MYLIP (myosin regulatory light chain interacting protein)

2014-11-01  

Identity

HGNC
MYLIP
LOCATION
6p22.3
LOCUSID
29116
ALIAS
IDOL,MIR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29116
MIM: 610082
HGNC: 21155
Ensembl: ENSG00000007944

Variants:

dbSNP: 29116
ClinVar: 29116
TCGA: ENSG00000007944
COSMIC: MYLIP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000007944ENST00000349606Q5TIA5
ENSG00000007944ENST00000356840Q8WY64

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
VLDL interactionsREACTOMER-HSA-8855121
VLDLR internalisation and degradationREACTOMER-HSA-8866427

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444516HypercholesterolemiaDiseaseClinicalAnnotationassociatedPD25171759
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD25171759

References

Pubmed IDYearTitleCitations
195209132009LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor.258
208646722010Genetic variants influencing circulating lipid levels and risk of coronary artery disease.180
199362222009Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.151
167855302006Inhibition of MHC class II expression and immune responses by c-MIR.53
203472652010MicroRNAs and target site screening reveals a pre-microRNA-30e variant associated with schizophrenia.34
216853622011The IDOL-UBE2D complex mediates sterol-dependent degradation of the LDL receptor.32
222611642012Transcriptome characterization of estrogen-treated human myocardium identifies myosin regulatory light chain interacting protein as a sex-specific element influencing contractile function.28
233820782013IDOL stimulates clathrin-independent endocytosis and multivesicular body-mediated lysosomal degradation of the low-density lipoprotein receptor.28
223787872012Fibroblast growth factor-21 (FGF21) regulates low-density lipoprotein receptor (LDLR) levels in cells via the E3-ubiquitin ligase Mylip/Idol and the Canopy2 (Cnpy2)/Mylip-interacting saposin-like protein (Msap).25
128266592003MSAP is a novel MIR-interacting protein that enhances neurite outgrowth and increases myosin regulatory light chain.21

Citation

Dessen P

MYLIP (myosin regulatory light chain interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70619/mylip