• Gene id: 90523

Gene Summary

• Gene Symbol: MLIP   Gene   UCSC   Ensembl
• Aliases: C6orf142, CIP
• Gene name: muscular LMNA interacting protein
• Alternate names: muscular LMNA-interacting protein, cardiac ISL1-interacting protein, muscle-enriched A-type lamin interacting protein, muscular-enriched A-type laminin-interacting protein,
• Gene location: 6p12.1 (54018915: 54266324)     Exons: 19     NC_000006.12
• OMIM: 614106

Protein Summary

• Protein general information: Q5VWP3  
  • Name: Muscular LMNA interacting protein (Cardiac Isl1 interacting protein) (CIP) (Muscular enriched A type laminin interacting protein)
  • Length: 458  
  • Mass: 50429
  • Tissue specificity: Primarily expressed in heart and skeletal muscle. Also detected in liver. {ECO
• Sequence:

  MELEKREKRSLLNKNLEEKLTVSAGGSEAKPLIFTFVPTVRRLPTHTQLADTSKFLVKIPEESSDKSPETVNRSK
  SNDYLTLNAGSQQERDQAKLTCPSEVSGTILQEREFEANKLQGMQQSDLFKAEYVLIVDSEGEDEAASRKVEQGP
  PGGIGTAAVRPKSLAISSSLVSDVVRPKTQGTDLKTSSHPEMLHGMAPQQKHGQQYKTKSSYKAFAAIPTNTLLL
  EQKALDEPAKTESVSKDNTLEPPVELYFPAQLRQQTEELCATIDKVLQDSLSMHSSDSPSRSPKTLLGSDTVKTP
  TTLPRAAGRETKYANLSSPSSTVSESQLTKPGVIRPVPVKSRILLKKEEEVYEPNPFSKYLEDNSDLFSEQDVTV
  PPKPVSLHPLYQTKLYPPAKSLLHPQTLSHADCLAPGPFSHLSFSLSDEQENSHTLLSHNACNKLSHPMVAIPEH
  EALDSKEQ

• Structural information:
  • Interpro: IPR029331  
  • STRING: ENSP00000426290
• Other Databases: GeneCards:  MLIP  Malacards:  MLIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005521	lamin binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0005635	nuclear envelope	IBA	cellular component
GO:0016605	PML body	IBA	cellular component
GO:0042383	sarcolemma	IBA	cellular component
GO:0031981	nuclear lumen	ISS	cellular component
GO:0016605	PML body	ISS	cellular component
GO:0005635	nuclear envelope	ISS	cellular component
GO:1903243	negative regulation of cardiac muscle hypertrophy in response to stress	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0010614	negative regulation of cardiac muscle hypertrophy	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0042383	sarcolemma	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray