MLIP
entrez
90523
canonical
uniprot
Q5VWP3
canonical
ensembl
ENSG00000146147
resolver
ensp
ENSP00000274897
resolver
ensp
ENSP00000425142
resolver
ensp
ENSP00000426290
resolver
ensp
ENSP00000630926
resolver
ensp
ENSP00000721635
resolver
genesymbol
MLIP
resolver
genesymbol_syn
C6orf142
resolver
genesymbol_syn
Cip
resolver
hgnc
HGNC:21355
resolver
uniprot
B7Z2N0
resolver
uniprot
D6RE05
resolver
uniprot
Q96H08
resolver
uniprot
Q96NF7
resolver
uniprot_entry
MLIP_HUMAN
resolver
uniprot_sec
B7Z2N0
resolver
uniprot_sec
D6RE05
resolver
uniprot_sec
Q96H08
resolver
uniprot_sec
Q96NF7
resolver
amino_acid_sequence
MLSEQGLLSDCGNNYFQMTSCILSGSIQTTPQVSAGGSEAKPLIFTFVPTVRRLPTHTQLADTSKFLVKIPEESSDKSPETVNRSKSNDYLTLNAGSQQERDQAKLTCPSEVSGTILQEREFEANKLQGMQQSDLFKAEYVLIVDSEGEDEAASRKVEQGPPGGIGTAAVRPKSLAISSSLVSDVVRPKTQGTDLKTSSHPEMLHGMAPQQKHGQLTSSPTTSEQLACKPPAFSFVSPTNPNTPPDPVNLEGASVLEEFHTRRLDVGGAVVEESATYFQTTAHSTPFSASKGTSSTLLFPHSTQLSGSNLPSSTAADPKPGLTSEVLKKTTLTSHVLSHGESPRTSSSPPSSSASLKSNSASYIPVRIVTHSLSPSPKPFTSSFHGSSSTICSQMSSSGNLSKSGVKSPVPSRLALLTAILKSNPSHQRPFSPASCPTFSLNSPASSTLTLDQKEKQTPPTPKKSLSSCSLRAGSPDQGELQVSELTQQSFHLPVFTKSTPLSQAPSLSPTKQASSSLASMNVERTPSPTLKSNTMLSLLQTSTSSSVGLPPVPPSSSLSSLKSKQDGDLRGPENPRNIHTYPSTLASSALSSLSPPINQRATFSSSEKCFHPSPALSSLINRSKRASSQLSGQELNPSALPSLPVSSADFASLPNLRSSSLPHANLPTLVPQLSPSALHPHCGSGTLPSRLGKSESTTPNHRSPVSTPSLPISLTRTEELISPCALSMSTGPENKKSKQYKTKSSYKAFAAIPTNTLLLEQKALDEPAKTESVSKDNTLEPPVELYFPAQLRQQTEELCATIDKVLQDSLSMHSSDSPSRSPKTLLGSDTVKTPTTLPRAAGRETKYANLSSPSSTVSESQLTKPGVIRPVPVKSRILLKKEEEVYEPNPFSKYLEDNSDLFSEQDVTVPPKPVSLHPLYQTKLYPPAKSLLHPQTLSHADCLAPGPFSHLSFSLSDEQENSHTLLSHNACNKLSHPMVAIPEHEALDSKEQ
uniprot
proteins
disease_involvement
DISEASE: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 (MMCKR1) [MIM:620138]: An autosomal recessive muscular disorder characterized by mild muscle weakness, early fatigue after mild to moderate physical exertion, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and elevated serum creatine kinase levels. Rarely, affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. {ECO:0000269|PubMed:34581780, ECO:0000269|PubMed:34935254, ECO:0000269|PubMed:35672413, ECO:0000269|PubMed:35915960}. Note=The disease is caused by variants affecting the gene represented in this entry. In a patient homozygous for the variant p.Gln762Ter, it has been shown that skeletal muscles display a clear alteration of the alternative splicing isoform expression pattern. While the variant transcript likely undergoes nonsense-mediated mRNA decay, cells may attempt to compensate for truncated MLIP proteins by expressing alternative transcripts; this partial escape mechanism may account for the relatively mild phenotype in this individual, who did not develop significant symptoms until around 50 years of age. {ECO:0000269|PubMed:35672413}.
uniprot
proteins
function
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 FOXO1. Regulates cardiac homeostasis and plays a role in the protection against cardiac hypertrophy (By similarity). Binds chromatin (By similarity). May act as a transcriptional cofactor for ISL1, repressing its transcriptional activity (By similarity). May also repress MYOCD transcriptional activity (By similarity). {ECO:0000250|UniProtKB:Q5FW52}.
uniprot
proteins
mass_dalton
105914
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21498514
uniprot
proteins
pubmed
26436652
uniprot
proteins
pubmed
34581780
uniprot
proteins
pubmed
34935254
uniprot
proteins
pubmed
35672413
uniprot
proteins
pubmed
35915960
uniprot
proteins
sequence_length
993
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:34581780}. Nucleus envelope {ECO:0000250|UniProtKB:Q5FW52}. Nucleus, PML body {ECO:0000250|UniProtKB:Q5FW52}. Cytoplasm, cytosol {ECO:0000269|PubMed:34581780}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q5FW52}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q5FW52}; Cytoplasmic side {ECO:0000250|UniProtKB:Q5FW52}.
uniprot
proteins