Q5VWP3 (MLIP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Muscular LMNA-interacting protein

Alternative name(s):
Muscular-enriched A-type laminin-interacting protein

Gene names

Name:	MLIP
Synonyms:	C6orf142

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	458 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Nucleus › PML 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

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	PML body Inferred from sequence or structural similarity. Source: UniProtKB nuclear envelope Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 458	458	Muscular LMNA-interacting protein		PRO_0000089538
Regions
	Region	1 – 40	40	Interaction with LMNA
Natural variations
	Alternative sequence	1 – 73	73	MELEK…ETVNR → MCSWYLGFECS in isoform 2.		VSP_015320
	Alternative sequence	1 – 21	21	MELEK…EEKLT → MLSEQGLLSDCGNNYFQMTS CILSGSIQTTPQ in isoform 3.		VSP_041463
	Alternative sequence	204	1	Q → 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.		VSP_041464
	Alternative sequence	205 – 298	94	Missing in isoform 2.		VSP_015321
	Alternative sequence	372 – 439	68	Missing in isoform 2.		VSP_015322
	Natural variant	6	1	R → H. Corresponds to variant rs17625497 [ dbSNP | Ensembl ].		VAR_033676
	Natural variant	159	1	V → I. Ref.1 Ref.3 Corresponds to variant rs4712056 [ dbSNP | Ensembl ].		VAR_023381
	Natural variant	320	1	S → T. Ref.1 Ref.3 Corresponds to variant rs6934690 [ dbSNP | Ensembl ].		VAR_023382
	Natural variant	376	1	P → S. Corresponds to variant rs2275769 [ dbSNP | Ensembl ].		VAR_056800
Experimental info
	Sequence conflict	355	1	N → T in AAH09010. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 51B3A35106551BF7	FASTA	458	50,429
	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
	Isoform 2 [UniParc]. Checksum: E92BF019C4B330AB	FASTA	234	25,666
	10 20 30 40 50 60 MCSWYLGFEC SSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE ANKLQGMQQS 70 80 90 100 110 120 DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS DVVRPKTQGT 130 140 150 160 170 180 DLKTSSHPEM LHGMAPQQKH GQTPTTLPRA AGRETKYANL SSPSSTVSES QLTKPGVIRP 190 200 210 220 230 VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQLSHPM VAIPEHEALD SKEQ
	Isoform 3 [UniParc]. Checksum: D58EE167D9D07B7C	FASTA	993	105,914
	10 20 30 40 50 60 MLSEQGLLSD CGNNYFQMTS CILSGSIQTT PQVSAGGSEA KPLIFTFVPT VRRLPTHTQL 70 80 90 100 110 120 ADTSKFLVKI PEESSDKSPE TVNRSKSNDY LTLNAGSQQE RDQAKLTCPS EVSGTILQER 130 140 150 160 170 180 EFEANKLQGM QQSDLFKAEY VLIVDSEGED EAASRKVEQG PPGGIGTAAV RPKSLAISSS 190 200 210 220 230 240 LVSDVVRPKT QGTDLKTSSH PEMLHGMAPQ QKHGQLTSSP TTSEQLACKP PAFSFVSPTN 250 260 270 280 290 300 PNTPPDPVNL EGASVLEEFH TRRLDVGGAV VEESATYFQT TAHSTPFSAS KGTSSTLLFP 310 320 330 340 350 360 HSTQLSGSNL PSSTAADPKP GLTSEVLKKT TLTSHVLSHG ESPRTSSSPP SSSASLKSNS 370 380 390 400 410 420 ASYIPVRIVT HSLSPSPKPF TSSFHGSSST ICSQMSSSGN LSKSGVKSPV PSRLALLTAI 430 440 450 460 470 480 LKSNPSHQRP FSPASCPTFS LNSPASSTLT LDQKEKQTPP TPKKSLSSCS LRAGSPDQGE 490 500 510 520 530 540 LQVSELTQQS FHLPVFTKST PLSQAPSLSP TKQASSSLAS MNVERTPSPT LKSNTMLSLL 550 560 570 580 590 600 QTSTSSSVGL PPVPPSSSLS SLKSKQDGDL RGPENPRNIH TYPSTLASSA LSSLSPPINQ 610 620 630 640 650 660 RATFSSSEKC FHPSPALSSL INRSKRASSQ LSGQELNPSA LPSLPVSSAD FASLPNLRSS 670 680 690 700 710 720 SLPHANLPTL VPQLSPSALH PHCGSGTLPS RLGKSESTTP NHRSPVSTPS LPISLTRTEE 730 740 750 760 770 780 LISPCALSMS TGPENKKSKQ YKTKSSYKAF AAIPTNTLLL EQKALDEPAK TESVSKDNTL 790 800 810 820 830 840 EPPVELYFPA QLRQQTEELC ATIDKVLQDS LSMHSSDSPS RSPKTLLGSD TVKTPTTLPR 850 860 870 880 890 900 AAGRETKYAN LSSPSSTVSE SQLTKPGVIR PVPVKSRILL KKEEEVYEPN PFSKYLEDNS 910 920 930 940 950 960 DLFSEQDVTV PPKPVSLHPL YQTKLYPPAK SLLHPQTLSH ADCLAPGPFS HLSFSLSDEQ 970 980 990 ENSHTLLSHN ACNKLSHPMV AIPEHEALDS KEQ

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00043637. IPI00749329. IPI00922212.
RefSeq	NP_612636.2. NM_138569.2.
UniGene	Hs.382212. Hs.591803.
3D structure databases
ProteinModelPortal	Q5VWP3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5VWP3. 1 interaction.
STRING	9606.ENSP00000274897.
PTM databases
PhosphoSite	Q5VWP3.
Polymorphism databases
DMDM	296439407.
Proteomic databases
PaxDb	Q5VWP3.
PRIDE	Q5VWP3.
Protocols and materials databases
DNASU	90523.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000274897; ENSP00000274897; ENSG00000146147. ENST00000370876; ENSP00000359913; ENSG00000146147. ENST00000502396; ENSP00000426290; ENSG00000146147.
GeneID	90523.
KEGG	hsa:90523.
UCSC	uc003pcg.4. human. uc003pch.4. human. uc011dxa.2. human.
Organism-specific databases
CTD	90523.
GeneCards	GC06P053796.
H-InvDB	HIX0022507.
HGNC	HGNC:21355. MLIP.
HPA	HPA046654.
MIM	614106. gene.
neXtProt	NX_Q5VWP3.
PharmGKB	PA134918634.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47342.
HOVERGEN	HBG105906.
InParanoid	Q5VWP3.
OMA	KKPKQYK.
PhylomeDB	Q5VWP3.
Gene expression databases
ArrayExpress	Q5VWP3.
Bgee	Q5VWP3.
CleanEx	HS_C6orf142.
Genevestigator	Q5VWP3.
GermOnline	ENSG00000146147. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	MLIP. human.
GenomeRNAi	90523.
NextBio	76813.
SOURCE	Search...

Entry information

Entry name

MLIP_HUMAN

Accession

Primary (citable) accession number: Q5VWP3
Secondary accession number(s): B7Z2N0, Q96H08, Q96NF7

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2005
Last sequence update:	May 18, 2010
Last modified:	April 3, 2013
This is version 66 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.