Q86TC9 (MYPN_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 87.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Myopalladin Alternative name(s): 145 kDa sarcomeric protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1320 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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. Cytoplasm › myofibril › sarcomere. 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 |
| 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. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Immunoglobulin domain Repeat |
| Ligand | Actin-binding |
| PTM | Disulfide bond Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | sarcomere organization Inferred from mutant phenotype Ref.1. Source: BHF-UCL |
| Cellular_component | I band Inferred from direct assay Ref.1. Source: BHF-UCL Z discInferred from electronic annotation. Source: Compara microtubule cytoskeletonInferred from direct assay. Source: HPA nucleusInferred from sequence or structural similarity. Source: BHF-UCL |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1320 | 1320 | Myopalladin | PRO_0000240489 | |||||||
Regions | |||||||||||
| Domain | 269 – 359 | 91 | Ig-like 1 | ||||||||
| Domain | 435 – 531 | 97 | Ig-like 2 | ||||||||
| Domain | 945 – 1029 | 85 | Ig-like 3 | ||||||||
| Domain | 1073 – 1162 | 90 | Ig-like 4 | ||||||||
| Domain | 1172 – 1262 | 91 | Ig-like 5 | ||||||||
| Region | 1 – 522 | 522 | Interaction with CARP | ||||||||
| Region | 649 – 677 | 29 | Interaction with NEB | ||||||||
| Region | 945 – 1320 | 376 | Interaction with ACTN | ||||||||
| Coiled coil | 219 – 248 | 30 | Potential | ||||||||
| Compositional bias | 53 – 56 | 4 | Poly-Gly | ||||||||
| Compositional bias | 784 – 856 | 73 | Pro-rich | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 101 | 1 | Phosphoserine Ref.8 | ||||||||
| Modified residue | 251 | 1 | Phosphothreonine Ref.7 | ||||||||
| Modified residue | 759 | 1 | Phosphoserine Ref.7 | ||||||||
| Modified residue | 813 | 1 | Phosphoserine Ref.7 Ref.8 | ||||||||
| Modified residue | 818 | 1 | Phosphoserine Ref.7 | ||||||||
| Modified residue | 928 | 1 | Phosphoserine Ref.6 Ref.7 Ref.8 | ||||||||
| Disulfide bond | 290 ↔ 341 | By similarity | |||||||||
| Disulfide bond | 456 ↔ 515 | By similarity | |||||||||
| Disulfide bond | 1094 ↔ 1146 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 275 | 275 | Missing in isoform 2. | VSP_019384 | |||||||
| Alternative sequence | 276 – 301 | 26 | RSREV…PPQVR → MLTVQVKTSSAIELPDSLAF LWIIPM in isoform 2. | VSP_019385 | |||||||
| Alternative sequence | 495 – 507 | 13 | EEICT…AEVFA → GKDDFNFNLLVYE in isoform 3. | VSP_019386 | |||||||
| Alternative sequence | 508 – 1320 | 813 | Missing in isoform 3. | VSP_019387 | |||||||
| Natural variant | 393 | 1 | V → A. Corresponds to variant rs11596653 [ dbSNP | Ensembl ]. | VAR_049911 | |||||||
| Natural variant | 628 | 1 | F → L. Corresponds to variant rs10823148 [ dbSNP | Ensembl ]. | VAR_049912 | |||||||
| Natural variant | 691 | 1 | S → N. Ref.1 Corresponds to variant rs10997975 [ dbSNP | Ensembl ]. | VAR_026727 | |||||||
| Natural variant | 707 | 1 | S → N. Ref.1 Corresponds to variant rs7916821 [ dbSNP | Ensembl ]. | VAR_026728 | |||||||
| Natural variant | 803 | 1 | S → R. Ref.1 Corresponds to variant rs3814182 [ dbSNP | Ensembl ]. | VAR_026729 | |||||||
| Natural variant | 1135 | 1 | P → T. Corresponds to variant rs7079481 [ dbSNP | Ensembl ]. | VAR_049913 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 139 | 1 | Q → R in CAD89906. Ref.2 | ||||||||
| Sequence conflict | 484 | 1 | L → S in CAD89906. Ref.2 | ||||||||
| Sequence conflict | 509 | 1 | D → G in CAD89906. Ref.2 | ||||||||
| Sequence conflict | 601 | 1 | N → D in CAD89906. Ref.2 | ||||||||
| Sequence conflict | 677 | 1 | L → S in CAD89906. Ref.2 | ||||||||
| Sequence conflict | 908 | 1 | F → L in CAD89906. Ref.2 | ||||||||
| Sequence conflict | 991 | 1 | H → R in CAD38923. Ref.2 | ||||||||
| Sequence conflict | 1078 | 1 | A → T in CAD91155. Ref.2 | ||||||||
| Sequence conflict | 1118 | 1 | S → P in CAD38923. Ref.2 | ||||||||
Sequences
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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. 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. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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]. |
| + | 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. |
| IPI | IPI00477680. IPI00645179. IPI00871200. |
| RefSeq | NP_001243196.1. NM_001256267.1. NP_115967.2. NM_032578.3. |
| UniGene | Hs.55205. |
3D structure databases | |
| ProteinModelPortal | Q86TC9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q86TC9. 2 interactions. |
| STRING | 9606.ENSP00000351790. |
PTM databases | |
| PhosphoSite | Q86TC9. |
Polymorphism databases | |
| DMDM | 109892761. |
Proteomic databases | |
| PaxDb | Q86TC9. |
| PRIDE | Q86TC9. |
Protocols and materials databases | |
| DNASU | 84665. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000354393; ENSP00000346369; ENSG00000138347. ENST00000358913; ENSP00000351790; ENSG00000138347. ENST00000373675; ENSP00000362779; ENSG00000138347. |
| GeneID | 84665. |
| KEGG | hsa:84665. |
| UCSC | uc001jnm.4. human. uc001jnn.4. human. uc001jnp.1. human. |
Organism-specific databases | |
| CTD | 84665. |
| GeneCards | GC10P069865. |
| H-InvDB | HIX0008869. |
| HGNC | HGNC:23246. MYPN. |
| HPA | HPA036298. |
| MIM | 608517. gene. |
| neXtProt | NX_Q86TC9. |
| PharmGKB | PA134944534. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG136920. |
| HOVERGEN | HBG059166. |
| InParanoid | Q86TC9. |
| OMA | YWKKDNE. |
Gene expression databases | |
| ArrayExpress | Q86TC9. |
| Bgee | Q86TC9. |
| CleanEx | HS_MYPN. |
| Genevestigator | Q86TC9. |
| GermOnline | ENSG00000138347. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.40.10. 5 hits. |
| InterPro | IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003598. Ig_sub2. [Graphical view] |
| Pfam | PF07679. I-set. 5 hits. [Graphical view] |
| SMART | SM00408. IGc2. 5 hits. [Graphical view] |
| PROSITE | PS50835. IG_LIKE. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 84665. |
| NextBio | 74653. |
| SOURCE | Search... |
Entry information
| Entry name | MYPN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q86TC9 Secondary accession number(s): Q5VV35 Q96KF5 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
