Reviewed,
UniProtKB/Swiss-Prot Q8N3K9 (CMYA5_HUMAN)
Last modified
July 7, 2009.
Version 47.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Cardiomyopathy-associated protein 5 Alternative name(s): Myospryn Dystrobrevin-binding protein 2 SPRY domain-containing protein 2 Tripartite motif-containing protein 76 Genethonin-3 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 4069 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subunit structure | Interacts with ACTN2, DTNBP1/dysbindin and PRKAR2A By similarity. Interacts with DES. |
| Subcellular location | Cytoplasm By similarity. Cytoplasm › perinuclear region By similarity. Note: Found predominantly at the periphery of the nucleus but also throughout the cell. Localized at the Z-line costamere connection level of the sarcolemma and in lysosomes By similarity. |
| Tissue specificity | Expressed in skeletal muscle; at a strong level and in heart. Ref.5 |
| Induction | Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD). Ref.5 Ref.8 |
| Domain | Amphipathic helix regions act as an anchoring domain for PKA, and appear to be responsible of the interaction between myospryn and PRKAR2A. |
| Sequence similarities | Contains 1 B30.2/SPRY domain. Contains 2 fibronectin type-III domains. |
| Sequence caution | The sequence AAD55265.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. The sequence AAH20856.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. The sequence AAH22422.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. The sequence AAH62664.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. The sequence AAH63134.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. The sequence AAI11530.1 differs from that shown. Reason: Erroneous termination at position 3283. Translated as Trp. The sequence CAH10406.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Potential poly-A sequence. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Polymorphism |
| Domain | Coiled coil Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| BZW1 | Q9BUY0 | 1 | EBI-2323272,EBI-1046727 | |
| PSMC4 | P43686 | 1 | EBI-2323272,EBI-743997 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 4069 | 4069 | Cardiomyopathy-associated protein 5 | PRO_0000328722 | |||||
Regions | |||||||||
| Domain | 3705 – 3801 | 97 | Fibronectin type-III 1 | ||||||
| Domain | 3802 – 3894 | 93 | Fibronectin type-III 2 | ||||||
| Domain | 3880 – 4065 | 186 | B30.2/SPRY | ||||||
| Region | 3517 – 3544 | 28 | Amphipathic helix H1 | ||||||
| Region | 3545 – 3672 | 128 | B-box coiled-coil; BBC | ||||||
| Region | 3631 – 3648 | 18 | Amphipathic helix H2 | ||||||
| Region | 3751 – 3767 | 17 | Amphipathic helix H3 | ||||||
| Coiled coil | 2964 – 2988 | 25 | Potential | ||||||
| Coiled coil | 3544 – 3653 | 110 | Potential | ||||||
| Compositional bias | 20 – 57 | 38 | Glu-rich | ||||||
| Compositional bias | 483 – 639 | 157 | Glu-rich | ||||||
| Compositional bias | 1584 – 1587 | 4 | Poly-Leu | ||||||
| Compositional bias | 1918 – 1921 | 4 | Poly-Ser | ||||||
Amino acid modifications | |||||||||
| Modified residue | 209 | 1 | Phosphotyrosine Ref.7 | ||||||
Natural variations | |||||||||
| Natural variant | 64 | 1 | Y → C: dbSNP rs16877109. | VAR_042471 | |||||
| Natural variant | 175 | 1 | Q → H: dbSNP rs6895605. | VAR_042472 | |||||
| Natural variant | 190 | 1 | D → G: dbSNP rs10942901. Ref.2 | VAR_042473 | |||||
| Natural variant | 349 | 1 | G → D: dbSNP rs1366271. | VAR_042474 | |||||
| Natural variant | 591 | 1 | G → D: dbSNP rs16877124. | VAR_042475 | |||||
| Natural variant | 1006 | 1 | V → A: dbSNP rs6893869. | VAR_042476 | |||||
| Natural variant | 1295 | 1 | A → V: dbSNP rs4704585. Ref.2 | VAR_042477 | |||||
| Natural variant | 1309 | 1 | I → V: dbSNP rs16877133. | VAR_042478 | |||||
| Natural variant | 1333 | 1 | A → V: dbSNP rs16877135. | VAR_042479 | |||||
| Natural variant | 1380 | 1 | I → V: dbSNP rs13158477. | VAR_042480 | |||||
| Natural variant | 1567 | 1 | A → E: dbSNP rs1428223. | VAR_042481 | |||||
| Natural variant | 1599 | 1 | S → A: dbSNP rs1428224. | VAR_042482 | |||||
| Natural variant | 1669 | 1 | L → S: dbSNP rs1019762. | VAR_042483 | |||||
| Natural variant | 1713 | 1 | I → N: dbSNP rs16877141. | VAR_042484 | |||||
| Natural variant | 1721 | 1 | I → V: dbSNP rs1428225. | VAR_042485 | |||||
| Natural variant | 1875 | 1 | A → V: dbSNP rs16877147. | VAR_042486 | |||||
| Natural variant | 1917 | 1 | D → G: dbSNP rs16877150. | VAR_042487 | |||||
| Natural variant | 1920 | 1 | S → G: dbSNP rs16877151. Ref.3 | VAR_042488 | |||||
| Natural variant | 2262 | 1 | V → L: dbSNP rs6859595. Ref.3 | VAR_042489 | |||||
| Natural variant | 2383 | 1 | K → E: dbSNP rs7721884. | VAR_042490 | |||||
| Natural variant | 2693 | 1 | T → I: dbSNP rs28362541. | VAR_042491 | |||||
| Natural variant | 2906 | 1 | K → N: dbSNP rs2278239. | VAR_042492 | |||||
| Natural variant | 2935 | 1 | G → R: dbSNP rs2278240. | VAR_042493 | |||||
| Natural variant | 3358 | 1 | H → Q: dbSNP rs3828611. Ref.3 | VAR_042494 | |||||
| Natural variant | 3583 | 1 | K → E: dbSNP rs12514461. Ref.2 Ref.3 | VAR_042495 | |||||
| Natural variant | 3927 | 1 | R → Q: dbSNP rs1129770. Ref.3 Ref.6 | VAR_042496 | |||||
| Natural variant | 4063 | 1 | P → L: dbSNP rs10043986. Ref.2 | VAR_042497 | |||||
Experimental info | |||||||||
| Sequence conflict | 79 | 1 | E → D in CAH10406. Ref.2 | ||||||
| Sequence conflict | 445 | 1 | A → V in CAH10406. Ref.2 | ||||||
| Sequence conflict | 616 | 1 | V → I in CAH10402. Ref.2 | ||||||
| Sequence conflict | 654 | 1 | S → L in CAH10406. Ref.2 | ||||||
| Sequence conflict | 924 | 1 | N → D in CAH10402. Ref.2 | ||||||
| Sequence conflict | 995 | 1 | A → T in CAH10406. Ref.2 | ||||||
| Sequence conflict | 1283 | 1 | S → P in CAH10406. Ref.2 | ||||||
| Sequence conflict | 1606 | 1 | F → L in CAH10406. Ref.2 | ||||||
| Sequence conflict | 1681 | 1 | G → E in CAH10406. Ref.2 | ||||||
| Sequence conflict | 1855 | 1 | S → G in AAH63134. Ref.3 | ||||||
| Sequence conflict | 2038 | 1 | E → K in AAH63134. Ref.3 | ||||||
| Sequence conflict | 2148 | 1 | S → A in AAD55265. Ref.5 | ||||||
| Sequence conflict | 2538 | 1 | G → D in AAD55265. Ref.5 | ||||||
| Sequence conflict | 2782 – 2784 | 3 | MKE → TKD in CAD38607. Ref.2 | ||||||
| Sequence conflict | 2788 | 1 | S → P in CAD38928. Ref.2 | ||||||
| Sequence conflict | 2933 | 1 | P → L in CAD38607. Ref.2 | ||||||
| Sequence conflict | 3073 – 3113 | 41 | PQKLN…VKLDE → SFKTIPLPDDSETVACHKTL KSRLEDEKVTPLKENKQKET Q in AAH62664. Ref.3 | ||||||
| Sequence conflict | 3291 | 1 | R → W in CAD91143. Ref.2 | ||||||
| Sequence conflict | 3321 | 1 | K → R in CAD91143. Ref.2 | ||||||
| Sequence conflict | 3331 | 1 | V → A in CAD91158. Ref.2 | ||||||
| Sequence conflict | 3348 | 1 | V → A in CAD91158. Ref.2 | ||||||
| Sequence conflict | 3361 | 1 | E → G in CAD91158. Ref.2 | ||||||
| Sequence conflict | 3803 – 3822 | 20 | APSTP…WNTAT → GKEMDAKGALEDNAQFFTDS in CAD91143. Ref.2 | ||||||
| Sequence conflict | 3852 | 1 | R → S in CAD91158. Ref.2 | ||||||
| Sequence conflict | 3880 | 1 | N → S in CAD91158. Ref.2 | ||||||
| Sequence conflict | 3929 | 1 | T → A in CAD91158. Ref.2 | ||||||
| Sequence conflict | 3948 | 1 | E → K in CAD91158. Ref.2 | ||||||
| Sequence conflict | 4050 | 1 | K → E in CAD38607. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. Rubin E.M.Nature 431:268-274(2004) [PubMed: 15372022] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "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., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1682 AND 2600-4069, VARIANTS GLY-190; VAL-1295; GLU-3583 AND LEU-4063. Tissue: Skeletal muscle. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-283; 1067-1340; 1604-2691 AND 2754-4069, VARIANTS GLY-1920; LEU-2262; GLN-3358; GLU-3583 AND GLN-3927. Tissue: Liver and Skeletal muscle. |
| [4] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1067-1340. Tissue: Skeletal muscle. |
| [5] | "Identification of altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients." Tkatchenko A.V., Pietu G., Cros N., Gannoun-Zaki L., Auffray C., Leger J.J., Dechesne C.A. Neuromuscul. Disord. 11:269-277(2001) [PubMed: 11297942] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1736-2539, INDUCTION, TISSUE SPECIFICITY. |
| [6] | Ding P., Han W., Wang L., Wang Y., Qiu X., Xu M., Ma D. Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3155-4069, VARIANT GLN-3927. Tissue: Mammary gland. |
| [7] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-209, MASS SPECTROMETRY. Tissue: Epithelium. |
| [8] | "Myospryn is a novel binding partner for dysbindin in muscle." Benson M.A., Tinsley C.L., Blake D.J. J. Biol. Chem. 279:10450-10458(2004) [PubMed: 14688250] [Abstract] Cited for: INDUCTION. |
| [9] | "Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin." Kouloumenta A., Mavroidis M., Capetanaki Y. J. Biol. Chem. 282:35211-35221(2007) [PubMed: 17872945] [Abstract] Cited for: INTERACTION WITH DES. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AC008482 Genomic DNA. No translation available. AC109488 Genomic DNA. No translation available. AC008496 Genomic DNA. No translation available. AL831966 mRNA. Translation: CAD38607.1. AL831968 mRNA. Translation: CAD38609.2. AL831986 mRNA. Translation: CAD91143.1. AL832347 mRNA. Translation: CAH10406.1. Sequence problems. AL832368 mRNA. Translation: CAD91158.1. AL832376 mRNA. Translation: CAH10402.1. AL834252 mRNA. Translation: CAD38928.2. BC020856 mRNA. Translation: AAH20856.1. Sequence problems. BC022422 mRNA. Translation: AAH22422.1. Sequence problems. BC062664 mRNA. Translation: AAH62664.1. Sequence problems. BC063134 mRNA. Translation: AAH63134.1. Sequence problems. BC111529 mRNA. Translation: AAI11530.1. Sequence problems. BC111530 mRNA. Translation: AAI11531.1. AK092699 mRNA. No translation available. AF177292 mRNA. Translation: AAD55265.1. Sequence problems. AF533705 mRNA. Translation: AAQ09018.1. Different initiation. | |
| IPI | IPI00166612. |
| RefSeq | NP_705838.3. |
| UniGene | Hs.482625 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8N3K9. |
Proteomic databases | |
| PRIDE | Q8N3K9. |
Genome annotation databases | |
| Ensembl | ENSG00000164309. Homo sapiens. [Contig view] |
| GeneID | 202333. |
| KEGG | hsa:202333. |
| UCSC | uc003kgc.1. human. |
Organism-specific databases | |
| GeneCards | GC05P079067. |
| HGNC | HGNC:14305. CMYA5. |
| PharmGKB | PA37868. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8N3K9. |
Gene expression databases | |
| Bgee | Q8N3K9. |
| CleanEx | HS_CMYA5. |
Family and domain databases | |
| InterPro | IPR001870. B302. IPR008957. Fibronectin_typ-III-like_fold. IPR003961. FN_III. IPR003877. SPRY_rcpt. [Graphical view] |
| Gene3D | G3DSA:2.60.40.30. FN_III-like. 2 hits. |
| Pfam | PF00041. fn3. 2 hits. PF00622. SPRY. 1 hit. [Graphical view] |
| SMART | SM00060. FN3. 2 hits. [Graphical view] |
| PROSITE | PS50188. B302_SPRY. 1 hit. PS50853. FN3. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 90280. |
Entry information
| Entry name | CMYA5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N3K9 Secondary accession number(s): A0PJB7 Q9UK88 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with


