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Q5VWP3

- MLIP_HUMAN

UniProt

Q5VWP3 - MLIP_HUMAN

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Protein
Muscular LMNA-interacting protein
Gene
MLIP, C6orf142
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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. PML body Source: UniProtKB
  2. nuclear envelope Source: UniProtKB
  3. nuclear lumen Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134918634.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 458458Muscular LMNA-interacting protein
PRO_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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 4040Interaction with LMNA
Add
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.

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.
VSP_015320Add
BLAST
Alternative sequencei1 – 2121MELEK…EEKLT → MLSEQGLLSDCGNNYFQMTS CILSGSIQTTPQ in isoform 3.
VSP_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.
VSP_041464
Alternative sequencei205 – 29894Missing in isoform 2.
VSP_015321Add
BLAST
Alternative sequencei372 – 43968Missing in isoform 2.
VSP_015322Add
BLAST
Alternative sequencei372 – 39120DVTVP…QTKLY → AAHSVDSYCNGSDTSGPWLL in isoform 4.
VSP_055202Add
BLAST
Alternative sequencei392 – 45867Missing in isoform 4.
VSP_055203Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti355 – 3551N → T in AAH09010. 1 Publication

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]
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.
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 ]
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 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 78 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

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