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    MIB2 mindbomb E3 ubiquitin protein ligase 2 [ Homo sapiens ]

    Gene ID: 142678, updated on 11-May-2012

    Summary

    Official Symbol
    MIB2provided by HGNC
    Official Full Name
    mindbomb E3 ubiquitin protein ligase 2provided by HGNC
    Primary source
    HGNC:30577
    Locus tag
    RP11-345P4.1
    See related
    Ensembl:ENSG00000197530; HPRD:15905; MIM:611141; Vega:OTTHUMG00000074647
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZZZ5; ZZANK1; FLJ20648; FLJ39787; FLJ41406

    Genomic context

    Location :
    1p36.33
    Sequence :
    Chromosome: 1; NC_000001.10 (1550795..1565990)
    See MIB2 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) Neighboring gene chromosome 1 open reading frame 233 Neighboring gene matrix metallopeptidase 23B Neighboring gene cyclin-dependent kinase 11B

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q96AX9 P68032 ACTC1    HPRD  PubMed  
    BioGRID:126769 BioGRID:106573 ACTA1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:126769 BioGRID:114429 BCL10    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:126769 BioGRID:198317 Bcl10    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:126769 BioGRID:109161 GRIN2B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:126769 BioGRID:114089 IKBKG    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:126769 BioGRID:109918 JAG2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:126769 BioGRID:112748 MAP3K7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:126769 BioGRID:118878 TBK1    BioGRID  PubMed Biochemical Activity 
    BioGRID:126769 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:126769 BioGRID:127156 UBE2U    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    signal transducer activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase MIB2
    Names
    E3 ubiquitin-protein ligase MIB2
    novelzin
    skeletrophin
    mindbomb homolog 2
    mind bomb homolog 2
    novel zinc finger protein
    putative NF-kappa-B-activating protein 002N
    zinc finger, ZZ type with ankyrin repeat domain 1
    zinc finger ZZ type with ankyrin repeat domain protein 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001170686.1NP_001164157.1  E3 ubiquitin-protein ligase MIB2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AB076693, AL691432, BC037542, DC402226
      Consensus CDS
      CCDS53261.1
      UniProtKB/TrEMBL
      E9PGU1
      UniProtKB/Swiss-Prot
      Q96AX9
      Related
      ENSP00000428660, OTTHUMP00000220666, ENST00000520777, OTTHUMT00000365934
      Conserved Domains (6) summary
      cd00204
      Location:574686
      Blast Score: 281
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd02339
      Location:204248
      Blast Score: 239
      ZZ_Mind_bomb; Zinc finger, ZZ type. Zinc finger present in Drosophila Mind bomb (D-mib) and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Mind bomb is an E3 ubiqitin ligase that has ...
      pfam06701
      Location:275339
      Blast Score: 215
      MIB_HERC2; Mib_herc2
      pfam12796
      Location:580672
      Blast Score: 232
      Ank_2; Ankyrin repeats (3 copies)
      pfam13923
      Location:10181056
      Blast Score: 94
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
      cl15348
      Location:10181061
      Blast Score: 115
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    2. NM_001170687.1NP_001164158.1  E3 ubiquitin-protein ligase MIB2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AB076691, AK302757, AL691432, BC016490, BC037542
      Consensus CDS
      CCDS53263.1
      UniProtKB/TrEMBL
      B4DZ57
      UniProtKB/Swiss-Prot
      Q96AX9
      Related
      ENSP00000348081, OTTHUMP00000083363, ENST00000355826, OTTHUMT00000158402
      Conserved Domains (6) summary
      cd00204
      Location:564676
      Blast Score: 281
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd02339
      Location:190234
      Blast Score: 239
      ZZ_Mind_bomb; Zinc finger, ZZ type. Zinc finger present in Drosophila Mind bomb (D-mib) and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Mind bomb is an E3 ubiqitin ligase that has ...
      pfam06701
      Location:261325
      Blast Score: 215
      MIB_HERC2; Mib_herc2
      pfam12796
      Location:570662
      Blast Score: 231
      Ank_2; Ankyrin repeats (3 copies)
      pfam13923
      Location:10081046
      Blast Score: 94
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
      cl15348
      Location:10081051
      Blast Score: 115
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    3. NM_001170688.1NP_001164159.1  E3 ubiquitin-protein ligase MIB2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.
      Source sequence(s)
      AB076692, AL691432, BC037542, DC402226
      Consensus CDS
      CCDS53262.1
      UniProtKB/TrEMBL
      E9PHQ1
      UniProtKB/Swiss-Prot
      Q96AX9
      Related
      ENSP00000428264, OTTHUMP00000083364, ENST00000518681, OTTHUMT00000158404
      Conserved Domains (6) summary
      cd00204
      Location:513625
      Blast Score: 280
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd02339
      Location:204248
      Blast Score: 238
      ZZ_Mind_bomb; Zinc finger, ZZ type. Zinc finger present in Drosophila Mind bomb (D-mib) and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Mind bomb is an E3 ubiqitin ligase that has ...
      pfam06701
      Location:135195
      Blast Score: 150
      MIB_HERC2; Mib_herc2
      pfam12796
      Location:519611
      Blast Score: 231
      Ank_2; Ankyrin repeats (3 copies)
      pfam13923
      Location:957995
      Blast Score: 93
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
      cl15348
      Location:9571000
      Blast Score: 114
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    4. NM_001170689.1NP_001164160.1  E3 ubiquitin-protein ligase MIB2 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, lacks an alternate in-frame exon in the central coding region, and lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, a distinct C-terminus, and is overall shorter than isoform 1.
      Source sequence(s)
      AK128167, AL691432, BC037542, DA391220, DA767833
      Consensus CDS
      CCDS53264.1
      UniProtKB/TrEMBL
      B3KXY1
      UniProtKB/Swiss-Prot
      Q96AX9
      Related
      ENSP00000367984, OTTHUMP00000083365, ENST00000378712, OTTHUMT00000158407
      Conserved Domains (4) summary
      cd00204
      Location:398510
      Blast Score: 272
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd02339
      Location:89133
      Blast Score: 246
      ZZ_Mind_bomb; Zinc finger, ZZ type. Zinc finger present in Drosophila Mind bomb (D-mib) and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Mind bomb is an E3 ubiqitin ligase that has ...
      pfam06701
      Location:2080
      Blast Score: 145
      MIB_HERC2; Mib_herc2
      pfam12796
      Location:404496
      Blast Score: 226
      Ank_2; Ankyrin repeats (3 copies)
    5. NM_080875.2NP_543151.2  E3 ubiquitin-protein ligase MIB2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB074480, AL691432, BC037542, DC402226
      Consensus CDS
      CCDS41224.2
      UniProtKB/TrEMBL
      F8WA73
      UniProtKB/Swiss-Prot
      Q96AX9
      Related
      ENSP00000426103, OTTHUMP00000220661, ENST00000505820, OTTHUMT00000365928
      Conserved Domains (6) summary
      cd00204
      Location:578690
      Blast Score: 281
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd02339
      Location:204248
      Blast Score: 239
      ZZ_Mind_bomb; Zinc finger, ZZ type. Zinc finger present in Drosophila Mind bomb (D-mib) and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Mind bomb is an E3 ubiqitin ligase that has ...
      pfam06701
      Location:275339
      Blast Score: 215
      MIB_HERC2; Mib_herc2
      pfam12796
      Location:584676
      Blast Score: 232
      Ank_2; Ankyrin repeats (3 copies)
      pfam13923
      Location:10221060
      Blast Score: 94
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
      cl15348
      Location:10221065
      Blast Score: 116
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    RNA

    1. NR_033183.1 RNA Sequence

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK122751, AL691432, BC037542, DC402226

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      1550795..1565990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      824580..841846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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