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MIB1 Gene

protein-coding   GIFtS: 61
GCID: GC18P019284

Mindbomb E3 Ubiquitin Protein Ligase 1

(Previous name: mindbomb homolog 1 (Drosophila))
  See MIB1-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
Mindbomb E3 Ubiquitin Protein Ligase 11 2     KIAA13233 5
DIP12 3 5     Mindbomb Homolog 1 (Drosophila)1
Zinc Finger ZZ Type With Ankyrin Repeat Domain Protein 22 3     ZZZ62
DIP-12 3     E3 Ubiquitin-Protein Ligase MIB12
ZZANK22 3     Ubiquitin Ligase Mind Bomb2
DAPK-Interacting Protein 12 3     EC 6.3.2.-3
LVNC72 5     Mind Bomb Homolog 13
MIB2 5     EC 6.3.28

External Ids:    HGNC: 210861   Entrez Gene: 575342   Ensembl: ENSG000001017527   OMIM: 6086775   UniProtKB: Q86YT63   

Export aliases for MIB1 gene to outside databases

Previous GC identifers: GC18P017574 GC18P017575 GC18P019321 GC18P016168


(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 MIB1 Gene:
This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3
ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors,
thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of
death-associated protein kinase 1 (DAPK1). (provided by RefSeq, Jun 2013)

GeneCards Summary for MIB1 Gene:
MIB1 (mindbomb E3 ubiquitin protein ligase 1) is a protein-coding gene. Diseases associated with MIB1 include left ventricular noncompaction 7, and left ventricular noncompaction 1, with or without congenital heart defects. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is ANKDD1A.

UniProtKB/Swiss-Prot: MIB1_HUMAN, Q86YT6
Function: E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of
Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular
domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent
proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced
apoptosis (By similarity). Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in
kinase activation

Gene Wiki entry for MIB1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the MIB1 gene promoter:
         Pax-5   p53   p300   YY1   c-Ets-1   STAT3   Msx-1   Pax-4a   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIB1 promoter sequence
   Search Chromatin IP Primers for MIB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIB1


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

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

MIB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIB1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P019284:  view genomic region     (about GC identifiers)

Start:
19,284,918 bp from pter      End:
19,450,918 bp from pter
Size:
166,001 bases      Orientation:
plus 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MIB1_HUMAN, Q86YT6 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase MIB1  
Size: 1006 amino acids; 110136 Da
Miscellaneous: In epilepsy brain tissue, levels of expression are increased in the cytoplasm and microsomal
fractions (endoplasmic reticulum)
Sequence caution: Sequence=AAH22403.1; Type=Erroneous initiation; Sequence=AAN18023.1; Type=Frameshift;
Positions=3; Sequence=BAC11439.1; Type=Erroneous initiation;
Secondary accessions: B0YJ38 Q2TB37 Q68D01 Q6YI51 Q8NBY0 Q8TCB5 Q8TCL7 Q9P2M3

Explore the universe of human proteins at neXtProt for MIB1: NX_Q86YT6

Explore proteomics data for MIB1 at MOPED

Post-translational modifications: 

  • Ubiquitinated. Possibly via autoubiquitination (By similarity)1
  • Ubiquitination2 at Lys28, Lys79, Lys202, Lys222, Lys313, Lys368, Lys399, Lys421, Lys437, Lys452,
                                 Lys485, Lys618, Lys691, Lys726, Lys735, Lys750, Lys772, Lys787, Lys854, Lys917 (see all 22)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MIB1 (Q86YT6) (see all 24)
     TSWTYNP  LAKCHKEK  QAASQNGH  RVVRGVDW 


    See MIB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065825.1  
    ENSEMBL proteins: 
     ENSP00000261537  
    Reactome Protein details: Q86YT6

    MIB1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MIB1

     
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    antibodies-online proteins for MIB1 (9 products) 

     
    antibodies-online peptides for MIB1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing
    ZZZ: Zinc fingers, ZZ-type

    Selected InterPro protein domains (see all 6):
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR002110 Ankyrin_rpt
     IPR010606 Mib_Herc2
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q86YT6

    ProtoNet protein and cluster: Q86YT6

    3 Blocks protein domains:
    IPB000433 Zn-finger
    IPB001841 Zn-finger
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: MIB1_HUMAN, Q86YT6
    Similarity: Contains 9 ANK repeats
    Similarity: Contains 2 MIB/HERC2 domains
    Similarity: Contains 3 RING-type zinc fingers
    Similarity: Contains 1 ZZ-type zinc finger


    Find genes that share domains with MIB1           About GenesLikeMe


    (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, 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: MIB1_HUMAN, Q86YT6
    Function: E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of
    Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular
    domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent
    proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced
    apoptosis (By similarity). Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in
    kinase activation

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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0046872metal ion binding ----
         
    Find genes that share ontologies with MIB1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mib1) (see all 16):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  normal 

    Find genes that share phenotypes with MIB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MIB1: Mib1tm1Kong Mib1tm1Art

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MIB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MIB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MIB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MIB1

    miRNA
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    miRTarBase miRNAs that target MIB1:
    hsa-mir-210-3p (MIRT003176), hsa-let-7a-5p (MIRT052585), hsa-mir-193b-3p (MIRT041392), hsa-let-7b-5p (MIRT052189), hsa-mir-103a-3p (MIRT027205), hsa-mir-215-5p (MIRT024481), hsa-mir-21-5p (MIRT030987), hsa-mir-192-5p (MIRT026726), hsa-mir-16-5p (MIRT031932)

    Block miRNA regulation of human, mouse, rat MIB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MIB1 (see all 112):
    hsa-miR-576-3p hsa-miR-520e hsa-miR-607 hsa-miR-411 hsa-miR-15a hsa-miR-200a hsa-miR-3653 hsa-miR-3074-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MIB1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for MIB1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIB1


    (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
    MIB1_HUMAN, Q86YT6: Cytoplasm. Cell membrane (By similarity). Note=Localizes to the plasma membrane (By
    similarity). According to PubMed:15048887, it is mitochondrial, however such localization remains unclear
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus4
    plasma membrane4
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--
    GO:0014069postsynaptic density IEA--
    GO:0031410cytoplasmic vesicle IEA--

    Find genes that share ontologies with MIB1           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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    SuperPaths for MIB1 About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    2Signaling by NOTCH2
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.67
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    Signaling by NOTCH20.67
    Constitutive Signaling by NOTCH1 HD Domain Mutants0.00
    3Signaling by GPCR
    Signal Transduction0.58
    4Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    5Protein Stability
    Protein Stability


    Find genes that share SuperPaths with MIB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for MIB1
        Notch Signaling Pathways


    2 Cell Signaling Technology (CST) Pathways for MIB1
        Wnt / Hedgehog / Notch
    Protein Stability

    1 BioSystems Pathway for MIB1
        Notch signaling pathway

    5 Reactome Pathways for MIB1
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH2 Activation and Transmission of Signal to the Nucleus
    Constitutive Signaling by NOTCH1 HD Domain Mutants
    Activated NOTCH1 Transmits Signal to the Nucleus
    Constitutive Signaling by NOTCH1 PEST Domain Mutants


    UniProtKB/Swiss-Prot: MIB1_HUMAN, Q86YT6
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MIB1: 

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

    Interactions:

        GeneGlobe Interaction Network for MIB1

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

    Selected Interacting proteins for MIB1 (Q86YT61, 2, 3 ENSP000002615374) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNX5Q9Y5X32, 3, ENSP000003669884MINT-2841402 I2D: score=2 STRING: ENSP00000366988
    TBK1Q9UHD21, 3, ENSP000003299674EBI-2129148,EBI-356402 I2D: score=1 STRING: ENSP00000329967
    UBE2D2P628373, ENSP000003817174I2D: score=2 STRING: ENSP00000381717
    UBE2D3P610773, ENSP000003497224I2D: score=2 STRING: ENSP00000349722
    UBE2NP610883, ENSP000003161764I2D: score=2 STRING: ENSP00000316176
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001756somitogenesis IEA--
    GO:0001841neural tube formation IEA--
    GO:0001947heart looping IEA--

    Find genes that share ontologies with MIB1           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for MIB1

    4 HMDB Compounds for MIB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (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 MIB1 gene: 
    NM_020774.3  

    Unigene Clusters for MIB1:

    Mindbomb E3 ubiquitin protein ligase 1
    Hs.140903  [show with all ESTs], Hs.658808  [show with all ESTs]
    Unigene Representative Sequences: NM_020774, BX648566
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000578646 ENST00000261537(uc002ktp.3 uc002ktq.3) ENST00000577749
    ENST00000578260
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MIB1 (see all 112):
    hsa-miR-576-3p hsa-miR-520e hsa-miR-607 hsa-miR-411 hsa-miR-15a hsa-miR-200a hsa-miR-3653 hsa-miR-3074-3p
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      QuantiTect SYBR Green Assays in human, mouse, rat MIB1
      QuantiFast Probe-based Assays in human, mouse, rat MIB1

    Additional mRNA sequence: 

    AF086463.1 AK123912.1 BX648566.1 

    11 DOTS entries:

    DT.454347  DT.101981882  DT.95264194  DT.101985456  DT.121088044  DT.422365  DT.121088041  DT.204878 
    DT.75112943  DT.97827295  DT.100792996 

    Selected AceView cDNA sequences (see all 288):

    AV727020 AA243594 AA972891 AA806186 AI240596 AX746883 BU192771 AW150307 
    AA215348 BX489289 BC022403 AA612844 AA034295 AA459487 BM825127 CB046329 
    AA748357 BE296548 W88972 AA243614 AA258332 AI263115 AA554443 AA629814 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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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    MIB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGAATTAA
    MIB1 Expression
    About this image

    MIB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MIB1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.140903 Hs.658808

    UniProtKB/Swiss-Prot: MIB1_HUMAN, Q86YT6
    Tissue specificity: Widely expressed at low level. Expressed at higher level in spinal cord, ovary, whole brain,
    and all specific brain regions examined

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MIB1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MIB1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIB1

    (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 MIB1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mib11 , 5 mindbomb homolog 1 (Drosophila)1, 5 91.12(n)1
    99.3(a)1
      18 (5.35 cM)5
    2251641  NM_144860.21  NP_659109.21 
     107255485 
    chicken
    (Gallus gallus)
    Aves MIB11 mindbomb E3 ubiquitin protein ligase 1 86.28(n)
    99.01(a)
      421069  XM_419157.4  XP_419157.3 
    lizard
    (Anolis carolinensis)
    Reptilia MIB16
    mindbomb E3 ubiquitin protein ligase 1
    99(a)
    1 ↔ 1
    4(38839670-38892333)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.165102 Xenopus laevis transcribed sequence with weak similarity more 79.47(n)    CA987003.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mib2 mind bomb 80.33(n)   352910  AF537301.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mib11 mind bomb 1 66.14(n)
    73.87(a)
      39750  NM_140569.2  NP_648826.2 


    ENSEMBL Gene Tree for MIB1 (if available)
    TreeFam Gene Tree for MIB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MIB1 gene
    ANKDD1A2  MIB22  ANKDD1B2  
    6 SIMAP similar genes for MIB1 using alignment to 2 protein entries:     MIB1_HUMAN (see all proteins):
    PPP1R12A    CDKN2C    PSMD10    MIB2    DKFZp761E1322    MTPN

    Find genes that share paralogs with MIB1           About GenesLikeMe



    (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 MIB1 (see all 2164)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0696204
    Left ventricular non-compaction 7 (LVNC7)4--see VAR_0696202 V F mis40--------
    rs1161129171,2
    C,F--19319578(+) TTTATC/TCCTGG 1 -- us2k12Minor allele frequency- T:0.12WA NA 238
    rs285155041,2
    C,F--19319637(+) GTTCGA/TGACCA 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs456108401,2
    C--19319891(+) AAAAAA/CAAAAC 1 -- us2k12Minor allele frequency- C:0.07NS NA 40
    rs1134899811,2
    C--19319896(+) AAAACAA/-AACAA 1 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs2013790551,2
    --19319899(+) AACAA-/CAACAA 1 -- us2k10--------
    rs118747351,2
    C,F,A,H--19319902(+) AACAAC/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50NA 4
    rs1997368821,2
    --19319902(+) AACAA-/CAAAAA 1 -- us2k10--------
    rs1487335781,2
    C--19319935(+) TTTCAA/GTACAT 1 -- us2k10--------
    rs1920166231,2
    C--19320110(+) ACCCTA/GTGCAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MIB1 (19284918 - 19450918 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MIB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716852CNV Deletion23290073
    nsv2222CNV Insertion18451855
    dgv3395n71CNV Loss21882294
    nsv909453CNV Loss21882294
    nsv909450CNV Gain21882294
    nsv909448CNV Gain21882294

    Human Gene Mutation Database (HGMD): MIB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MIB1
    DNA2.0 Custom Variant and Variant Library Synthesis for MIB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608677   
    OMIM disorders: 615092  
    UniProtKB/Swiss-Prot: MIB1_HUMAN, Q86YT6
  • Left ventricular non-compaction 7 (LVNC7) [MIM:615092]: A disease due to an arrest of myocardial
    morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor
    systolic function, with or without associated left ventricular dilation. In some cases, it is associated with
    other congenital heart anomalies. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 3 diseases for MIB1:    
    About MalaCards
    left ventricular noncompaction 7    left ventricular noncompaction 1, with or without congenital heart defects    alkaptonuria

    4 diseases from the University of Copenhagen DISEASES database for MIB1:
    Carcinoma     Breast cancer     Adenoma     Meningioma

    Find genes that share disorders with MIB1           About GenesLikeMe

    3 Novoseek inferred disease relationships for MIB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 13.2 2 10072173 (1), 12351649 (1)
    carcinoma 1.98 2 7792271 (1), 10738715 (1)
    necrosis 0 2 10072173 (1), 12351649 (1)


    Export disorders for MIB1 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 MIB1 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with MIB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. (PubMed id 23314057)1, 2 Luxan G.... de la Pompa J.L. (Nat. Med. 2013)
    2. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1, 2 Li S.... Dorf M.E. (Immunity 2011)
    3. Death-associated protein kinase expression in human temporal lobe epilepsy. (PubMed id 15048887)1, 2 Henshall D.C....Simon R.P. (Ann. Neurol. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. Mind bomb is a ubiquitin ligase that is essential for efficient activation of Notch signaling by Delta. (PubMed id 12530964)1, 2 Itoh M.... Chitnis A.B. (Dev. Cell 2003)
    7. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    8. A death-associated protein kinase (DAPK)-interacting protein, DIP-1, is an E3 ubiquitin ligase that promotes tumor necrosis factor-induced apoptosis and regulates the cellular levels of DAPK. (PubMed id 12351649)1, 9 Jin Y....Gallagher P.J. (J. Biol. Chem. 2002)
    9. Mind bomb 1 regulation of cFLIP interactions. (PubMed id 19710364)1, 9 Zhang L. and Gallagher P.J. (Am. J. Physiol., Cell Physiol. 2009)
    10. TopBP1 controls BLM protein level to maintain genome stability. (PubMed id 24239288)1 Wang J....Gong Z. (Mol. Cell 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 57534 HGNC: 21086 AceView: MIB1 Ensembl:ENSG00000101752 euGenes: HUgn57534
    ECgene: MIB1 H-InvDB: MIB1

    (According to HUGE)
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    HUGE: KIAA1323

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MIB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MIB1 gene:
    Search GeneIP for patents involving MIB1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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