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MUL1 Gene

protein-coding   GIFtS: 51
GCID: GC01M020825

Mitochondrial E3 Ubiquitin Protein Ligase 1

(Previous name: chromosome 1 open reading frame 166)
(Previous symbol: C1orf166)
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(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
Mitochondrial E3 Ubiquitin Protein Ligase 11 2     MAPL2 3
C1orf1661 2 3 5     RNF2182 3
Growth Inhibition And Death E3 Ligase1 2 3     E3 SUMO-Protein Ligase MUL12 3
RING Finger Protein 2181 2 3     E3 Ubiquitin-Protein Ligase MUL12 3
MULAN2 3 5     Chromosome 1 Open Reading Frame 1661
Mitochondria-Anchored Protein Ligase1 2     E3 Ubiquitin Ligase2
Mitochondrial Ubiquitin Ligase Activator Of NFKB 11 2     Mitochondrial E3 Ubiquitin Ligase 12
Mitochondrial-Anchored Protein Ligase2 3     Mitochondrial Ubiquitin Ligase Activator Of NF-KB2
Putative NF-Kappa-B-Activating Protein 2662 3     EC 6.3.2.-3
GIDE2 3     EC 6.3.28

External Ids:    HGNC: 257621   Entrez Gene: 795942   Ensembl: ENSG000000904327   OMIM: 6120375   UniProtKB: Q969V53   

Export aliases for MUL1 gene to outside databases

Previous GC identifers: GC01M020699 GC01M019072


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MUL1 Gene:
MUL1 (mitochondrial E3 ubiquitin protein ligase 1) is a protein-coding gene. GO annotations related to this gene include identical protein binding and signal transducer activity.

UniProtKB/Swiss-Prot: MUL1_HUMAN, Q969V5
Function: Exhibits weak E3 ubiquitin-protein ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2
ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted
substrates. Can ubiquinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and
seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation.
Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations. Plays a role in the control
of mitochondrial morphology. Promotes mitochondrial fragmentation and influences mitochondrial localization. The
function may implicate its abilty to sumoylate DNM1L. Inhibits cell growth. When overexpressed, activates JNK
through MAP3K7/TAK1 and induces caspase-dependent apoptosis. Involved in the modulation of innate immune defense
against viruses by inhibiting DDX58-dependent antiviral response. Can mediate DDX58 sumoylation and disrupt its
polyubiquitination




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the MUL1 gene promoter:
         AML1a   HSF1 (long)   CUTL1   C/EBPalpha   c-Ets-1   RORalpha1   FAC1   HSF1short   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMUL1 promoter sequence
   Search Chromatin IP Primers for MUL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUL1


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

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

MUL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M020825:  view genomic region     (about GC identifiers)

Start:
20,825,941 bp from pter      End:
20,834,674 bp from pter
Size:
8,734 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MUL1_HUMAN, Q969V5 (See protein sequence)
Recommended Name: Mitochondrial ubiquitin ligase activator of NFKB 1  
Size: 352 amino acids; 39800 Da
Subunit: Homooligomer. Interacts with MAP3K7/TAK1. Interacts with UBC9. Interacts with MAVS
Secondary accessions: B5M497 Q7Z431 Q9H9B5

Explore the universe of human proteins at neXtProt for MUL1: NX_Q969V5

Explore proteomics data for MUL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys273
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for MUL1 (Q969V5)
     KSCVFLECGHVCSC  PGKCVPYAVIEGAV  EHKMVWNRTTHLWND 


    See MUL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078820.2  
    ENSEMBL proteins: 
     ENSP00000264198  

    MUL1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for MUL1
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    Novus Biologicals MUL1 Protein
    Novus Biologicals MUL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MUL1

     
    Search eBioscience for Proteins for MUL1 

     
    antibodies-online proteins for MUL1 (2 products) 

     
    antibodies-online peptides for MUL1

    MUL1 Antibody Products:

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    antibodies-online antibodies for MUL1 (41 products) 

    MUL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MUL1
    Cloud-Clone Corp. CLIAs for MUL1
    Search eBioscience for ELISAs for MUL1 
    antibodies-online kits for MUL1 (4 products) 


    (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

    3 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR022170 MULAN

    Graphical View of Domain Structure for InterPro Entry Q969V5

    ProtoNet protein and cluster: Q969V5

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: MUL1_HUMAN, Q969V5
    Domain: The zinc finger domain is required for E3 ligase activity
    Similarity: Contains 1 RING-type zinc finger


    Find genes that share domains with MUL1           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: MUL1_HUMAN, Q969V5
    Function: Exhibits weak E3 ubiquitin-protein ligase activity. E3 ubiquitin ligases accept ubiquitin from an E2
    ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted
    substrates. Can ubiquinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and
    seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteosomal degradation.
    Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations. Plays a role in the control
    of mitochondrial morphology. Promotes mitochondrial fragmentation and influences mitochondrial localization. The
    function may implicate its abilty to sumoylate DNM1L. Inhibits cell growth. When overexpressed, activates JNK
    through MAP3K7/TAK1 and induces caspase-dependent apoptosis. Involved in the modulation of innate immune defense
    against viruses by inhibiting DDX58-dependent antiviral response. Can mediate DDX58 sumoylation and disrupt its
    polyubiquitination

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA18213395
    GO:0004871signal transducer activity IMP12761501
    GO:0005515protein binding IPI16189514
    GO:0008270zinc ion binding IEA--
    GO:0019789SUMO ligase activity IDA19407830
         
    Find genes that share ontologies with MUL1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MUL1:
     Big cells  Increased cell death HMECs cel 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MUL1

    miRNA
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    Block miRNA regulation of human, mouse, rat MUL1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MUL1:
    hsa-miR-3654 hsa-miR-125a-5p hsa-miR-125b hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidMUL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MUL1
    Predesigned siRNA for gene silencing in human, mouse, rat MUL1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MUL1

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    GenScript: all cDNA clones in your preferred vector: MUL1 (NM_024544)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUL1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MUL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MUL1_HUMAN, Q969V5: Mitochondrion outer membrane; Multi-pass membrane protein. Peroxisome. Note=Transported in
    mitochondrion-derived vesicles from the mitochondrion to the peroxisome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    peroxisome5
    nucleus4
    cytosol3
    extracellular2
    lysosome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005777peroxisome IDA18207745

    Find genes that share ontologies with MUL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: MUL1_HUMAN, Q969V5
    Pathway: Protein modification; protein ubiquitination
    Pathway: Protein modification; protein sumoylation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MUL1: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MUL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for MUL1 (Q969V51, 2, 3 ENSP000002641984) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPBP2Q926241, 2, 3, ENSP000000831824EBI-744120,EBI-743771 MINT-66451 I2D: score=5 STRING: ENSP00000083182
    UBE2IP632792, 3, ENSP000003248974MINT-7218842 MINT-7218879 I2D: score=1 STRING: ENSP00000324897
    UBCP0CG482, 3, ENSP000003448184MINT-7218815 I2D: score=1 STRING: ENSP00000344818
    SUMO1P631652, 3, ENSP000003760764MINT-7218800 I2D: score=1 STRING: ENSP00000376076
    UBE2D2P628373, ENSP000003817174I2D: score=2 STRING: ENSP00000381717
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission IMP18207745
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA18591963
    GO:0007005mitochondrion organization ----
    GO:0007257activation of JUN kinase activity IDA18591963
    GO:0010637negative regulation of mitochondrial fusion IDA19407830

    Find genes that share ontologies with MUL1           About GenesLikeMe



    (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 MUL1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MUL1 gene: 
    NM_024544.2  

    Unigene Cluster for MUL1:

    Mitochondrial E3 ubiquitin protein ligase 1
    Hs.10101  [show with all ESTs]
    Unigene Representative Sequence: NM_024544
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000264198(uc001bdi.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MUL1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MUL1:
    hsa-miR-3654 hsa-miR-125a-5p hsa-miR-125b hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidMUL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MUL1
    Predesigned siRNA for gene silencing in human, mouse, rat MUL1
    Clone
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    OriGene clones in human, mouse for MUL1 (see all 7)
    OriGene ORF clones in mouse, rat for MUL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MUL1 (NM_024544)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUL1
    Primer
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    OriGene qPCR primer pairs and template standards for MUL1
    OriGene qSTAR qPCR primer pairs in human, mouse for MUL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MUL1
      QuantiTect SYBR Green Assays in human, mouse, rat MUL1
      QuantiFast Probe-based Assays in human, mouse, rat MUL1

    Additional mRNA sequence: 

    AB097015.1 AK022937.1 AK293430.1 AK303820.1 AL833889.1 BC010101.2 BC014010.1 EU935008.1 

    14 DOTS entries:

    DT.92439625  DT.446739  DT.121421928  DT.95104222  DT.100720886  DT.121421930  DT.95303871  DT.121421922 
    DT.100827598  DT.121421938  DT.121421942  DT.121421915  DT.86855225  DT.92439636 

    Selected AceView cDNA sequences (see all 235):

    BM904678 BX342894 BX334448 BM791470 F05090 CA446790 BI821460 CA430621 
    BX090428 BF340523 AU156137 BM991865 BC010101 CA395474 AL833889 BM970653 
    AU125147 C04905 AI335975 AW083493 BG680346 CR593496 AI278245 AI082044 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MUL1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
    SP1:                                -               
    SP2:              -                 -               
    SP3:              -                                 


    ECgene alternative splicing isoforms for MUL1

    (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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    MUL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCAACCAA
    MUL1 Expression
    About this image


    MUL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
    MUL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.10101

    UniProtKB/Swiss-Prot: MUL1_HUMAN, Q969V5
    Tissue specificity: Widely expressed with highest levels in the heart, skeletal muscle, placenta, kidney and
    liver. Barely detectable in colon and thymus

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MUL1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MUL1
    OriGene qSTAR qPCR primer pairs in human, mouse for MUL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MUL1
    QuantiTect SYBR Green Assays in human, mouse, rat MUL1
    QuantiFast Probe-based Assays in human, mouse, rat MUL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUL1

    (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 eukaryotes.

    Orthologs for MUL1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mul11 , 5 mitochondrial ubiquitin ligase activator of NFKB 11, 5 86.93(n)1
    89.77(a)1
      4 (70.28 cM)5
    683501  NM_026689.31  NP_080965.21 
     1384346715 
    chicken
    (Gallus gallus)
    Aves MUL11 mitochondrial E3 ubiquitin protein ligase 1 73.39(n)
    71.87(a)
      426969  XM_424579.4  XP_424579.4 
    lizard
    (Anolis carolinensis)
    Reptilia MUL16
    mitochondrial E3 ubiquitin protein ligase 1
    39(a)
    1 ↔ 1
    GL343245.1(427907-432750)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mul11 mitochondrial E3 ubiquitin protein ligase 1 67.05(n)
    63.07(a)
      100487584  XM_004913324.1  XP_004913381.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mul1b1 mitochondrial E3 ubiquitin ligase 1b 62.5(n)
    61.65(a)
      100004181  NM_001098760.1  NP_001092230.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mul16
    Mitochondrial E3 ubiquitin protein ligase 1 homolo...
    29(a)
    1 ↔ 1
    3L(4021457-4023058)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G639001 AT1G63900 40.23(n)
    31.66(a)
      842693  NM_105064.3  NP_176574.2 
    rice
    (Oryza sativa)
    Liliopsida Os07g06478001 Os07g0647800 41.15(n)
    30.04(a)
      4344112  NM_001067007.1  NP_001060472.1 


    ENSEMBL Gene Tree for MUL1 (if available)
    TreeFam Gene Tree for MUL1 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MUL1 (see all 319)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1392225041,2
    C--20825453(+) GTACC-/CTCTCTG 1 -- int10--------
    rs1467520351,2
    --20825492(+) ACACCA/GGGACT 1 -- int10--------
    rs1877462351,2
    --20825764(+) ATCCCA/GGCCGG 1 -- int10--------
    rs1127856431,2
    C--20825836(+) GGCCTC/-AAACT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs115859671,2
    C,F,H--20825894(+) GACACT/GTAGGC 1 -- int113Minor allele frequency- G:0.07NS EA NA WA CSA 1218
    rs1115999861,2
    C--20825991(+) ATCATA/GCTAGT 1 -- ut312Minor allele frequency- G:0.03CSA WA 120
    rs1922594341,2
    --20825992(+) TCATAC/GTAGTG 1 -- ut310--------
    rs1842593361,2
    --20826056(+) ACATTC/TAGAGG 1 -- ut310--------
    rs412650551,2
    F--20826070(+) AAAAGG/AGCAAT 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs762797881,2
    C--20826194(+) GGGAGG/TGGGTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MUL1 (20825941 - 20834674 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MUL1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MUL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MUL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612037    OMIM disorders: --


    Find genes that share disorders with MUL1           About GenesLikeMe

    Genetic Association Database (GAD): MUL1
    Human Genome Epidemiology (HuGE) Navigator: MUL1 (1 document)

    Export disorders for MUL1 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 MUL1 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with MUL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. GIDE is a mitochondrial E3 ubiquitin ligase that induces apoptosis and slows growth. (PubMed id 18591963)1, 2, 3 Zhang B.... Shu H.-B. (Cell Res. 2008)
    2. Genome-wide and functional annotation of human E3 ubiquitin ligases identifies MULAN, a mitochondrial E3 that regulates the organelle's dynamics and signaling. (PubMed id 18213395)1, 2, 3 Li W.... Joazeiro C.A.P. (PLoS ONE 2008)
    3. Cargo-selected transport from the mitochondria to peroxisomes is mediated by vesicular carriers. (PubMed id 18207745)1, 2, 3 Neuspiel M.... McBride H.M. (Curr. Biol. 2008)
    4. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PubMed id 12761501)1, 2, 3 Matsuda A....Sugano S. (Oncogene 2003)
    5. Mitochondrially localised MUL1 is a novel modulator of antiviral signaling. (PubMed id 23399697)1, 2 Jenkins K....Mansell A. (Immunol. Cell Biol. 2013)
    6. Akt is negatively regulated by the MULAN E3 ligase. (PubMed id 22410793)1, 2 Bae S....An S. (Cell Res. 2012)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. MAPL is a new mitochondrial SUMO E3 ligase that regulates mitochondrial fission. (PubMed id 19407830)1, 2 Braschi E.... McBride H.M. (EMBO Rep. 2009)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    10. 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)

    (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: 79594 HGNC: 25762 AceView: FLJ12875 Ensembl:ENSG00000090432 euGenes: HUgn79594
    ECgene: MUL1 H-InvDB: MUL1

    (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 MUL1 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 MUL1 gene:
    Search GeneIP for patents involving MUL1

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



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