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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HRNR Gene

protein-coding   GIFtS: 44
GCID: GC01M152184

hornerin

 Explore 4 diseases affiliated with
HRNR via our new
 Human Malady Compendium 
Biological research products
for HRNR
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hornerin1     Filaggrin Family Member 32
FLG31 2     Intermediate Filament-Associated Protein2
S100A161 2     S100A183
S100a181 2     

External Ids:    HGNC: 208461   Entrez Gene: 3886972   Ensembl: ENSG000001979157   UniProtKB: Q86YZ33   

Export aliases for HRNR gene to outside databases

Previous GC identifers: GC01M148998 GC01M150451 GC01M123561


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

UniProtKB/Swiss-Prot: HORN_HUMAN, Q86YZ3
Function: May play a role in cornification




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_018912.1  NC_000001.10  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HRNR gene promoter:
         Pax-2b   Brachyury   FOXJ2 (long isoform)   Pax-2   STAT5A   Pax-2a   FOXJ2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHRNR promoter sequence
   Search SABiosciences Chromatin IP Primers for HRNR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HRNR


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

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M152184:  view genomic region     (about GC identifiers)

Start:
152,184,558 bp from pter      End:
152,196,669 bp from pter
Size:
12,112 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HORN_HUMAN, Q86YZ3 (See protein sequence)
Recommended Name: Hornerin  
Size: 2850 amino acids; 282390 Da
Subcellular location: Cytoplasmic granule (By similarity). Note=Found in keratohyalin granules in the granular cells of
the epidermis (By similarity)
Secondary accessions: Q5U1F4

Explore the universe of human proteins at neXtProt for HRNR: NX_Q86YZ3

Post-translational modifications:

  • Processed during the process of epidermal differentiation (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86YZ3

  • HRNR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001009931.1  
    ENSEMBL proteins: 
     ENSP00000357791  

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    Uscn Proteins for HRNR

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope IEA--
    GO:0070062extracellular vesicular exosome IDA--


    HRNR for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HRNR for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR020922 Nucleoside-triphosphatase
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR013787 S100_Ca-bd_sub
     IPR001240 PRAI

    Graphical View of Domain Structure for InterPro Entry Q86YZ3

    ProtoNet protein and cluster: Q86YZ3

    1 Blocks protein family: IPB001751 Calcium-binding protein

    UniProtKB/Swiss-Prot: HORN_HUMAN, Q86YZ3
    Similarity: Belongs to the S100-fused protein family
    Similarity: In the N-terminal section; belongs to the S-100 family
    Similarity: Contains 2 EF-hand domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HORN_HUMAN, Q86YZ3
    Function: May play a role in cornification

    miRNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004640phosphoribosylanthranilate isomerase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--


    HRNR for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HRNR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/79 Interacting proteins for HRNR (Q86YZ32, 3 ENSP000003577914) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3318772 MINT-3318788 I2D: score=1 STRING: ENSP00000309503
    BTKQ061873, ENSP000003081764I2D: score=1 STRING: ENSP00000308176
    KHDRBS2Q5VWX13, ENSP000002811564I2D: score=1 STRING: ENSP00000281156
    RAD51CO435023, ENSP000003367014I2D: score=1 STRING: ENSP00000336701
    OTUD4Q018043, ENSP000004092794I2D: score=1 STRING: ENSP00000409279
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006568tryptophan metabolic process IEA--
    GO:0009143nucleoside triphosphate catabolic process IEA--
    GO:0031424keratinization IEA--


    HRNR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HRNR
    Search CenterWatch for drugs/clinical trials and news about HRNR / HORN 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HRNR gene: 
    NM_001009931.2  

    Unigene Cluster for HRNR:

    Hornerin
    Hs.490162  [show with all ESTs]
    Unigene Representative Sequence: AY396741
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368801(uc001ezt.1)

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    hsa-miR-2052 hsa-miR-3161 hsa-miR-433 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-3145-3p
    SwitchGear 3'UTR luciferase reporter plasmidHRNR 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HRNR
    OriGene shRNA RFP: HRNR
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HRNR
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HRNR

    Additional cDNA sequence: 

    AB104446.1 AB180729.1 AY396741.1 

    1 DOTS entry:

    DT.100696948 

    1 AceView cDNA sequence:

    AB104446 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HRNR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAATACAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HRNR Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.490162

    UniProtKB/Swiss-Prot: HORN_HUMAN, Q86YZ3
    Tissue specificity: Expressed in psoriatic and regenerating skin after wounding

        SABiosciences Custom PCR Arrays for HRNR
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HRNR

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HRNR gene from 1/3 species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia TCHHL16
    --
    15(a)
    1 → many
    GL343369.1(7-2795)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HRNR gene
    FLG22  RPTN2  FLG2  CRNN2  TCHHL12  
    15 SIMAP similar genes for HRNR using alignment to 2 protein entries:     HORN_HUMAN (see all proteins):
    FLG    S100A9    S100B    S100A12    S100A2    S100G
    S100Z    S100A16    S100A11    S100A6    S100A13    S100A8
    S100A5    S100A10    FLG2

    HRNR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/740 NCBI SNPs in HRNR are shown (see all 740    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2021758271,2
    C,Fother152188015(+) TGTTGG/ACCACA 2 /G syn11Minor allele frequency- A:0.03EU 1253
    rs1392256751,2
    C,F,other152191594(+) GAGAAG/ATGACC 2 /H syn11Minor allele frequency- A:0.00NA 4548
    rs1142778341,2
    F,--152184101(+) AGCACG/AAACAC 1 -- ds50011Minor allele frequency- A:0.08WA 118
    rs115895871,2
    C,F,H,--152184129(+) AAATAT/CTTTTT 1 -- ds50014Minor allele frequency- C:0.33NA EA 244
    rs48457431,2
    C,F,A,H,--152184149(+) CATTAT/CTCTGT 1 -- ds500123Minor allele frequency- C:0.39NS EA NA CSA WA 2762
    rs344283061,2
    C,F,--152184316(+) TGACAG/CCTCCA 1 -- ds50016Minor allele frequency- C:0.28WA NA CSA 246
    rs1385639961,2
    --152184370(+) CCAATA/GCCAGT 1 -- ds50010--------
    rs1849453241,2
    --152184386(+) GGAATG/TTTGAT 1 -- ds50010--------
    rs1411554661,2
    --152184477(+) GAAATC/TGCTGT 1 -- ds50010--------
    rs14960471,2
    C,F,H,--152184487(-) ACCAAC/ACCAAA 1 -- ds500121Minor allele frequency- A:0.08NS NA WA CSA EA 1672

    HapMap Linkage Disequilibrium report for HRNR (152184558 - 152196669 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for HRNR
         13 CNVs: 84572 70031 43740 74712 34710 31660 70030 23340 74711 30437 84571 34709 0392

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    (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.)
    About This Section

    HRNR for disorders           About GeneDecksing

    4 diseases for HRNR:    About MalaCards
    irritant dermatitis    atopic dermatitis    dermatitis    eczema

    Human Genome Epidemiology (HuGE) Navigator: HRNR (1 document)

    Export disorders for HRNR 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)
    About This Section

    PubMed articles for HRNR gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with HRNR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human hornerin and its expression in regenerating and psoriatic skin. (PubMed id 15507446)1, 2, 9 Takaishi M.... Huh N.-H. (2005)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. Highly complex peptide aggregates of the S100 fused-type protein hornerin are present in human skin. (PubMed id 19020553)1, 9 Wu Z....SchrAPder J.M. (2009)
    4. Hornerin, an S100 family protein, is functional in bre ast cells and aberrantly expressed in breast cancer. (PubMed id 22727333)1 Fleming J.M....Vonderhaar B.K. (2012)
    5. Proteomic identification of common SCF ubiquitin ligas e FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (2012)
    6. An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)1 Neganova I....Lako M. (2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Hornerin is a component of the epidermal cornified ce ll envelopes. (PubMed id 21282207)1 Henry J....Simon M. (2011)
    9. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 388697 HGNC: 20846 AceView: LOC388697 Ensembl:ENSG00000197915 euGenes: HUgn388697
    ECgene: HRNR H-InvDB: HRNR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HRNR Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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