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UniProtKB - Q8N3K9 (CMYA5_HUMAN)

UniProt

Q8N3K9 - CMYA5_HUMAN

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Protein

Cardiomyopathy-associated protein 5

Gene

CMYA5

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

Functioni

May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity).By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
Cardiomyopathy-associated protein 5
Alternative name(s):
Dystrobrevin-binding protein 2
Genethonin-3
Myospryn
SPRY domain-containing protein 2
Tripartite motif-containing protein 76
Gene namesi
Name:CMYA5
Synonyms:C5orf10, DTNBP2, SPRYD2, TRIM76
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:14305. CMYA5.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37868.

Polymorphism and mutation databases

BioMutaiCMYA5.
DMDMi182627649.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 40694069Cardiomyopathy-associated protein 5PRO_0000328722Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei155 – 1551PhosphoserineBy similarity
Modified residuei631 – 6311PhosphoserineBy similarity
Modified residuei2404 – 24041PhosphoserineBy similarity
Modified residuei2813 – 28131PhosphoserineBy similarity
Modified residuei3228 – 32281PhosphoserineBy similarity

Post-translational modificationi

Phosphorylated by PKA.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N3K9.
MaxQBiQ8N3K9.
PaxDbiQ8N3K9.
PeptideAtlasiQ8N3K9.
PRIDEiQ8N3K9.

PTM databases

iPTMnetiQ8N3K9.
PhosphoSiteiQ8N3K9.

Expressioni

Tissue specificityi

Expressed in skeletal muscle; at a strong level and in heart.1 Publication

Inductioni

Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).2 Publications

Gene expression databases

BgeeiENSG00000164309.
CleanExiHS_CMYA5.
GenevisibleiQ8N3K9. HS.

Interactioni

Subunit structurei

Interacts with PRKAR2A (By similarity). Interacts with ACTN2 and DTNBP1/dysbindin (By similarity). Interacts with DES. Interacts with DMD/dystrophin (By similarity). Interacts with the calcineurin catalytic subunit PPP3CA (By similarity). Interacts with TTN. Interacts with CAPN3; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DYSFO759233EBI-2323272,EBI-2799016

Protein-protein interaction databases

BioGridi128427. 9 interactions.
IntActiQ8N3K9. 9 interactions.
STRINGi9606.ENSP00000394770.

Structurei

3D structure databases

ProteinModelPortaliQ8N3K9.
SMRiQ8N3K9. Positions 3717-3895, 3905-4063.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini3704 – 3805102Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini3806 – 389893Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini3880 – 4065186B30.2/SPRYPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni3517 – 354428Amphipathic helix H1Add
BLAST
Regioni3545 – 3672128B-box coiled-coil; BBCAdd
BLAST
Regioni3631 – 364818Amphipathic helix H2Add
BLAST
Regioni3751 – 376717Amphipathic helix H3Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili2964 – 298825Sequence analysisAdd
BLAST
Coiled coili3544 – 3653110Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi20 – 5738Glu-richAdd
BLAST
Compositional biasi483 – 639157Glu-richAdd
BLAST
Compositional biasi1584 – 15874Poly-Leu
Compositional biasi1918 – 19214Poly-Ser

Domaini

Amphipathic helix regions act as an anchoring domain for PKA, and appear to be responsible of the interaction between myospryn and PRKAR2A.

Sequence similaritiesi

Contains 1 B30.2/SPRY domain.PROSITE-ProRule annotation
Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410ITEV. Eukaryota.
ENOG410YB7U. LUCA.
GeneTreeiENSGT00840000129812.
InParanoidiQ8N3K9.
OMAiKGASSPM.
OrthoDBiEOG091G00D3.
PhylomeDBiQ8N3K9.
TreeFamiTF331281.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR001870. B30.2/SPRY.
IPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50188. B302_SPRY. 1 hit.
PS50853. FN3. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8N3K9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASRDSNHAG ESFLGSDGDE EATRELETEE ESEGEEDETA AESEEEPDSR 
        60         70         80         90        100
LSDQDEEGKI KQEYIISDPS FSMVTVQRED SGITWETNSS RSSTPWASEE 
       110        120        130        140        150
SQTSGVCSRE GSTVNSPPGN VSFIVDEVKK VRKRTHKSKH GSPSLRRKGN 
       160        170        180        190        200
RKRNSFESQD VPTNKKGSPL TSASQVLTTE KEKSYTGIYD KARKKKTTSN 
       210        220        230        240        250
TPPITGAIYK EHKPLVLRPV YIGTVQYKIK MFNSVKEELI PLQFYGTLPK 
       260        270        280        290        300
GYVIKEIHYR KGKDASISLE PDLDNSGSNT VSKTRKLVAQ SIEDKVKEVF 
       310        320        330        340        350
PPWRGALSKG SESLTLMFSH EDQKKIYADS PLNATSALEH TVPSYSSSGR 
       360        370        380        390        400
AEQGIQLRHS QSVPQQPEDE AKPHEVEPPS VTPDTPATMF LRTTKEECEL 
       410        420        430        440        450
ASPGTAASEN DSSVSPSFAN EVKKEDVYSA HHSISLEAAS PGLAASTQDG 
       460        470        480        490        500
LDPDQEQPDL TSIERAEPVS AKLTPTHPSV KGEKEENMLE PSISLSEPLM 
       510        520        530        540        550
LEEPEKEEIE TSLPIAITPE PEDSNLVEEE IVELDYPESP LVSEKPFPPH 
       560        570        580        590        600
MSPEVEHKEE ELILPLLAAS SPEHVALSEE EREEIASVST GSAFVSEYSV 
       610        620        630        640        650
PQDLNHELQE QEGEPVPPSN VEAIAEHAVL SEEENEEFEA YSPAAAPTSE 
       660        670        680        690        700
SSLSPSTTEK TSENQSPLFS TVTPEYMVLS GDEASESGCY TPDSTSASEY 
       710        720        730        740        750
SVPSLATKES LKKTIDRKSP LILKGVSEYM IPSEEKEDTG SFTPAVAPAS 
       760        770        780        790        800
EPSLSPSTTE KTSECQSPLP STATSEHVVP SEGEDLGSER FTPDSKLISK 
       810        820        830        840        850
YAAPLNATQE SQKKIINEAS QFKPKGISEH TVLSVDGKEV IGPSSPDLVV 
       860        870        880        890        900
ASEHSFPPHT TEMTSECQAP PLSATPSEYV VLSDEEAVEL ERYTPSSTSA 
       910        920        930        940        950
SEFSVPPYAT PEAQEEEIVH RSLNLKGASS PMNLSEEDQE DIGPFSPDSA 
       960        970        980        990       1000
FVSEFSFPPY ATQEAEKREF ECDSPICLTS PSEHTILSDE DTEEAELFSP 
      1010       1020       1030       1040       1050
DSASQVSIPP FRISETEKNE LEPDSLLTAV SASGYSCFSE ADEEDIGSTA 
      1060       1070       1080       1090       1100
ATPVSEQFSS SQKQKAETFP LMSPLEDLSL PPSTDKSEKA EIKPEIPTTS 
      1110       1120       1130       1140       1150
TSVSEYLILA QKQKTQAYLE PESEDLIPSH LTSEVEKGER EASSSVAAIP 
      1160       1170       1180       1190       1200
AALPAQSSIV KEETKPASPH SVLPDSVPAI KKEQEPTAAL TLKAADEQMA 
      1210       1220       1230       1240       1250
LSKVRKEEIV PDSQEATAHV SQDQKMEPQP PNVPESEMKY SVLPDMVDEP 
      1260       1270       1280       1290       1300
KKGVKPKLVL NVTSELEQRK LSKNEPEVIK PYSPLKETSL SGPEALSAVK 
      1310       1320       1330       1340       1350
MEMKHDSKIT TTPIVLHSAS SGVEKQVEHG PPALAFSALS EEIKKEIEPS 
      1360       1370       1380       1390       1400
SSTTTASVTK LDSNLTRAVK EEIPTDSSLI TPVDRPVLTK VGKGELGSGL 
      1410       1420       1430       1440       1450
PPLVTSADEH SVLAEEDKVA IKGASPIETS SKHLAWSEAE KEIKFDSLPS 
      1460       1470       1480       1490       1500
VSSIAEHSVL SEVEAKEVKA GLPVIKTSSS QHSDKSEEAR VEDKQDLLFS 
      1510       1520       1530       1540       1550
TVCDSERLVS SQKKSLMSTS EVLEPEHELP LSLWGEIKKK ETELPSSQNV 
      1560       1570       1580       1590       1600
SPASKHIIPK GKDEETASSS PELENLASGL APTLLLLSDD KNKPAVEVSS 
      1610       1620       1630       1640       1650
TAQGDFPSEK QDVALAELSL EPEKKDKPHQ PLELPNAGSE FSSDLGRQSG 
      1660       1670       1680       1690       1700
SIGTKQAKSP ITETEDSVLE KGPAELRSRE GKEENRELCA SSTMPAISEL 
      1710       1720       1730       1740       1750
SSLLREESQN EEIKPFSPKI ISLESKEPPA SVAEGGNPEE FQPFTFSLKG 
      1760       1770       1780       1790       1800
LSEEVSHPAD FKKGGNQEIG PLPPTGNLKA QVMGDILDKL SEETGHPNSS 
      1810       1820       1830       1840       1850
QVLQSITEPS KIAPSDLLVE QKKTEKALHS DQTVKLPDVS TSSEDKQDLG 
      1860       1870       1880       1890       1900
IKQFSLMREN LPLEQSKSFM TTKPADVKET KMEEFFISPK DENWMLGKPE 
      1910       1920       1930       1940       1950
NVASQHEQRI AGSVQLDSSS SNELRPGQLK AAVSSKDHTC EVRKQVLPHS 
      1960       1970       1980       1990       2000
AEESHLSSQE AVSALDTSSG NTETLSSKSY SSEEVKLAEE PKSLVLAGNV 
      2010       2020       2030       2040       2050
ERNIAEGKEI HSLMESESLL LEKANTELSW PSKEDSQEKI KLPPERFFQK 
      2060       2070       2080       2090       2100
PVSGLSVEQV KSETISSSVK TAHFPAEGVE PALGNEKEAH RSTPPFPEEK 
      2110       2120       2130       2140       2150
PLEESKMVQS KVIDDADEGK KPSPEVKIPT QRKPISSIHA REPQSPESPE 
      2160       2170       2180       2190       2200
VTQNPPTQPK VAKPDLPEEK GKKGISSFKS WMSSLFFGSS TPDNKVAEQE 
      2210       2220       2230       2240       2250
DLETQPSPSV EKAVTVIDPE GTIPTNFNVA EKPADHSLSE VKLKTADEPR 
      2260       2270       2280       2290       2300
GTLVKSGDGQ NVKEKSMILS NVEDLQQPKF ISEVSREDYG KKEISGDSEE 
      2310       2320       2330       2340       2350
MNINSVVTSA DGENLEIQSY SLIGEKLVME EAKTIVPPHV TDSKRVQKPA 
      2360       2370       2380       2390       2400
IAPPSKWNIS IFKEEPRSDQ KQKSLLSFDV VDKVPQQPKS ASSNFASKNI 
      2410       2420       2430       2440       2450
TKESEKPESI ILPVEESKGS LIDFSEDRLK KEMQNPTSLK ISEEETKLRS 
      2460       2470       2480       2490       2500
VSPTEKKDNL ENRSYTLAEK KVLAEKQNSV APLELRDSNE IGKTQITLGS 
      2510       2520       2530       2540       2550
RSTELKESKA DAMPQHFYQN EDYNERPKII VGSEKEKGEE KENQVYVLSE 
      2560       2570       2580       2590       2600
GKKQQEHQPY SVNVAESMSR ESDISLGHSL GETQSFSLVK ATSVTEKSEA 
      2610       2620       2630       2640       2650
MLAEAHPEIR EAKAVGTQPH PLEESKVLVE KTKTFLPVAL SCRDEIENHS 
      2660       2670       2680       2690       2700
LSQEGNLVLE KSSRDMPDHS EEKEQFRESE LSKGGSVDIT KETVKQGFQE 
      2710       2720       2730       2740       2750
KAVGTQPRPL EESKVLVEKT KTFLPVVLSC HDEIENHSLS QEGNLVLEKS 
      2760       2770       2780       2790       2800
SRDMPDHSEE KEQFKESELW KGGSVDITKE SMKEGFPSKE SERTLARPFD 
      2810       2820       2830       2840       2850
ETKSSETPPY LLSPVKPQTL ASGASPEINA VKKKEMPRSE LTPERHTVHT 
      2860       2870       2880       2890       2900
IQTSKDDTSD VPKQSVLVSK HHLEAAEDTR VKEPLSSAKS NYAQFISNTS 
      2910       2920       2930       2940       2950
ASNADKMVSN KEMPKEPEDT YAKGEDFTVT SKPAGLSEDQ KTAFSIISEG 
      2960       2970       2980       2990       3000
CEILNIHAPA FISSIDQEES EQMQDKLEYL EEKASFKTIP LPDDSETVAC 
      3010       3020       3030       3040       3050
HKTLKSRLED EKVTPLKENK QKETHKTKEE ISTDSETDLS FIQPTIPSEE 
      3060       3070       3080       3090       3100
DYFEKYTLID YNISPDPEKQ KAPQKLNVEE KLSKEVTEET ISFPVSSVES 
      3110       3120       3130       3140       3150
ALEHEYDLVK LDESFYGPEK GHNILSHPET QSQNSADRNV SKDTKRDVDS 
      3160       3170       3180       3190       3200
KSPGMPLFEA EEGVLSRTQI FPTTIKVIDP EFLEEPPALA FLYKDLYEEA 
      3210       3220       3230       3240       3250
VGEKKKEEET ASEGDSVNSE ASFPSRNSDT DDGTGIYFEK YILKDDILHD 
      3260       3270       3280       3290       3300
TSLTQKDQGQ GLEEKRVGKD DSYQPIAAEG EIWGKFGTIC REKSLEEQKG 
      3310       3320       3330       3340       3350
VYGEGESVDH VETVGNVAMQ KKAPITEDVR VATQKISYAV PFEDTHHVLE 
      3360       3370       3380       3390       3400
RADEAGSHGN EVGNASPEVN LNVPVQVSFP EEEFASGATH VQETSLEEPK 
      3410       3420       3430       3440       3450
ILVPPEPSEE RLRNSPVQDE YEFTESLHNE VVPQDILSEE LSSESTPEDV 
      3460       3470       3480       3490       3500
LSQGKESFEH ISENEFASEA EQSTPAEQKE LGSERKEEDQ LSSEVVTEKA 
      3510       3520       3530       3540       3550
QKELKKSQID TYCYTCKCPI SATDKVFGTH KDHEVSTLDT AISAVKVQLA 
      3560       3570       3580       3590       3600
EFLENLQEKS LRIEAFVSEI ESFFNTIEEN CSKNEKRLEE QNEEMMKKVL 
      3610       3620       3630       3640       3650
AQYDEKAQSF EEVKKKKMEF LHEQMVHFLQ SMDTAKDTLE TIVREAEELD 
      3660       3670       3680       3690       3700
EAVFLTSFEE INERLLSAME STASLEKMPA AFSLFEHYDD SSARSDQMLK 
      3710       3720       3730       3740       3750
QVAVPQPPRL EPQEPNSATS TTIAVYWSMN KEDVIDSFQV YCMEEPQDDQ 
      3760       3770       3780       3790       3800
EVNELVEEYR LTVKESYCIF EDLEPDRCYQ VWVMAVNFTG CSLPSERAIF 
      3810       3820       3830       3840       3850
RTAPSTPVIR AEDCTVCWNT ATIRWRPTTP EATETYTLEY CRQHSPEGEG 
      3860       3870       3880       3890       3900
LRSFSGIKGL QLKVNLQPND NYFFYVRAIN AFGTSEQSEA ALISTRGTRF 
      3910       3920       3930       3940       3950
LLLRETAHPA LHISSSGTVI SFGERRRLTE IPSVLGEELP SCGQHYWETT 
      3960       3970       3980       3990       4000
VTDCPAYRLG ICSSSAVQAG ALGQGETSWY MHCSEPQRYT FFYSGIVSDV 
      4010       4020       4030       4040       4050
HVTERPARVG ILLDYNNQRL IFINAESEQL LFIIRHRFNE GVHPAFALEK 
      4060 
PGKCTLHLGI EPPDSVRHK
Length:4,069
Mass (Da):449,211
Last modified:April 8, 2008 - v3
Checksum:iF5A25F1C53640EB8
GO

Sequence cautioni

The sequence AAD55265 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH20856 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH22422 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH62664 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH63134 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAI11530 differs from that shown. Reason: Erroneous termination at position 3283. Translated as Trp.Curated
The sequence AAQ09018 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH10406 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti79 – 791E → D in CAH10406 (PubMed:17974005).Curated
Sequence conflicti445 – 4451A → V in CAH10406 (PubMed:17974005).Curated
Sequence conflicti616 – 6161V → I in CAH10402 (PubMed:17974005).Curated
Sequence conflicti654 – 6541S → L in CAH10406 (PubMed:17974005).Curated
Sequence conflicti924 – 9241N → D in CAH10402 (PubMed:17974005).Curated
Sequence conflicti995 – 9951A → T in CAH10406 (PubMed:17974005).Curated
Sequence conflicti1283 – 12831S → P in CAH10406 (PubMed:17974005).Curated
Sequence conflicti1606 – 16061F → L in CAH10406 (PubMed:17974005).Curated
Sequence conflicti1681 – 16811G → E in CAH10406 (PubMed:17974005).Curated
Sequence conflicti1855 – 18551S → G in AAH63134 (PubMed:15489334).Curated
Sequence conflicti2038 – 20381E → K in AAH63134 (PubMed:15489334).Curated
Sequence conflicti2148 – 21481S → A in AAD55265 (PubMed:11297942).Curated
Sequence conflicti2538 – 25381G → D in AAD55265 (PubMed:11297942).Curated
Sequence conflicti2782 – 27843MKE → TKD in CAD38607 (PubMed:17974005).Curated
Sequence conflicti2788 – 27881S → P in CAD38928 (PubMed:17974005).Curated
Sequence conflicti2933 – 29331P → L in CAD38607 (PubMed:17974005).Curated
Sequence conflicti3073 – 311341PQKLN…VKLDE → SFKTIPLPDDSETVACHKTL KSRLEDEKVTPLKENKQKET Q in AAH62664 (PubMed:15489334).CuratedAdd
BLAST
Sequence conflicti3131 – 31311Q → L in AAQ09018 (Ref. 6) Curated
Sequence conflicti3291 – 32911R → W in CAD91143 (PubMed:17974005).Curated
Sequence conflicti3321 – 33211K → R in CAD91143 (PubMed:17974005).Curated
Sequence conflicti3331 – 33311V → A in CAD91158 (PubMed:17974005).Curated
Sequence conflicti3348 – 33481V → A in CAD91158 (PubMed:17974005).Curated
Sequence conflicti3361 – 33611E → G in CAD91158 (PubMed:17974005).Curated
Sequence conflicti3803 – 382220APSTP…WNTAT → GKEMDAKGALEDNAQFFTDS in CAD91143 (PubMed:17974005).CuratedAdd
BLAST
Sequence conflicti3852 – 38521R → S in CAD91158 (PubMed:17974005).Curated
Sequence conflicti3880 – 38801N → S in CAD91158 (PubMed:17974005).Curated
Sequence conflicti3929 – 39291T → A in CAD91158 (PubMed:17974005).Curated
Sequence conflicti3948 – 39481E → K in CAD91158 (PubMed:17974005).Curated
Sequence conflicti4050 – 40501K → E in CAD38607 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641Y → C.
Corresponds to variant rs16877109 [ dbSNP | Ensembl ].		VAR_042471
Natural varianti175 – 1751Q → H.
Corresponds to variant rs6895605 [ dbSNP | Ensembl ].		VAR_042472
Natural varianti190 – 1901D → G.1 Publication
Corresponds to variant rs10942901 [ dbSNP | Ensembl ].		VAR_042473
Natural varianti349 – 3491G → D.
Corresponds to variant rs1366271 [ dbSNP | Ensembl ].		VAR_042474
Natural varianti591 – 5911G → D.
Corresponds to variant rs16877124 [ dbSNP | Ensembl ].		VAR_042475
Natural varianti651 – 6511S → R.
Corresponds to variant rs57544556 [ dbSNP | Ensembl ].		VAR_061611
Natural varianti1006 – 10061V → A.
Corresponds to variant rs6893869 [ dbSNP | Ensembl ].		VAR_042476
Natural varianti1295 – 12951A → V.1 Publication
Corresponds to variant rs4704585 [ dbSNP | Ensembl ].		VAR_042477
Natural varianti1309 – 13091I → V.
Corresponds to variant rs16877133 [ dbSNP | Ensembl ].		VAR_042478
Natural varianti1333 – 13331A → V.
Corresponds to variant rs16877135 [ dbSNP | Ensembl ].		VAR_042479
Natural varianti1380 – 13801I → V.
Corresponds to variant rs13158477 [ dbSNP | Ensembl ].		VAR_042480
Natural varianti1567 – 15671A → E.
Corresponds to variant rs1428223 [ dbSNP | Ensembl ].		VAR_042481
Natural varianti1599 – 15991S → A.
Corresponds to variant rs1428224 [ dbSNP | Ensembl ].		VAR_042482
Natural varianti1669 – 16691L → S.
Corresponds to variant rs1019762 [ dbSNP | Ensembl ].		VAR_042483
Natural varianti1713 – 17131I → N.
Corresponds to variant rs16877141 [ dbSNP | Ensembl ].		VAR_042484
Natural varianti1721 – 17211I → V.
Corresponds to variant rs1428225 [ dbSNP | Ensembl ].		VAR_042485
Natural varianti1875 – 18751A → V.
Corresponds to variant rs16877147 [ dbSNP | Ensembl ].		VAR_042486
Natural varianti1917 – 19171D → G.
Corresponds to variant rs16877150 [ dbSNP | Ensembl ].		VAR_042487
Natural varianti1920 – 19201S → G.1 Publication
Corresponds to variant rs16877151 [ dbSNP | Ensembl ].		VAR_042488
Natural varianti2262 – 22621V → L.1 Publication
Corresponds to variant rs6859595 [ dbSNP | Ensembl ].		VAR_042489
Natural varianti2383 – 23831K → E.
Corresponds to variant rs7721884 [ dbSNP | Ensembl ].		VAR_042490
Natural varianti2693 – 26931T → I.
Corresponds to variant rs28362541 [ dbSNP | Ensembl ].		VAR_042491
Natural varianti2906 – 29061K → N.
Corresponds to variant rs2278239 [ dbSNP | Ensembl ].		VAR_042492
Natural varianti2935 – 29351G → R.
Corresponds to variant rs2278240 [ dbSNP | Ensembl ].		VAR_042493
Natural varianti3358 – 33581H → Q.1 Publication
Corresponds to variant rs3828611 [ dbSNP | Ensembl ].		VAR_042494
Natural varianti3583 – 35831K → E.2 Publications
Corresponds to variant rs12514461 [ dbSNP | Ensembl ].		VAR_042495
Natural varianti3927 – 39271R → Q.2 Publications
Corresponds to variant rs1129770 [ dbSNP | Ensembl ].		VAR_042496
Natural varianti4063 – 40631P → L.1 Publication
Corresponds to variant rs10043986 [ dbSNP | Ensembl ].		VAR_042497

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS47238.1.
RefSeqiNP_705838.3. NM_153610.4.
UniGeneiHs.482625.

Genome annotation databases

EnsembliENST00000446378; ENSP00000394770; ENSG00000164309.
GeneIDi202333.
KEGGihsa:202333.
UCSCiuc003kgc.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS47238.1.
RefSeqiNP_705838.3. NM_153610.4.
UniGeneiHs.482625.

3D structure databases

ProteinModelPortaliQ8N3K9.
SMRiQ8N3K9. Positions 3717-3895, 3905-4063.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128427. 9 interactions.
IntActiQ8N3K9. 9 interactions.
STRINGi9606.ENSP00000394770.

PTM databases

iPTMnetiQ8N3K9.
PhosphoSiteiQ8N3K9.

Polymorphism and mutation databases

BioMutaiCMYA5.
DMDMi182627649.

Proteomic databases

EPDiQ8N3K9.
MaxQBiQ8N3K9.
PaxDbiQ8N3K9.
PeptideAtlasiQ8N3K9.
PRIDEiQ8N3K9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000446378; ENSP00000394770; ENSG00000164309.
GeneIDi202333.
KEGGihsa:202333.
UCSCiuc003kgc.4. human.

Organism-specific databases

CTDi202333.
GeneCardsiCMYA5.
H-InvDBHIX0004988.
HIX0004989.
HGNCiHGNC:14305. CMYA5.
MIMi612193. gene.
neXtProtiNX_Q8N3K9.
PharmGKBiPA37868.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITEV. Eukaryota.
ENOG410YB7U. LUCA.
GeneTreeiENSGT00840000129812.
InParanoidiQ8N3K9.
OMAiKGASSPM.
OrthoDBiEOG091G00D3.
PhylomeDBiQ8N3K9.
TreeFamiTF331281.

Miscellaneous databases

ChiTaRSiCMYA5. human.
GenomeRNAii202333.
PROiQ8N3K9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164309.
CleanExiHS_CMYA5.
GenevisibleiQ8N3K9. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR001870. B30.2/SPRY.
IPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
[Graphical view]
PfamiPF00041. fn3. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 1 hit.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50188. B302_SPRY. 1 hit.
PS50853. FN3. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCMYA5_HUMAN
AccessioniPrimary (citable) accession number: Q8N3K9
Secondary accession number(s): A0PJB7
, Q05CT4, Q2NKX1, Q2T9G9, Q69YQ8, Q69YQ9, Q6P517, Q6P5U3, Q7Z4I1, Q86T34, Q86T49, Q8N3S4, Q8N3S7, Q8NAG8, Q9UK88
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: September 7, 2016
This is version 112 of the entry and version 3 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 5
    Human chromosome 5: 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.