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MYLIP myosin regulatory light chain interacting protein [ Homo sapiens (human) ]

Gene ID: 29116, updated on 17-Jun-2019

Summary

Official Symbol
MYLIPprovided by HGNC
Official Full Name
myosin regulatory light chain interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:21155
See related
Ensembl:ENSG00000007944 MIM:610082
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIR; IDOL
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 with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in placenta (RPKM 42.5), bone marrow (RPKM 32.5) and 23 other tissues See more
Orthologs

Genomic context

See MYLIP in Genome Data Viewer
Location:
6p22.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (16129086..16151015)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (16129277..16148479)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2543 Neighboring gene malate dehydrogenase 1, NAD (soluble) pseudogene Neighboring gene microRNA 4639 Neighboring gene PERP, TP53 apoptosis effector pseudogene Neighboring gene uncharacterized LOC107986517

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • VLDL interactions, organism-specific biosystem (from REACTOME)
    VLDL interactions, organism-specific biosystemVery-low-density lipoprotein (VLDL) is a lipoprotein made by the liver (Gibbons et al. 2004) and is one of the five major groups of lipoproteins (chylomicrons, VLDL, LDL, IDL and HDL) that enable fat...
  • VLDLR internalisation and degradation, organism-specific biosystem (from REACTOME)
    VLDLR internalisation and degradation, organism-specific biosystemThe steps involved in proprotein convertase PCSK9-induced degradation of VLDLR are described here (Poirier et al. 2008).

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
 
low-density lipoprotein particle receptor catabolic process TAS
Traceable Author Statement
more info
 
negative regulation of low-density lipoprotein particle clearance IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
protein destabilization IEA
Inferred from Electronic Annotation
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of low-density lipoprotein particle receptor catabolic process IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase MYLIP
Names
E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor
RING-type E3 ubiquitin transferase MYLIP
band 4.1 superfamily member BZF1
cellular modulator of immune recognition (c-MIR)
inducible degrader of the LDL-receptor
NP_037394.2
XP_005249089.1
XP_005249090.1
XP_016866278.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013262.4NP_037394.2  E3 ubiquitin-protein ligase MYLIP

    See identical proteins and their annotated locations for NP_037394.2

    Status: REVIEWED

    Source sequence(s)
    AF212221, AK026739, AK074391
    Consensus CDS
    CCDS4536.1
    UniProtKB/Swiss-Prot
    Q8WY64
    Related
    ENSP00000349298.3, ENST00000356840.8
    Conserved Domains (3) summary
    smart00295
    Location:5190
    B41; Band 4.1 homologues
    cd13195
    Location:185295
    FERM_C_MYLIP_IDOL; FERM domain C-lobe of E3 ubiquitin ligase myosin regulatory light chain-interacting protein (MYLIP; also called inducible degrader of the LDL receptor, IDOL)
    cd16523
    Location:386423
    RING-HC_MYLIP; RING finger, HC subclass, found in myosin regulatory light chain interacting protein (MYLIP) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    16129086..16151015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010789.1XP_016866278.1  E3 ubiquitin-protein ligase MYLIP isoform X1

  2. XM_005249032.2XP_005249089.1  E3 ubiquitin-protein ligase MYLIP isoform X2

    Conserved Domains (5) summary
    smart00295
    Location:5190
    B41; Band 4.1 homologues
    pfam00373
    Location:85190
    FERM_M; FERM central domain
    pfam09379
    Location:567
    FERM_N; FERM N-terminal domain
    pfam13920
    Location:328373
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    cl17171
    Location:185240
    PH-like; Pleckstrin homology-like domain
  3. XM_005249033.3XP_005249090.1  E3 ubiquitin-protein ligase MYLIP isoform X3

    See identical proteins and their annotated locations for XP_005249090.1

    UniProtKB/TrEMBL
    Q5TIA5
    Related
    ENSP00000008686.5, ENST00000349606.4
    Conserved Domains (2) summary
    cd13195
    Location:4114
    FERM_C_MYLIP_IDOL; FERM domain C-lobe of E3 ubiquitin ligase myosin regulatory light chain-interacting protein (MYLIP; also called inducible degrader of the LDL receptor, IDOL)
    pfam13920
    Location:202247
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
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