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Q86TC9 (MYPN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myopalladin
Alternative name(s):
145 kDa sarcomeric protein
Gene names
Name:MYPN
Synonyms:MYOP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1320 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines. Ref.1

Subunit structure

Interacts with TTN/titin, NEB, NEBL, ACTN2 and CARP. Ref.1 Ref.5

Subcellular location

Cytoplasm. Nucleus By similarity. Cytoplasmmyofibrilsarcomere. Note: Bound to sarcomere both at the Z-line periphery and in the central I-band region.

Tissue specificity

Expressed in adult skeletal muscle and fetal heart. Ref.1

Involvement in disease

Cardiomyopathy, dilated 1KK (CMD1KK) [MIM:615248]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12

Cardiomyopathy, familial hypertrophic 22 (CMH22) [MIM:615248]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Cardiomyopathy, familial restrictive 4 (RCM4) [MIM:615248]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the myotilin/palladin family.

Contains 5 Ig-like (immunoglobulin-like) domains.

Sequence caution

The sequence CAD38923.2 differs from that shown. Reason: Erroneous initiation.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NEBP209292EBI-2562606,EBI-1049657

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86TC9-1)

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: Q86TC9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-275: Missing.
     276-301: RSREVPEGTRVQLDCIVVGIPPPQVR → MLTVQVKTSSAIELPDSLAFLWIIPM
Note: No experimental confirmation available.
Isoform 3 (identifier: Q86TC9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     495-507: EEICTLVIAEVFA → GKDDFNFNLLVYE
     508-1320: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13201320Myopalladin
PRO_0000240489

Regions

Domain269 – 35991Ig-like 1
Domain435 – 53197Ig-like 2
Domain945 – 102985Ig-like 3
Domain1073 – 116290Ig-like 4
Domain1172 – 126291Ig-like 5
Region1 – 522522Interaction with CARP
Region649 – 67729Interaction with NEB
Region945 – 1320376Interaction with ACTN
Coiled coil219 – 24830 Potential
Compositional bias53 – 564Poly-Gly
Compositional bias784 – 85673Pro-rich

Amino acid modifications

Modified residue1011Phosphoserine Ref.8
Modified residue2511Phosphothreonine Ref.7
Modified residue7591Phosphoserine Ref.7
Modified residue8131Phosphoserine Ref.7 Ref.8
Modified residue8181Phosphoserine Ref.7
Modified residue9281Phosphoserine Ref.6 Ref.7 Ref.8
Disulfide bond290 ↔ 341 By similarity
Disulfide bond456 ↔ 515 By similarity
Disulfide bond1094 ↔ 1146 By similarity

Natural variations

Alternative sequence1 – 275275Missing in isoform 2.
VSP_019384
Alternative sequence276 – 30126RSREV…PPQVR → MLTVQVKTSSAIELPDSLAF LWIIPM in isoform 2.
VSP_019385
Alternative sequence495 – 50713EEICT…AEVFA → GKDDFNFNLLVYE in isoform 3.
VSP_019386
Alternative sequence508 – 1320813Missing in isoform 3.
VSP_019387
Natural variant201Y → C in CHM22 and CMD1KK; perturbs MYPN nuclear shuttling and leads to disruption of intercalated disks. Ref.10
Corresponds to variant rs140148105 [ dbSNP | Ensembl ].
VAR_069642
Natural variant1531K → R in CHM22. Ref.10
Corresponds to variant rs199476401 [ dbSNP | Ensembl ].
VAR_069643
Natural variant2131I → V in CMD1KK. Ref.10
Corresponds to variant rs199476402 [ dbSNP | Ensembl ].
VAR_069644
Natural variant2171A → E in CHM22. Ref.10
Corresponds to variant rs199476403 [ dbSNP | Ensembl ].
VAR_069645
Natural variant3391Y → F in CMD1KK. Ref.10
Corresponds to variant rs199476404 [ dbSNP | Ensembl ].
VAR_069646
Natural variant3931V → A. Ref.10 Ref.12
Corresponds to variant rs11596653 [ dbSNP | Ensembl ].
VAR_049911
Natural variant4101V → A in CHM22. Ref.10
Corresponds to variant rs199476406 [ dbSNP | Ensembl ].
VAR_069647
Natural variant4671E → K. Ref.10
Corresponds to variant rs74143030 [ dbSNP | Ensembl ].
VAR_069648
Natural variant6111A → T in CMD1KK. Ref.10
Corresponds to variant rs199476409 [ dbSNP | Ensembl ].
VAR_069649
Natural variant6141E → K. Ref.10
Corresponds to variant rs143338091 [ dbSNP | Ensembl ].
VAR_069650
Natural variant6281F → L. Ref.10 Ref.12
Corresponds to variant rs10823148 [ dbSNP | Ensembl ].
VAR_049912
Natural variant6911S → N. Ref.1 Ref.10 Ref.12
Corresponds to variant rs10997975 [ dbSNP | Ensembl ].
VAR_026727
Natural variant7071S → N. Ref.1 Ref.10 Ref.12
Corresponds to variant rs7916821 [ dbSNP | Ensembl ].
VAR_026728
Natural variant8031S → R. Ref.1 Ref.10 Ref.12
Corresponds to variant rs3814182 [ dbSNP | Ensembl ].
VAR_026729
Natural variant8041G → R. Ref.10
Corresponds to variant rs62620248 [ dbSNP | Ensembl ].
VAR_069651
Natural variant8411P → T in CHM22. Ref.10
Corresponds to variant rs199476410 [ dbSNP | Ensembl ].
VAR_069652
Natural variant8821A → T in CMD1KK. Ref.10
Corresponds to variant rs199476411 [ dbSNP | Ensembl ].
VAR_069653
Natural variant9541F → L in CMD1KK. Ref.10
Corresponds to variant rs199476413 [ dbSNP | Ensembl ].
VAR_069654
Natural variant9551R → Q. Ref.10
Corresponds to variant rs199476414 [ dbSNP | Ensembl ].
VAR_069655
Natural variant9551R → W in CMD1KK; unknown pathological significance. Ref.12
Corresponds to variant rs149887823 [ dbSNP | Ensembl ].
VAR_069656
Natural variant9611P → L in CMD1KK. Ref.12
VAR_069657
Natural variant10881R → H in CMD1KK. Ref.11
Corresponds to variant rs71584501 [ dbSNP | Ensembl ].
VAR_069658
Natural variant11121P → L in CMD1KK and CHM22; results in sarcomere disorganization and premature cell death. Ref.10 Ref.11
VAR_069659
Natural variant11351P → T. Ref.10 Ref.12
Corresponds to variant rs7079481 [ dbSNP | Ensembl ].
VAR_049913
Natural variant11611L → I in CHM22. Ref.10
Corresponds to variant rs138313730 [ dbSNP | Ensembl ].
VAR_069660
Natural variant11951V → M in CMD1KK; results in sarcomere disorganization and premature cell death. Ref.11
Corresponds to variant rs71534280 [ dbSNP | Ensembl ].
VAR_069661
Natural variant12651A → P in CHM22. Ref.10
Corresponds to variant rs199476416 [ dbSNP | Ensembl ].
VAR_069662
Natural variant13061V → G. Ref.10
Corresponds to variant rs199476417 [ dbSNP | Ensembl ].
VAR_069663

Experimental info

Sequence conflict1391Q → R in CAD89906. Ref.2
Sequence conflict4841L → S in CAD89906. Ref.2
Sequence conflict5091D → G in CAD89906. Ref.2
Sequence conflict6011N → D in CAD89906. Ref.2
Sequence conflict6771L → S in CAD89906. Ref.2
Sequence conflict9081F → L in CAD89906. Ref.2
Sequence conflict9911H → R in CAD38923. Ref.2
Sequence conflict10781A → T in CAD91155. Ref.2
Sequence conflict11181S → P in CAD38923. Ref.2

Sequences

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

Last modified June 27, 2006. Version 2.
Checksum: FD59508CB611A9A9

FASTA1,320145,257
        10         20         30         40         50         60 
MQDDSIEAST SISQLLRESY LAETRHRGNN ERSRAEPSSN PCHFGSPSGA AEGGGGQDDL 

        70         80         90        100        110        120 
PDLSAFLSQE ELDESVNLAR LAINYDPLEK ADETQARKRL SPDQMKHSPN LSFEPNFCQD 

       130        140        150        160        170        180 
NPRSPTSSKE SPQEAKRPQY CSETQSKKVF LNKAADFIEE LSSLFKSHSS KRIRPRACKN 

       190        200        210        220        230        240 
HKSKLESQNK VMQENSSSFS DLSERRERSS VPIPIPADTR DNEVNHALEQ QEAKRREAEQ 

       250        260        270        280        290        300 
AASEAAGGDT TPGSSPSSLY YEEPLGQPPR FTQKLRSREV PEGTRVQLDC IVVGIPPPQV 

       310        320        330        340        350        360 
RWYCEGKELE NSPDIHIVQA GNLHSLTIAE AFEEDTGRYS CFASNIYGTD STSAEIYIEG 

       370        380        390        400        410        420 
VSSSDSEGDP NKEEMNRIQK PNEVSSPPTT SAVIPPAVPQ AQHLVAQPRV ATIQQCQSPT 

       430        440        450        460        470        480 
NYLQGLDGKP IIAAPVFTKM LQNLSASEGQ LVVFECRVKG APSPKVEWYR EGTLIEDSPD 

       490        500        510        520        530        540 
FRILQKKPRS MAEPEEICTL VIAEVFAEDS GCFTCTASNK YGTVSSIAQL HVRGNEDLSN 

       550        560        570        580        590        600 
NGSLHSANST TNLAAIEPQP SPPHSEPPSV EQPPKPKLEG VLVNHNEPRS SSRIGLRVHF 

       610        620        630        640        650        660 
NLPEDDKGSE ASSEAGVVTT RQTRPDSFQE RFNGQATKTP EPSSPVKEPP PVLAKPKLDS 

       670        680        690        700        710        720 
TQLQQLHNQV LLEQHQLQNP PPSSPKEFPF SMTVLNSNAP PAVTTSSKQV KAPSSQTFSL 

       730        740        750        760        770        780 
ARPKYFFPST NTTAATVAPS SSPVFTLSST PQTIQRTVSK ESLLVSHPSV QTKSPGGLSI 

       790        800        810        820        830        840 
QNEPLPPGPT EPTPPPFTFS IPSGNQFQPR CVSPIPVSPT SRIQNPVAFL SSVLPSLPAI 

       850        860        870        880        890        900 
PPTNAMGLPR SAPSMPSQGL AKKNTKSPQP VNDDNIRETK NAVIRDLGKK ITFSDVRPNQ 

       910        920        930        940        950        960 
QEYKISSFEQ RLMNEIEFRL ERTPVDESDD EIQHDEIPTG KCIAPIFDKR LKHFRVTEGS 

       970        980        990       1000       1010       1020 
PVTFTCKIVG IPVPKVYWFK DGKQISKRNE HCKMRREGDG TCSLHIESTT SDDDGNYTIM 

      1030       1040       1050       1060       1070       1080 
AANPQGRISC SGHLMVQSLP IRSRLTSAGQ SHRGRSRVQE RDKEPLQERF FRPHFLQAPG 

      1090       1100       1110       1120       1130       1140 
DMVAHEGRLC RLDCKVSGLP PPELTWLLNG QPVLPDASHK MLVRETGVHS LLIDPLTQRD 

      1150       1160       1170       1180       1190       1200 
AGTYKCIATN KTGQNSFSLE LSVVAKEVKK APVILEKLQN CGVPEGHPVR LECRVIGMPP 

      1210       1220       1230       1240       1250       1260 
PVFYWKKDNE TIPCTRERIS MHQDTTGYAC LLIQPAKKSD AGWYTLSAKN EAGIVSCTAR 

      1270       1280       1290       1300       1310       1320 
LDIYAQWHHQ IPPPMSVRPS GSRYGSLTSK GLDIFSAFSS MESTMVYSCS SRSVVESDEL 

« Hide

Isoform 2 [UniParc].

Checksum: DAA885A7A5ED7D46
Show »

FASTA1,045114,695
Isoform 3 [UniParc].

Checksum: BD8488478845DF39
Show »

FASTA50756,185

References

« Hide 'large scale' references
[1]"Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies."
Bang M.-L., Mudry R.E., McElhinny A.S., Trombitas K., Geach A.J., Yamasaki R., Sorimachi H., Granzier H., Gregorio C.C., Labeit S.
J. Cell Biol. 153:413-427(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH NEB; NEBL; ACTN2 AND CARP, VARIANTS ASN-691; ASN-707 AND ARG-803.
Tissue: Skeletal muscle.
[2]"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] (ISOFORM 3).
Tissue: Embryo.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Skeletal muscle.
[4]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin."
Ma K., Wang K.
FEBS Lett. 532:273-278(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH TTN.
[6]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-928, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-251; SER-759; SER-813; SER-818 AND SER-928, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-101; SER-813 AND SER-928, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations."
Purevjav E., Arimura T., Augustin S., Huby A.C., Takagi K., Nunoda S., Kearney D.L., Taylor M.D., Terasaki F., Bos J.M., Ommen S.R., Shibata H., Takahashi M., Itoh-Satoh M., McKenna W.J., Murphy R.T., Labeit S., Yamanaka Y. expand/collapse author list , Machida N., Park J.E., Alexander P.M., Weintraub R.G., Kitaura Y., Ackerman M.J., Kimura A., Towbin J.A.
Hum. Mol. Genet. 21:2039-2053(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RCM4, VARIANTS CHM22 CYS-20; ARG-153; GLU-217; ALA-410; THR-841; LEU-1112; ILE-1161 AND PRO-1265, VARIANTS CMD1KK CYS-20; VAL-213; PHE-339; THR-611; THR-882 AND LEU-954, VARIANTS ALA-393; LYS-467; LYS-614; LEU-628; ASN-691; ASN-707; ARG-803; ARG-804; GLN-955; THR-1135 AND GLY-1306, CHARACTERIZATION OF VARIANT CHM22 CYS-20.
[11]"Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy."
Duboscq-Bidot L., Xu P., Charron P., Neyroud N., Dilanian G., Millaire A., Bors V., Komajda M., Villard E.
Cardiovasc. Res. 77:118-125(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1KK HIS-1088; LEU-1112 AND MET-1195, CHARACTERIZATION OF VARIANTS CMD1KK LEU-1112 AND MET-1195.
[12]"Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy."
German Competence Network Heart Failure
Meyer T., Ruppert V., Ackermann S., Richter A., Perrot A., Sperling S.R., Posch M.G., Maisch B., Pankuweit S.
Eur. J. Hum. Genet. 21:294-300(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1KK TRP-955 AND LEU-961, VARIANTS ALA-393; LEU-628; ASN-691; ASN-707; ARG-803 AND THR-1135.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF328296 mRNA. Translation: AAK50625.1.
AK027343 mRNA. Translation: BAB55048.1.
AL832002 mRNA. Translation: CAD89906.1.
AL832379 mRNA. Translation: CAD91155.1.
AL834247 mRNA. Translation: CAD38923.2. Different initiation.
AL512429, AC016395, AC024258 Genomic DNA. Translation: CAH73747.1.
AL512429, AC016395, AC024258 Genomic DNA. Translation: CAH73748.1.
CCDSCCDS7275.1. [Q86TC9-1]
RefSeqNP_001243196.1. NM_001256267.1. [Q86TC9-1]
NP_115967.2. NM_032578.3. [Q86TC9-1]
UniGeneHs.55205.

3D structure databases

ProteinModelPortalQ86TC9.
SMRQ86TC9. Positions 226-534, 944-1279.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124185. 13 interactions.
IntActQ86TC9. 4 interactions.
MINTMINT-4724812.
STRING9606.ENSP00000351790.

PTM databases

PhosphoSiteQ86TC9.

Polymorphism databases

DMDM109892761.

Proteomic databases

MaxQBQ86TC9.
PaxDbQ86TC9.
PRIDEQ86TC9.

Protocols and materials databases

DNASU84665.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000354393; ENSP00000346369; ENSG00000138347. [Q86TC9-2]
ENST00000358913; ENSP00000351790; ENSG00000138347. [Q86TC9-1]
ENST00000373675; ENSP00000362779; ENSG00000138347. [Q86TC9-3]
GeneID84665.
KEGGhsa:84665.
UCSCuc001jnm.5. human. [Q86TC9-1]
uc001jnn.5. human. [Q86TC9-2]
uc001jnp.1. human. [Q86TC9-3]

Organism-specific databases

CTD84665.
GeneCardsGC10P069865.
H-InvDBHIX0008869.
HGNCHGNC:23246. MYPN.
HPAHPA036298.
MIM608517. gene.
615248. phenotype.
neXtProtNX_Q86TC9.
Orphanet154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
75249. Familial isolated restrictive cardiomyopathy.
PharmGKBPA134944534.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG136920.
HOVERGENHBG059166.
InParanoidQ86TC9.
OMAQSHRGRS.
OrthoDBEOG77WWBP.
PhylomeDBQ86TC9.
TreeFamTF343193.

Gene expression databases

ArrayExpressQ86TC9.
BgeeQ86TC9.
CleanExHS_MYPN.
GenevestigatorQ86TC9.

Family and domain databases

Gene3D2.60.40.10. 5 hits.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF07679. I-set. 5 hits.
[Graphical view]
SMARTSM00408. IGc2. 5 hits.
[Graphical view]
PROSITEPS50835. IG_LIKE. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMYPN.
GenomeRNAi84665.
NextBio74653.
PROQ86TC9.
SOURCESearch...

Entry information

Entry nameMYPN_HUMAN
AccessionPrimary (citable) accession number: Q86TC9
Secondary accession number(s): Q5VV35 expand/collapse secondary AC list , Q5VV36, Q86T37, Q8N3L4, Q96K90, Q96KF5
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: July 9, 2014
This is version 100 of the entry and version 2 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

SIMILARITY comments

Index of protein domains and families

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 10

Human chromosome 10: entries, gene names and cross-references to MIM