MYLIP (myosin regulatory light chain interacting protein)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29116
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin regulatory light chain interacting protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYLIP
Synonyms (NCBI Gene) Gene synonyms aliases
IDOL, MIR
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination TAS
GO:0004842 Function Ubiquitin-protein transferase activity IBA 21873635
GO:0004842 Function Ubiquitin-protein transferase activity IDA 14550572
GO:0005515 Function Protein binding IPI 12826659, 21516116, 25416956, 29892012, 31515488, 32296183, 32814053
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610082 21155 ENSG00000007944
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Hypobetalipoproteinemia NON RARE IN EUROPE: Familial hypobetalipoproteinemia rs281865425, rs397514255, rs121918383, rs121918384, rs121918385, rs121918386, rs387906569, rs397514256, rs121918387, rs121918389, rs121918390, rs587776852, rs1572800245, rs606231236, rs797045253
View all (9 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis 20864642 ClinVar
Show/Hide Text Mining Associations (22)
Associations from Text Mining
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