Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Muscular LMNA-interacting protein

Gene

MLIP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for precocious cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays an important role in protection against cardiac hypertrophy. Acts as a transcriptional cofactor, represses transactivator activity of ISL1 and MYOCD.By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Muscular LMNA-interacting proteinImported
Alternative name(s):
Cardiac Isl1-interacting protein1 Publication
Short name:
CIP1 Publication
Muscular-enriched A-type laminin-interacting protein
Gene namesi
Name:MLIPImported
Synonyms:C6orf142, Cip1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000146147.14.
HGNCiHGNC:21355. MLIP.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Expression is reduced in patients with dilated cardiomyocytes. In murine cardiomyopathy models, deletion of the encoding gene accelerates progress from hypertrophy to heart failure.1 Publication

Organism-specific databases

DisGeNETi90523.
OpenTargetsiENSG00000146147.
PharmGKBiPA134918634.

Polymorphism and mutation databases

BioMutaiMLIP.
DMDMi296439407.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000895381 – 458Muscular LMNA-interacting proteinAdd BLAST458

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei135PhosphoserineBy similarity1
Modified residuei283PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5VWP3.
MaxQBiQ5VWP3.
PaxDbiQ5VWP3.
PeptideAtlasiQ5VWP3.
PRIDEiQ5VWP3.

PTM databases

iPTMnetiQ5VWP3.
PhosphoSitePlusiQ5VWP3.

Expressioni

Tissue specificityi

Primarily expressed in heart and skeletal muscle. Also detected in liver.2 Publications

Gene expression databases

BgeeiENSG00000146147.
CleanExiHS_C6orf142.
ExpressionAtlasiQ5VWP3. baseline and differential.
GenevisibleiQ5VWP3. HS.

Organism-specific databases

HPAiHPA046654.

Interactioni

Subunit structurei

Interacts with LMNA (PubMed:21498514). Interacts with ISL1 (via N-terminal domain); the interaction represses ISL1 transactivator activity (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi124729. 1 interactor.
IntActiQ5VWP3. 2 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ5VWP3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 40Interaction with LMNA1 PublicationAdd BLAST40
Regioni150 – 302Required for interaction with ISL1By similarityAdd BLAST153

Phylogenomic databases

eggNOGiENOG410IKX6. Eukaryota.
ENOG4111V4V. LUCA.
GeneTreeiENSGT00390000015862.
HOGENOMiHOG000169343.
HOVERGENiHBG105906.
InParanoidiQ5VWP3.
OMAiLACKPPA.
OrthoDBiEOG091G07D1.
PhylomeDBiQ5VWP3.
TreeFamiTF330818.

Family and domain databases

InterProiView protein in InterPro
IPR029331. MLIP.
PANTHERiPTHR31514. PTHR31514. 2 hits.
PfamiView protein in Pfam
PF15274. MLIP. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist according to PubMed:21498514.
Isoform 1 (identifier: Q5VWP3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA
60 70 80 90 100
DTSKFLVKIP EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE
110 120 130 140 150
VSGTILQERE FEANKLQGMQ QSDLFKAEYV LIVDSEGEDE AASRKVEQGP
160 170 180 190 200
PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ GTDLKTSSHP EMLHGMAPQQ
210 220 230 240 250
KHGQQYKTKS SYKAFAAIPT NTLLLEQKAL DEPAKTESVS KDNTLEPPVE
260 270 280 290 300
LYFPAQLRQQ TEELCATIDK VLQDSLSMHS SDSPSRSPKT LLGSDTVKTP
310 320 330 340 350
TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK SRILLKKEEE
360 370 380 390 400
VYEPNPFSKY LEDNSDLFSE QDVTVPPKPV SLHPLYQTKL YPPAKSLLHP
410 420 430 440 450
QTLSHADCLA PGPFSHLSFS LSDEQENSHT LLSHNACNKL SHPMVAIPEH

EALDSKEQ
Length:458
Mass (Da):50,429
Last modified:May 18, 2010 - v3
Checksum:i51B3A35106551BF7
GO
Isoform 2 (identifier: Q5VWP3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: MELEKREKRS...SDKSPETVNR → MCSWYLGFECS
     205-298: Missing.
     372-439: Missing.

Note: No experimental confirmation available.
Show »
Length:234
Mass (Da):25,666
Checksum:iE92BF019C4B330AB
GO
Isoform 3 (identifier: Q5VWP3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MELEKREKRSLLNKNLEEKLT → MLSEQGLLSDCGNNYFQMTSCILSGSIQTTPQ
     204-204: Q → QLTSSPTTSE...STGPENKKSK

Note: No experimental confirmation available.
Show »
Length:993
Mass (Da):105,914
Checksum:iD58EE167D9D07B7C
GO
Isoform 4 (identifier: Q5VWP3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     204-204: Q → QLTSSPTTSE...STGPENKKSK
     372-391: DVTVPPKPVSLHPLYQTKLY → AAHSVDSYCNGSDTSGPWLL
     392-458: Missing.

Note: No experimental confirmation available.
Show »
Length:915
Mass (Da):97,558
Checksum:iF3B8CED122E58C82
GO

Sequence cautioni

The sequence CAI13927 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti355N → T in AAH09010 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0336766R → H. Corresponds to variant dbSNP:rs17625497Ensembl.1
Natural variantiVAR_023381159V → I2 PublicationsCorresponds to variant dbSNP:rs4712056Ensembl.1
Natural variantiVAR_023382320S → T2 PublicationsCorresponds to variant dbSNP:rs6934690Ensembl.1
Natural variantiVAR_056800376P → S. Corresponds to variant dbSNP:rs2275769Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0153201 – 73MELEK…ETVNR → MCSWYLGFECS in isoform 2. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_0414631 – 21MELEK…EEKLT → MLSEQGLLSDCGNNYFQMTS CILSGSIQTTPQ in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_041464204Q → QLTSSPTTSEQLACKPPAFS FVSPTNPNTPPDPVNLEGAS VLEEFHTRRLDVGGAVVEES ATYFQTTAHSTPFSASKGTS STLLFPHSTQLSGSNLPSST AADPKPGLTSEVLKKTTLTS HVLSHGESPRTSSSPPSSSA SLKSNSASYIPVRIVTHSLS PSPKPFTSSFHGSSSTICSQ MSSSGNLSKSGVKSPVPSRL ALLTAILKSNPSHQRPFSPA SCPTFSLNSPASSTLTLDQK EKQTPPTPKKSLSSCSLRAG SPDQGELQVSELTQQSFHLP VFTKSTPLSQAPSLSPTKQA SSSLASMNVERTPSPTLKSN TMLSLLQTSTSSSVGLPPVP PSSSLSSLKSKQDGDLRGPE NPRNIHTYPSTLASSALSSL SPPINQRATFSSSEKCFHPS PALSSLINRSKRASSQLSGQ ELNPSALPSLPVSSADFASL PNLRSSSLPHANLPTLVPQL SPSALHPHCGSGTLPSRLGK SESTTPNHRSPVSTPSLPIS LTRTEELISPCALSMSTGPE NKKSK in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_015321205 – 298Missing in isoform 2. 1 PublicationAdd BLAST94
Alternative sequenceiVSP_015322372 – 439Missing in isoform 2. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_055202372 – 391DVTVP…QTKLY → AAHSVDSYCNGSDTSGPWLL in isoform 4. CuratedAdd BLAST20
Alternative sequenceiVSP_055203392 – 458Missing in isoform 4. CuratedAdd BLAST67

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055530 mRNA. Translation: BAB70942.1.
AK294890 mRNA. Translation: BAH11916.1.
AL365328, AL139389, AL359380 Genomic DNA. Translation: CAH73017.1.
AL139389, AL359380, AL365328 Genomic DNA. Translation: CAI13927.1. Sequence problems.
AL359380, AL139389, AL365328 Genomic DNA. Translation: CAI16270.1.
BC009010 mRNA. Translation: AAH09010.1.
AL033384 Genomic DNA. No translation available.
CCDSiCCDS4954.1. [Q5VWP3-1]
CCDS64448.1. [Q5VWP3-4]
CCDS64449.1. [Q5VWP3-3]
RefSeqiNP_001268675.1. NM_001281746.1. [Q5VWP3-4]
NP_001268676.1. NM_001281747.1. [Q5VWP3-3]
NP_612636.2. NM_138569.2. [Q5VWP3-1]
UniGeneiHs.449276.
Hs.591803.

Genome annotation databases

EnsembliENST00000274897; ENSP00000274897; ENSG00000146147. [Q5VWP3-1]
ENST00000370876; ENSP00000359913; ENSG00000146147. [Q5VWP3-2]
ENST00000502396; ENSP00000426290; ENSG00000146147. [Q5VWP3-3]
ENST00000514921; ENSP00000425142; ENSG00000146147. [Q5VWP3-4]
GeneIDi90523.
KEGGihsa:90523.
UCSCiuc003pcf.2. human. [Q5VWP3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMLIP_HUMAN
AccessioniPrimary (citable) accession number: Q5VWP3
Secondary accession number(s): B7Z2N0
, D6RE05, Q96H08, Q96NF7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: May 18, 2010
Last modified: October 25, 2017
This is version 100 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot