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MKRN1 Gene

protein-coding   GIFtS: 58
GCID: GC07M140152

Makorin Ring Finger Protein 1

  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)
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Aliases
Makorin Ring Finger Protein 11 2
RNF612 3
RING Finger Protein 612 3
E3 Ubiquitin-Protein Ligase Makorin-12
EC 6.3.2.-3

External Ids:    HGNC: 71121   Entrez Gene: 236082   Ensembl: ENSG000001336067   OMIM: 6077545   UniProtKB: Q9UHC73   

Export aliases for MKRN1 gene to outside databases

Previous GC identifers: GC07M138423 GC07M139483 GC07M139560 GC07M139606 GC07M139799


(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 MKRN1 Gene:
The Makorin ring finger protein-1 gene (MKRN1) is a highly transcribed, intron-containing source for a family of
intronless mammalian genes encoding a novel class of zinc finger proteins. Phylogenetic analyses indicate that
the MKRN1 gene is the ancestral founder of this gene family (Gray et al., 2000 (PubMed 10843807)).(supplied by
OMIM, Mar 2008)

GeneCards Summary for MKRN1 Gene:
MKRN1 (makorin ring finger protein 1) is a protein-coding gene. Diseases associated with MKRN1 include west nile virus, and osteogenesis imperfecta. GO annotations related to this gene include chromatin binding and ligase activity. An important paralog of this gene is MKRN3.

UniProtKB/Swiss-Prot: MKRN1_HUMAN, Q9UHC7
Function: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under
normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative
regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the MKRN1 gene promoter:
         AP-1   ATF-2   HNF-4alpha2   Meis-1b   GATA-1   PPAR-gamma1   c-Jun   PPAR-gamma2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): MKRN1 promoter sequence
   Search Chromatin IP Primers for MKRN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MKRN1


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

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

MKRN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MKRN1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M140152:  view genomic region     (about GC identifiers)

Start:
140,152,840 bp from pter      End:
140,179,369 bp from pter
Size:
26,530 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 139,481,663-139,517,562     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MKRN1_HUMAN, Q9UHC7 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase makorin-1  
Size: 482 amino acids; 53349 Da
Subunit: Interacts with p53/TP53 and CDKN1A. Interacts with TERT, modulating telomere length homeostasis
Secondary accessions: A4D1T7 B3KXB4 Q256Y7 Q59G11 Q6GSF1 Q9H0G0 Q9UEZ7 Q9UHW2
Alternative splicing: 4 isoforms:  Q9UHC7-1   Q9UHC7-2   Q9UHC7-3   Q9UHC7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MKRN1: NX_Q9UHC7

Explore proteomics data for MKRN1 at MOPED

Post-translational modifications: 

  • Auto-ubiquitinated; which leads to proteasomal degradation1
  • Ubiquitination2 at Lys113, Lys265, Lys277, Lys368, Lys389
  • Modification sites at PhosphoSitePlus

  • See MKRN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138597.1  NP_038474.2  

    ENSEMBL proteins: 
     ENSP00000255977   ENSP00000417640   ENSP00000417863   ENSP00000417346   ENSP00000419894  
     ENSP00000417907   ENSP00000416369   ENSP00000418864   ENSP00000418588   ENSP00000419843  
     ENSP00000419695   ENSP00000418620   ENSP00000419259   ENSP00000439823  
    Reactome Protein details: Q9UHC7

    MKRN1 Human Recombinant Protein Products:

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    Novus Biologicals MKRN1 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MKRN1

    MKRN1 Antibody Products:

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    Abcam antibodies for MKRN1
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    ThermoFisher Antibodies for MKRN1
    LSBio Antibodies in human, mouse, rat for MKRN1

    MKRN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MKRN1
    Cloud-Clone Corp. CLIAs for MKRN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    Selected InterPro protein domains (see all 6):
     IPR000571 Znf_CCCH
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR017907 Znf_RING_CS
     IPR026290 Makorin-related

    Graphical View of Domain Structure for InterPro Entry Q9UHC7

    ProtoNet protein and cluster: Q9UHC7

    2 Blocks protein domains:
    IPB000571 Zn-finger
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: MKRN1_HUMAN, Q9UHC7
    Similarity: Contains 4 C3H1-type zinc fingers
    Similarity: Contains 1 RING-type zinc finger


    MKRN1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MKRN1_HUMAN, Q9UHC7
    Function: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
    These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under
    normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative
    regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription
    Induction: Frequently induced in esophageal squamous cell carcinoma (SCC) tissues

         Genatlas biochemistry entry for MKRN1:
    makorin,ring finger protein,1,mediating ubiquitin-conjugating enzyme (E2)-dependent ubiquitination

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI19536131
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
         
    MKRN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MKRN1:
     Wnt reporter downregulated 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mkrn1):
     normal 

    MKRN1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MKRN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MKRN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MKRN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MKRN1

    miRNA
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    miRTarBase miRNAs that target MKRN1:
    hsa-let-7c-5p (MIRT051838), hsa-mir-375 (MIRT019801), hsa-mir-373-3p (MIRT002511), hsa-mir-197-3p (MIRT048130), hsa-mir-574-3p (MIRT040519)

    Block miRNA regulation of human, mouse, rat MKRN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MKRN1 (see all 42):
    hsa-miR-3130-5p hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-106a hsa-miR-199a-3p hsa-miR-578 hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidMKRN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MKRN1
    Predesigned siRNA for gene silencing in human, mouse, rat MKRN1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MKRN1

    Clone
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    OriGene clones in human, mouse for MKRN1 (see all 13)
    OriGene ORF clones in mouse, rat for MKRN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MKRN1 (NM_013446)
    Sino Biological Human cDNA Clone for MKRN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKRN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKRN1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MKRN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MKRN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKRN1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    MKRN1 for ontologies           About GeneDecksing


    (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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    SuperPaths for MKRN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for MKRN1
        Antigen processing: Ubiquitination & Proteasome degradation


    UniProtKB/Swiss-Prot: MKRN1_HUMAN, Q9UHC7
    Pathway: Protein modification; protein ubiquitination


    MKRN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MKRN1: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MKRN1

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

    Selected Interacting proteins for MKRN1 (Q9UHC71, 2, 3 ENSP000002559774) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 2, 3, ENSP000002693054EBI-373524,EBI-366083 MINT-7298755 MINT-7298834 MINT-7298907 MINT-7298873 MINT-7298815 MINT-7298791 MINT-7298847 MINT-7298737 I2D: score=1 STRING: ENSP00000269305
    UBE2WQ96B022, 3, ENSP000003974534MINT-8276343 I2D: score=2 STRING: ENSP00000397453
    DUSP23Q9BVJ72, 3MINT-8254688 I2D: score=2 
    MAP1LC3BQ9GZQ82, 3MINT-8259682 I2D: score=2 
    UBE2D3P610772, 3MINT-8276119 I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0016567protein ubiquitination IEA--

    MKRN1 for ontologies           About GeneDecksing



    (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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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MKRN1



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MKRN1 gene (2 alternative transcripts): 
    NM_001145125.1  NM_013446.3  

    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000255977(uc003vvs.2 uc003vvt.2 uc011krd.1) ENST00000475010
    ENST00000495305 ENST00000474576 ENST00000463142 ENST00000468447 ENST00000480552
    ENST00000496169(uc003vvu.4) ENST00000443720(uc003vvv.4) ENST00000471104
    ENST00000467513 ENST00000494939 ENST00000498535 ENST00000473444 ENST00000475180
    ENST00000481705 ENST00000437223
    miRNA
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    Block miRNA regulation of human, mouse, rat MKRN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MKRN1 (see all 42):
    hsa-miR-3130-5p hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-106a hsa-miR-199a-3p hsa-miR-578 hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidMKRN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MKRN1
    Predesigned siRNA for gene silencing in human, mouse, rat MKRN1
    Clone
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    OriGene clones in human, mouse for MKRN1 (see all 13)
    OriGene ORF clones in mouse, rat for MKRN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MKRN1 (NM_013446)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MKRN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MKRN1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MKRN1
    OriGene qSTAR qPCR primer pairs in human, mouse for MKRN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKRN1
      QuantiTect SYBR Green Assays in human, mouse, rat MKRN1
      QuantiFast Probe-based Assays in human, mouse, rat MKRN1

    Selected AceView cDNA sequences (see all 538):

    BM919642 AA812760 CB158345 AA130243 AA669451 BX344623 BM840308 AA913420 
    CB269182 NM_013446 BM806585 CR601180 AA704740 AI611011 N35233 AA608941 
    BM666746 BC064838 AI032903 N68065 AI123735 BM982873 AA913877 AA830058 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MKRN1 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^
    SP1:              -     -     -     -     -     -     -     -     -                                                     -           -     -                     
    SP2:                                                  -     -     -                                                     -           -     -                     
    SP3:              -     -     -     -     -     -     -     -     -                                                     -           -     -                     
    SP4:              -     -     -     -     -     -     -     -     -                                                     -                                       
    SP5:                                                              -                                                                                             

    ExUns: 14a · 14b · 14c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for MKRN1

    (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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    MKRN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGAGTGT
    MKRN1 Expression
    About this image


    MKRN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Colon (Gastrointestinal Tract)
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
    MKRN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MKRN1 Protein Expression

    UniProtKB/Swiss-Prot: MKRN1_HUMAN, Q9UHC7
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including MKRN1: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for MKRN1
    OriGene qSTAR qPCR primer pairs in human, mouse for MKRN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MKRN1
    QuantiTect SYBR Green Assays in human, mouse, rat MKRN1
    QuantiFast Probe-based Assays in human, mouse, rat MKRN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKRN1

    (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 animals.

    Orthologs for MKRN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mkrn11 , 5 makorin, ring finger protein, 11, 5 92.68(n)1
    94.68(a)1
      6 (18.18 cM)5
    544841  NM_018810.21  NP_061280.21 
     393978045 
    chicken
    (Gallus gallus)
    Aves MKRN11 makorin ring finger protein 1 80.61(n)
    82.65(a)
      395500  NM_204742.1  NP_990073.1 
    lizard
    (Anolis carolinensis)
    Reptilia MKRN16
    makorin ring finger protein 1
    30(a)
    1 ↔ 1
    4(120443452-120464031)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.168312 Xenopus laevis transcribed sequence with moderate similarity more 82.12(n)    CA791815.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mkrn12 makorin, ring finger protein, 1 76.39(n)   170782  AF277173.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG124773
    CG53341
    CG53341 50(a)
    (best of 4)3
    54.72(n)1
    47.98(a)1
      75D73
    324021  NM_132741.11  NP_572969.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y55F3AM.61 Y55F3AM.6 46.22(n)
    40.26(a)
      176918  NM_001028339.3  NP_001023510.1 


    ENSEMBL Gene Tree for MKRN1 (if available)
    TreeFam Gene Tree for MKRN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MKRN1 gene
    MKRN32  MKRN22  
    Selected SIMAP similar genes for MKRN1 using alignment to 13 protein entries:     MKRN1_HUMAN (see all proteins) (see all similar genes):
    ZNF480    LGALS3    MKRN4P    LRRC36    CCPG1    MKRN9P
    ZNF738    C12orf23    SUN3    ATL2    QTRT1    THADA
    ZNHIT3    SENP7    CNOT2    KLHDC1    LAMA5    BUB1B

    MKRN1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for MKRN1 (see all 9)
    PGOHUM00000239537 PGOHUM00000262240 PGOHUM00000243987 PGOHUM00000247551 PGOHUM00000240389


    (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 MKRN1 (see all 748)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1129522071,2
    C--140152344(+) CCACCG/ACACCC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1472975461,2
    C--140152457(+) TTCTT-/ACTC  
            
    ACAAA
    1 -- int10--------
    rs734851451,2
    C--140152558(+) TCCCCC/TGTTAT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1511234761,2
    --140152559(+) CCCCCA/GTTATC 1 -- int10--------
    rs737352521,2
    C,F--140152598(+) GTGCAT/CGGTAG 1 -- int12Minor allele frequency- C:0.06WA 120
    rs1411047341,2
    --140152618(+) GCCAGA/TGCCTT 1 -- int10--------
    rs1931495171,2
    --140152645(+) CCAGCA/GTTAGT 1 -- int10--------
    rs1844319981,2
    --140152689(+) ACCCCA/GGCTAG 1 -- int10--------
    rs117608951,2
    C,F,H--140152722(+) ACACAC/AATTTC 1 -- int110Minor allele frequency- A:0.20NS EA WA NA CSA 655
    rs1469212201,2
    C--140152747(+) CTCCCA/GAATAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for MKRN1 (140152840 - 140179369 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MKRN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735242CNV Deletion23290073
    nsv5971CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MKRN1
    DNA2.0 Custom Variant and Variant Library Synthesis for MKRN1

    (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.)
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    OMIM gene information: 607754    OMIM disorders: --

    8 diseases for MKRN1:    
    About MalaCards
    west nile virus    osteogenesis imperfecta    esophageal squamous cell carcinoma    kidney disease
    polycystic kidney disease    esophagitis    squamous cell carcinoma    malaria


    MKRN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MKRN1
    Human Genome Epidemiology (HuGE) Navigator: MKRN1 (1 document)

    Export disorders for MKRN1 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 MKRN1 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with MKRN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system. (PubMed id 10843807)1, 2, 3, 9 Gray T.A.... Nicholls R.D. (Genomics 2000)
    2. Identification of Makorin 1 as a novel SEREX antigen of esophageal squamous cell carcinoma. (PubMed id 19604354)1, 2, 9 Shimada H.... Hiwasa T. (BMC Cancer 2009)
    3. Differential regulation of p53 and p21 by MKRN1 E3 ligase controls cell cycle arrest and apoptosis. (PubMed id 19536131)1, 2, 9 Lee E.-W.... Song J. (EMBO J. 2009)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Makorin RING finger protein 1 (MKRN1) has negative and positive effects on RNA polymerase II-dependent transcription. (PubMed id 16785614)1, 2 Omwancha J.... Shemshedini L. (Endocrine 2006)
    6. Ubiquitin ligase MKRN1 modulates telomere length homeostasis through a proteolysis of hTERT. (PubMed id 15805468)1, 2 Kim J.H....Chung I.K. (Genes Dev. 2005)
    7. 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)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Acceleration of gastric tumorigenesis through MKRN1-mediated posttranslational regulation of p14ARF. (PubMed id 23104211)1 Ko A....Song J. (J. Natl. Cancer Inst. 2012)

    (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: 23608 HGNC: 7112 AceView: MKRN1 Ensembl:ENSG00000133606 euGenes: HUgn23608
    ECgene: MKRN1 H-InvDB: MKRN1

    (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 MKRN1 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 MKRN1 gene:
    Search GeneIP for patents involving MKRN1

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



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