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Protein

Myopalladin

Gene

MYPN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • cytoskeletal protein binding Source: BHF-UCL
  • muscle alpha-actinin binding Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL

GO - Biological processi

  • 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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23246. MYPN.

Subcellular locationi

GO - Cellular componenti

  • I band Source: BHF-UCL
  • nucleus Source: BHF-UCL
  • Z disc Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1KK (CMD1KK)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:615248
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06964220Y → C in CMH22 and CMD1KK; perturbs MYPN nuclear shuttling and leads to disruption of intercalated disks. 1 PublicationCorresponds to variant rs140148105dbSNPEnsembl.1
Natural variantiVAR_069644213I → V in CMD1KK. 1 PublicationCorresponds to variant rs199476402dbSNPEnsembl.1
Natural variantiVAR_069646339Y → F in CMD1KK. 1 PublicationCorresponds to variant rs199476404dbSNPEnsembl.1
Natural variantiVAR_069649611A → T in CMD1KK. 1 PublicationCorresponds to variant rs199476409dbSNPEnsembl.1
Natural variantiVAR_069653882A → T in CMD1KK. 1 PublicationCorresponds to variant rs199476411dbSNPEnsembl.1
Natural variantiVAR_069654954F → L in CMD1KK. 1 PublicationCorresponds to variant rs199476413dbSNPEnsembl.1
Natural variantiVAR_069656955R → W in CMD1KK; unknown pathological significance. 1 PublicationCorresponds to variant rs149887823dbSNPEnsembl.1
Natural variantiVAR_069657961P → L in CMD1KK. 1 Publication1
Natural variantiVAR_0696581088R → H in CMD1KK. 1 PublicationCorresponds to variant rs71584501dbSNPEnsembl.1
Natural variantiVAR_0696591112P → L in CMD1KK and CMH22; results in sarcomere disorganization and premature cell death. 2 PublicationsCorresponds to variant rs71534278dbSNPEnsembl.1
Natural variantiVAR_0696611195V → M in CMD1KK; results in sarcomere disorganization and premature cell death. 1 PublicationCorresponds to variant rs71534280dbSNPEnsembl.1
Cardiomyopathy, familial hypertrophic 22 (CMH22)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615248
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06964220Y → C in CMH22 and CMD1KK; perturbs MYPN nuclear shuttling and leads to disruption of intercalated disks. 1 PublicationCorresponds to variant rs140148105dbSNPEnsembl.1
Natural variantiVAR_069643153K → R in CMH22. 1 PublicationCorresponds to variant rs199476401dbSNPEnsembl.1
Natural variantiVAR_069645217A → E in CMH22. 1 PublicationCorresponds to variant rs199476403dbSNPEnsembl.1
Natural variantiVAR_069647410V → A in CMH22. 1 PublicationCorresponds to variant rs199476406dbSNPEnsembl.1
Natural variantiVAR_069652841P → T in CMH22. 1 PublicationCorresponds to variant rs199476410dbSNPEnsembl.1
Natural variantiVAR_0696591112P → L in CMD1KK and CMH22; results in sarcomere disorganization and premature cell death. 2 PublicationsCorresponds to variant rs71534278dbSNPEnsembl.1
Natural variantiVAR_0696621265A → P in CMH22. 1 PublicationCorresponds to variant rs199476416dbSNPEnsembl.1
Cardiomyopathy, familial restrictive 4 (RCM4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615248

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi84665.
MalaCardsiMYPN.
MIMi615248. phenotype.
OpenTargetsiENSG00000138347.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
75249. Familial isolated restrictive cardiomyopathy.
PharmGKBiPA134944534.

Polymorphism and mutation databases

BioMutaiMYPN.
DMDMi109892761.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002404891 – 1320MyopalladinAdd BLAST1320

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei101PhosphoserineCombined sources1
Modified residuei131PhosphoserineBy similarity1
Modified residuei251PhosphothreonineCombined sources1
Disulfide bondi290 ↔ 341PROSITE-ProRule annotation
Disulfide bondi456 ↔ 515PROSITE-ProRule annotation
Modified residuei644PhosphoserineCombined sources1
Modified residuei759PhosphoserineCombined sources1
Modified residuei813PhosphoserineCombined sources1
Modified residuei818PhosphoserineCombined sources1
Modified residuei867PhosphoserineCombined sources1
Modified residuei907PhosphoserineCombined sources1
Modified residuei928PhosphoserineCombined sources1
Disulfide bondi1094 ↔ 1146PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

EPDiQ86TC9.
MaxQBiQ86TC9.
PaxDbiQ86TC9.
PeptideAtlasiQ86TC9.
PRIDEiQ86TC9.

PTM databases

iPTMnetiQ86TC9.
PhosphoSitePlusiQ86TC9.

Expressioni

Tissue specificityi

Expressed in adult skeletal muscle and fetal heart.1 Publication

Gene expression databases

BgeeiENSG00000138347.
CleanExiHS_MYPN.
ExpressionAtlasiQ86TC9. baseline and differential.
GenevisibleiQ86TC9. HS.

Organism-specific databases

HPAiHPA061494.

Interactioni

Subunit structurei

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

Binary interactionsi

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

GO - Molecular functioni

  • cytoskeletal protein binding Source: BHF-UCL
  • muscle alpha-actinin binding Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi124185. 19 interactors.
IntActiQ86TC9. 9 interactors.
MINTiMINT-4724812.
STRINGi9606.ENSP00000351790.

Structurei

3D structure databases

ProteinModelPortaliQ86TC9.
SMRiQ86TC9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini269 – 359Ig-like 1Add BLAST91
Domaini435 – 531Ig-like 2Add BLAST97
Domaini945 – 1029Ig-like 3Add BLAST85
Domaini1073 – 1162Ig-like 4Add BLAST90
Domaini1172 – 1262Ig-like 5Add BLAST91

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 522Interaction with CARP1 PublicationAdd BLAST522
Regioni649 – 677Interaction with NEB1 PublicationAdd BLAST29
Regioni945 – 1320Interaction with ACTNAdd BLAST376

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili219 – 248Sequence analysisAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi53 – 56Poly-Gly4
Compositional biasi784 – 856Pro-richAdd BLAST73

Sequence similaritiesi

Belongs to the myotilin/palladin family.Curated

Keywords - Domaini

Coiled coil, Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiENOG410IGH0. Eukaryota.
ENOG41103YT. LUCA.
GeneTreeiENSGT00840000129779.
HOVERGENiHBG059166.
InParanoidiQ86TC9.
OMAiQSHRGRS.
OrthoDBiEOG091G011D.
PhylomeDBiQ86TC9.
TreeFamiTF343193.

Family and domain databases

Gene3Di2.60.40.10. 5 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF07679. I-set. 5 hits.
[Graphical view]
SMARTiSM00409. IG. 5 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 5 hits.
PROSITEiPS50835. IG_LIKE. 5 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti139Q → R in CAD89906 (PubMed:14702039).Curated1
Sequence conflicti484L → S in CAD89906 (PubMed:14702039).Curated1
Sequence conflicti509D → G in CAD89906 (PubMed:14702039).Curated1
Sequence conflicti601N → D in CAD89906 (PubMed:14702039).Curated1
Sequence conflicti677L → S in CAD89906 (PubMed:14702039).Curated1
Sequence conflicti908F → L in CAD89906 (PubMed:14702039).Curated1
Sequence conflicti991H → R in CAD38923 (PubMed:14702039).Curated1
Sequence conflicti1078A → T in CAD91155 (PubMed:14702039).Curated1
Sequence conflicti1118S → P in CAD38923 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06964220Y → C in CMH22 and CMD1KK; perturbs MYPN nuclear shuttling and leads to disruption of intercalated disks. 1 PublicationCorresponds to variant rs140148105dbSNPEnsembl.1
Natural variantiVAR_069643153K → R in CMH22. 1 PublicationCorresponds to variant rs199476401dbSNPEnsembl.1
Natural variantiVAR_069644213I → V in CMD1KK. 1 PublicationCorresponds to variant rs199476402dbSNPEnsembl.1
Natural variantiVAR_069645217A → E in CMH22. 1 PublicationCorresponds to variant rs199476403dbSNPEnsembl.1
Natural variantiVAR_069646339Y → F in CMD1KK. 1 PublicationCorresponds to variant rs199476404dbSNPEnsembl.1
Natural variantiVAR_049911393V → A.2 PublicationsCorresponds to variant rs11596653dbSNPEnsembl.1
Natural variantiVAR_069647410V → A in CMH22. 1 PublicationCorresponds to variant rs199476406dbSNPEnsembl.1
Natural variantiVAR_069648467E → K.1 PublicationCorresponds to variant rs74143030dbSNPEnsembl.1
Natural variantiVAR_069649611A → T in CMD1KK. 1 PublicationCorresponds to variant rs199476409dbSNPEnsembl.1
Natural variantiVAR_069650614E → K.1 PublicationCorresponds to variant rs143338091dbSNPEnsembl.1
Natural variantiVAR_049912628F → L.2 PublicationsCorresponds to variant rs10823148dbSNPEnsembl.1
Natural variantiVAR_026727691S → N.3 PublicationsCorresponds to variant rs10997975dbSNPEnsembl.1
Natural variantiVAR_074186698N → S.1 PublicationCorresponds to variant rs181355189dbSNPEnsembl.1
Natural variantiVAR_026728707S → N.3 PublicationsCorresponds to variant rs7916821dbSNPEnsembl.1
Natural variantiVAR_026729803S → R.3 PublicationsCorresponds to variant rs3814182dbSNPEnsembl.1
Natural variantiVAR_069651804G → R.1 PublicationCorresponds to variant rs62620248dbSNPEnsembl.1
Natural variantiVAR_069652841P → T in CMH22. 1 PublicationCorresponds to variant rs199476410dbSNPEnsembl.1
Natural variantiVAR_069653882A → T in CMD1KK. 1 PublicationCorresponds to variant rs199476411dbSNPEnsembl.1
Natural variantiVAR_069654954F → L in CMD1KK. 1 PublicationCorresponds to variant rs199476413dbSNPEnsembl.1
Natural variantiVAR_069655955R → Q.1 PublicationCorresponds to variant rs199476414dbSNPEnsembl.1
Natural variantiVAR_069656955R → W in CMD1KK; unknown pathological significance. 1 PublicationCorresponds to variant rs149887823dbSNPEnsembl.1
Natural variantiVAR_069657961P → L in CMD1KK. 1 Publication1
Natural variantiVAR_0696581088R → H in CMD1KK. 1 PublicationCorresponds to variant rs71584501dbSNPEnsembl.1
Natural variantiVAR_0696591112P → L in CMD1KK and CMH22; results in sarcomere disorganization and premature cell death. 2 PublicationsCorresponds to variant rs71534278dbSNPEnsembl.1
Natural variantiVAR_0499131135P → T.2 PublicationsCorresponds to variant rs7079481dbSNPEnsembl.1
Natural variantiVAR_0696601161L → I.2 PublicationsCorresponds to variant rs138313730dbSNPEnsembl.1
Natural variantiVAR_0696611195V → M in CMD1KK; results in sarcomere disorganization and premature cell death. 1 PublicationCorresponds to variant rs71534280dbSNPEnsembl.1
Natural variantiVAR_0696621265A → P in CMH22. 1 PublicationCorresponds to variant rs199476416dbSNPEnsembl.1
Natural variantiVAR_0696631306V → G.1 PublicationCorresponds to variant rs199476417dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0193841 – 275Missing in isoform 2. 1 PublicationAdd BLAST275
Alternative sequenceiVSP_019385276 – 301RSREV…PPQVR → MLTVQVKTSSAIELPDSLAF LWIIPM in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_019386495 – 507EEICT…AEVFA → GKDDFNFNLLVYE in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_019387508 – 1320Missing in isoform 3. 1 PublicationAdd BLAST813

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]
XP_016872323.1. XM_017016834.1. [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.6. human. [Q86TC9-1]

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.
CCDSiCCDS7275.1. [Q86TC9-1]
RefSeqiNP_001243196.1. NM_001256267.1. [Q86TC9-1]
NP_115967.2. NM_032578.3. [Q86TC9-1]
XP_016872323.1. XM_017016834.1. [Q86TC9-1]
UniGeneiHs.55205.

3D structure databases

ProteinModelPortaliQ86TC9.
SMRiQ86TC9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124185. 19 interactors.
IntActiQ86TC9. 9 interactors.
MINTiMINT-4724812.
STRINGi9606.ENSP00000351790.

PTM databases

iPTMnetiQ86TC9.
PhosphoSitePlusiQ86TC9.

Polymorphism and mutation databases

BioMutaiMYPN.
DMDMi109892761.

Proteomic databases

EPDiQ86TC9.
MaxQBiQ86TC9.
PaxDbiQ86TC9.
PeptideAtlasiQ86TC9.
PRIDEiQ86TC9.

Protocols and materials databases

DNASUi84665.
Structural Biology KnowledgebaseSearch...

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.6. human. [Q86TC9-1]

Organism-specific databases

CTDi84665.
DisGeNETi84665.
GeneCardsiMYPN.
H-InvDBHIX0008869.
HGNCiHGNC:23246. MYPN.
HPAiHPA061494.
MalaCardsiMYPN.
MIMi608517. gene.
615248. phenotype.
neXtProtiNX_Q86TC9.
OpenTargetsiENSG00000138347.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
75249. Familial isolated restrictive cardiomyopathy.
PharmGKBiPA134944534.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGH0. Eukaryota.
ENOG41103YT. LUCA.
GeneTreeiENSGT00840000129779.
HOVERGENiHBG059166.
InParanoidiQ86TC9.
OMAiQSHRGRS.
OrthoDBiEOG091G011D.
PhylomeDBiQ86TC9.
TreeFamiTF343193.

Miscellaneous databases

GeneWikiiMYPN.
GenomeRNAii84665.
PROiQ86TC9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138347.
CleanExiHS_MYPN.
ExpressionAtlasiQ86TC9. baseline and differential.
GenevisibleiQ86TC9. HS.

Family and domain databases

Gene3Di2.60.40.10. 5 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF07679. I-set. 5 hits.
[Graphical view]
SMARTiSM00409. IG. 5 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 5 hits.
PROSITEiPS50835. IG_LIKE. 5 hits.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 122 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.