MYLIP (myosin regulatory light chain interacting protein)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 29116
Gene name Myosin regulatory light chain interacting protein
Gene symbol MYLIP
Synonyms (NCBI Gene)
IDOLMIR
Chromosome 6
Chromosome location 6p22.3
Summary The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts
miRNA miRNA information provided by mirtarbase database.
1861
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1861)
miRTarBase ID miRNA Experiments Reference
MIRT001838 hsa-miR-106a-5p Luciferase reporter assay 17575136
MIRT004066 hsa-miR-19b-3p Luciferase reporter assay 17575136
MIRT001783 hsa-miR-20b-5p Luciferase reporter assay 17575136
MIRT004091 hsa-miR-92a-3p Luciferase reporter assay 17575136
MIRT001838 hsa-miR-106a-5p Luciferase reporter assay 17575136
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 14550572
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 12826659, 21516116, 25416956, 29892012, 31515488, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610082 21155 ENSG00000007944
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WY64
Protein name E3 ubiquitin-protein ligase MYLIP (EC 2.3.2.27) (Inducible degrader of the LDL-receptor) (Idol) (Myosin regulatory light chain interacting protein) (MIR) (RING-type E3 ubiquitin transferase MYLIP)
Protein function E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC le
PDB 2YHN , 2YHO , 6QLY , 6QLZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 5 → 68 FERM N-terminal domain Domain
PF00373 FERM_M 83 → 190 FERM central domain Domain
PF09380 FERM_C 194 → 282 FERM C-terminal PH-like domain Domain
PF13920 zf-C3HC4_3 383 → 428 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10593918}.
Sequence
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cholesterol metabolism   VLDLR internalisation and degradation
NR1H2 & NR1H3 regulate gene expression to limit cholesterol uptake
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs1060901, rs200099792 RCV005928113
RCV005934977
Colorectal cancer Benign; Likely benign rs1060901 RCV005928114
MYLIP-related disorder Uncertain significance rs112824443 RCV003962327
Thymoma Benign; Likely benign rs1060901 RCV005928115
Show/Hide Text Mining Associations (22)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32031203, 34061466
Atherosclerosis Associate 21765216, 25927920
Azoospermia Nonobstructive Inhibit 24842676
Carcinoma Non Small Cell Lung Associate 24293999
Cardiovascular Diseases Associate 25927920
Coronary Artery Disease Associate 22741812, 26153245, 33845890
Diabetes Mellitus Inhibit 37094639
Dyslipidemias Associate 21765216, 25171759
Hyperlipidemias Associate 32868861
Hyperlipoproteinemia Type II Associate 25171759