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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
External Ids for MIB1 Gene
- HGNC: 21086
- Entrez Gene: 57534
- Ensembl: ENSG00000101752
- OMIM: 608677
- UniProtKB: Q86YT6
Previous GeneCards Identifiers for MIB1 Gene
- GC18P017574
- GC18P017575
- GC18P019321
- GC18P016168
- GC18P019284
Summaries 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 Signaling by GPCR and Notch Signaling Pathway (WikiPathways). 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.
Additional gene information for MIB1 Gene
- HGNC(21086)
- Entrez Gene(57534)
- Ensembl(ENSG00000101752)
- OMIM(608677)
- UniProtKB(Q86YT6)
- Open Targets Platform(ENSG00000101752)
- Monarch Initiative
- Search for MIB1 at DataMed
- Search for MIB1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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:
-
- 18q11.2 by HGNC
- 18q11.2 by Entrez Gene
- 18q11.2 by Ensembl
MIB1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- 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};
- Miscellaneous:
-
- In epilepsy brain tissue, levels of expression are increased in the cytoplasm and microsomal fractions (endoplasmic reticulum).
Protein Expression 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
- NX_Q86YT6 (NX_Q86YT6-1)
- Modification sites at PhosphoSitePlus
Other Protein References for MIB1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ MIB1 Antibody
- NSJ Bioreagents Mib1 Antibody (Mindbomb)
-
Custom Antibody ServicesOriGene Antibodies for MIB1
- Novus Biologicals Antibodies for MIB1
-
Abcam antibodies for MIB1
- Invitrogen Antibodies for MIB1 (AFLGC-MIB1)
- antibodies-online: Show 147 available MIB1 Antibodies ranked by validation data
-
Custom Antibody ServicesProSci Antibodies for MIB1
-
Santa Cruz Biotechnology (SCBT) Antibodies for MIB1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for MIB1
- Origene Custom Protein Services for MIB1
- antibodies-online: Search results for available MIB1 related products ranked by validation data
-
Signalway Proteins for MIB1
-
Abcam proteins 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
- InterPro:
- Blocks:
-
- Zn-finger, RING
- Ankyrin repeat signature
- Zn-finger, ZZ type
- 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)
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 21903422 |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for MIB1 Gene
- MGI mutant phenotypes for MIB1:
-
inferred from 4 alleles
- nervous system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for MIB1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased viability
- shRNA abundance <= 25%
- Increased ionizing radiation sensitivity
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MIB1 - Select products 50% OFF >
- * MIB1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MIB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MIB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MIB1
miRNA for MIB1 Gene
- miRTarBase miRNAs that target MIB1
-
- hsa-miR-210-3p (MIRT003176)
- hsa-miR-215-5p (MIRT024481)
- hsa-miR-192-5p (MIRT026726)
- hsa-miR-103a-3p (MIRT027205)
- hsa-miR-21-5p (MIRT030987)
- hsa-miR-16-5p (MIRT031932)
- hsa-miR-193b-3p (MIRT041392)
- hsa-let-7b-5p (MIRT052189)
- hsa-let-7a-5p (MIRT052585)
- hsa-miR-541-5p (MIRT440243)
- hsa-miR-374a-5p (MIRT440244)
- hsa-miR-6885-3p (MIRT535942)
- hsa-miR-7151-3p (MIRT535943)
- hsa-miR-5095 (MIRT535944)
- hsa-miR-3619-3p (MIRT535945)
- hsa-miR-3140-3p (MIRT535946)
- hsa-miR-4700-3p (MIRT535947)
- hsa-miR-335-3p (MIRT547412)
- hsa-miR-889-3p (MIRT547413)
- hsa-miR-5579-5p (MIRT547414)
- hsa-miR-590-3p (MIRT547415)
- hsa-miR-5583-3p (MIRT547416)
- hsa-miR-4517 (MIRT547417)
- hsa-miR-4753-3p (MIRT667400)
- hsa-miR-1236-3p (MIRT667401)
- hsa-miR-6515-3p (MIRT667402)
- hsa-miR-4636 (MIRT667403)
- hsa-miR-30d-5p (MIRT727191)
- hsa-miR-30e-5p (MIRT727192)
- hsa-miR-30c-5p (MIRT727193)
- hsa-miR-30b-5p (MIRT727194)
- hsa-miR-30a-5p (MIRT727195)
- hsa-miR-195-5p (MIRT727196)
- hsa-miR-15b-5p (MIRT727197)
- hsa-miR-15a-5p (MIRT727198)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MIB1
- Browse OriGene Inhibitory RNA Products For MIB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIB1
Clone Products
- Applied Biological Materials (abm): Clones for MIB1 - Select products 50% OFF >
- * MIB1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MIB1
- Addgene plasmids for MIB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MIB1
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Plasma membrane (3)
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for MIB1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by NOTCH1 | ||
| 2 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
| 3 | Notch Signaling Pathway (WikiPathways) | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Wnt / Hedgehog / Notch | ||
Pathways by source for MIB1 Gene
1 BioSystems pathway for MIB1 Gene
15 Reactome pathways for MIB1 Gene
1 R&D Systems pathway 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.
Interacting Proteins for MIB1 Gene
Selected Interacting proteins:
Q86YT6-MIB1_HUMAN
ENSP00000261537
for MIB1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MIB1
| 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 | -- |
Drugs & Compounds for MIB1 Gene
| 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, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
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 :
-
- ENST00000261537 9576 nts (view in UCSC)
- ENST00000577749 726 nts (view in UCSC)
- ENST00000578260 544 nts (view in UCSC)
- ENST00000578646 3306 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MIB1 - Select products 50% OFF >
- * MIB1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MIB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MIB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MIB1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MIB1
- Browse OriGene Inhibitory RNA Products For MIB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIB1
Clone Products
- Applied Biological Materials (abm): Clones for MIB1 - Select products 50% OFF >
- * MIB1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MIB1
- Addgene plasmids for MIB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MIB1
Relevant External Links for MIB1 Gene
- GeneLoc Exon Structure for
- MIB1
Expression for MIB1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MIB1
SOURCE GeneReport for Unigene cluster for MIB1 Gene:
Hs.140903mRNA 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(4.7)
- Lung(4.4)
- Liver(4.3)
- Eye(2.1)
- Muscle(2.1)
- Kidney(2.1)
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
Primer Products
-
OriGene qPCR primer pairs for MIB1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for MIB1 Gene
Orthologs for MIB1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Oppossum (Monodelphis domestica) |
Mammalia | MIB1 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | MIB1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MIB1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MIB1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mib1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mib1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MIB1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MIB1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MIB1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mib1 30 |
|
||
| Str.15052 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16510 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | MIB1 (1 of 2) 31 |
|
OneToMany | |
| mib 30 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | mib1 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011932 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7778 30 |
|
- Species where no ortholog for MIB1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
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 | ||
| 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2716852 | CNV | deletion | 23290073 |
| esv3641942 | CNV | loss | 21293372 |
| nsv2222 | CNV | insertion | 18451855 |
| nsv954136 | CNV | deletion | 24416366 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIB1 Gene
Disorders for MIB1 Gene
(11) MalaCards diseases for MIB1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| left ventricular noncompaction 7 |
|
|
| left ventricular noncompaction |
|
|
| lymphoplasmacyte-rich meningioma |
|
|
| microcystic meningioma |
|
|
| diffuse meningeal melanocytosis |
|
|
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
No data available for Genatlas for MIB1 Gene
Publications for MIB1 Gene
- 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
- 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
- Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PMID: 21903422) Li S … Dorf ME (Immunity 2011) 3 4
- Mind bomb 1 regulation of cFLIP interactions. (PMID: 19710364) Zhang L … Gallagher PJ (American journal of physiology. Cell physiology 2009) 3 23
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
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