Reviewed,
UniProtKB/Swiss-Prot Q8N3K9 (CMYA5_HUMAN)
Last modified
November 4, 2008.
Version 39.
History...
Clusters with 100%,
90%,
50% identity |
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents
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) | ||||
| 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 | CytoplasmBy similarity. Cytoplasm › perinuclear regionBy 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. |
| Induction | Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD). |
| 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 |
Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
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 | ||||||
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. | 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. | 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. | VAR_042488 | |||||
| Natural variant | 2262 | 1 | V → L: dbSNP rs6859595. | 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. | VAR_042494 | |||||
| Natural variant | 3583 | 1 | K → E: dbSNP rs12514461. | VAR_042495 | |||||
| Natural variant | 3927 | 1 | R → Q: dbSNP rs1129770. | VAR_042496 | |||||
| Natural variant | 4063 | 1 | P → L: dbSNP rs10043986. | 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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