This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is in... See more...

Aliases for HEPN1 Gene

Aliases for HEPN1 Gene

  • Hepatocellular Carcinoma, Down-Regulated 1 2 3 5
  • Putative Cancer Susceptibility Gene HEPN1 Protein 3 4
  • Cancer Susceptibility Gene HEPN1 2 3
  • HEPACAM Opposite Strand 1 2 3
  • HEPN1 5

External Ids for HEPN1 Gene

Previous GeneCards Identifiers for HEPN1 Gene

  • GC11U900685
  • GC11P124294
  • GC11P124789
  • GC11P120731

Summaries for HEPN1 Gene

Entrez Gene Summary for HEPN1 Gene

  • This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). Also to note is that this gene maps to the 3'-noncoding region of HEPACAM gene (GeneID:220296) on the antisense strand (PMID:15885354). [provided by RefSeq, Aug 2011]

GeneCards Summary for HEPN1 Gene

HEPN1 (Hepatocellular Carcinoma, Down-Regulated 1) is a Protein Coding gene. Diseases associated with HEPN1 include Hepatocellular Carcinoma.

Additional gene information for HEPN1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEPN1 Gene

Genomics for HEPN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HEPN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J124919 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.6 1608 1.9 TEAD4 KDM1A GABPA RBFOX2 EZH2 CEBPB RBM22 NR2F2 CTCF POLR2A HEPN1 HEPACAM piR-37481 LOC107984406
GH11J124918 Enhancer 0.4 dbSUPER 600.7 -0.6 -555 1.1 ZNF316 MAFF MAFK HEPN1 piR-50357-032 HEPACAM ROBO4 LOC107984406
GH11J124942 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +24.2 24247 2.2 RCOR2 RXRB GABPA SOX13 TCF7 ZBTB26 ZKSCAN8 FOXA2 CREM SAP130 HSALNG0087928 HEPACAM ENSG00000254943 ROBO3 HEPN1 PKNOX2 piR-56883-041 CCDC15 LOC107984406
GH11J124934 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 0.4 +15.8 15826 2.1 CTCF RBFOX2 SP1 CEBPA SOX13 CEBPB FOXA2 ATF3 YY1 GABPA HEPACAM piR-37481 ROBO3 HEPN1 LOC107984406
GH11J124915 Enhancer 0.7 ENCODE dbSUPER 0.7 -2.4 -2360 2 CEBPA CTCF CEBPB RBM22 POLR2A RAD21 TFAP4 HLF FOXA3 CEBPG ROBO3 ROBO4 HEPN1 piR-50357-032 LOC107984406
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEPN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HEPN1

Top Transcription factor binding sites by QIAGEN in the HEPN1 gene promoter:
  • CUTL1
  • Egr-3
  • FOXO4
  • GATA-1
  • ISGF-3
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP
  • TFIID

Genomic Locations for HEPN1 Gene

Genomic Locations for HEPN1 Gene
chr11:124,919,244-124,920,677
(GRCh38/hg38)
Size:
1,434 bases
Orientation:
Plus strand
chr11:124,789,146-124,790,573
(GRCh37/hg19)
Size:
1,428 bases
Orientation:
Plus strand

Genomic View for HEPN1 Gene

Genes around HEPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEPN1 Gene

Proteins for HEPN1 Gene

  • Protein details for HEPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6WQI6-HEPN1_HUMAN
    Recommended name:
    Putative cancer susceptibility gene HEPN1 protein
    Protein Accession:
    Q6WQI6

    Protein attributes for HEPN1 Gene

    Size:
    88 amino acids
    Molecular mass:
    10305 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HEPN1 Gene

Post-translational modifications for HEPN1 Gene

No Post-translational modifications

Other Protein References for HEPN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HEPN1 Gene

Domains & Families for HEPN1 Gene

Gene Families for HEPN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HEPN1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for HEPN1 Gene

GenScript: Design optimal peptide antigens:
  • Putative cancer susceptibility gene HEPN1 protein (HEPN1_HUMAN)
genes like me logo Genes that share domains with HEPN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HEPN1 Gene

Function for HEPN1 Gene

Phenotypes From GWAS Catalog for HEPN1 Gene

genes like me logo Genes that share phenotypes with HEPN1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEPN1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HEPN1 Gene

Localization for HEPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEPN1 Gene

Cytoplasm.

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 HEPN1 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HEPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with HEPN1: view

Pathways & Interactions for HEPN1 Gene

PathCards logo

SuperPathways for HEPN1 Gene

No Data Available

Interacting Proteins for HEPN1 Gene

Gene Ontology (GO) - Biological Process for HEPN1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HEPN1 Gene

Drugs & Compounds for HEPN1 Gene

No Compound Related Data Available

Transcripts for HEPN1 Gene

mRNA/cDNA for HEPN1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEPN1

Alternative Splicing Database (ASD) splice patterns (SP) for HEPN1 Gene

No ASD Table

Relevant External Links for HEPN1 Gene

GeneLoc Exon Structure for
HEPN1

Expression for HEPN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HEPN1 Gene

mRNA expression in normal human tissues for HEPN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HEPN1

SOURCE GeneReport for Unigene cluster for HEPN1 Gene:

Hs.159863

mRNA Expression by UniProt/SwissProt for HEPN1 Gene:

Q6WQI6-HEPN1_HUMAN
Tissue specificity: Expressed in liver. Expression is either down-regulated or lost in hepatocellular carcinomas (HCC).

Evidence on tissue expression from TISSUES for HEPN1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with HEPN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEPN1 Gene

Orthologs for HEPN1 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for HEPN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HEPN1 30 31
  • 99.24 (n)
OneToOne
Species where no ortholog for HEPN1 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)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for HEPN1 Gene

ENSEMBL:
Gene Tree for HEPN1 (if available)
TreeFam:
Gene Tree for HEPN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HEPN1: view image

Paralogs for HEPN1 Gene

No data available for Paralogs for HEPN1 Gene

Variants for HEPN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HEPN1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
877471 Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts 124,919,903(+) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
877472 Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts 124,920,114(+) C/G THREE_PRIME_UTR_VARIANT
878496 Likely Benign: Megalencephalic leukoencephalopathy with subcortical cysts 124,920,307(+) C/A THREE_PRIME_UTR_VARIANT
878497 Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts 124,920,411(+) C/T THREE_PRIME_UTR_VARIANT
878498 Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts 124,920,429(+) G/A THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for HEPN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HEPN1 Gene

Variant ID Type Subtype PubMed ID
esv2745189 CNV deletion 23290073

Variation tolerance for HEPN1 Gene

Residual Variation Intolerance Score: 61.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEPN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEPN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEPN1 Gene

Disorders for HEPN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HEPN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards
Search HEPN1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with HEPN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEPN1 Gene

Publications for HEPN1 Gene

  1. HEPN1, a novel gene that is frequently down-regulated in hepatocellular carcinoma, suppresses cell growth and induces apoptosis in HepG2 cells. (PMID: 12971969) Moh MC … Shen S (Journal of hepatology 2003) 2 3 4
  2. Silencing of HEPN1 is responsible for the aggressive biological behavior of pituitary somatotroph adenomas. (PMID: 23548416) Peng H … Liao J (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2013) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. MicroRNA-21 promotes cell proliferation in human hepatocellular carcinoma partly by targeting HEPN1. (PMID: 25687183) Hu S … Gao Y (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2015) 3
  5. Reactive oxygen species increase HEPN1 expression via activation of the XBP1 transcription factor. (PMID: 25448679) Kim HS … Jung G (FEBS letters 2014) 3

Products for HEPN1 Gene

Sources for HEPN1 Gene