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

    Gene ID: 57534, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. N(6)-methyladenosine-modified MIB1 promotes stemness properties and peritoneal metastasis of gastric cancer cells by ubiquitinating DDX3X. Xu P, et al. Gastric Cancer, 2024 Mar. PMID 38252226
    2. The clinical and pathological significance of nitric oxide synthase in human pituitary adenomas: a comparison with MIB-1. Onishi K, et al. Endocrine, 2014 May. PMID 24008756
    3. Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve. Tessler I, et al. JAMA Cardiol, 2023 Aug 1. PMID 37405741, Free PMC Article
    4. Increased MIB-1 expression in salivary gland pleomorphic adenoma that recurs and undergoes malignant transformation. Markkanen A, et al. Sci Rep, 2022 May 30. PMID 35637257, Free PMC Article
    5. A systematic review of the risk factors associated with the onset and progression of primary brain tumours. Quach P, et al. Neurotoxicology, 2017 Jul. PMID 27212451

    See all (113) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural requirements for activity of Mind bomb1 in Notch signaling.
      Title: Structural requirements for activity of Mind bomb1 in Notch signaling.
    2. N[6]-methyladenosine-modified MIB1 promotes stemness properties and peritoneal metastasis of gastric cancer cells by ubiquitinating DDX3X.
      Title: N(6)-methyladenosine-modified MIB1 promotes stemness properties and peritoneal metastasis of gastric cancer cells by ubiquitinating DDX3X.
    3. Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
      Title: Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
    4. The E3 ubiquitin ligase MIB1 suppresses breast cancer cell migration through regulating CTNND1 protein level.
      Title: The E3 ubiquitin ligase MIB1 suppresses breast cancer cell migration through regulating CTNND1 protein level.
    5. EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.
      Title: EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.
    6. CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway.
      Title: CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway.
    7. Associations of the Methylation Levels of NFAT5, PVT1, RPS6KA1, and MIB1 with Steroid-Resistant Asthma.
      Title: Associations of the Methylation Levels of NFAT5, PVT1, RPS6KA1, and MIB1 with Steroid-Resistant Asthma.
    8. A Novel Long-Noncoding RNA LncZFAS1 Prevents MPP(+)-Induced Neuroinflammation Through MIB1 Activation.
      Title: A Novel Long-Noncoding RNA LncZFAS1 Prevents MPP(+)-Induced Neuroinflammation Through MIB1 Activation.
    9. Increased MIB-1 expression in salivary gland pleomorphic adenoma that recurs and undergoes malignant transformation.
      Title: Increased MIB-1 expression in salivary gland pleomorphic adenoma that recurs and undergoes malignant transformation.
    10. MicroRNA1955p is associated with cell proliferation, migration and invasion in prostate cancer and targets MIB1.
      Title: MicroRNA‑195‑5p is associated with cell proliferation, migration and invasion in prostate cancer and targets MIB1.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Left ventricular noncompaction 7
    MedGen: C3554496 OMIM: 615092 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_020774.4 → NP_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:439 → 710
      PHA03095; ankyrin-like protein; Provisional
      cd02339
      Location:83 → 127
      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:562 → 593
      ANK; ANK repeat [structural motif]
      cd16724
      Location:818 → 854
      RING1-HC_MIB1; RING finger 1, HC subclass, found in mind bomb 1 (MIB1) and similar proteins
      cd16725
      Location:865 → 901
      RING2-HC_MIB1; RING finger 2, HC subclass, found in mind bomb 1 (MIB1) and similar proteins
      cd16727
      Location:962 → 1003
      RING3-HC_MIB1; RING finger 3, HC subclass, found in mind bomb 1 (MIB1) and similar proteins
      pfam06701
      Location:154 → 218
      MIB_HERC2; Mib_herc2
      pfam12796
      Location:670 → 770
      Ank_2; Ankyrin repeats (3 copies)
      pfam18346
      Location:333 → 397
      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_047437676.1 → XP_047293632.1  E3 ubiquitin-protein ligase MIB1 isoform X1

    2. XM_017025874.2 → XP_016881363.1  E3 ubiquitin-protein ligase MIB1 isoform X3

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

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

      Conserved Domains (4) summary
      cd00204
      Location:34 → 162
      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:110 → 206
      Ank_2; Ankyrin repeats (3 copies)
      pfam13920
      Location:372 → 417
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      sd00045
      Location:72 → 103
      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_054318868.1 → XP_054174843.1  E3 ubiquitin-protein ligase MIB1 isoform X3

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

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

    RNA

    1. XR_008485018.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YT6.1 GenPept UniProtKB/Swiss-Prot:Q86YT6

    Gene LinkOut

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