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

MKRN1 Gene

protein-coding   GIFtS: 60
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)
About This Section

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

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, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. GO annotations related to this gene include molecular_function and nucleic acid binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MKRN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • UniProtKB: Auto-ubiquitinated; which leads to proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHC7

  • MKRN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MKRN1 Protein Expression
    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
    Human Recombinant Protein Products for MKRN1: 
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    Novus Biologicals MKRN1 Proteins
    Novus Biologicals MKRN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MKRN1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    MKRN1 for ontologies           About GeneDecksing



    MKRN1 Antibody Products: 
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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)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    5 InterPro protein domains:
     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,
    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: 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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003676nucleic acid binding ----
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI19536131
    GO:0008270zinc ion binding 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 - Custom generated mouse model solutions for MKRN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-mir-373 (MIRT002511)

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    8/42 QIAGEN miScript miRNA 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
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    GenScript: all cDNA clones in your preferred vector (see all 2): MKRN1 (NM_013446)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MKRN1


    (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 MKRN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for MKRN1
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


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


    MKRN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MKRN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/11 Interacting proteins for MKRN1 (Q9UHC72, 3 ENSP000002559774) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046372, 3, ENSP000002693054MINT-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 (GO ID links to tree view):    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 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 MKRN1

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 MKRN1 gene (2 alternative transcripts): 
    NM_001145125.1  NM_013446.3  

    Unigene Cluster for MKRN1:

    Makorin ring finger protein 1
    Hs.744883  [show with all ESTs]
    Unigene Representative Sequence: AK127030
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MKRN1
    8/42 QIAGEN miScript miRNA 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
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MKRN1
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    Additional mRNA sequence: 

    AF117233.1 AF192784.1 AK024987.1 AK027137.1 AK127030.1 AK297361.1 AK315552.1 AL136812.1 
    AM236048.1 BC012398.2 BC025955.1 BC037400.1 BC051821.1 BC064838.1 BC127216.1 

    24/35 DOTS entries (see all 35):

    DT.453625  DT.100827849  DT.100827847  DT.100827850  DT.100827858  DT.92443839  DT.100030722  DT.100827857 
    DT.121067645  DT.92443863  DT.95093357  DT.100759782  DT.100030723  DT.100827856  DT.121067757  DT.100800096 
    DT.100827855  DT.100827860  DT.121067657  DT.121067671  DT.121067684  DT.121067773  DT.121067778  DT.40247179 

    24/538 AceView cDNA sequences (see all 538):

    AW511152 AI078830 CB242292 AA401051 BU631217 AA314804 AA653791 AA861734 
    AA885664 CR605455 AA883787 AL136812 AI803653 AA913877 BM919642 AA913420 
    AI298961 AA400999 BQ017966 BM840308 AW768592 T32370 BP334842 CB120238 

    GeneLoc Exon Structure

    5/12 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™, 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

    MKRN1 expression in normal human tissues (normalized intensities)      MKRN1 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass

    See MKRN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MKRN1

    SOURCE GeneReport for Unigene cluster: Hs.744883

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

        SABiosciences Expression via Pathway-Focused PCR Array including MKRN1: 
              Ubiquitin Ligases in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MKRN1 gene from 7/14 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 92.58(n)1
    93.97(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 77.92(n)
    78.52(a)
      395500  NM_204742.1  NP_990073.1 
    lizard
    (Anolis carolinensis)
    Reptilia MKRN16
    makorin ring finger protein 1
    77(a)
    1 ↔ 1
    5(15411205-15441612)
    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   -- 50(a)
    (best of 4)
      75D7   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y55F3AM.61 Protein Y55F3AM.6 46.24(n)
    38.99(a)
      176918  NM_001028339.2  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)
    About This Section
    Paralogs for MKRN1 gene
    MKRN32  MKRN22  
    18/34 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


    5/9 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) 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

    10/748 SNPs in MKRN1 are shown (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

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    (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: 607754    OMIM disorders: --

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


    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)
    About This Section

    PubMed articles for MKRN1 gene, integrated from 9 sources (see all 26):
    (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. (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. (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. (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. (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. (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. (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. (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. (2001)
    9. Acceleration of gastric tumorigenesis through MKRN1-me diated posttranslational regulation of p14ARF. (PubMed id 23104211)1 Ko A....Song J. (2012)
    10. Ubiquitination and degradation of the FADD adaptor pro tein regulate death receptor-mediated apoptosis and necroptosis. (PubMed id 22864571)1 Lee E.W....Song J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23608 HGNC: 7112 AceView: MKRN1 Ensembl:ENSG00000133606 euGenes: HUgn23608
    ECgene: MKRN1 H-InvDB: MKRN1

    (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 MKRN1 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 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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