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UniProtKB - 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

EuPathDBiHostDB:ENSG00000164309.14.
HGNCiHGNC:14305. CMYA5.

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi202333.
OpenTargetsiENSG00000164309.
PharmGKBiPA37868.

Polymorphism and mutation databases

BioMutaiCMYA5.
DMDMi182627649.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003287221 – 4069Cardiomyopathy-associated protein 5Add BLAST4069

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei155PhosphoserineBy similarity1
Modified residuei631PhosphoserineBy similarity1
Modified residuei2404PhosphoserineBy similarity1
Modified residuei2813PhosphoserineBy similarity1
Modified residuei3228PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated by PKA.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N3K9.
MaxQBiQ8N3K9.
PaxDbiQ8N3K9.
PeptideAtlasiQ8N3K9.
PRIDEiQ8N3K9.

PTM databases

iPTMnetiQ8N3K9.
PhosphoSitePlusiQ8N3K9.

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 interactors.
IntActiQ8N3K9. 11 interactors.
STRINGi9606.ENSP00000394770.

Structurei

3D structure databases

ProteinModelPortaliQ8N3K9.
SMRiQ8N3K9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini3704 – 3805Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST102
Domaini3806 – 3898Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST93
Domaini3880 – 4065B30.2/SPRYPROSITE-ProRule annotationAdd BLAST186

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni3517 – 3544Amphipathic helix H1Add BLAST28
Regioni3545 – 3672B-box coiled-coil; BBCAdd BLAST128
Regioni3631 – 3648Amphipathic helix H2Add BLAST18
Regioni3751 – 3767Amphipathic helix H3Add BLAST17

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili2964 – 2988Sequence analysisAdd BLAST25
Coiled coili3544 – 3653Sequence analysisAdd BLAST110

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi20 – 57Glu-richAdd BLAST38
Compositional biasi483 – 639Glu-richAdd BLAST157
Compositional biasi1584 – 1587Poly-Leu4
Compositional biasi1918 – 1921Poly-Ser4

Domaini

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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

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

Family and domain databases

CDDicd00063. FN3. 2 hits.
Gene3Di2.60.40.10. 2 hits.
InterProiView protein in InterPro
IPR001870. B30.2/SPRY.
IPR013320. ConA-like_dom.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
PfamiView protein in Pfam
PF00041. fn3. 1 hit.
SMARTiView protein in SMART
SM00060. FN3. 2 hits.
SUPFAMiSSF49265. SSF49265. 1 hit.
SSF49899. SSF49899. 1 hit.
PROSITEiView protein in PROSITE
PS50188. B302_SPRY. 1 hit.
PS50853. FN3. 2 hits.

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)DescriptionActionsGraphical viewLength
Sequence conflicti79E → D in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti445A → V in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti616V → I in CAH10402 (PubMed:17974005).Curated1
Sequence conflicti654S → L in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti924N → D in CAH10402 (PubMed:17974005).Curated1
Sequence conflicti995A → T in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti1283S → P in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti1606F → L in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti1681G → E in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti1855S → G in AAH63134 (PubMed:15489334).Curated1
Sequence conflicti2038E → K in AAH63134 (PubMed:15489334).Curated1
Sequence conflicti2148S → A in AAD55265 (PubMed:11297942).Curated1
Sequence conflicti2538G → D in AAD55265 (PubMed:11297942).Curated1
Sequence conflicti2782 – 2784MKE → TKD in CAD38607 (PubMed:17974005).Curated3
Sequence conflicti2788S → P in CAD38928 (PubMed:17974005).Curated1
Sequence conflicti2933P → L in CAD38607 (PubMed:17974005).Curated1
Sequence conflicti3073 – 3113PQKLN…VKLDE → SFKTIPLPDDSETVACHKTL KSRLEDEKVTPLKENKQKET Q in AAH62664 (PubMed:15489334).CuratedAdd BLAST41
Sequence conflicti3131Q → L in AAQ09018 (Ref. 6) Curated1
Sequence conflicti3291R → W in CAD91143 (PubMed:17974005).Curated1
Sequence conflicti3321K → R in CAD91143 (PubMed:17974005).Curated1
Sequence conflicti3331V → A in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3348V → A in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3361E → G in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3803 – 3822APSTP…WNTAT → GKEMDAKGALEDNAQFFTDS in CAD91143 (PubMed:17974005).CuratedAdd BLAST20
Sequence conflicti3852R → S in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3880N → S in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3929T → A in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3948E → K in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti4050K → E in CAD38607 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04247164Y → C. Corresponds to variant dbSNP:rs16877109Ensembl.1
Natural variantiVAR_042472175Q → H. Corresponds to variant dbSNP:rs6895605Ensembl.1
Natural variantiVAR_042473190D → G1 PublicationCorresponds to variant dbSNP:rs10942901Ensembl.1
Natural variantiVAR_042474349G → D. Corresponds to variant dbSNP:rs1366271Ensembl.1
Natural variantiVAR_042475591G → D. Corresponds to variant dbSNP:rs16877124Ensembl.1
Natural variantiVAR_061611651S → R. Corresponds to variant dbSNP:rs57544556Ensembl.1
Natural variantiVAR_0424761006V → A. Corresponds to variant dbSNP:rs6893869Ensembl.1
Natural variantiVAR_0424771295A → V1 PublicationCorresponds to variant dbSNP:rs4704585Ensembl.1
Natural variantiVAR_0424781309I → V. Corresponds to variant dbSNP:rs16877133Ensembl.1
Natural variantiVAR_0424791333A → V. Corresponds to variant dbSNP:rs16877135Ensembl.1
Natural variantiVAR_0424801380I → V. Corresponds to variant dbSNP:rs13158477Ensembl.1
Natural variantiVAR_0424811567A → E. Corresponds to variant dbSNP:rs1428223Ensembl.1
Natural variantiVAR_0424821599S → A. Corresponds to variant dbSNP:rs1428224Ensembl.1
Natural variantiVAR_0424831669L → S. Corresponds to variant dbSNP:rs1019762Ensembl.1
Natural variantiVAR_0424841713I → N. Corresponds to variant dbSNP:rs16877141Ensembl.1
Natural variantiVAR_0424851721I → V. Corresponds to variant dbSNP:rs1428225Ensembl.1
Natural variantiVAR_0424861875A → V. Corresponds to variant dbSNP:rs16877147Ensembl.1
Natural variantiVAR_0424871917D → G. Corresponds to variant dbSNP:rs16877150Ensembl.1
Natural variantiVAR_0424881920S → G1 PublicationCorresponds to variant dbSNP:rs16877151Ensembl.1
Natural variantiVAR_0424892262V → L1 PublicationCorresponds to variant dbSNP:rs6859595Ensembl.1
Natural variantiVAR_0424902383K → E. Corresponds to variant dbSNP:rs7721884Ensembl.1
Natural variantiVAR_0424912693T → I. Corresponds to variant dbSNP:rs28362541Ensembl.1
Natural variantiVAR_0424922906K → N. Corresponds to variant dbSNP:rs2278239Ensembl.1
Natural variantiVAR_0424932935G → R. Corresponds to variant dbSNP:rs2278240Ensembl.1
Natural variantiVAR_0424943358H → Q1 PublicationCorresponds to variant dbSNP:rs3828611Ensembl.1
Natural variantiVAR_0424953583K → E2 PublicationsCorresponds to variant dbSNP:rs12514461Ensembl.1
Natural variantiVAR_0424963927R → Q2 PublicationsCorresponds to variant dbSNP:rs1129770Ensembl.1
Natural variantiVAR_0424974063P → L1 PublicationCorresponds to variant dbSNP:rs10043986Ensembl.1

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

Similar proteinsi

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 historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: September 27, 2017
This is version 120 of the entry and version 3 of the sequence. See 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