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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
  • 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 6.3.2.- 4
  • KIAA1323 4
  • EC 6.3.2 63
  • 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 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is ANKDD1A.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIB1 Gene

Genomics for MIB1 Gene

Regulatory Elements for MIB1 Gene

Promoters for MIB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MIB1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MIB1 Gene at MOPED

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 Lys 28, Lys 79, Lys 202, Lys 222, Lys 313, Lys 368, Lys 399, Lys 421, Lys 437, Lys 452, Lys 485, Lys 618, Lys 691, Lys 726, Lys 735, Lys 750, Lys 772, Lys 787, Lys 854, Lys 917, Lys 938, and Lys 949
  • Modification sites at PhosphoSitePlus

Other Protein References for MIB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for MIB1 (Mind Bomb 1/MIB1)
  • Cell Signaling Technology (CST) Antibodies for MIB1 (MIB1)

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

Q86YT6

UniProtKB/Swiss-Prot:

MIB1_HUMAN :
  • Contains 2 MIB/HERC2 domains.
  • Contains 9 ANK repeats.
Domain:
  • Contains 2 MIB/HERC2 domains.
Similarity:
  • Contains 9 ANK repeats.
  • Contains 3 RING-type zinc fingers.
  • Contains 1 ZZ-type zinc finger.
genes like me logo Genes that share domains with MIB1: view

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.

Enzyme Numbers (IUBMB) for MIB1 Gene

Gene Ontology (GO) - Molecular Function for MIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 21903422
GO:0016874 ligase activity 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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for MIB1 Gene COMPARTMENTS Subcellular localization image for MIB1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 4
extracellular 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for MIB1 Gene

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 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:0001701 in utero embryonic development IEA --
GO:0001756 somitogenesis IEA --
GO:0001841 neural tube formation IEA --
GO:0001947 heart looping IEA --
GO:0045665 negative regulation of neuron differentiation 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
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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:

Inhibitory RNA Products

Flow Cytometry Products

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 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, MOPED, and MaxQB for MIB1 Gene



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.
genes like me logo Genes that share expression patterns with MIB1: view

Protein tissue co-expression partners for MIB1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia MIB1 35
  • 91.75 (n)
  • 99.6 (a)
MIB1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIB1 35
  • 94 (n)
  • 98.01 (a)
MIB1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mib1 35
  • 91.12 (n)
  • 99.3 (a)
Mib1 16
Mib1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MIB1 35
  • 99.44 (n)
  • 99.6 (a)
MIB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mib1 35
  • 91.12 (n)
  • 99.2 (a)
oppossum
(Monodelphis domestica)
Mammalia MIB1 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIB1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIB1 35
  • 86.28 (n)
  • 99.01 (a)
MIB1 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIB1 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mib1 35
  • 82.21 (n)
  • 96.42 (a)
Str.15052 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16510 35
zebrafish
(Danio rerio)
Actinopterygii mib 35
  • 76.69 (n)
  • 94.32 (a)
mib 36
  • 92 (a)
OneToMany
MIB1 (1 of 2) 36
  • 89 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011932 35
  • 61.24 (n)
  • 68.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta mib1 35
  • 66.14 (n)
  • 73.87 (a)
mib1 36
  • 58 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7778 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToOne
Species with no ortholog for MIB1:
  • 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
VAR_069385 -
rs200035428 Left ventricular non-compaction 7 (LVNC7) 21,858,593(+) CCAAT(G/T)TCAAT reference, missense
rs7449 -- 21,867,032(+) ACCCT(C/G)CTCAT utr-variant-3-prime
rs11905 -- 21,868,465(+) TGTCT(A/G)TTCAT utr-variant-3-prime
rs14062 -- 21,870,342(+) AGCAT(A/G)AGTGT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv909448 CNV Gain 21882294
nsv909450 CNV Gain 21882294
esv2716852 CNV Deletion 23290073
nsv2222 CNV Insertion 18451855
dgv3395n71 CNV Loss 21882294
nsv909453 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
MIB1
Human Gene Mutation Database (HGMD)
MIB1

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

Disorders for MIB1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
left ventricular noncompaction 7
  • left ventricular non-compaction 7
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
  • dehydrated hereditary stomatocytosis
conventional fibrosarcoma
frontal convexity meningioma
cerebral convexity meningioma
  • cerebral hemispheric convexity meningioma
- 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 67
  2. Mind bomb 1 regulation of cFLIP interactions. (PMID: 19710364) Zhang L. … Gallagher P.J. (Am. J. Physiol., Cell Physiol. 2009) 3 23
  3. A death-associated protein kinase (DAPK)-interacting protein, DIP-1, is an E3 ubiquitin ligase that promotes tumor necrosis factor-induced apoptosis and regulates the cellular levels of DAPK. (PMID: 12351649) Jin Y. … Gallagher P.J. (J. Biol. Chem. 2002) 3 23
  4. The E3 ubiquitin ligase Mib1 regulates Plk4 and centriole biogenesis. (PMID: 25795303) A8ajA!nek L. … Nigg E.A. (J. Cell. Sci. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for MIB1 Gene

Sources for MIB1 Gene

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