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Q5VWP3

- MLIP_HUMAN

UniProt

Q5VWP3 - MLIP_HUMAN

Protein

Muscular LMNA-interacting protein

Gene

MLIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • Format
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Muscular LMNA-interacting protein
    Alternative name(s):
    Muscular-enriched A-type laminin-interacting protein
    Gene namesi
    Name:MLIP
    Synonyms:C6orf142
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21355. MLIP.

    Subcellular locationi

    Nucleus By similarity. Nucleus envelope By similarity. NucleusPML body By similarity

    GO - Cellular componenti

    1. nuclear envelope Source: UniProtKB
    2. nuclear lumen Source: UniProtKB
    3. PML body Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134918634.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 458458Muscular LMNA-interacting proteinPRO_0000089538Add
    BLAST

    Proteomic databases

    PaxDbiQ5VWP3.
    PRIDEiQ5VWP3.

    PTM databases

    PhosphoSiteiQ5VWP3.

    Expressioni

    Tissue specificityi

    Primarily expressed in heart and skeletal muscle. Also detected in liver.1 Publication

    Gene expression databases

    ArrayExpressiQ5VWP3.
    BgeeiQ5VWP3.
    CleanExiHS_C6orf142.
    GenevestigatoriQ5VWP3.

    Organism-specific databases

    HPAiHPA046654.

    Interactioni

    Subunit structurei

    Interacts with LMNA; may regulate MLIP localization to the nucleus envelope.1 Publication

    Protein-protein interaction databases

    BioGridi124729. 1 interaction.
    IntActiQ5VWP3. 1 interaction.
    STRINGi9606.ENSP00000274897.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5VWP3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 4040Interaction with LMNAAdd
    BLAST

    Phylogenomic databases

    eggNOGiNOG47342.
    HOGENOMiHOG000169343.
    HOVERGENiHBG105906.
    InParanoidiQ5VWP3.
    OMAiCPTFSLN.
    OrthoDBiEOG7NCV2R.
    PhylomeDBiQ5VWP3.
    TreeFamiTF330818.

    Family and domain databases

    InterProiIPR029331. MLIP.
    [Graphical view]
    PANTHERiPTHR31514. PTHR31514. 1 hit.
    PfamiPF15274. MLIP. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    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

    MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA    50
    DTSKFLVKIP EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE 100
    VSGTILQERE FEANKLQGMQ QSDLFKAEYV LIVDSEGEDE AASRKVEQGP 150
    PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ GTDLKTSSHP EMLHGMAPQQ 200
    KHGQQYKTKS SYKAFAAIPT NTLLLEQKAL DEPAKTESVS KDNTLEPPVE 250
    LYFPAQLRQQ TEELCATIDK VLQDSLSMHS SDSPSRSPKT LLGSDTVKTP 300
    TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK SRILLKKEEE 350
    VYEPNPFSKY LEDNSDLFSE QDVTVPPKPV SLHPLYQTKL YPPAKSLLHP 400
    QTLSHADCLA PGPFSHLSFS LSDEQENSHT LLSHNACNKL SHPMVAIPEH 450
    EALDSKEQ 458
    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 CAI13927.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti355 – 3551N → T in AAH09010. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61R → H.
    Corresponds to variant rs17625497 [ dbSNP | Ensembl ].
    VAR_033676
    Natural varianti159 – 1591V → I.2 Publications
    Corresponds to variant rs4712056 [ dbSNP | Ensembl ].
    VAR_023381
    Natural varianti320 – 3201S → T.2 Publications
    Corresponds to variant rs6934690 [ dbSNP | Ensembl ].
    VAR_023382
    Natural varianti376 – 3761P → S.
    Corresponds to variant rs2275769 [ dbSNP | Ensembl ].
    VAR_056800

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7373MELEK…ETVNR → MCSWYLGFECS in isoform 2. 1 PublicationVSP_015320Add
    BLAST
    Alternative sequencei1 – 2121MELEK…EEKLT → MLSEQGLLSDCGNNYFQMTS CILSGSIQTTPQ in isoform 3. 1 PublicationVSP_041463Add
    BLAST
    Alternative sequencei204 – 2041Q → 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 PublicationVSP_041464
    Alternative sequencei205 – 29894Missing in isoform 2. 1 PublicationVSP_015321Add
    BLAST
    Alternative sequencei372 – 43968Missing in isoform 2. 1 PublicationVSP_015322Add
    BLAST
    Alternative sequencei372 – 39120DVTVP…QTKLY → AAHSVDSYCNGSDTSGPWLL in isoform 4. CuratedVSP_055202Add
    BLAST
    Alternative sequencei392 – 45867Missing in isoform 4. CuratedVSP_055203Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    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.
    UCSCiuc003pcg.4. human. [Q5VWP3-1]
    uc003pch.4. human. [Q5VWP3-2]
    uc011dxa.2. human. [Q5VWP3-3]

    Polymorphism databases

    DMDMi296439407.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS4954.1. [Q5VWP3-1 ]
    CCDS64448.1. [Q5VWP3-4 ]
    CCDS64449.1. [Q5VWP3-3 ]
    RefSeqi NP_001268675.1. NM_001281746.1.
    NP_001268676.1. NM_001281747.1. [Q5VWP3-3 ]
    NP_612636.2. NM_138569.2. [Q5VWP3-1 ]
    UniGenei Hs.449276.
    Hs.591803.

    3D structure databases

    ProteinModelPortali Q5VWP3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124729. 1 interaction.
    IntActi Q5VWP3. 1 interaction.
    STRINGi 9606.ENSP00000274897.

    PTM databases

    PhosphoSitei Q5VWP3.

    Polymorphism databases

    DMDMi 296439407.

    Proteomic databases

    PaxDbi Q5VWP3.
    PRIDEi Q5VWP3.

    Protocols and materials databases

    DNASUi 90523.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000274897 ; ENSP00000274897 ; ENSG00000146147 . [Q5VWP3-1 ]
    ENST00000370876 ; ENSP00000359913 ; ENSG00000146147 . [Q5VWP3-2 ]
    ENST00000502396 ; ENSP00000426290 ; ENSG00000146147 . [Q5VWP3-3 ]
    ENST00000514921 ; ENSP00000425142 ; ENSG00000146147 . [Q5VWP3-4 ]
    GeneIDi 90523.
    KEGGi hsa:90523.
    UCSCi uc003pcg.4. human. [Q5VWP3-1 ]
    uc003pch.4. human. [Q5VWP3-2 ]
    uc011dxa.2. human. [Q5VWP3-3 ]

    Organism-specific databases

    CTDi 90523.
    GeneCardsi GC06P053796.
    H-InvDB HIX0022507.
    HGNCi HGNC:21355. MLIP.
    HPAi HPA046654.
    MIMi 614106. gene.
    neXtProti NX_Q5VWP3.
    PharmGKBi PA134918634.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47342.
    HOGENOMi HOG000169343.
    HOVERGENi HBG105906.
    InParanoidi Q5VWP3.
    OMAi CPTFSLN.
    OrthoDBi EOG7NCV2R.
    PhylomeDBi Q5VWP3.
    TreeFami TF330818.

    Miscellaneous databases

    ChiTaRSi MLIP. human.
    GeneWikii C6orf142.
    GenomeRNAii 90523.
    NextBioi 35494137.
    PROi Q5VWP3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5VWP3.
    Bgeei Q5VWP3.
    CleanExi HS_C6orf142.
    Genevestigatori Q5VWP3.

    Family and domain databases

    InterProi IPR029331. MLIP.
    [Graphical view ]
    PANTHERi PTHR31514. PTHR31514. 1 hit.
    Pfami PF15274. MLIP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS ILE-159 AND THR-320.
      Tissue: Brain and Heart.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ILE-159 AND THR-320.
      Tissue: Brain.
    4. "Identification of a novel muscle enriched A-type Lamin interacting protein (MLIP)."
      Ahmady E., Deeke S.A., Rabaa S., Kouri L., Kenney L., Stewart A.F., Burgon P.G.
      J. Biol. Chem. 286:19702-19713(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH LMNA, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiMLIP_HUMAN
    AccessioniPrimary (citable) accession number: Q5VWP3
    Secondary accession number(s): B7Z2N0
    , D6RE05, Q96H08, Q96NF7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 79 of the entry and version 3 of the sequence. [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

    External Data

    Dasty 3