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HEPN1 Gene

protein-coding   GIFtS: 35
GCID: GC11P124789

Hepatocellular Carcinoma, Down-Regulated 1

(Previous name: HEPACAM opposite strand 1)
  See HEPN1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hepatocellular Carcinoma, Down-Regulated 11 2
HEPACAM Opposite Strand 11 2
Cancer Susceptibility Gene HEPN11 2
Putative Cancer Susceptibility Gene HEPN1 Protein2

External Ids:    HGNC: 344001   Entrez Gene: 6416542   Ensembl: ENSG000002219327   OMIM: 6116415   UniProtKB: Q6WQI63   

Export aliases for HEPN1 gene to outside databases

Previous GC identifers: GC11U900685 GC11P124294 GC11P120731


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the HEPN1 gene promoter:
         TBP   Egr-3   ISGF-3   CUTL1   GATA-1   PPAR-gamma1   POU2F1a   TFIID   FOXO4   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHEPN1 promoter sequence
   Search Chromatin IP Primers for HEPN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HEPN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q24   Ensembl cytogenetic band:  11q24.2   HGNC cytogenetic band: 11q24

HEPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEPN1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P124789:  view genomic region     (about GC identifiers)

Start:
124,789,146 bp from pter      End:
124,790,573 bp from pter
Size:
1,428 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: HEPN1_HUMAN, Q6WQI6 (See protein sequence)
Recommended Name: Putative cancer susceptibility gene HEPN1 protein  
Size: 88 amino acids; 10305 Da
Caution: Product of a dubious CDS prediction. Encoded by the 3'-UTR of HEPACAM

Explore the universe of human proteins at neXtProt for HEPN1: NX_Q6WQI6

Explore proteomics data for HEPN1 at MOPED


See HEPN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001032647.2  
ENSEMBL proteins: 
 ENSP00000386143  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q6WQI6


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for HEPN1

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HEPN1_HUMAN, Q6WQI6: Cytoplasm
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

Find genes that share ontologies with HEPN1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HEPN1
Interactions:

    Search GeneGlobe Interaction Network for HEPN1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for HEPN1 gene: 
NM_001037558.2  

Unigene Cluster for HEPN1:

Hepatocellular carcinoma, down-regulated 1
Hs.159863  [show with all ESTs]
Unigene Representative Sequence: NM_001037558
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000408930(uc001qbj.1)
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Additional mRNA sequence: AY275431.1 

2 DOTS entries:

DT.104983  DT.95215971 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HEPN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
HEPN1 Expression
About this image

HEPN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HEPN1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.159863

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

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEPN1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and chimp.

Orthologs for HEPN1 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia HEPN11 hepatocellular carcinoma, down-regulated 1 99.24(n)
97.73(a)
  101057279  XM_003952058.1  XP_003952107.1 


ENSEMBL Gene Tree for HEPN1 (if available)
TreeFam Gene Tree for HEPN1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HEPN1 (see all 22)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1511843851,2
--124787226(+) GGAATC/TCCCCC 1 -- us2k10--------
rs1906702201,2
C--124787363(+) TCTGGC/TGAGGG 1 -- us2k10--------
rs1840918271,2
--124787375(+) TGGTCC/TAAATG 1 -- us2k10--------
rs352734231,2
C--124787412(+) TGCCT-/AGGTGT 1 -- us2k11Minor allele frequency- A:0.50NA 2
rs1453129671,2
C--124787413(+) GCCTG-/AGTGTT 1 -- us2k10--------
rs118228981,2
C,F,A,H--124787529(+) gctgcC/Tgggtg 1 -- us2k111Minor allele frequency- T:0.30NS EA WA NA CSA 785
rs730164021,2
C,F--124787623(+) AGGTAT/GTGTGA 1 -- us2k11Minor allele frequency- G:0.08EA 120
rs343495231,2
C--124788128(+) AAAAA-/ATTCCC 1 -- us2k10--------
rs349404651,2
C--124788143(+) AAAAAA/TTTCCC 1 -- us2k10--------
rs1889411341,2
--124788186(+) ATCATG/TTAAGC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for HEPN1 (124789146 - 124790573 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for HEPN1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2745189CNV Deletion23290073

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing HEPN1
DNA2.0 Custom Variant and Variant Library Synthesis for HEPN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611641    OMIM disorders: --

1 disease for HEPN1:    
About MalaCards
hepatocellular carcinoma


Find genes that share disorders with HEPN1           About GenesLikeMe


Export disorders for HEPN1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for HEPN1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with HEPN1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. HEPN1, a novel gene that is frequently down-regulated in hepatocellular carcinoma, suppresses cell growth and induces apoptosis in HepG2 cells. (PubMed id 12971969)1, 2, 3 Moh M.C.... Shen S. (J. Hepatol. 2003)
  2. Silencing of HEPN1 is responsible for the aggressive biological behavior of pituitary somatotroph adenomas. (PubMed id 23548416)1, 3 Peng H....Liao J. (Cell. Physiol. Biochem. 2013)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma. (PubMed id 15885354)1 Moh M.C.... Shen S. (J. Hepatol. 2005)
  5. Structural and functional analyses of a novel Ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells. (PubMed id 15917256)1 Moh M.C.... Shen S. (J. Biol. Chem. 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 641654 HGNC: 34400 Ensembl:ENSG00000221932 euGenes: HUgn641654 ECgene: HEPN1
H-InvDB: HEPN1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for HEPN1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for HEPN1 gene:
Search GeneIP for patents involving HEPN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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