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HEPN1 Gene(Protein Coding)

Hepatocellular Carcinoma, Down-Regulated 1

GCID:
GC11P124919
GIFtS:
31
Genes Participants
UDN Logo

Aliases for HEPN1 Gene

Aliases for HEPN1 Gene

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

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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEPN1 Gene

Genomics for HEPN1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for HEPN1 Gene

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
GH11I124919 Enhancer 0.9 Ensembl ENCODE dbSUPER 550.8 +1.6 1608 1.9 POLR2A L3MBTL2 GABPA EZH2 HEPN1 HEPACAM PIR60526
GH11I124918 Enhancer 0.4 dbSUPER 550.8 -0.6 -555 1.1 ZNF316 MAFK GC11M124917 HEPN1 HEPACAM
GH11I124942 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 2.4 +23.5 23457 0.6 SOX5 SOX13 FOXA2 SAP130 MLX ZFP64 ZNF48 GABPA NFIL3 ZGPAT HEPACAM ENSG00000254943 HEPN1 PKNOX2 GC11M124934
GH11I124928 Enhancer 0.7 dbSUPER 0.4 +10.6 10637 3 FOXA2 NFIA RXRA MAX REST RAD21 GABPA YY1 JUND GATA3 LOC105369549 ROBO3 PIR60526 HEPACAM HEPN1
GH11I124922 Enhancer 0.2 dbSUPER 0.8 +4.0 3983 2 ROBO3 ROBO4 ENSG00000254943 CCDC15 HEPACAM LOC105369549 HEPN1 PIR60526
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HEPN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEPN1 gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for HEPN1 Gene

Proteins for HEPN1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for HEPN1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
genes like me logo Genes that share phenotypes with HEPN1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 1

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

SuperPathways for HEPN1 Gene

PathCards logo More details on SuperPathways for HEPN1
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HEPN1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HEPN1 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEPN1 Gene

Hepatocellular carcinoma, down-regulated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for HEPN1 Gene

GeneLoc Exon Structure for
HEPN1
ECgene alternative splicing isoforms for
HEPN1

Expression for HEPN1 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for HEPN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HEPN1 Gene:

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 33 34
  • 99.24 (n)
Species where no ortholog for HEPN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for HEPN1 Gene

No data available for Paralogs for HEPN1 Gene

Variants for HEPN1 Gene

Sequence variations from dbSNP and Humsavar for HEPN1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1028769707 uncertain-significance, Megalencephalic leukoencephalopathy with subcortical cysts 124,919,662(+) G/A 5_prime_UTR_variant
rs10893303 benign, uncertain-significance, Megalencephalic leukoencephalopathy with subcortical cysts 124,921,026(+) C/A/G/T downstream_transcript_variant
rs112607377 uncertain-significance, Megalencephalic leukoencephalopathy with subcortical cysts 124,919,286(+) G/C 5_prime_UTR_variant
rs12576272 uncertain-significance, Megalencephalic leukoencephalopathy with subcortical cysts 124,920,678(+) C/A downstream_transcript_variant
rs143343787 uncertain-significance, Megalencephalic leukoencephalopathy with subcortical cysts 124,920,868(+) G/C downstream_transcript_variant

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

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

Additional Disease Information for HEPN1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  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 58
  5. Reactive oxygen species increase HEPN1 expression via activation of the XBP1 transcription factor. (PMID: 25448679) Kim HS … Jung G (FEBS letters 2014) 3 58

Products for HEPN1 Gene

Sources for HEPN1 Gene

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