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Q5VWP3 (MLIP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Muscular LMNA-interacting protein
Alternative name(s):
Muscular-enriched A-type laminin-interacting protein
Gene names
Name:MLIP
Synonyms:C6orf142
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length458 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with LMNA; may regulate MLIP localization to the nucleus envelope. Ref.4

Subcellular location

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

Tissue specificity

Primarily expressed in heart and skeletal muscle. Also detected in liver. Ref.4

Sequence caution

The sequence CAI13927.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist according to PubMed=21498514.
Isoform 1 (identifier: Q5VWP3-1)

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.
Isoform 2 (identifier: Q5VWP3-2)

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.
Isoform 3 (identifier: Q5VWP3-3)

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.
Isoform 4 (identifier: Q5VWP3-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 458458Muscular LMNA-interacting protein
PRO_0000089538

Regions

Region1 – 4040Interaction with LMNA

Natural variations

Alternative sequence1 – 7373MELEK…ETVNR → MCSWYLGFECS in isoform 2.
VSP_015320
Alternative sequence1 – 2121MELEK…EEKLT → MLSEQGLLSDCGNNYFQMTS CILSGSIQTTPQ in isoform 3.
VSP_041463
Alternative sequence2041Q → 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 sequence205 – 29894Missing in isoform 2.
VSP_015321
Alternative sequence372 – 43968Missing in isoform 2.
VSP_015322
Alternative sequence372 – 39120DVTVP…QTKLY → AAHSVDSYCNGSDTSGPWLL in isoform 4.
VSP_055202
Alternative sequence392 – 45867Missing in isoform 4.
VSP_055203
Natural variant61R → H.
Corresponds to variant rs17625497 [ dbSNP | Ensembl ].
VAR_033676
Natural variant1591V → I. Ref.1 Ref.3
Corresponds to variant rs4712056 [ dbSNP | Ensembl ].
VAR_023381
Natural variant3201S → T. Ref.1 Ref.3
Corresponds to variant rs6934690 [ dbSNP | Ensembl ].
VAR_023382
Natural variant3761P → S.
Corresponds to variant rs2275769 [ dbSNP | Ensembl ].
VAR_056800

Experimental info

Sequence conflict3551N → T in AAH09010. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 51B3A35106551BF7

FASTA45850,429
        10         20         30         40         50         60 
MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP 

        70         80         90        100        110        120 
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ 

       130        140        150        160        170        180 
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ 

       190        200        210        220        230        240 
GTDLKTSSHP EMLHGMAPQQ KHGQQYKTKS SYKAFAAIPT NTLLLEQKAL DEPAKTESVS 

       250        260        270        280        290        300 
KDNTLEPPVE LYFPAQLRQQ TEELCATIDK VLQDSLSMHS SDSPSRSPKT LLGSDTVKTP 

       310        320        330        340        350        360 
TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK SRILLKKEEE VYEPNPFSKY 

       370        380        390        400        410        420 
LEDNSDLFSE QDVTVPPKPV SLHPLYQTKL YPPAKSLLHP QTLSHADCLA PGPFSHLSFS 

       430        440        450 
LSDEQENSHT LLSHNACNKL SHPMVAIPEH EALDSKEQ 

« Hide

Isoform 2 [UniParc].

Checksum: E92BF019C4B330AB
Show »

FASTA23425,666
Isoform 3 [UniParc].

Checksum: D58EE167D9D07B7C
Show »

FASTA993105,914
Isoform 4 [UniParc].

Checksum: F3B8CED122E58C82
Show »

FASTA91597,558

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS4954.1. [Q5VWP3-1]
CCDS64449.1. [Q5VWP3-3]
RefSeqNP_001268675.1. NM_001281746.1.
NP_001268676.1. NM_001281747.1. [Q5VWP3-3]
NP_612636.2. NM_138569.2. [Q5VWP3-1]
UniGeneHs.449276.
Hs.591803.

3D structure databases

ProteinModelPortalQ5VWP3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124729. 1 interaction.
IntActQ5VWP3. 1 interaction.
STRING9606.ENSP00000274897.

PTM databases

PhosphoSiteQ5VWP3.

Polymorphism databases

DMDM296439407.

Proteomic databases

PaxDbQ5VWP3.
PRIDEQ5VWP3.

Protocols and materials databases

DNASU90523.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000274897; ENSP00000274897; ENSG00000146147. [Q5VWP3-1]
ENST00000370876; ENSP00000359913; ENSG00000146147. [Q5VWP3-2]
ENST00000502396; ENSP00000426290; ENSG00000146147. [Q5VWP3-3]
ENST00000514921; ENSP00000425142; ENSG00000146147.
GeneID90523.
KEGGhsa:90523.
UCSCuc003pcg.4. human. [Q5VWP3-1]
uc003pch.4. human. [Q5VWP3-2]
uc011dxa.2. human. [Q5VWP3-3]

Organism-specific databases

CTD90523.
GeneCardsGC06P053796.
H-InvDBHIX0022507.
HGNCHGNC:21355. MLIP.
HPAHPA046654.
MIM614106. gene.
neXtProtNX_Q5VWP3.
PharmGKBPA134918634.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47342.
HOGENOMHOG000169343.
HOVERGENHBG105906.
InParanoidQ5VWP3.
OMACPTFSLN.
OrthoDBEOG7NCV2R.
PhylomeDBQ5VWP3.
TreeFamTF330818.

Gene expression databases

ArrayExpressQ5VWP3.
BgeeQ5VWP3.
CleanExHS_C6orf142.
GenevestigatorQ5VWP3.

Family and domain databases

InterProIPR029331. MLIP.
[Graphical view]
PANTHERPTHR31514. PTHR31514. 1 hit.
PfamPF15274. MLIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMLIP. human.
GeneWikiC6orf142.
GenomeRNAi90523.
NextBio76813.
PROQ5VWP3.
SOURCESearch...

Entry information

Entry nameMLIP_HUMAN
AccessionPrimary (citable) accession number: Q5VWP3
Secondary accession number(s): B7Z2N0 expand/collapse secondary AC list , D6RE05, Q96H08, Q96NF7
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 77 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM