Free for academic non-profit institutions. Other users need a Commercial license

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
  • DAPK-Interacting Protein 1 3 4
  • ZZANK2 3 4
  • DIP-1 3 4
  • DIP1 3 4
  • E3 Ubiquitin-Protein Ligase MIB1 3
  • 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 61
  • 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 (KEGG) and Signaling by NOTCH1. 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 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIB1 Gene

Genomics for MIB1 Gene

Regulatory Elements for MIB1 Gene

Enhancers for MIB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G022489 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.2 +787.4 787433 6.1 PKNOX1 FOXA2 ZNF133 FEZF1 YY1 ZNF121 ZNF766 ZNF302 GATA2 KLF7 ESCO1 MIB1 SNRPD1 MIR133A1HG GC18P022454 RPS4XP18
GH18G021611 1.4 ENCODE dbSUPER 11 -92.3 -92311 2.2 HDGF PKNOX1 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ESCO1 ENSG00000264188 MIR320C1 MIB1 SNRPD1 GC18M021596
GH18G021598 1.4 ENCODE dbSUPER 10.4 -104.2 -104215 4.4 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 MIR320C1 MIB1 ENSG00000199977 ABHD3 SNRPD1 ESCO1 GC18P021594
GH18G021803 0.7 Ensembl 16.3 +98.5 98544 0.2 ELF3 SOX5 SOX13 GATAD2A SAP130 TEAD1 HLF CEBPB CEBPG HMG20A MIB1 MIR133A1 MIR320C1 RN7SL233P GC18P021818
GH18G021825 0.6 ENCODE 17 +124.6 124568 7.9 MAFF ZNF316 MAFG HNF4A MLLT1 IRF1 EMSY MAFK MIB1 MIR320C1 MIR133A1HG ABHD3 MIR1-2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIB1 on UCSC Golden Path with GeneCards custom track

Promoters for MIB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000101219 -757 2401 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A YY1 SLC30A9 ZNF143

Genomic Location for MIB1 Gene

Chromosome:
18
Start:
21,704,957 bp from pter
End:
21,870,957 bp from pter
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; Positions=3; 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, posLast=7979, Lys202, Lys222, Lys313, posLast=368368, posLast=399399, posLast=421421, Lys437, posLast=452452, Lys485, Lys618, Lys691, Lys726, Lys735, Lys750, posLast=772772, Lys787, Lys854, Lys917, posLast=938938, and Lys949
  • Modification sites at PhosphoSitePlus

Other Protein References for MIB1 Gene

Domains & Families for MIB1 Gene

Suggested Antigen Peptide Sequences for MIB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MIB1 Gene

Function for MIB1 Gene

Molecular function for MIB1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
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.

Enzyme Numbers (IUBMB) 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 TAS --
GO:0005515 protein binding IPI 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

Clone Products

  • Addgene plasmids 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
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IEA --
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 GeneTex pathway for MIB1 Gene
1 Cell Signaling Technology pathway for MIB1 Gene
1 BioSystems 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 Nutra 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with MIB1: view

Transcripts for MIB1 Gene

Unigene Clusters for MIB1 Gene

Mindbomb E3 ubiquitin protein ligase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
MIB1

Expression for MIB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MIB1 Gene



Protein tissue co-expression partners for MIB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MIB1 Gene:

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
Organs:
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

Primer Products

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 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MIB1 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia MIB1 35 34
  • 94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MIB1 35 34
  • 91.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mib1 16 35 34
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Mib1 34
  • 91.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MIB1 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIB1 34 35
  • 86.28 (n)
lizard
(Anolis carolinensis)
Reptilia MIB1 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mib1 34
  • 82.21 (n)
Str.15052 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16510 34
zebrafish
(Danio rerio)
Actinopterygii MIB1 (1 of 2) 35
  • 89 (a)
OneToMany
mib 34 35
  • 76.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta mib1 34 35
  • 66.14 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011932 34
  • 61.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7778 34
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)

Paralogs for MIB1 Gene

Paralogs for MIB1 Gene

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

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

Variants for MIB1 Gene

Sequence variations from dbSNP and Humsavar for MIB1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs200035428 Pathogenic, Left ventricular non-compaction 7 (LVNC7) [MIM:615092] 21,858,593(+) CCAAT(G/T)TCAAT reference, missense
rs201850378 Pathogenic 21,815,724(+) AGCGC(C/T)GACAG reference, stop-gained
rs190657514 Likely benign 21,765,918(+) TTTAC(C/T)GAATT reference, stop-gained
rs1057518310 Uncertain significance 21,846,967(+) ACCCA(G/T)GGGGC reference, missense
rs369261422 Uncertain significance 21,768,663(+) TTACA(G/T)CCAGA reference, missense

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)

Relevant External Links for MIB1 Gene

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

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

Disorders for MIB1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MIB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
left ventricular noncompaction 7
  • lvnc7
left ventricular noncompaction
  • left ventricular hypertrabeculation
lymphoplasmacyte-rich meningioma
  • lymphoplasmocyte-rich meningioma
juxtacortical chondroma
  • periosteal chondroma
optic nerve neoplasm
  • neoplasm of optic nerve
- 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 disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. {ECO:0000269 PubMed:23314057}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. (PMID: 23314057) Luxan G. … de la Pompa J.L. (Nat. Med. 2013) 3 4 64
  2. A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis. (PMID: 24121310) Villumsen B.H. … Bekker-Jensen S. (EMBO J. 2013) 3 4 64
  3. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PMID: 21903422) Li S. … Dorf M.E. (Immunity 2011) 3 4 64
  4. Mind bomb 1 regulation of cFLIP interactions. (PMID: 19710364) Zhang L. … Gallagher P.J. (Am. J. Physiol., Cell Physiol. 2009) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MIB1 Gene

  • Addgene plasmids for MIB1

Sources for MIB1 Gene

Content
Loading form....