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

Gene ID: 57534, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (21704916..21870953)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (21925869..22056013)
105.20220307 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. 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
  2. E3 ubiquitin ligase Mindbomb 1 facilitates nuclear delivery of adenovirus genomes. Sarbanes SL, et al. Proc Natl Acad Sci U S A, 2021 Jan 5. PMID 33443154, Free PMC Article
  3. Mind Bomb 1 Promotes Pancreatic Cancer Proliferation by Activating β-Catenin Signaling. Fu X, et al. J Nanosci Nanotechnol, 2020 Dec 1. PMID 32711591
  4. 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
  5. 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

See all (106) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Mind Bomb 1 Promotes Pancreatic Cancer Proliferation by Activating beta-Catenin Signaling.
    Title: Mind Bomb 1 Promotes Pancreatic Cancer Proliferation by Activating β-Catenin Signaling.
  10. E3 ubiquitin ligase Mindbomb 1 facilitates nuclear delivery of adenovirus genomes.
    Title: E3 ubiquitin ligase Mindbomb 1 facilitates nuclear delivery of adenovirus genomes.
Submit: New GeneRIF Correction See all GeneRIFs (35)

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 plasma membrane 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_2023_10

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

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