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Q86TC9

- MYPN_HUMAN

UniProt

Q86TC9 - MYPN_HUMAN

Protein

Myopalladin

Gene

MYPN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 2 (27 Jun 2006)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. cytoskeletal protein binding Source: BHF-UCL
    2. muscle alpha-actinin binding Source: BHF-UCL
    3. protein binding Source: IntAct
    4. SH3 domain binding Source: BHF-UCL

    GO - Biological processi

    1. sarcomere organization Source: BHF-UCL

    Keywords - Ligandi

    Actin-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myopalladin
    Alternative name(s):
    145 kDa sarcomeric protein
    Gene namesi
    Name:MYPN
    Synonyms:MYOP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23246. MYPN.

    Subcellular locationi

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

    GO - Cellular componenti

    1. I band Source: BHF-UCL
    2. nucleus Source: BHF-UCL
    3. Z disc Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201Y → C in CHM22 and CMD1KK; perturbs MYPN nuclear shuttling and leads to disruption of intercalated disks. 1 Publication
    Corresponds to variant rs140148105 [ dbSNP | Ensembl ].
    VAR_069642
    Natural varianti213 – 2131I → V in CMD1KK. 1 Publication
    Corresponds to variant rs199476402 [ dbSNP | Ensembl ].
    VAR_069644
    Natural varianti339 – 3391Y → F in CMD1KK. 1 Publication
    Corresponds to variant rs199476404 [ dbSNP | Ensembl ].
    VAR_069646
    Natural varianti611 – 6111A → T in CMD1KK. 1 Publication
    Corresponds to variant rs199476409 [ dbSNP | Ensembl ].
    VAR_069649
    Natural varianti882 – 8821A → T in CMD1KK. 1 Publication
    Corresponds to variant rs199476411 [ dbSNP | Ensembl ].
    VAR_069653
    Natural varianti954 – 9541F → L in CMD1KK. 1 Publication
    Corresponds to variant rs199476413 [ dbSNP | Ensembl ].
    VAR_069654
    Natural varianti955 – 9551R → W in CMD1KK; unknown pathological significance. 1 Publication
    Corresponds to variant rs149887823 [ dbSNP | Ensembl ].
    VAR_069656
    Natural varianti961 – 9611P → L in CMD1KK. 1 Publication
    VAR_069657
    Natural varianti1088 – 10881R → H in CMD1KK. 1 Publication
    Corresponds to variant rs71584501 [ dbSNP | Ensembl ].
    VAR_069658
    Natural varianti1112 – 11121P → L in CMD1KK and CHM22; results in sarcomere disorganization and premature cell death. 2 Publications
    VAR_069659
    Natural varianti1195 – 11951V → M in CMD1KK; results in sarcomere disorganization and premature cell death. 1 Publication
    Corresponds to variant rs71534280 [ dbSNP | Ensembl ].
    VAR_069661
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi615248. phenotype.
    Orphaneti154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    75249. Familial isolated restrictive cardiomyopathy.
    PharmGKBiPA134944534.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13201320MyopalladinPRO_0000240489Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei101 – 1011Phosphoserine1 Publication
    Modified residuei251 – 2511Phosphothreonine1 Publication
    Disulfide bondi290 ↔ 341PROSITE-ProRule annotation
    Disulfide bondi456 ↔ 515PROSITE-ProRule annotation
    Modified residuei759 – 7591Phosphoserine1 Publication
    Modified residuei813 – 8131Phosphoserine2 Publications
    Modified residuei818 – 8181Phosphoserine1 Publication
    Modified residuei928 – 9281Phosphoserine3 Publications
    Disulfide bondi1094 ↔ 1146PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Phosphoprotein

    Proteomic databases

    MaxQBiQ86TC9.
    PaxDbiQ86TC9.
    PRIDEiQ86TC9.

    PTM databases

    PhosphoSiteiQ86TC9.

    Expressioni

    Tissue specificityi

    Expressed in adult skeletal muscle and fetal heart.1 Publication

    Gene expression databases

    ArrayExpressiQ86TC9.
    BgeeiQ86TC9.
    CleanExiHS_MYPN.
    GenevestigatoriQ86TC9.

    Organism-specific databases

    HPAiHPA036298.

    Interactioni

    Subunit structurei

    Interacts with TTN/titin, NEB, NEBL, ACTN2 and CARP.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NEBP209292EBI-2562606,EBI-1049657

    Protein-protein interaction databases

    BioGridi124185. 13 interactions.
    IntActiQ86TC9. 4 interactions.
    MINTiMINT-4724812.
    STRINGi9606.ENSP00000351790.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86TC9.
    SMRiQ86TC9. Positions 226-534, 944-1279.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini269 – 35991Ig-like 1Add
    BLAST
    Domaini435 – 53197Ig-like 2Add
    BLAST
    Domaini945 – 102985Ig-like 3Add
    BLAST
    Domaini1073 – 116290Ig-like 4Add
    BLAST
    Domaini1172 – 126291Ig-like 5Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 522522Interaction with CARPAdd
    BLAST
    Regioni649 – 67729Interaction with NEBAdd
    BLAST
    Regioni945 – 1320376Interaction with ACTNAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili219 – 24830Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi53 – 564Poly-Gly
    Compositional biasi784 – 85673Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the myotilin/palladin family.Curated

    Keywords - Domaini

    Coiled coil, Immunoglobulin domain, Repeat

    Phylogenomic databases

    eggNOGiNOG136920.
    HOVERGENiHBG059166.
    InParanoidiQ86TC9.
    OMAiQSHRGRS.
    OrthoDBiEOG77WWBP.
    PhylomeDBiQ86TC9.
    TreeFamiTF343193.

    Family and domain databases

    Gene3Di2.60.40.10. 5 hits.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003598. Ig_sub2.
    [Graphical view]
    PfamiPF07679. I-set. 5 hits.
    [Graphical view]
    SMARTiSM00408. IGc2. 5 hits.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 5 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q86TC9-1) [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

    MQDDSIEAST SISQLLRESY LAETRHRGNN ERSRAEPSSN PCHFGSPSGA     50
    AEGGGGQDDL PDLSAFLSQE ELDESVNLAR LAINYDPLEK ADETQARKRL 100
    SPDQMKHSPN LSFEPNFCQD NPRSPTSSKE SPQEAKRPQY CSETQSKKVF 150
    LNKAADFIEE LSSLFKSHSS KRIRPRACKN HKSKLESQNK VMQENSSSFS 200
    DLSERRERSS VPIPIPADTR DNEVNHALEQ QEAKRREAEQ AASEAAGGDT 250
    TPGSSPSSLY YEEPLGQPPR FTQKLRSREV PEGTRVQLDC IVVGIPPPQV 300
    RWYCEGKELE NSPDIHIVQA GNLHSLTIAE AFEEDTGRYS CFASNIYGTD 350
    STSAEIYIEG VSSSDSEGDP NKEEMNRIQK PNEVSSPPTT SAVIPPAVPQ 400
    AQHLVAQPRV ATIQQCQSPT NYLQGLDGKP IIAAPVFTKM LQNLSASEGQ 450
    LVVFECRVKG APSPKVEWYR EGTLIEDSPD FRILQKKPRS MAEPEEICTL 500
    VIAEVFAEDS GCFTCTASNK YGTVSSIAQL HVRGNEDLSN NGSLHSANST 550
    TNLAAIEPQP SPPHSEPPSV EQPPKPKLEG VLVNHNEPRS SSRIGLRVHF 600
    NLPEDDKGSE ASSEAGVVTT RQTRPDSFQE RFNGQATKTP EPSSPVKEPP 650
    PVLAKPKLDS TQLQQLHNQV LLEQHQLQNP PPSSPKEFPF SMTVLNSNAP 700
    PAVTTSSKQV KAPSSQTFSL ARPKYFFPST NTTAATVAPS SSPVFTLSST 750
    PQTIQRTVSK ESLLVSHPSV QTKSPGGLSI QNEPLPPGPT EPTPPPFTFS 800
    IPSGNQFQPR CVSPIPVSPT SRIQNPVAFL SSVLPSLPAI PPTNAMGLPR 850
    SAPSMPSQGL AKKNTKSPQP VNDDNIRETK NAVIRDLGKK ITFSDVRPNQ 900
    QEYKISSFEQ RLMNEIEFRL ERTPVDESDD EIQHDEIPTG KCIAPIFDKR 950
    LKHFRVTEGS PVTFTCKIVG IPVPKVYWFK DGKQISKRNE HCKMRREGDG 1000
    TCSLHIESTT SDDDGNYTIM AANPQGRISC SGHLMVQSLP IRSRLTSAGQ 1050
    SHRGRSRVQE RDKEPLQERF FRPHFLQAPG DMVAHEGRLC RLDCKVSGLP 1100
    PPELTWLLNG QPVLPDASHK MLVRETGVHS LLIDPLTQRD AGTYKCIATN 1150
    KTGQNSFSLE LSVVAKEVKK APVILEKLQN CGVPEGHPVR LECRVIGMPP 1200
    PVFYWKKDNE TIPCTRERIS MHQDTTGYAC LLIQPAKKSD AGWYTLSAKN 1250
    EAGIVSCTAR LDIYAQWHHQ IPPPMSVRPS GSRYGSLTSK GLDIFSAFSS 1300
    MESTMVYSCS SRSVVESDEL 1320
    Length:1,320
    Mass (Da):145,257
    Last modified:June 27, 2006 - v2
    Checksum:iFD59508CB611A9A9
    GO
    Isoform 2 (identifier: Q86TC9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-275: Missing.
         276-301: RSREVPEGTRVQLDCIVVGIPPPQVR → MLTVQVKTSSAIELPDSLAFLWIIPM

    Note: No experimental confirmation available.

    Show »
    Length:1,045
    Mass (Da):114,695
    Checksum:iDAA885A7A5ED7D46
    GO
    Isoform 3 (identifier: Q86TC9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         495-507: EEICTLVIAEVFA → GKDDFNFNLLVYE
         508-1320: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:507
    Mass (Da):56,185
    Checksum:iBD8488478845DF39
    GO

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti139 – 1391Q → R in CAD89906. (PubMed:14702039)Curated
    Sequence conflicti484 – 4841L → S in CAD89906. (PubMed:14702039)Curated
    Sequence conflicti509 – 5091D → G in CAD89906. (PubMed:14702039)Curated
    Sequence conflicti601 – 6011N → D in CAD89906. (PubMed:14702039)Curated
    Sequence conflicti677 – 6771L → S in CAD89906. (PubMed:14702039)Curated
    Sequence conflicti908 – 9081F → L in CAD89906. (PubMed:14702039)Curated
    Sequence conflicti991 – 9911H → R in CAD38923. (PubMed:14702039)Curated
    Sequence conflicti1078 – 10781A → T in CAD91155. (PubMed:14702039)Curated
    Sequence conflicti1118 – 11181S → P in CAD38923. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201Y → C in CHM22 and CMD1KK; perturbs MYPN nuclear shuttling and leads to disruption of intercalated disks. 1 Publication
    Corresponds to variant rs140148105 [ dbSNP | Ensembl ].
    VAR_069642
    Natural varianti153 – 1531K → R in CHM22. 1 Publication
    Corresponds to variant rs199476401 [ dbSNP | Ensembl ].
    VAR_069643
    Natural varianti213 – 2131I → V in CMD1KK. 1 Publication
    Corresponds to variant rs199476402 [ dbSNP | Ensembl ].
    VAR_069644
    Natural varianti217 – 2171A → E in CHM22. 1 Publication
    Corresponds to variant rs199476403 [ dbSNP | Ensembl ].
    VAR_069645
    Natural varianti339 – 3391Y → F in CMD1KK. 1 Publication
    Corresponds to variant rs199476404 [ dbSNP | Ensembl ].
    VAR_069646
    Natural varianti393 – 3931V → A.2 Publications
    Corresponds to variant rs11596653 [ dbSNP | Ensembl ].
    VAR_049911
    Natural varianti410 – 4101V → A in CHM22. 1 Publication
    Corresponds to variant rs199476406 [ dbSNP | Ensembl ].
    VAR_069647
    Natural varianti467 – 4671E → K.1 Publication
    Corresponds to variant rs74143030 [ dbSNP | Ensembl ].
    VAR_069648
    Natural varianti611 – 6111A → T in CMD1KK. 1 Publication
    Corresponds to variant rs199476409 [ dbSNP | Ensembl ].
    VAR_069649
    Natural varianti614 – 6141E → K.1 Publication
    Corresponds to variant rs143338091 [ dbSNP | Ensembl ].
    VAR_069650
    Natural varianti628 – 6281F → L.2 Publications
    Corresponds to variant rs10823148 [ dbSNP | Ensembl ].
    VAR_049912
    Natural varianti691 – 6911S → N.3 Publications
    Corresponds to variant rs10997975 [ dbSNP | Ensembl ].
    VAR_026727
    Natural varianti707 – 7071S → N.3 Publications
    Corresponds to variant rs7916821 [ dbSNP | Ensembl ].
    VAR_026728
    Natural varianti803 – 8031S → R.3 Publications
    Corresponds to variant rs3814182 [ dbSNP | Ensembl ].
    VAR_026729
    Natural varianti804 – 8041G → R.1 Publication
    Corresponds to variant rs62620248 [ dbSNP | Ensembl ].
    VAR_069651
    Natural varianti841 – 8411P → T in CHM22. 1 Publication
    Corresponds to variant rs199476410 [ dbSNP | Ensembl ].
    VAR_069652
    Natural varianti882 – 8821A → T in CMD1KK. 1 Publication
    Corresponds to variant rs199476411 [ dbSNP | Ensembl ].
    VAR_069653
    Natural varianti954 – 9541F → L in CMD1KK. 1 Publication
    Corresponds to variant rs199476413 [ dbSNP | Ensembl ].
    VAR_069654
    Natural varianti955 – 9551R → Q.1 Publication
    Corresponds to variant rs199476414 [ dbSNP | Ensembl ].
    VAR_069655
    Natural varianti955 – 9551R → W in CMD1KK; unknown pathological significance. 1 Publication
    Corresponds to variant rs149887823 [ dbSNP | Ensembl ].
    VAR_069656
    Natural varianti961 – 9611P → L in CMD1KK. 1 Publication
    VAR_069657
    Natural varianti1088 – 10881R → H in CMD1KK. 1 Publication
    Corresponds to variant rs71584501 [ dbSNP | Ensembl ].
    VAR_069658
    Natural varianti1112 – 11121P → L in CMD1KK and CHM22; results in sarcomere disorganization and premature cell death. 2 Publications
    VAR_069659
    Natural varianti1135 – 11351P → T.2 Publications
    Corresponds to variant rs7079481 [ dbSNP | Ensembl ].
    VAR_049913
    Natural varianti1161 – 11611L → I in CHM22. 1 Publication
    Corresponds to variant rs138313730 [ dbSNP | Ensembl ].
    VAR_069660
    Natural varianti1195 – 11951V → M in CMD1KK; results in sarcomere disorganization and premature cell death. 1 Publication
    Corresponds to variant rs71534280 [ dbSNP | Ensembl ].
    VAR_069661
    Natural varianti1265 – 12651A → P in CHM22. 1 Publication
    Corresponds to variant rs199476416 [ dbSNP | Ensembl ].
    VAR_069662
    Natural varianti1306 – 13061V → G.1 Publication
    Corresponds to variant rs199476417 [ dbSNP | Ensembl ].
    VAR_069663

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 275275Missing in isoform 2. 1 PublicationVSP_019384Add
    BLAST
    Alternative sequencei276 – 30126RSREV…PPQVR → MLTVQVKTSSAIELPDSLAF LWIIPM in isoform 2. 1 PublicationVSP_019385Add
    BLAST
    Alternative sequencei495 – 50713EEICT…AEVFA → GKDDFNFNLLVYE in isoform 3. 1 PublicationVSP_019386Add
    BLAST
    Alternative sequencei508 – 1320813Missing in isoform 3. 1 PublicationVSP_019387Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS7275.1. [Q86TC9-1]
    RefSeqiNP_001243196.1. NM_001256267.1. [Q86TC9-1]
    NP_115967.2. NM_032578.3. [Q86TC9-1]
    UniGeneiHs.55205.

    Genome annotation databases

    EnsembliENST00000354393; ENSP00000346369; ENSG00000138347. [Q86TC9-2]
    ENST00000358913; ENSP00000351790; ENSG00000138347. [Q86TC9-1]
    ENST00000373675; ENSP00000362779; ENSG00000138347. [Q86TC9-3]
    GeneIDi84665.
    KEGGihsa:84665.
    UCSCiuc001jnm.5. human. [Q86TC9-1]
    uc001jnn.5. human. [Q86TC9-2]
    uc001jnp.1. human. [Q86TC9-3]

    Polymorphism databases

    DMDMi109892761.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS7275.1. [Q86TC9-1 ]
    RefSeqi NP_001243196.1. NM_001256267.1. [Q86TC9-1 ]
    NP_115967.2. NM_032578.3. [Q86TC9-1 ]
    UniGenei Hs.55205.

    3D structure databases

    ProteinModelPortali Q86TC9.
    SMRi Q86TC9. Positions 226-534, 944-1279.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124185. 13 interactions.
    IntActi Q86TC9. 4 interactions.
    MINTi MINT-4724812.
    STRINGi 9606.ENSP00000351790.

    PTM databases

    PhosphoSitei Q86TC9.

    Polymorphism databases

    DMDMi 109892761.

    Proteomic databases

    MaxQBi Q86TC9.
    PaxDbi Q86TC9.
    PRIDEi Q86TC9.

    Protocols and materials databases

    DNASUi 84665.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000354393 ; ENSP00000346369 ; ENSG00000138347 . [Q86TC9-2 ]
    ENST00000358913 ; ENSP00000351790 ; ENSG00000138347 . [Q86TC9-1 ]
    ENST00000373675 ; ENSP00000362779 ; ENSG00000138347 . [Q86TC9-3 ]
    GeneIDi 84665.
    KEGGi hsa:84665.
    UCSCi uc001jnm.5. human. [Q86TC9-1 ]
    uc001jnn.5. human. [Q86TC9-2 ]
    uc001jnp.1. human. [Q86TC9-3 ]

    Organism-specific databases

    CTDi 84665.
    GeneCardsi GC10P069865.
    H-InvDB HIX0008869.
    HGNCi HGNC:23246. MYPN.
    HPAi HPA036298.
    MIMi 608517. gene.
    615248. phenotype.
    neXtProti NX_Q86TC9.
    Orphaneti 154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    75249. Familial isolated restrictive cardiomyopathy.
    PharmGKBi PA134944534.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG136920.
    HOVERGENi HBG059166.
    InParanoidi Q86TC9.
    OMAi QSHRGRS.
    OrthoDBi EOG77WWBP.
    PhylomeDBi Q86TC9.
    TreeFami TF343193.

    Miscellaneous databases

    GeneWikii MYPN.
    GenomeRNAii 84665.
    NextBioi 74653.
    PROi Q86TC9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86TC9.
    Bgeei Q86TC9.
    CleanExi HS_MYPN.
    Genevestigatori Q86TC9.

    Family and domain databases

    Gene3Di 2.60.40.10. 5 hits.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003598. Ig_sub2.
    [Graphical view ]
    Pfami PF07679. I-set. 5 hits.
    [Graphical view ]
    SMARTi SM00408. IGc2. 5 hits.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.
      , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. 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. Cited for: VARIANTS CMD1KK TRP-955 AND LEU-961, VARIANTS ALA-393; LEU-628; ASN-691; ASN-707; ARG-803 AND THR-1135.

    Entry informationi

    Entry nameiMYPN_HUMAN
    AccessioniPrimary (citable) accession number: Q86TC9
    Secondary accession number(s): Q5VV35
    , Q5VV36, Q86T37, Q8N3L4, Q96K90, Q96KF5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 101 of the entry and version 2 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 10
      Human chromosome 10: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3