MLIP (muscular LMNA interacting protein)

Gene

• Entrez ID: 90523
• Gene name: Muscular LMNA interacting protein
• Gene symbol: MLIP
• Synonyms (NCBI Gene): C6orf142, CIP, MMCKR
• Chromosome: 6
• Chromosome location: 6p12.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005521	Function	Lamin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005635	Component	Nuclear envelope	IEA
GO:0005635	Component	Nuclear envelope	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	ISS
GO:0016020	Component	Membrane	IEA
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	ISS
GO:0031981	Component	Nuclear lumen	IEA
GO:0031981	Component	Nuclear lumen	ISS
GO:0042383	Component	Sarcolemma	IEA
GO:0042383	Component	Sarcolemma	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:1903243	Process	Negative regulation of cardiac muscle hypertrophy in response to stress	IEA
GO:1903243	Process	Negative regulation of cardiac muscle hypertrophy in response to stress	ISS

Other IDs

• MIM: 614106
• HGNC: 21355
• e!Ensembl: ENSG00000146147

Protein

• UniProt ID: Q5VWP3
• Protein name: Muscular LMNA-interacting protein (Cardiac Isl1-interacting protein) (CIP) (Muscular-enriched A-type laminin-interacting protein)
• Protein function: Required for myoblast differentiation into myotubes, possibly acting as a transcriptional regulator of the myogenic program (By similarity). Required for cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15274	MLIP	119 → 371	Muscular LMNA-interacting protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in the heart and skeletal muscle (PubMed:21498514, PubMed:26436652, PubMed:34581780). Also detected in liver (PubMed:21498514). {ECO:0000269|PubMed:21498514, ECO:0000269|PubMed:26436652, ECO:0000269|PubMed:34581
• Sequence:

  MELEKREKRSLLNKNLEEKLTVSAGGSEAKPLIFTFVPTVRRLPTHTQLADTSKFLVKIP
  EESSDKSPETVNRSKSNDYLTLNAGSQQERDQAKLTCPSEVSGTILQEREFEANKLQGMQ
  QSDLFKAEYVLIVDSEGEDEAASRKVEQGPPGGIGTAAVRPKSLAISSSLVSDVVRPKTQ
  GTDLKTSSHPEMLHGMAPQQKHGQQYKTKSSYKAFAAIPTNTLLLEQKALDEPAKTESVS
  KDNTLEPPVELYFPAQLRQQTEELCATIDKVLQDSLSMHSSDSPSRSPKTLLGSDTVKTP
  TTLPRAAGRETKYANLSSPSSTVSESQLTKPGVIRPVPVKSRILLKKEEEVYEPNPFSKY
  LEDNSDLFSEQDVTVPPKPVSLHPLYQTKLYPPAKSLLHPQTLSHADCLAPGPFSHLSFS
  LSDEQENSHTLLSHNACNKLSHPMVAIPEHEALDSKEQ

• Sequence length: 458

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual developmental disorder, autosomal dominant 64	Pathogenic	rs539057828	RCV004813206	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MLIP-related disorder	Likely pathogenic	rs2481953475	RCV003944635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	Pathogenic	rs2481741286, rs2481742586, rs2481953351, rs2481647144, rs539057828, rs901032025, rs1353661531, rs1293901426	RCV002463380 RCV002463381 RCV002463382 RCV002463383 RCV002463385 RCV002463386 RCV002463387 RCV002463388	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMBLYOPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	16315255		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	29325848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	23434684, 28106536		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23434684, 25945833	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	10506612		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26436652		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28296976	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	31278792		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12381673, 32592383	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26436652		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	23194110	Associate	★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	21087144		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	21087144	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	16951183		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	12858609		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	33452295	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28582703	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26436652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24958208	Inhibit	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16315255		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16315255	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	27913155	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23434684, 28106536		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	10506612		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23434684		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16328002		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10928132, 25553473		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	11378261		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19177004		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28281917		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular hypertension	Pubtator	33452295	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16328002, 25553473		★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	34581780	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	40028316	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20805359	Associate	★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	29959147		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	11378261		★☆☆☆☆ Found in Text Mining only