MLIP

Protein identityUniProt · HPA

UniProt accession

Q5VWP3

Gene

MLIP

Ensembl

ENSG00000146147

Chromosome

6

Canonical length

993 aa

Protein class

Disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Vesicles,Plasma membrane

OverviewNCBI Gene

Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Predicted to be located in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

993 residues, UniProt reviewed canonical sequence.

>Q5VWP3|MLIP
     1  MLSEQGLLSD CGNNYFQMTS CILSGSIQTT PQVSAGGSEA KPLIFTFVPT VRRLPTHTQL
    61  ADTSKFLVKI PEESSDKSPE TVNRSKSNDY LTLNAGSQQE RDQAKLTCPS EVSGTILQER
   121  EFEANKLQGM QQSDLFKAEY VLIVDSEGED EAASRKVEQG PPGGIGTAAV RPKSLAISSS
   181  LVSDVVRPKT QGTDLKTSSH PEMLHGMAPQ QKHGQLTSSP TTSEQLACKP PAFSFVSPTN
   241  PNTPPDPVNL EGASVLEEFH TRRLDVGGAV VEESATYFQT TAHSTPFSAS KGTSSTLLFP
   301  HSTQLSGSNL PSSTAADPKP GLTSEVLKKT TLTSHVLSHG ESPRTSSSPP SSSASLKSNS
   361  ASYIPVRIVT HSLSPSPKPF TSSFHGSSST ICSQMSSSGN LSKSGVKSPV PSRLALLTAI
   421  LKSNPSHQRP FSPASCPTFS LNSPASSTLT LDQKEKQTPP TPKKSLSSCS LRAGSPDQGE
   481  LQVSELTQQS FHLPVFTKST PLSQAPSLSP TKQASSSLAS MNVERTPSPT LKSNTMLSLL
   541  QTSTSSSVGL PPVPPSSSLS SLKSKQDGDL RGPENPRNIH TYPSTLASSA LSSLSPPINQ
   601  RATFSSSEKC FHPSPALSSL INRSKRASSQ LSGQELNPSA LPSLPVSSAD FASLPNLRSS
   661  SLPHANLPTL VPQLSPSALH PHCGSGTLPS RLGKSESTTP NHRSPVSTPS LPISLTRTEE
   721  LISPCALSMS TGPENKKSKQ YKTKSSYKAF AAIPTNTLLL EQKALDEPAK TESVSKDNTL
   781  EPPVELYFPA QLRQQTEELC ATIDKVLQDS LSMHSSDSPS RSPKTLLGSD TVKTPTTLPR
   841  AAGRETKYAN LSSPSSTVSE SQLTKPGVIR PVPVKSRILL KKEEEVYEPN PFSKYLEDNS
   901  DLFSEQDVTV PPKPVSLHPL YQTKLYPPAK SLLHPQTLSH ADCLAPGPFS HLSFSLSDEQ
   961  ENSHTLLSHN ACNKLSHPMV AIPEHEALDS KEQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MLIP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.7

Highest tissue expression

205 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MLIP.

Disease | AllUniProt

Conditions MLIP is implicated in, by any mechanism.

• Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 (MMCKR1) MIM:620138

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 90 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
• Intellectual developmental disorder, autosomal dominant 64
• MLIP-related disorder
• Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.39

gnomAD pLI

0

gnomAD missense Z

-0.71

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of cardiac muscle hypertrophy
• negative regulation of cardiac muscle hypertrophy in response to stress
• negative regulation of transcription by RNA polymerase II
• positive regulation of transcription by RNA polymerase II
• transcription by RNA polymerase II

Molecular functions

• lamin binding
• transcription corepressor activity

Cellular components

• cytosol
• nuclear envelope
• nuclear lumen
• nucleus
• PML body
• sarcolemma

Protein domainsUniProt · Pfam · InterPro

• Muscular LMNA-interacting protein
• Muscular LMNA-interacting protein

KeywordsUniProt

• Cell membrane
• Cytoplasm
• Membrane
• Nucleus
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of MLIP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ISL1
• LMNA