MKLN1 (muskelin 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4289 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Muskelin 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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MKLN1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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TWA2 |
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Chromosome
Chromosome number
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7 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7q32.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008] |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||||||||||||
| UniProt ID | Q9UL63 | ||||||||||||||||||||
| Protein name | Muskelin | ||||||||||||||||||||
| Protein function | Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Required for internali | ||||||||||||||||||||
| PDB | 8TTQ | ||||||||||||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 735 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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