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

ARIH1 Gene

protein-coding   GIFtS: 60
GCID: GC15P072766

Ariadne RBR E3 Ubiquitin Protein Ligase 1

(Previous names: ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ariadne RBR E3 Ubiquitin Protein Ligase 11     HHARI2 3
ARI2 3 5     MOP-62 3
UBCH7BP2 3 5     Drosophila1
Ariadne Homolog, Ubiquitin-Conjugating Enzyme E2 Binding Protein, 1
(Drosophila)1 2
     ariadne1
Monocyte Protein 62 3     Ariadne (Drosophila) Homolog, Ubiquitin-Conjugating Enzyme E2-Binding
Protein, 11
Protein Ariadne-1 Homolog2 3     Homolog Of1
UbcH7-Binding Protein2 3     HARI2
UbcM4-Interacting Protein2 3     Ariadne, Drosophila, Homolog Of2
Ubiquitin-Conjugating Enzyme E2-Binding Protein 12 3     E3 Ubiquitin-Protein Ligase ARIH12
ARI-12 3     EC 6.3.2.-3
H7-AP22 3     MOP63

External Ids:    HGNC: 6891   Entrez Gene: 258202   Ensembl: ENSG000001662337   OMIM: 6056245   UniProtKB: Q9Y4X53   

Export aliases for ARIH1 gene to outside databases

Previous GC identifers: GC15P068568 GC15P065871 GC15P070342 GC15P070482 GC15P070553 GC15P049597


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

GeneCards Summary for ARIH1 Gene: 
ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1) is a protein-coding gene. Diseases associated with ARIH1 include bovine spongiform encephalopathy, and pancreatic cancer, and among its related super-pathways are Interferon Signaling and Adaptive Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity and small conjugating protein ligase activity. An important paralog of this gene is ANKIB1.

UniProtKB/Swiss-Prot: ARI1_HUMAN, Q9Y4X5
Function: E3 ubiquitin-protein ligase, which catalyzes polyubiquitination of target proteins together with
ubiquitin-conjugating enzyme E2 UBE2L3. May play a role in protein translation by mediating polyubiquitination of
EIF4E2, leading to its subsequent degradation

Gene Wiki entry for ARIH1 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARIH1 gene promoter:
         Bach1   ER-alpha   C/EBPbeta   RFX1   Sp1   p300   CREB   E2F-1   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARIH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ARIH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARIH1


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

Entrez Gene cytogenetic band: 15q24   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q24

ARIH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARIH1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P072766:  view genomic region     (about GC identifiers)

Start:
72,766,667 bp from pter      End:
72,879,692 bp from pter
Size:
113,026 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARI1_HUMAN, Q9Y4X5 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase ARIH1  
Size: 557 amino acids; 64118 Da
Subunit: Interacts with UBE2L3
Subcellular location: Cytoplasm. Note=Mainly cytoplasmic
Miscellaneous: Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme
UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate
trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING
domain (PubMed:21532592)
3 PDB 3D structures from and Proteopedia for ARIH1:
1WD2 (3D)        4KBL (3D)        4KC9 (3D)    
Secondary accessions: B2R6U3 O76026 Q9H3T6 Q9UEN0 Q9UP39

Explore the universe of human proteins at neXtProt for ARIH1: NX_Q9Y4X5

Explore proteomics data for ARIH1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y4X5

  • ARIH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARIH1 Protein Expression
    REFSEQ proteins: NP_005735.2  
    ENSEMBL proteins: 
     ENSP00000369217   ENSP00000456746   ENSP00000454774   ENSP00000457767  
    Reactome Protein details: Q9Y4X5
    Human Recombinant Protein Products for ARIH1: 
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    Cloud-Clone Corp. Proteins for ARIH1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex TAS10521492
    GO:0005737cytoplasm IDA11278816
    GO:0005829cytosol TAS--

    ARIH1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR002867 Znf_C6HC
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9Y4X5

    ProtoNet protein and cluster: Q9Y4X5

    2 Blocks protein domains:
    IPB001841 Zn-finger
    IPB002867 Zn-finger


    UniProtKB/Swiss-Prot: ARI1_HUMAN, Q9Y4X5
    Domain: The RING-type 2 zinc finger is atypical: it only binds 1 zinc ion instead of 2 and uses a different
    hydrophobic network compared to classical RING-types
    Similarity: Belongs to the RBR family. Ariadne subfamily
    Similarity: Contains 1 IBR-type zinc finger
    Similarity: Contains 2 RING-type zinc fingers


    ARIH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARI1_HUMAN, Q9Y4X5
    Function: E3 ubiquitin-protein ligase, which catalyzes polyubiquitination of target proteins together with
    ubiquitin-conjugating enzyme E2 UBE2L3. May play a role in protein translation by mediating polyubiquitination of
    EIF4E2, leading to its subsequent degradation

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA14623119
    GO:0005515protein binding IPI10521492
    GO:0008270zinc ion binding IDA15236971
    GO:0019787small conjugating protein ligase activity TAS10521492
    GO:0031625ubiquitin protein ligase binding IPI11278816
         
    ARIH1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ARIH1:
     Increased cell death HMECs cel  Increased cilium length  Increased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARIH1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARIH1 
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    hsa-miR-642a hsa-miR-429 hsa-miR-548k hsa-let-7a-2* hsa-miR-219-5p hsa-miR-186 hsa-miR-3909 hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidARIH1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARIH1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ARIH1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.61
    Antiviral mechanism by IFN-stimulated genes0.42
    Cytokine Signaling in Immune system0.61
    ISG15 antiviral mechanism0.42
    2Immune System
    Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for ARIH1
        Antiviral mechanism by IFN-stimulated genes
    Cytokine Signaling in Immune system
    Interferon Signaling
    ISG15 antiviral mechanism
    Immune System


    UniProtKB/Swiss-Prot: ARI1_HUMAN, Q9Y4X5
    Pathway: Protein modification; protein ubiquitination


    ARIH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARIH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/34 Interacting proteins for ARIH1 (Q9Y4X53 ENSP000003692174) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF4E2O605733, ENSP000002584164I2D: score=3 STRING: ENSP00000258416
    UBE2L6O149333, ENSP000002871564I2D: score=2 STRING: ENSP00000287156
    SIM2Q141903, ENSP000002903994I2D: score=1 STRING: ENSP00000290399
    VAV2P527353, ENSP000003609164I2D: score=1 STRING: ENSP00000360916
    UBE2L3P680363, ENSP000003442594I2D: score=4 STRING: ENSP00000344259
    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:0006511ubiquitin-dependent protein catabolic process TAS10521492
    GO:0016567protein ubiquitination IDA14623119
    GO:0019221cytokine-mediated signaling pathway TAS--

    ARIH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 ARIH1 (ARI1)

    Search CenterWatch for drugs/clinical trials and news about ARIH1 / ARI1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARIH1 gene: 
    NM_005744.3  

    Unigene Cluster for ARIH1:

    Ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)
    Hs.268787  [show with all ESTs]
    Unigene Representative Sequence: NM_005744
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379887(uc002aut.4) ENST00000570085 ENST00000564062 ENST00000567762
    ENST00000561987 ENST00000565950 ENST00000561770 ENST00000566063 ENST00000562891
    ENST00000563310
    miRNA
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    8/46 QIAGEN miScript miRNA Assays for microRNAs that regulate ARIH1 (see all 46):
    hsa-miR-642a hsa-miR-429 hsa-miR-548k hsa-let-7a-2* hsa-miR-219-5p hsa-miR-186 hsa-miR-3909 hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidARIH1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARIH1
    Clone
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    GenScript: all cDNA clones in your preferred vector: ARIH1 (NM_005744)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARIH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARIH1
    Sirion Biotech Customized lentivirus for stable overexpression of ARIH1 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARIH1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARIH1

    Additional mRNA sequence: 

    AB014774.1 AB209432.1 AF072832.1 AJ009771.1 AJ130976.1 AJ243190.1 AK000336.1 AK312715.1 
    AL117650.1 BC051877.1 

    14 DOTS entries:

    DT.444399  DT.100814845  DT.100684898  DT.40121401  DT.92443023  DT.95276343  DT.100821516  DT.95308543 
    DT.91699068  DT.95276339  DT.95276340  DT.95276345  DT.92443030  DT.97769697 

    24/374 AceView cDNA sequences (see all 374):

    AA789122 Z41271 BM353676 BF003095 BF055500 AI341950 BE326348 AW130521 
    AA714795 AW237235 BG939691 AJ243190 AA935881 AA290664 CA430811 BP371185 
    AA236511 BM721388 AL118576 AI803507 AL117650 CK821549 AA883811 AA412122 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ARIH1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b
    SP1:                                            -                 -                       -                 -                           
    SP2:                                                                                      -                                             
    SP3:                                                                                                        -                           
    SP4:                                                                                                                                    


    ECgene alternative splicing isoforms for ARIH1

    (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

    ARIH1 expression in normal human tissues (normalized intensities)      ARIH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTAGGAACT
    ARIH1 Expression
    About this image


    ARIH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             bone marrow cd34+   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   

    See ARIH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARIH1

    SOURCE GeneReport for Unigene cluster: Hs.268787

    UniProtKB/Swiss-Prot: ARI1_HUMAN, Q9Y4X5
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including ARIH1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARIH1

    (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 animals and fungi.

    Orthologs for ARIH1 gene from 8/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arih11 , 5 ariadne ubiquitin-conjugating enzyme E2 binding protein more1, 5 95.74(n)1
    99.46(a)1
      9 (32.01 cM)5
    238061  NM_019927.21  NP_064311.21 
     593882585 
    chicken
    (Gallus gallus)
    Aves ARIH11 ariadne homolog, ubiquitin-conjugating enzyme E2 binding more 90.83(n)
    100(a)
      415319  NM_001030387.1  NP_001025558.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARIH16
    ariadne homolog, ubiquitin-conjugating enzyme E2 b...
    96(a)
    1 ↔ 1
    GL343872.1(78162-97020)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.166412 Xenopus laevis transcribed sequence with strong similarity more 83.08(n)    BU899532.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa18d012 wufa18d01 81.25(n)   327005  BC057523.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ari-11 , 3 ubiquitin-protein ligase3
    ariadne1
    70(a)
    (best of 2)3
    65.72(n)1
    70.81(a)1
      1 16F73
    327961  NM_078675.31  NP_523399.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C27A12.83
    ari-11
    Protein ARI-11 55(a)
    (best of 3)3
    57.94(n)1
    56.66(a)1
      I(6066989-6069088)3
    1722841  NM_059348.41  NP_491749.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YKR017C)4 Putative protein of unknown function; contains a RING more   --   11(473349-471694) 853887  NP_012942.1 


    ENSEMBL Gene Tree for ARIH1 (if available)
    TreeFam Gene Tree for ARIH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARIH1 gene
    ANKIB12  ARIH22  
    18/62 SIMAP similar genes for ARIH1 using alignment to 4 protein entries:     ARI1_HUMAN (see all proteins) (see all similar genes):
    ARL6IP5    KIAA1651    ADCK1    TNNT1    pp12301    AARSD1
    EEF1E1    IDNK    TBCB    VPS33A    FLJ00047    KIAA0101
    ZNF257    CDK10    COQ5    DYNC2LI1    EIF3K    NDC80

    ARIH1 for paralogs           About GeneDecksing



    (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) 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

    10/1985 SNPs in ARIH1 are shown (see all 1985)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs347768181,2
    C--49695240(+) AATAA-/T/TT  
            
    TTTTT
    1 -- int10--------
    rs798101741,2
    F--72764680(+) GAAAAG/CAAAGG 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs2013201851,2
    --72764686(+) AAGGT-/GAGGC 
            
    GAGGC
    1 -- us2k10--------
    rs1813045411,2
    --72764689(+) GGTGAC/GGCAAA 1 -- us2k10--------
    rs1855642191,2
    --72764711(+) TACTGA/CCGAGT 1 -- us2k10--------
    rs285755041,2
    C--72764817(+) TAGAAT/CTGCTA 1 -- us2k1 tfbs32Minor allele frequency- C:0.05WA 120
    rs1463717661,2
    --72764949(+) CTGGCA/CAATAT 1 -- us2k10--------
    rs1384396681,2
    C--72765005(+) GGTGGC/TATGCG 1 -- us2k10--------
    rs2001389181,2
    C--72765047(+) AGGAG-/AAATCG 1 -- us2k10--------
    rs1429428801,2
    --72765191(+) TGAGGC/TTAAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARIH1 (72766667 - 72879692 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ARIH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv483057CNV Loss15286789
    nsv469704CNV Loss16826518
    nsv428307CNV Gain18775914
    nsv521972CNV Gain19592680
    nsv827384CNV Gain20364138
    dgv755e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): ARIH1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ARIH1
    DNA2.0 Custom Variant and Variant Library Synthesis for ARIH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605624    OMIM disorders: --

    3 diseases for ARIH1:    About MalaCards
    bovine spongiform encephalopathy    pancreatic cancer    pancreatitis


    ARIH1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARIH1

    Export disorders for ARIH1 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 ARIH1 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with ARIH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ubiquitin-conjugating enzymes UbcH7 and UbcH8 interact with RING finger/IBR motif-containing domains of HHARI and H7-AP1. (PubMed id 10521492)1, 2, 3 Moynihan T.P.... Robinson P.A. (1999)
    2. Features of the parkin/ariadne-like ubiquitin ligase, HHARI, that regulate its interaction with the ubiquitin-conjugating enzyme, Ubch7. (PubMed id 11278816)1, 2, 9 Ardley H.C.... Robinson P.A. (2001)
    3. Characterisation of the human and mouse orthologues of the Drosophila ariadne gene. (PubMed id 11124525)1, 2, 9 Tan N.G....Robinson P.A. (2000)
    4. Ariadne-1: a vital Drosophila gene is required in development and defines a new conserved family of ring-finger proteins. (PubMed id 10880484)1, 2, 9 Aguilera M.... Ferrus A. (2000)
    5. UBCH7 reactivity profile reveals parkin and HHARI to be RING/HECT hybrids. (PubMed id 21532592)1, 2 Wenzel D.M.... Klevit R.E. (2011)
    6. 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. (2004)
    7. Structure of the C-terminal RING finger from a RING-IBR-RING/TRIAD motif reveals a novel zinc-binding domain distinct from a RING. (PubMed id 15236971)1, 2 Capili A.D....Borden K.L. (2004)
    8. Human homologue of ariadne promotes the ubiquitylation of translation initiation factor 4E homologous protein, 4EHP. (PubMed id 14623119)1, 2 Tan N.G....Robinson P.A. (2003)
    9. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (2001)
    10. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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: 25820 HGNC: 689 AceView: ARIH1 Ensembl:ENSG00000166233 euGenes: HUgn25820
    ECgene: ARIH1 H-InvDB: ARIH1

    (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 ARIH1 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 ARIH1 gene:
    Search GeneIP for patents involving ARIH1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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