• Gene id: 29116

Gene Summary

• Gene Symbol: MYLIP   Gene   UCSC   Ensembl
• Aliases: IDOL, MIR
• Gene name: myosin regulatory light chain interacting protein
• Alternate names: E3 ubiquitin-protein ligase MYLIP, 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 ,
• Gene location: 6p22.3 (16129085: 16151014)     Exons: 19     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 610082

Protein Summary

• Protein general information: Q8WY64  
  • Name: E3 ubiquitin protein ligase MYLIP (EC 2.3.2.27) (Inducible degrader of the LDL receptor) (Idol) (Myosin regulatory light chain interacting protein) (MIR) (RING type E3 ubiquitin transferase MYLIP)
  • Length: 445  
  • Mass: 49910
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MLCYVTRPDAVLMEVEVEAKANGEDCLNQVCRRLGIIEVDYFGLQFTGSKGESLWLNLRNRISQQMDGLAPYRLK
  LRVKFFVEPHLILQEQTRHIFFLHIKEALLAGHLLCSPEQAVELSALLAQTKFGDYNQNTAKYNYEELCAKELSS
  ATLNSIVAKHKELEGTSQASAEYQVLQIVSAMENYGIEWHSVRDSEGQKLLIGVGPEGISICKDDFSPINRIAYP
  VVQMATQSGKNVYLTVTKESGNSIVLLFKMISTRAASGLYRAITETHAFYRCDTVTSAVMMQYSRDLKGHLASLF
  LNENINLGKKYVFDIKRTSKEVYDHARRALYNAGVVDLVSRNNQSPSHSPLKSSESSMNCSSCEGLSCQQTRVLQ
  EKLRKLKEAMLCMVCCEEEINSTFCPCGHTVCCESCAAQLQSCPVCRSRVEHVQHVYLPTHTSLLNLTVI

• Structural information:
  • Protein Domains: (1..27-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR019749  IPR000798  IPR014352  IPR035963  IPR019748   IPR000299  IPR018979  IPR018980  IPR041790  IPR011993  IPR029071  IPR001841  IPR013083  
  • Prosite: PS50057 PS50089
  • CDD: cd14473 cd13195
  • PDB: 2YHN 2YHO
  • PDBsum: 2YHN 2YHO
  • STRING: ENSP00000349298
• Other Databases: GeneCards:  MYLIP  Malacards:  MYLIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0004842	ubiquitin-protein transferase activity	IBA	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0032802	low-density lipoprotein particle receptor catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0031648	protein destabilization	IEA	biological process
GO:0032803	regulation of low-density lipoprotein particle receptor catabolic process	IEA	biological process
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0045732	positive regulation of protein catabolic process	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0010989	negative regulation of low-density lipoprotein particle clearance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0008092	cytoskeletal protein binding	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0010977	negative regulation of neuron projection development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007399	nervous system development	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04979	Cholesterol metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881