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 NOTCH2 Activation and Transmission of Signal to the Nucleus and HIV Life Cycle. 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 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
- Monarch Initiative
- Search for MIB1 at DataMed
- Search for MIB1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
- Top Transcription factor binding sites by QIAGEN in the MIB1 gene promoter:
-
- p53
- STAT3
- Pax-5
- Msx-1
- p300
- Pax-4a
- ATF
- c-Ets-1
- YY1
Regulatory Element Products
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 Entrez Gene
- 18q11.2 by HGNC
- 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.
- 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};
Protein Expression for MIB1 Gene
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 posLast=949949, isoforms=938, isoforms=917, isoforms=854, isoforms=787, isoforms=772, isoforms=750, posLast=735735, posLast=726726, isoforms=691, posLast=618618, isoforms=485, isoforms=452, posLast=437437, posLast=421421, posLast=399399, isoforms=368, isoforms=313, posLast=222222, isoforms=202, isoforms=79, and posLast=2828
- 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)
-
Custom Antibody ServicesOriGene Antibodies for MIB1
- Novus Biologicals Antibodies for MIB1
-
Abcam antibodies for MIB1
- Invitrogen Antibodies for MIB1 (AFLGC-MIB1)
- antibodies-online: Search results for available mib related products ranked by validation data
- GeneTex MIB1 Antibody for MIB1
-
Boster Bio Antibodies for MIB1
-
Custom Antibody ServicesProSci Antibodies for MIB1
-
Santa Cruz Biotechnology (SCBT) Antibodies for MIB1
Protein Products
-
OriGene Purified Proteins for MIB1
- Search Origene for MassSpec and Protein Over-expression Lysates for MIB1
- Origene Custom Protein Services for MIB1
- antibodies-online: Search results for available mib related products ranked by validation data
- Search GeneTex for Proteins for MIB1
-
Abcam proteins for MIB1
No data available for DME Specific Peptides for MIB1 Gene
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
Suggested Antigen Peptide Sequences for MIB1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for 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:
- 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.
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 | TAS | -- |
| 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
- cardiovascular system phenotype
- limbs/digits/tail phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- no phenotypic analysis
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hematopoietic system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for MIB1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MIB1
-
CRISPR Products
-
OriGene CRISPR knockouts for MIB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MIB1
- genomics-online: gRNA clones - Search results for available mib gene related products
- Applied Biological Materials CRISPR for MIB1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MIB1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for available mib gene related products
Clone Products
- 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
- genomics-online: cdna clones - Search results for available mib gene related products
- orf clones - Search results for available mib gene related products
- Applied Biological Materials Clones for MIB1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
| mitochondrion | 1 |
- Nuclear membrane (2)
- Plasma membrane (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| 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 (KEGG) | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Wnt / Hedgehog / Notch | ||
Pathways by source for MIB1 Gene
1 GeneTex pathway for MIB1 Gene
1 BioSystems pathway for MIB1 Gene
1 R&D Systems pathway for MIB1 Gene
1 Cell Signaling Technology 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
STRING
MINT
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 | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Drug Products
Transcripts for MIB1 Gene
mRNA/cDNA for MIB1 Gene
- (5) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (31) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000578646 3306 bps (uc060nut.1)
- ENST00000261537 9576 bps (uc002ktq.5)
- ENST00000577749 726 bps (uc060nuy.1)
- ENST00000578260 544 bps (uc060nuz.1)
Unigene Clusters for MIB1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for MIB1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MIB1
- genomics-online: gRNA clones - Search results for available mib gene related products
- Applied Biological Materials CRISPR for MIB1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MIB1
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for available mib gene related products
Clone Products
- 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
- genomics-online: cdna clones - Search results for available mib gene related products
- orf clones - Search results for available mib gene related products
- Applied Biological Materials Clones for MIB1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of MIB1 Gene:
MIB1SOURCE 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(4.6)
- 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
Primer Products
-
OriGene qPCR primer pairs for MIB1
- genomics-online: primer clones - Search results for available mib gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| oppossum (Monodelphis domestica) |
Mammalia | MIB1 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | MIB1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MIB1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MIB1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mib1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mib1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MIB1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MIB1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MIB1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mib1 33 |
|
||
| Str.15052 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16510 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | MIB1 (1 of 2) 34 |
|
OneToMany | |
| mib 34 33 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | mib1 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011932 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| Cin.7778 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7778 33 |
|
- 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
Variants for MIB1 Gene
| SNP ID | Clin | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs200035428 | pathogenic, Left ventricular noncompaction 7, Left ventricular non-compaction 7 (LVNC7) [MIM:615092] | 21,858,593(+) | G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs201850378 | pathogenic, uncertain-significance, Left ventricular noncompaction 7, not specified | 21,815,724(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
| rs730880134 | uncertain-significance, Primary familial hypertrophic cardiomyopathy | 21,779,535(+) | A/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs730880135 | uncertain-significance, Primary familial hypertrophic cardiomyopathy, not specified | 21,799,925(+) | A/C/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs757096307 | uncertain-significance, Paroxysmal atrial fibrillation | 21,779,519(+) | A/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_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
(9) MalaCards diseases for MIB1 Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| left ventricular noncompaction 7 |
|
|
| left ventricular noncompaction |
|
|
| lymphoplasmacyte-rich meningioma |
|
|
| juxtacortical chondroma |
|
|
| optic nerve neoplasm |
|
|
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
- 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 58
- 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 58
- Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PMID: 21903422) Li S … Dorf ME (Immunity 2011) 3 4 58
- Mind bomb 1 regulation of cFLIP interactions. (PMID: 19710364) Zhang L … Gallagher PJ (American journal of physiology. Cell physiology 2009) 3 22 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
Products for MIB1 Gene
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- Browse Human Proteins and Enzymes
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- Browse Proteins and Enzymes
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- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for MIB1
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- Browse OriGene Inhibitory RNA Products For MIB1
- OriGene qPCR primer pairs for MIB1
- OriGene CRISPR knockouts for MIB1
- OriGene ORF clones in human for MIB1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MIB1
- GenScript: Next-day shipping of latest version cDNA ORF clones for MIB1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for MIB1
- GenScript Custom Assay Services for MIB1
- GenScript Custom overexpressing Cell Line Services for MIB1
- GenScript: Design CRISPR guide RNA sequences for MIB1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for MIB1
- Sino Biological Human cDNA Clone for MIB1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MIB1
- Novus Biologicals proteins and lysates for MIB1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MIB1
- Abcam proteins for MIB1
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for MIB1 (AFLGC-MIB1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for MIB1
- Addgene plasmids for MIB1
- antibodies-online: Search results for available mib related products ranked by validation data
- antibodies-online: Search results for available mib related products ranked by validation data
- antibodies-online: Search results for available mib related products ranked by validation data
- GeneTex MIB1 Antibody for MIB1
- Search GeneTex for Proteins for MIB1
- Santa Cruz Biotechnology (SCBT) Antibodies for MIB1
- Search Santa Cruz Biotechnology (SCBT) for MIB1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MIB1
- Custom Antibody ServicesProSci Antibodies for MIB1
- Search for MIB1 Proteins at ProSci
- Horizon Cell Lines for MIB1
- genomics-online: cdna clones - Search results for available mib gene related products
- orf clones - Search results for available mib gene related products
- genomics-online: gRNA clones - Search results for available mib gene related products
- genomics-online: primer clones - Search results for available mib gene related products
- genomics-online: shRNA clones - Search results for available mib gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MIB1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MIB1
- GeneCopoeia miRNA 3'UTR Target clone products for MIB1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIB1
- Boster Bio Antibodies for MIB1
- Browse Boster Bio ELISA Kits
Sources for MIB1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt