MLIP (muscular LMNA interacting protein)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90523
Gene name Gene Name - the full gene name approved by the HGNC.
Muscular LMNA interacting protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MLIP
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf142, CIP, MMCKR
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p12.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(25)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614106 21355 ENSG00000146147
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 23434684, 25945833
Bronchiolitis Obliterans Syndrome Associate 18557742
Burns Associate 40028316
Cardiomyopathy Dilated Associate 28296976
Colorectal Neoplasms Associate 12381673, 32592383
Diabetic Foot Associate 23194110
Dyskeratosis Congenita Associate 21087144
Glaucoma Open Angle Associate 33452295
Glioma Associate 28582703
Idiopathic Pulmonary Fibrosis Inhibit 24958208