Aliases for HEPN1 Gene
Aliases for HEPN1 Gene
External Ids for HEPN1 Gene
- HGNC: 34400
- Entrez Gene: 641654
- Ensembl: ENSG00000221932
- OMIM: 611641
- UniProtKB: Q6WQI6
Previous GeneCards Identifiers for HEPN1 Gene
- GC11U900685
- GC11P124294
- GC11P124789
- GC11P120731
Summaries 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.
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
Regulatory Elements for HEPN1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH11G124942 | 1.3 | FANTOM5 ENCODE dbSUPER | 2.4 | +23.5 | 23457 | 0.6 | SOX13 FOXA2 SAP130 MLX ZFP64 CEBPG ZNF48 GATA4 GATA2 FOS | HEPACAM ENSG00000254943 HEPN1 PKNOX2 GC11M124934 |
| GH11G124919 | 1.2 | Ensembl ENCODE dbSUPER | 0.7 | +1.6 | 1608 | 1.9 | RNF2 L3MBTL2 SUZ12 TEAD4 RBBP5 RAD21 GABPA POLR2A KDM1A RBFOX2 | HEPACAM HEPN1 PIR60526 |
| GH11G124922 | 0.7 | dbSUPER | 0.7 | +4.0 | 3983 | 2.0 | CTCF ESRRA ZNF654 PKNOX1 NR2F1 TRIM22 REST ZNF384 RAD21 EGR1 | ROBO3 ROBO4 ENSG00000254943 CCDC15 HEPACAM HEPN1 PIR60526 |
| GH11G124928 | 1.1 | dbSUPER | 0.4 | +10.8 | 10833 | 2.6 | HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS ZNF263 | ROBO3 PIR60526 HEPN1 |
| GH11G124930 | 1.1 | dbSUPER | 0.4 | +10.8 | 10773 | 2.2 | HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 ZNF263 SP3 | ROBO3 PIR60526 HEPN1 |
- Transcription factor binding sites by QIAGEN in the HEPN1 gene promoter:
Regulatory Element Products
Genomic Location for HEPN1 Gene
- Chromosome:
- 11
- Start:
- 124,919,244 bp from pter
- End:
- 124,920,677 bp from pter
- Size:
- 1,434 bases
- Orientation:
- Plus strand
Genomic View for HEPN1 Gene
- Cytogenetic band:
-
- 11q24.2 by Ensembl
- 11q24.2 by Entrez Gene
- 11q24.2 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
Post-translational modifications for HEPN1 Gene
Other Protein References for HEPN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
Abcam antibodies for HEPN1
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Protein Products
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Assay Products
No data available for DME Specific Peptides for HEPN1 Gene
Domains & Families for HEPN1 Gene
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
No data available for Gene Families and UniProtKB/Swiss-Prot for HEPN1 Gene
Function for HEPN1 Gene
Phenotypes for HEPN1 Gene
- GenomeRNAi human phenotypes for HEPN1:
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-
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-
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-
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Inhibitory RNA Products
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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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
Transcripts for HEPN1 Gene
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
-
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-
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Expression for HEPN1 Gene
NURSA nuclear receptor signaling pathways regulating expression of HEPN1 Gene:
HEPN1SOURCE GeneReport for Unigene cluster for HEPN1 Gene:
Hs.159863mRNA Expression by UniProt/SwissProt for HEPN1 Gene:
Q6WQI6-HEPN1_HUMANEvidence on tissue expression from TISSUES for HEPN1 Gene
- Nervous system(4.6)
Primer Products
-
OriGene qPCR primer pairs for HEPN1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HEPN1 34 35 |
|
- 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)
Paralogs for HEPN1 Gene
No data available for Paralogs for HEPN1 Gene
Variants for HEPN1 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs192160991 | Likely benign | 124,921,088(+) | CCCCC(C/G)GGCCA | intron-variant, downstream-variant-500B, utr-variant-3-prime | |
| rs75988347 | Likely benign | 124,920,800(+) | ACGGG(G/T)GTTAG | intron-variant, downstream-variant-500B, utr-variant-3-prime | |
| rs78859654 | Likely benign | 124,919,932(+) | CTGCC(A/T)CTCCT | intron-variant, reference, missense, utr-variant-3-prime | |
| rs10893303 | Uncertain significance | 124,921,026(+) | GCCCC(A/C/G/T)CCGGG | intron-variant, downstream-variant-500B, utr-variant-3-prime | |
| rs112607377 | Uncertain significance | 124,919,286(+) | TGCTA(C/G)GCACT | intron-variant, utr-variant-3-prime, utr-variant-5-prime |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2745189 | CNV | deletion | 23290073 |
Relevant External Links 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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hepatocellular carcinoma |
|
|
Relevant External Links for HEPN1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HEPN1
No data available for UniProtKB/Swiss-Prot and Genatlas for HEPN1 Gene
Publications for HEPN1 Gene
- HEPN1, a novel gene that is frequently down-regulated in hepatocellular carcinoma, suppresses cell growth and induces apoptosis in HepG2 cells. (PMID: 12971969) Moh M.C. … Shen S. (J. Hepatol. 2003) 2 3 4 64
- Silencing of HEPN1 is responsible for the aggressive biological behavior of pituitary somatotroph adenomas. (PMID: 23548416) Peng H. … Liao J. (Cell. Physiol. Biochem. 2013) 2 3 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- MicroRNA-21 promotes cell proliferation in human hepatocellular carcinoma partly by targeting HEPN1. (PMID: 25687183) Hu S. … Gao Y. (Tumour Biol. 2015) 3 64
- Reactive oxygen species increase HEPN1 expression via activation of the XBP1 transcription factor. (PMID: 25448679) Kim H.S. … Jung G. (FEBS Lett. 2014) 3 64
Products for HEPN1 Gene
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- Yeast expression
Sources for HEPN1 Gene
- (1) GeneCards
- (2) HGNC
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