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs749522422 Likely Benign: not provided 52,757,684(-) C/T
NM_004498.4(ONECUT1):c.1269G>A (p.Gly423=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs74805019 -- p.Pro75Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ONECUT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ONECUT1 Gene

Variant ID Type Subtype PubMed ID
nsv1046970 CNV gain 25217958
nsv457142 CNV gain 19166990
nsv471245 CNV gain 18288195
nsv569427 CNV gain 21841781
nsv569428 CNV loss 21841781
nsv951960 CNV deletion 24416366

Variation tolerance for ONECUT1 Gene

Residual Variation Intolerance Score: 48.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ONECUT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ONECUT1
Leiden Open Variation Database (LOVD)
ONECUT1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ONECUT1 Gene

Disorders for ONECUT1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ONECUT1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hemophilia b
  • hemb
maturity-onset diabetes of the young
  • mody
neonatal diabetes
  • diabetes mellitus syndrome in newborn infant
pancreatic agenesis
  • partial pancreatic agenesis
alagille syndrome 1
  • algs1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ONECUT1

genes like me logo Genes that share disorders with ONECUT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ONECUT1 Gene

Publications for ONECUT1 Gene

  1. Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. (PMID: 10491763) Møller AM … Pedersen O (Diabetologia 1999) 3 4 22
  2. Loss of ONECUT1 expression in human pancreatic cancer cells. (PMID: 18097590) Jiang X … Kleeff J (Oncology reports 2008) 3 22
  3. Orphan nuclear receptor SHP interacts with and represses hepatocyte nuclear factor-6 (HNF-6) transactivation. (PMID: 18459945) Lee YS … Choi HS (The Biochemical journal 2008) 3 22
  4. The hepatocyte nuclear factor 6 (HNF6) and FOXA2 are key regulators in colorectal liver metastases. (PMID: 17283222) Lehner F … Borlak J (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007) 3 22
  5. Pattern of genes influenced by conditional expression of the transcription factors HNF6, HNF4alpha and HNF1beta in a pancreatic beta-cell line. (PMID: 15520459) Thomas H … Ryffel GU (Nucleic acids research 2004) 3 22

Products for ONECUT1 Gene

Sources for ONECUT1 Gene