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    MIB1 MIB E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

    Gene ID: 57534, updated on 3-Dec-2024

    Summary

    Official Symbol
    MIB1provided by HGNC
    Official Full Name
    MIB E3 ubiquitin protein ligase 1provided by HGNC
    Primary source
    HGNC:HGNC:21086
    See related
    Ensembl:ENSG00000101752 MIM:608677; AllianceGenome:HGNC:21086
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIB; DIP1; ZZZ6; DIP-1; LVNC7; ZZANK2
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.2), endometrium (RPKM 6.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MIB1 in Genome Data Viewer
    Location:
    18q11.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (21704916..21870953)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (21925869..22056013)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (19320753..19450914)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13136 Neighboring gene small nuclear ribonucleoprotein D1 polypeptide Neighboring gene MPRA-validated peak3065 silencer Neighboring gene MPRA-validated peak3066 silencer Neighboring gene abhydrolase domain containing 3, phospholipase Neighboring gene microRNA 320c-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13138 Neighboring gene MPRA-validated peak3067 silencer Neighboring gene small nucleolar RNA SNORA81 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9345 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:19330549-19331049 Neighboring gene VISTA enhancer hs1650 Neighboring gene RNA, 7SL, cytoplasmic 233, pseudogene Neighboring gene small nucleolar RNA SNORA73 family Neighboring gene MIR133A1 host gene Neighboring gene microRNA 133a-1 Neighboring gene microRNA 1-2 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:19442056-19442255 Neighboring gene ribosomal protein L34 pseudogene 32 Neighboring gene RNA, U6 small nuclear 1038, pseudogene Neighboring gene uncharacterized LOC105372016 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:19490742-19491339

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ90676, MGC129659, MGC129660, DKFZp686I0769, DKFZp761M1710

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase MIB1
    Names
    DAPK-interacting protein 1
    RING-type E3 ubiquitin transferase MIB1
    mindbomb E3 ubiquitin protein ligase 1
    ubiquitin ligase mind bomb
    zinc finger ZZ type with ankyrin repeat domain protein 2
    NP_065825.1
    XP_011524400.1
    XP_016881363.1
    XP_016881364.1
    XP_047293632.1
    XP_054174842.1
    XP_054174843.1
    XP_054174844.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_033272.2 RefSeqGene

      Range
      41373..171001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_759

    mRNA and Protein(s)

    1. NM_020774.4NP_065825.1  E3 ubiquitin-protein ligase MIB1

      See identical proteins and their annotated locations for NP_065825.1

      Status: REVIEWED

      Source sequence(s)
      AC091038, AC103987, AY149908
      Consensus CDS
      CCDS11871.1
      UniProtKB/Swiss-Prot
      B0YJ38, Q2TB37, Q68D01, Q6YI51, Q86YT6, Q8NBY0, Q8TCB5, Q8TCL7, Q9P2M3
      Related
      ENSP00000261537.6, ENST00000261537.7
      Conserved Domains (9) summary
      PHA03095
      Location:439710
      PHA03095; ankyrin-like protein; Provisional
      cd02339
      Location:83127
      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 ...
      sd00045
      Location:562593
      ANK; ANK repeat [structural motif]
      cd16724
      Location:818854
      RING1-HC_MIB1; RING finger 1, HC subclass, found in mind bomb 1 (MIB1) and similar proteins
      cd16725
      Location:865901
      RING2-HC_MIB1; RING finger 2, HC subclass, found in mind bomb 1 (MIB1) and similar proteins
      cd16727
      Location:9621003
      RING3-HC_MIB1; RING finger 3, HC subclass, found in mind bomb 1 (MIB1) and similar proteins
      pfam06701
      Location:154218
      MIB_HERC2; Mib_herc2
      pfam12796
      Location:670770
      Ank_2; Ankyrin repeats (3 copies)
      pfam18346
      Location:333397
      SH3_15; Mind bomb SH3 repeat domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      21704916..21870953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437676.1XP_047293632.1  E3 ubiquitin-protein ligase MIB1 isoform X1

      UniProtKB/TrEMBL
      B3KRA8
    2. XM_017025874.2XP_016881363.1  E3 ubiquitin-protein ligase MIB1 isoform X3

    3. XM_017025875.2XP_016881364.1  E3 ubiquitin-protein ligase MIB1 isoform X4

    4. XM_011526098.2XP_011524400.1  E3 ubiquitin-protein ligase MIB1 isoform X2

      Conserved Domains (4) summary
      cd00204
      Location:34162
      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 ...
      pfam12796
      Location:110206
      Ank_2; Ankyrin repeats (3 copies)
      pfam13920
      Location:372417
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      sd00045
      Location:72103
      ANK; ANK repeat [structural motif]

    RNA

    1. XR_007066203.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      21925869..22056013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318868.1XP_054174843.1  E3 ubiquitin-protein ligase MIB1 isoform X3

    2. XM_054318869.1XP_054174844.1  E3 ubiquitin-protein ligase MIB1 isoform X4

    3. XM_054318867.1XP_054174842.1  E3 ubiquitin-protein ligase MIB1 isoform X2

    RNA

    1. XR_008485018.1 RNA Sequence