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Q86TC9

- MYPN_HUMAN

UniProt

Q86TC9 - MYPN_HUMAN

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Protein

Myopalladin

Gene

MYPN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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. SH3 domain binding Source: BHF-UCL

GO - Biological processi

  1. sarcomere organization Source: BHF-UCL
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ86TC9.
CleanExiHS_MYPN.
ExpressionAtlasiQ86TC9. baseline and differential.
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.
GeneTreeiENSGT00760000119215.
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

        10         20         30         40         50
MQDDSIEAST SISQLLRESY LAETRHRGNN ERSRAEPSSN PCHFGSPSGA
60 70 80 90 100
AEGGGGQDDL PDLSAFLSQE ELDESVNLAR LAINYDPLEK ADETQARKRL
110 120 130 140 150
SPDQMKHSPN LSFEPNFCQD NPRSPTSSKE SPQEAKRPQY CSETQSKKVF
160 170 180 190 200
LNKAADFIEE LSSLFKSHSS KRIRPRACKN HKSKLESQNK VMQENSSSFS
210 220 230 240 250
DLSERRERSS VPIPIPADTR DNEVNHALEQ QEAKRREAEQ AASEAAGGDT
260 270 280 290 300
TPGSSPSSLY YEEPLGQPPR FTQKLRSREV PEGTRVQLDC IVVGIPPPQV
310 320 330 340 350
RWYCEGKELE NSPDIHIVQA GNLHSLTIAE AFEEDTGRYS CFASNIYGTD
360 370 380 390 400
STSAEIYIEG VSSSDSEGDP NKEEMNRIQK PNEVSSPPTT SAVIPPAVPQ
410 420 430 440 450
AQHLVAQPRV ATIQQCQSPT NYLQGLDGKP IIAAPVFTKM LQNLSASEGQ
460 470 480 490 500
LVVFECRVKG APSPKVEWYR EGTLIEDSPD FRILQKKPRS MAEPEEICTL
510 520 530 540 550
VIAEVFAEDS GCFTCTASNK YGTVSSIAQL HVRGNEDLSN NGSLHSANST
560 570 580 590 600
TNLAAIEPQP SPPHSEPPSV EQPPKPKLEG VLVNHNEPRS SSRIGLRVHF
610 620 630 640 650
NLPEDDKGSE ASSEAGVVTT RQTRPDSFQE RFNGQATKTP EPSSPVKEPP
660 670 680 690 700
PVLAKPKLDS TQLQQLHNQV LLEQHQLQNP PPSSPKEFPF SMTVLNSNAP
710 720 730 740 750
PAVTTSSKQV KAPSSQTFSL ARPKYFFPST NTTAATVAPS SSPVFTLSST
760 770 780 790 800
PQTIQRTVSK ESLLVSHPSV QTKSPGGLSI QNEPLPPGPT EPTPPPFTFS
810 820 830 840 850
IPSGNQFQPR CVSPIPVSPT SRIQNPVAFL SSVLPSLPAI PPTNAMGLPR
860 870 880 890 900
SAPSMPSQGL AKKNTKSPQP VNDDNIRETK NAVIRDLGKK ITFSDVRPNQ
910 920 930 940 950
QEYKISSFEQ RLMNEIEFRL ERTPVDESDD EIQHDEIPTG KCIAPIFDKR
960 970 980 990 1000
LKHFRVTEGS PVTFTCKIVG IPVPKVYWFK DGKQISKRNE HCKMRREGDG
1010 1020 1030 1040 1050
TCSLHIESTT SDDDGNYTIM AANPQGRISC SGHLMVQSLP IRSRLTSAGQ
1060 1070 1080 1090 1100
SHRGRSRVQE RDKEPLQERF FRPHFLQAPG DMVAHEGRLC RLDCKVSGLP
1110 1120 1130 1140 1150
PPELTWLLNG QPVLPDASHK MLVRETGVHS LLIDPLTQRD AGTYKCIATN
1160 1170 1180 1190 1200
KTGQNSFSLE LSVVAKEVKK APVILEKLQN CGVPEGHPVR LECRVIGMPP
1210 1220 1230 1240 1250
PVFYWKKDNE TIPCTRERIS MHQDTTGYAC LLIQPAKKSD AGWYTLSAKN
1260 1270 1280 1290 1300
EAGIVSCTAR LDIYAQWHHQ IPPPMSVRPS GSRYGSLTSK GLDIFSAFSS
1310 1320
MESTMVYSCS SRSVVESDEL
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. Curated

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:
EMBLi
GenBanki
DDBJi
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]
ENST00000540630; ENSP00000441668; ENSG00000138347. [Q86TC9-1]
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:
EMBLi
GenBanki
DDBJi
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 ]
ENST00000540630 ; ENSP00000441668 ; ENSG00000138347 . [Q86TC9-1 ]
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.
GeneTreei ENSGT00760000119215.
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

Bgeei Q86TC9.
CleanExi HS_MYPN.
ExpressionAtlasi Q86TC9. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 102 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