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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). [provided by RefSeq, Jun 2013]
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.
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 | -- |
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 | -- |
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 |
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 | -- |
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 |
|
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
left ventricular noncompaction 7 |
|
|
left ventricular noncompaction |
|
|
lymphoplasmacyte-rich meningioma |
|
|
microcystic meningioma |
|
|
diffuse meningeal melanocytosis |
|
|