MIB1 MIB E3 ubiquitin protein ligase 1
Gene ID: 57534, updated on 27-Aug-2024Gene type: protein coding
Also known as: MIB; DIP1; ZZZ6; DIP-1; LVNC7; ZZANK2
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- Go to complete Gene record for MIB1
- Go to Variation Viewer for MIB1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Left ventricular noncompaction 7 | See labs |
Genomic context
- Location:
- 18q11.2
- Sequence:
- Chromosome: 18; NC_000018.10 (21704916..21870953)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MIB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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