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

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; AllianceGenome:HGNC:21155
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: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (16129086..16163887)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (16001663..16037439)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (16129317..16148479)

Chromosome 6 - NC_000006.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RP1-13D10.2 is a long noncoding RNA that regulates LDLR and may contribute to low-density lipoprotein cholesterol response to statin treatment.
Title: RP1-13D10.2 Is a Novel Modulator of Statin-Induced Changes in Cholesterol.
Effect of type 2 diabetes on the inducible degrader of LDL receptor.
Title: Effect of type 2 diabetes on the inducible degrader of LDL receptor.
Mouse Spinal Cord Vascular Transcriptome Analysis Identifies CD9 and MYLIP as Injury-Induced Players.
Title: Mouse Spinal Cord Vascular Transcriptome Analysis Identifies CD9 and MYLIP as Injury-Induced Players.
Genetic polymorphism of IDOL gene was associated with the susceptibility of coronary artery disease in Han population in Xinjiang, China.
Title: Genetic polymorphism of IDOL gene was associated with the susceptibility of coronary artery disease in Han population in Xinjiang, China.
Identification of MYLIP gene and miRNA-802 involved in the growth and metastasis of cervical cancer cells.
Title: Identification of MYLIP gene and miRNA-802 involved in the growth and metastasis of cervical cancer cells.
Novel associations of SNPs MYLIP rs3757354 and ABCA1 2230806 gene with early-onset-preeclampsia: A case-control candidate genetic study.
Title: Novel associations of SNPs MYLIP rs3757354 and ABCA1 2230806 gene with early-onset-preeclampsia: A case-control candidate genetic study.
SUMOylation of the ubiquitin ligase IDOL decreases LDL receptor levels and is reversed by SENP1.
Title: SUMOylation of the ubiquitin ligase IDOL decreases LDL receptor levels and is reversed by SENP1.
IDOL gene variant is associated with hyperlipidemia in Han population in Xinjiang, China.
Title: IDOL gene variant is associated with hyperlipidemia in Han population in Xinjiang, China.
Structural analysis of the LDL receptor-interacting FERM domain in the E3 ubiquitin ligase IDOL reveals an obscured substrate-binding site.
Title: Structural analysis of the LDL receptor-interacting FERM domain in the E3 ubiquitin ligase IDOL reveals an obscured substrate-binding site.
IDOL(G51S) is a gain-of-function variant responsible for high LDL-C in both humans and mice. These results suggest that IDOL is a key player regulating cholesterol level in humans.
Title: IDOL G51S Variant Is Associated With High Blood Cholesterol and Increases Low-Density Lipoprotein Receptor Degradation.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

A004C26 (e-PCR)
- UniSTS:45372

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytoskeletal protein binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of low-density lipoprotein particle clearance	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein destabilization	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of low-density lipoprotein particle receptor catabolic process	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement 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: 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

EC 2.3.2.27

XP_005249089.1

EC 2.3.2.27

XP_005249090.1

EC 2.3.2.27

XP_016866278.1

EC 2.3.2.27

XP_047274639.1

EC 2.3.2.27

XP_054211227.1

EC 2.3.2.27

XP_054211228.1

EC 2.3.2.27

XP_054211229.1

EC 2.3.2.27

XP_054211230.1

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_013262.4 → NP_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

Q5TIA4, Q8WY64, Q9BU73, Q9NRL9, Q9UHE7

UniProtKB/TrEMBL

B2RBG2

Related

ENSP00000349298.3, ENST00000356840.8

Conserved Domains (3) 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)

cd16523
Location:386 → 423

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

16129086..16163887

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010789.2 → XP_016866278.1 E3 ubiquitin-protein ligase MYLIP isoform X1

UniProtKB/TrEMBL

B2RBG2

Related

ENSP00000520754.1, ENST00000718320.1
XM_047418683.1 → XP_047274639.1 E3 ubiquitin-protein ligase MYLIP isoform X3
XM_005249032.2 → XP_005249089.1 E3 ubiquitin-protein ligase MYLIP isoform X2

UniProtKB/TrEMBL

B2RBG2

Related

ENSP00000520755.1, ENST00000718321.1

Conserved Domains (5) summary

smart00295
Location:5 → 190

B41; Band 4.1 homologues

pfam00373
Location:85 → 190

FERM_M; FERM central domain

pfam09379
Location:5 → 67

FERM_N; FERM N-terminal domain

pfam13920
Location:328 → 373

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

cl17171
Location:185 → 240

PH-like; Pleckstrin homology-like domain
XM_005249033.4 → XP_005249090.1 E3 ubiquitin-protein ligase MYLIP isoform X4

See identical proteins and their annotated locations for XP_005249090.1

UniProtKB/TrEMBL

A6NHZ0, Q5TIA5

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)

pfam13920
Location:202 → 247

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