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

    Gene ID: 29116, updated on 10-Dec-2024

    Summary

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    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

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    See MYLIP in Genome Data Viewer
    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_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16954 Neighboring gene CRISPRi-validated cis-regulatory element chr6.836 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:16064773-16065514 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:16065515-16066255 Neighboring gene Sharpr-MPRA regulatory region 5392 Neighboring gene MDH1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24096 Neighboring gene uncharacterized LOC124901514 Neighboring gene microRNA 4639 Neighboring gene PERP pseudogene 3 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1114, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. IDOL G51S Variant Is Associated With High Blood Cholesterol and Increases Low-Density Lipoprotein Receptor Degradation. Adi D, et al. Arterioscler Thromb Vasc Biol, 2019 Dec. PMID 31597442
    2. IDOL N342S Variant, Atherosclerosis Progression and Cardiovascular Disorders in the Italian General Population. Dhyani A, et al. PLoS One, 2015. PMID 25927920, Free PMC Article
    3. The MYLIP p.N342S polymorphism is associated with response to lipid-lowering therapy in Brazilian patients with familial hypercholesterolemia. Santos PC, et al. Pharmacogenet Genomics, 2014 Nov. PMID 25171759, Free PMC Article
    4. Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein. Sorrentino V, et al. Eur Heart J, 2013 May. PMID 23324548
    5. Association of MYLIP rs3757354 SNP and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Yan TT, et al. Lipids Health Dis, 2012 Oct 29. PMID 23107276, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS 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.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    XP_005249089.1
    XP_005249090.1
    XP_016866278.1
    XP_047274639.1
    XP_054211227.1
    XP_054211228.1
    XP_054211229.1
    XP_054211230.1

    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)

    1. 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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      16129086..16163887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      B2RBG2
      Related
      ENSP00000520754.1, ENST00000718320.1

    2. XM_047418683.1 → XP_047274639.1  E3 ubiquitin-protein ligase MYLIP isoform X3

      UniProtKB/TrEMBL
      B2RBG2

    3. 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

    4. 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)

    RNA

    1. XR_007059254.1 RNA Sequence

    2. XR_007059255.1 RNA Sequence

    3. XR_007059257.1 RNA Sequence

    4. XR_007059253.1 RNA Sequence

    5. XR_007059252.1 RNA Sequence

    6. XR_007059251.1 RNA Sequence

    7. XR_007059249.1 RNA Sequence

    8. XR_007059243.1 RNA Sequence

    9. XR_007059242.1 RNA Sequence

    10. XR_007059244.1 RNA Sequence

    11. XR_007059246.1 RNA Sequence

    12. XR_007059248.1 RNA Sequence

    13. XR_007059245.1 RNA Sequence

    14. XR_007059250.1 RNA Sequence

    15. XR_007059247.1 RNA Sequence

    16. XR_007059256.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      16001663..16037439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355252.1 → XP_054211227.1  E3 ubiquitin-protein ligase MYLIP isoform X1

      UniProtKB/TrEMBL
      B2RBG2

    2. XM_054355254.1 → XP_054211229.1  E3 ubiquitin-protein ligase MYLIP isoform X3

      UniProtKB/TrEMBL
      B2RBG2

    3. XM_054355253.1 → XP_054211228.1  E3 ubiquitin-protein ligase MYLIP isoform X2

      UniProtKB/TrEMBL
      B2RBG2

    4. XM_054355255.1 → XP_054211230.1  E3 ubiquitin-protein ligase MYLIP isoform X4

    RNA

    1. XR_008487310.1 RNA Sequence

    2. XR_008487313.1 RNA Sequence

    3. XR_008487314.1 RNA Sequence

    4. XR_008487315.1 RNA Sequence

    5. XR_008487312.1 RNA Sequence

    6. XR_008487311.1 RNA Sequence

    7. XR_008487308.1 RNA Sequence

    8. XR_008487302.1 RNA Sequence

    9. XR_008487301.1 RNA Sequence

    10. XR_008487303.1 RNA Sequence

    11. XR_008487305.1 RNA Sequence

    12. XR_008487307.1 RNA Sequence

    13. XR_008487304.1 RNA Sequence

    14. XR_008487309.1 RNA Sequence

    15. XR_008487306.1 RNA Sequence

    16. XR_008487317.1 RNA Sequence

    17. XR_008487316.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WY64.2 GenPept UniProtKB/Swiss-Prot:Q8WY64

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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