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). [pr... See more...

Aliases for MIB1 Gene

Aliases for MIB1 Gene

  • Mindbomb E3 Ubiquitin Protein Ligase 1 2 3 5
  • Zinc Finger ZZ Type With Ankyrin Repeat Domain Protein 2 3 4
  • RING-Type E3 Ubiquitin Transferase MIB1 3 4
  • E3 Ubiquitin-Protein Ligase MIB1 3 4
  • DAPK-Interacting Protein 1 3 4
  • ZZANK2 3 4
  • DIP-1 3 4
  • DIP1 3 4
  • Mindbomb Homolog 1 (Drosophila) 2
  • Ubiquitin Ligase Mind Bomb 3
  • Mind Bomb Homolog 1 4
  • EC 2.3.2.27 4
  • KIAA1323 4
  • EC 6.3.2 52
  • LVNC7 3
  • ZZZ6 3
  • MIB 3

External Ids for MIB1 Gene

Previous GeneCards Identifiers for MIB1 Gene

  • GC18P017574
  • GC18P017575
  • GC18P019321
  • GC18P016168
  • GC18P019284

Summaries for MIB1 Gene

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. Among its related pathways are Notch Signaling Pathway (WikiPathways) and Signaling by NOTCH1. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is MIB2.

UniProtKB/Swiss-Prot Summary for MIB1 Gene

  • 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). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in kinase activation.

Gene Wiki entry for MIB1 Gene

Additional gene information for MIB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MIB1 Gene

Genomics for MIB1 Gene

GeneHancer (GH) Regulatory Elements for MIB1 Gene

Promoters and enhancers for MIB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MIB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MIB1

Top Transcription factor binding sites by QIAGEN in the MIB1 gene promoter:
  • ATF
  • c-Ets-1
  • Msx-1
  • p300
  • p53
  • Pax-4a
  • Pax-5
  • STAT3
  • YY1

Genomic Locations for MIB1 Gene

Genomic Locations for MIB1 Gene
chr18:21,704,957-21,870,957
(GRCh38/hg38)
Size:
166,001 bases
Orientation:
Plus strand
chr18:19,284,918-19,450,918
(GRCh37/hg19)
Size:
166,001 bases
Orientation:
Plus strand

Genomic View for MIB1 Gene

Genes around MIB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIB1 Gene

Proteins for MIB1 Gene

  • Protein details for MIB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YT6-MIB1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MIB1
    Protein Accession:
    Q86YT6
    Secondary Accessions:
    • B0YJ38
    • Q2TB37
    • Q68D01
    • Q6YI51
    • Q8NBY0
    • Q8TCB5
    • Q8TCL7
    • Q9P2M3

    Protein attributes for MIB1 Gene

    Size:
    1006 amino acids
    Molecular mass:
    110136 Da
    Quaternary structure:
    • Interacts with CEP131 and PCM1.
    Miscellaneous:
    • In epilepsy brain tissue, levels of expression are increased in the cytoplasm and microsomal fractions (endoplasmic reticulum).
    SequenceCaution:
    • Sequence=AAH22403.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAN18023.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC11439.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MIB1 Gene

neXtProt entry for MIB1 Gene

Selected DME Specific Peptides for MIB1 Gene

Q86YT6:
  • KQDGGEGHVGTVR
  • ASIACFLAANGADL
  • EKKDDGYTALHLAALNNHVE
  • SGNRWTFNPAVLTK
  • QTALHLAVERQH
  • TSWTYNP
  • EEVVVVWDNGTAANYRC
  • CYHGDKHHLRHRFYRITTPG
  • GIDEDHDIVV
  • LAKCHKEK
  • RMSECPICR
  • GTMCDTCRQQPI
  • GIRWKCAEC
  • NEELVKAAANGD
  • KNLYRVGFEGM
  • LQRGHGEWA
  • EDKDGDRAVHHAAFGDE
  • DKDGDTPLHEALRHHTLSQL
  • KRDTLFGPCGHIATCSLCSPRVKKCL
  • RVVRGVDW
  • LHIAVNKGHL
  • QQLQDIKEQTMCPVC
  • NNNGFNALHHAAL
  • QAASQNGH

Post-translational modifications for MIB1 Gene

  • Ubiquitinated; possibly via autoubiquitination (By similarity). Ubiquitinated; this modification is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock.
  • Ubiquitination at Lys28, Lys79, Lys202, Lys222, Lys313, Lys368, Lys399, Lys421, Lys437, Lys452, Lys485, Lys618, Lys691, Lys726, Lys735, Lys750, Lys772, Lys787, Lys854, Lys917, Lys938, and Lys949
  • Modification sites at PhosphoSitePlus

Other Protein References for MIB1 Gene

Antibody Products

  • Boster Bio Antibodies for MIB1

Domains & Families for MIB1 Gene

Gene Families for MIB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MIB1 Gene

Blocks:
  • Ankyrin repeat signature
  • Zn-finger, RING
  • Zn-finger, ZZ type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MIB1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger ZZ type with ankyrin repeat domain protein 2 (MIB1_HUMAN)
genes like me logo Genes that share domains with MIB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MIB1 Gene

Function for MIB1 Gene

Molecular function for MIB1 Gene

UniProtKB/Swiss-Prot 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). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in kinase activation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for MIB1 Gene

Phenotypes From GWAS Catalog for MIB1 Gene

Gene Ontology (GO) - Molecular Function for MIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA 21873635
GO:0005515 protein binding IPI,IEA 21903422
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MIB1: view
genes like me logo Genes that share phenotypes with MIB1: view

Human Phenotype Ontology for MIB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MIB1 Gene

MGI Knock Outs for MIB1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIB1

No data available for Transcription Factor Targets and HOMER Transcription for MIB1 Gene

Localization for MIB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIB1 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell membrane. Note=Localizes to the plasma membrane (By similarity). According to PubMed:15048887, it is mitochondrial, however such localization remains unclear. Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIB1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 4
nucleus 3
extracellular 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with MIB1: view

Pathways & Interactions for MIB1 Gene

genes like me logo Genes that share pathways with MIB1: view

Pathways by source for MIB1 Gene

1 Cell Signaling Technology pathway for MIB1 Gene
1 GeneTex pathway for MIB1 Gene

UniProtKB/Swiss-Prot Q86YT6-MIB1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for MIB1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for MIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001756 somitogenesis IEA --
GO:0001841 neural tube formation IEA --
GO:0001947 heart looping IEA --
genes like me logo Genes that share ontologies with MIB1: view

Drugs & Compounds for MIB1 Gene

(3) Drugs for MIB1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for MIB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with MIB1: view

Transcripts for MIB1 Gene

mRNA/cDNA for MIB1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIB1

Alternative Splicing Database (ASD) splice patterns (SP) for MIB1 Gene

No ASD Table

Relevant External Links for MIB1 Gene

GeneLoc Exon Structure for
MIB1

Expression for MIB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MIB1 Gene

Protein differential expression in normal tissues from HIPED for MIB1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (36.3), Esophagus (10.4), and Placenta (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MIB1 Gene



Protein tissue co-expression partners for MIB1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MIB1

SOURCE GeneReport for Unigene cluster for MIB1 Gene:

Hs.140903

mRNA Expression by UniProt/SwissProt for MIB1 Gene:

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

Evidence on tissue expression from TISSUES for MIB1 Gene

  • Nervous system(4.6)
  • Lung(4.3)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MIB1 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • respiratory
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with MIB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MIB1 Gene

Orthologs for MIB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIB1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia MIB1 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MIB1 31 30
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MIB1 31 30
  • 94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MIB1 31 30
  • 91.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mib1 17 31 30
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Mib1 30
  • 91.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MIB1 31
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIB1 31 30
  • 86.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIB1 31
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mib1 30
  • 82.21 (n)
Str.15052 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16510 30
zebrafish
(Danio rerio)
Actinopterygii MIB1 (1 of 2) 31
  • 89 (a)
OneToMany
mib 31 30 30
  • 76.69 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mib1 31 30
  • 66.14 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011932 30
  • 61.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToOne
Cin.7778 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7778 30
Species where no ortholog for MIB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIB1 Gene

ENSEMBL:
Gene Tree for MIB1 (if available)
TreeFam:
Gene Tree for MIB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MIB1: view image

Paralogs for MIB1 Gene

Paralogs for MIB1 Gene

(6) SIMAP similar genes for MIB1 Gene using alignment to 2 proteins:

  • MIB1_HUMAN
  • L8EA82_HUMAN
genes like me logo Genes that share paralogs with MIB1: view

Variants for MIB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MIB1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
668990 Benign: not provided 21,741,286(+) G/A GENIC_UPSTREAM_TRANSCRIPT_VARIANT
671481 Likely Benign: not provided 21,768,656(+) G/A SYNONYMOUS_VARIANT
672724 Benign: not provided 21,857,542(+) T/C INTRON_VARIANT
678067 Benign: not provided 21,844,002(+) GT/G INTRON_VARIANT
678135 Benign: not provided 21,819,777(+) T/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MIB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MIB1 Gene

Variant ID Type Subtype PubMed ID
esv2716852 CNV deletion 23290073
esv3641942 CNV loss 21293372
nsv2222 CNV insertion 18451855
nsv954136 CNV deletion 24416366

Variation tolerance for MIB1 Gene

Residual Variation Intolerance Score: 1.38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MIB1 Gene

Human Gene Mutation Database (HGMD)
MIB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIB1 Gene

Disorders for MIB1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MIB1 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
left ventricular noncompaction 7
  • lvnc7
left ventricular noncompaction
  • left ventricular hypertrabeculation
lymphoplasmacyte-rich meningioma
  • meningioma
microcystic meningioma
diffuse meningeal melanocytosis
  • diffuse melanocytosis
- elite association - COSMIC cancer census association via MalaCards
Search MIB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MIB1_HUMAN
  • Left ventricular non-compaction 7 (LVNC7) [MIM:615092]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC7 is an autosomal dominant condition. {ECO:0000269 PubMed:23314057}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MIB1

genes like me logo Genes that share disorders with MIB1: view

No data available for Genatlas for MIB1 Gene

Publications for MIB1 Gene

  1. A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis. (PMID: 24121310) Villumsen BH … Bekker-Jensen S (The EMBO journal 2013) 3 4 54
  2. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. (PMID: 23314057) Luxán G … de la Pompa JL (Nature medicine 2013) 3 4 54
  3. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PMID: 21903422) Li S … Dorf ME (Immunity 2011) 3 4 54
  4. Mind bomb 1 regulation of cFLIP interactions. (PMID: 19710364) Zhang L … Gallagher PJ (American journal of physiology. Cell physiology 2009) 3 23 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for MIB1 Gene

Sources for MIB1 Gene