Mylip myosin regulatory light chain interacting protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mylipprovided by MGI
Official Full Name: myosin regulatory light chain interacting proteinprovided by MGI
Primary source: MGI:MGI:2388271
See related: Ensembl:ENSMUSG00000038175 AllianceGenome:MGI:2388271
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mir; 9430057C20Rik
Summary: Enables ubiquitin protein ligase activity. Involved in several processes, including cholesterol homeostasis; negative regulation of low-density lipoprotein particle clearance; and regulation of protein catabolic process. Predicted to be located in cytoplasm; cytoskeleton; and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Orthologous to human MYLIP (myosin regulatory light chain interacting protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 23.3), mammary gland adult (RPKM 20.8) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A5; 13 21.88 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (45543197..45565498)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (45389742..45411940)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatic Idol expression has a role in the development of diet induced obesity and metabolic syndrome in mice.
Title: Inactivation of the E3 Ubiquitin Ligase IDOL Attenuates Diet-Induced Obesity and Metabolic Dysfunction in Mice.
describe the recently generated mouse model, L-sIDOL Tg mice, which express a dominant active form of Inducible Degrader Of the Low-density lipoprotein receptor (IDOL) in a liver-specific manner. This murine model offers significant advantages over previously established models for the study of hypercholesterolemia and atherosclerosis.
Title: The Use of L-sIDOL Transgenic Mice as a Murine Model to Study Hypercholesterolemia and Atherosclerosis.
the effects caused by human inducible degrader of the low-density lipoprotein expression are LDLR- dependent given the unchanged plasma lipids in LAhB mice lacking low-density lipoprotein receptor
Title: Stable liver-specific expression of human IDOL in humanized mice raises plasma cholesterol.
Suggest Idol as a gatekeeper of LDLR-dependent ApoE and Abeta clearance in the brain and a potential enzyme target for therapeutic intervention in Alzheimer disease.
Title: The E3 ubiquitin ligase Idol controls brain LDL receptor expression, ApoE clearance, and Aβ amyloidosis.
Estradiol-treatment led to impaired contractile function in male cardiomyocytes only, which was characterized by increased Mylip mRNA and protein levels, and decreased myosin regulatory light chain protein.
Title: Transcriptome characterization of estrogen-treated human myocardium identifies myosin regulatory light chain interacting protein as a sex-specific element influencing contractile function.
These data identify the IDOL-LDLR interaction as an evolutionarily conserved mechanism for the regulation of lipid uptake and suggest that this interaction could potentially be exploited for the pharmacologic modulation of lipid metabolism.
Title: FERM-dependent E3 ligase recognition is a conserved mechanism for targeted degradation of lipoprotein receptors.
Data show that NPC1 deficiency has a major impact on VLDL metabolism in Apoe(-/-) mice through modulation of hepatic LDL-R protein levels, and a modest one on Pcsk9 and Idol induction.
Title: Reduced VLDL clearance in Apoe(-/-)Npc1(-/-) mice is associated with increased Pcsk9 and Idol expression and decreased hepatic LDL-receptor levels.
Data show that the identification of VLDLR and ApoER2 as Idol(Mylip) targets suggests potential roles for this LXR-inducible E3 ligase in the central nervous system in addition to lipid metabolism.
Title: The E3 ubiquitin ligase IDOL induces the degradation of the low density lipoprotein receptor family members VLDLR and ApoER2.
study shows the LXR-Idol(Mylip)-LDLR axis defines a complementary pathway to sterol response element-binding proteins for sterol regulation of cholesterol uptake
Title: LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14205 (e-PCR)
- UniSTS:66586

Mylip (e-PCR), detects polymorphism
- UniSTS:546876

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytoskeletal protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to low-density lipoprotein particle stimulus	IC Inferred by Curator more info	PubMed
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of low-density lipoprotein particle clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein destabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of low-density lipoprotein particle receptor catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase MYLIP

Names: RING-type E3 ubiquitin transferase MYLIP; idol; inducible degrader of the LDL-receptor

NP_722484.2

EC 2.3.2.27

XP_036013884.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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)

NM_153789.3 → NP_722484.2 E3 ubiquitin-protein ligase MYLIP

See identical proteins and their annotated locations for NP_722484.2

Status: PROVISIONAL

Source sequence(s)

AC154521

Consensus CDS

CCDS36648.1

UniProtKB/Swiss-Prot

Q3TX01, Q8BLY9, Q8BM54, Q91Z47

UniProtKB/TrEMBL

Q3TAE7

Related

ENSMUSP00000047403.10, ENSMUST00000038275.11

Conserved Domains (5) summary

smart00295
Location:5 → 190

B41; Band 4.1 homologues

cd13195
Location:185 → 295

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)

pfam00373
Location:85 → 190

FERM_M; FERM central domain

pfam09379
Location:5 → 67

FERM_N; FERM N-terminal domain

pfam13920
Location:383 → 428

zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

45543197..45565498

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157991.1 → XP_036013884.1 E3 ubiquitin-protein ligase MYLIP isoform X1

Conserved Domains (2) summary

cd13195
Location:4 → 114

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:205 → 242

RING-HC_MYLIP; RING finger, HC subclass, found in myosin regulatory light chain interacting protein (MYLIP) and similar proteins