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Q8NEV4

- MYO3A_HUMAN

UniProt

Q8NEV4 - MYO3A_HUMAN

Protein

Myosin-IIIa

Gene

MYO3A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (13 Nov 2007)
      Previous versions | rss
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    Functioni

    Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing.1 Publication

    Catalytic activityi

    ATP + a protein = ADP + a phosphoprotein.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei50 – 501ATPPROSITE-ProRule annotation
    Active sitei150 – 1501Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi27 – 359ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. actin-dependent ATPase activity Source: UniProtKB
    2. ADP binding Source: UniProtKB
    3. ATP binding Source: UniProtKB-KW
    4. calmodulin binding Source: UniProtKB
    5. microfilament motor activity Source: UniProtKB
    6. plus-end directed microfilament motor activity Source: UniProtKB
    7. protein kinase activity Source: UniProtKB
    8. protein serine/threonine kinase activity Source: UniProtKB-KW

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. inner ear development Source: Ensembl
    3. peptidyl-serine phosphorylation Source: Ensembl
    4. peptidyl-threonine phosphorylation Source: Ensembl
    5. positive regulation of filopodium assembly Source: Ensembl
    6. protein autophosphorylation Source: UniProtKB
    7. response to stimulus Source: UniProtKB-KW
    8. sensory perception of sound Source: UniProtKB
    9. visual perception Source: UniProtKB-KW

    Keywords - Molecular functioni

    Kinase, Motor protein, Myosin, Serine/threonine-protein kinase, Transferase

    Keywords - Biological processi

    Hearing, Sensory transduction, Vision

    Keywords - Ligandi

    Actin-binding, ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    SignaLinkiQ8NEV4.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myosin-IIIa (EC:2.7.11.1)
    Gene namesi
    Name:MYO3A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:7601. MYO3A.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. filamentous actin Source: UniProtKB
    3. filopodium Source: UniProtKB
    4. filopodium tip Source: Ensembl
    5. myosin complex Source: UniProtKB-KW
    6. photoreceptor inner segment Source: Ensembl
    7. stereocilium bundle tip Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal recessive, 30 (DFNB30) [MIM:607101]: A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Non-syndromic deafness

    Organism-specific databases

    MIMi607101. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBiPA31405.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 16161616Myosin-IIIaPRO_0000086413Add
    BLAST

    Proteomic databases

    PaxDbiQ8NEV4.
    PRIDEiQ8NEV4.

    PTM databases

    PhosphoSiteiQ8NEV4.

    Expressioni

    Tissue specificityi

    Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.

    Gene expression databases

    ArrayExpressiQ8NEV4.
    BgeeiQ8NEV4.
    CleanExiHS_MYO3A.
    GenevestigatoriQ8NEV4.

    Organism-specific databases

    HPAiHPA048951.

    Interactioni

    Protein-protein interaction databases

    BioGridi119814. 1 interaction.
    IntActiQ8NEV4. 1 interaction.
    STRINGi9606.ENSP00000265944.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NEV4.
    SMRiQ8NEV4. Positions 14-1142.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini21 – 287267Protein kinasePROSITE-ProRule annotationAdd
    BLAST
    Domaini338 – 1053716Myosin motorAdd
    BLAST
    Domaini1055 – 108430IQ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1082 – 111130IQ 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1346 – 137530IQ 3PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.Curated
    In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.Curated
    Contains 3 IQ domains.PROSITE-ProRule annotation
    Contains 1 myosin motor domain.Curated
    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG0515.
    HOGENOMiHOG000007169.
    HOVERGENiHBG052555.
    InParanoidiQ8NEV4.
    KOiK08834.
    OMAiRQARKYD.
    OrthoDBiEOG7SJD3P.
    PhylomeDBiQ8NEV4.
    TreeFamiTF326512.

    Family and domain databases

    InterProiIPR000048. IQ_motif_EF-hand-BS.
    IPR011009. Kinase-like_dom.
    IPR001609. Myosin_head_motor_dom.
    IPR027417. P-loop_NTPase.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    [Graphical view]
    PfamiPF00612. IQ. 2 hits.
    PF00063. Myosin_head. 1 hit.
    PF00069. Pkinase. 1 hit.
    [Graphical view]
    PRINTSiPR00193. MYOSINHEAVY.
    SMARTiSM00015. IQ. 3 hits.
    SM00242. MYSc. 1 hit.
    SM00220. S_TKc. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF56112. SSF56112. 1 hit.
    PROSITEiPS50096. IQ. 3 hits.
    PS51456. MYOSIN_MOTOR. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NEV4-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK     50
    ILDPIHDIDE EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL 100
    ELCSGGSVTD LVKGFLKRGE RMSEPLIAYI LHEALMGLQH LHNNKTIHRD 150
    VKGNNILLTT EGGVKLVDFG VSAQLTSTRH RRNTSVGTPF WMAPEVIACE 200
    QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF KIPRNPPPKL 250
    RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ 300
    LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEILD 350
    ENTVSEQLEK CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR 400
    TASPPHIFAM ADLGYQSMIT YNSDQCIVIS GESGAGKTEN AHLLVQQLTV 450
    LGKANNRTLQ EKILQVNNLV EAFGNACTII NDNSSRFGKY LEMKFTSSGA 500
    VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK KLAHYKLPEN 550
    KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEQLGSIYSI 600
    LAAILNVGNI EFSSVATEHQ IDKSHISNHT ALENCASLLC IRADELQEAL 650
    TSHCVVTRGE TIIRPNTVEK ATDVRDAMAK TLYGRLFSWI VNCINSLLKH 700
    DSSPSGNGDE LSIGILDIFG FENFKKNSFE QLCINIANEQ IQYYYNQHVF 750
    AWEQNEYLNE DVDARVIEYE DNWPLLDMFL QKPMGLLSLL DEESRFPKAT 800
    DQTLVEKFEG NLKSQYFWRP KRMELSFGIH HYAGKVLYNA SGFLAKNRDT 850
    LPTDIVLLLR SSDNSVIRQL VNHPLTKTGN LPHSKTKNVI NYQMRTSEKL 900
    INLAKGDTGE ATRHARETTN MKTQTVASYF RYSLMDLLSK MVVGQPHFVR 950
    CIKPNSERQA RKYDKEKVLL QLRYTGILET ARIRRLGFSH RILFANFIKR 1000
    YYLLCYKSSE EPRMSPDTCA TILEKAGLDN WALGKTKVFL KYYHVEQLNL 1050
    MRKEAIDKLI LIQACVRAFL CSRRYQKIQE KRKESAIIIQ SAARGHLVRK 1100
    QRKEIVDMKN TAVTTIQTSD QEFDYKKNFE NTRESFVKKQ AENAISANER 1150
    FISAPNNKGS VSVVKTSTFK PEEETTNAVE SNNRVYQTPK KMNNVYEEEV 1200
    KQEFYLVGPE VSPKQKSVKD LEENSNLRKV EKEEAMIQSY YQRYTEERNC 1250
    EESKAAYLER KAISERPSYP VPWLAENETS FKKTLEPTLS QRSIYQNANS 1300
    MEKEKKTSVV TQRAPICSQE EGRGRLRHET VKERQVEPVT QAQEEEDKAA 1350
    VFIQSKYRGY KRRQQLRKDK MSSFKHQRIV TTPTEVARNT HNLYSYPTKH 1400
    EEINNIKKKD NKDSKATSER EACGLAIFSK QISKLSEEYF ILQKKLNEMI 1450
    LSQQLKSLYL GVSHHKPINR RVSSQQCLSG VCKGEEPKIL RPPRRPRKPK 1500
    TLNNPEDSTY YYLLHKSIQE EKRRPRKDSQ GKLLDLEDFY YKEFLPSRSG 1550
    PKEHSPSLRE RRPQQELQNQ CIKANERCWA AESPEKEEER EPAANPYDFR 1600
    RLLRKTSQRR RLVQQS 1616
    Length:1,616
    Mass (Da):186,208
    Last modified:November 13, 2007 - v2
    Checksum:i7D126A7E22520574
    GO
    Isoform 2 (identifier: Q8NEV4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         245-247: NPP → SDD
         248-1616: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:247
    Mass (Da):27,678
    Checksum:iBAB051B0CFF58532
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti418 – 4181M → I(PubMed:10936054)Curated
    Sequence conflicti418 – 4181M → I(PubMed:12032315)Curated
    Sequence conflicti636 – 6361A → V(PubMed:10936054)Curated
    Sequence conflicti636 – 6361A → V(PubMed:12032315)Curated
    Sequence conflicti848 – 8514RDTL → KTLV in AAF70861. (PubMed:12032315)Curated
    Sequence conflicti886 – 8905TKNVI → LKML in AAF70861. (PubMed:12032315)Curated
    Sequence conflicti1099 – 10991R → G(PubMed:10936054)Curated
    Sequence conflicti1099 – 10991R → G(PubMed:12032315)Curated
    Sequence conflicti1217 – 12171S → F(PubMed:10936054)Curated
    Sequence conflicti1217 – 12171S → F(PubMed:12032315)Curated
    Sequence conflicti1378 – 13781R → K(PubMed:10936054)Curated
    Sequence conflicti1378 – 13781R → K(PubMed:12032315)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti178 – 1781T → I.1 Publication
    Corresponds to variant rs33968748 [ dbSNP | Ensembl ].
    VAR_040871
    Natural varianti204 – 2041D → N.
    Corresponds to variant rs3737274 [ dbSNP | Ensembl ].
    VAR_021866
    Natural varianti319 – 3191R → H.1 Publication
    Corresponds to variant rs3824700 [ dbSNP | Ensembl ].
    VAR_040872
    Natural varianti348 – 3481I → V.1 Publication
    Corresponds to variant rs3824699 [ dbSNP | Ensembl ].
    VAR_040873
    Natural varianti369 – 3691V → I.1 Publication
    Corresponds to variant rs3817420 [ dbSNP | Ensembl ].
    VAR_040874
    Natural varianti525 – 5251N → K in an ovarian mucinous carcinoma sample; somatic mutation. 1 Publication
    VAR_040875
    Natural varianti833 – 8331A → S.1 Publication
    Corresponds to variant rs33947968 [ dbSNP | Ensembl ].
    VAR_040876
    Natural varianti956 – 9561S → N.1 Publication
    Corresponds to variant rs3758449 [ dbSNP | Ensembl ].
    VAR_021867
    Natural varianti956 – 9561S → R in an ovarian serous carcinoma sample; somatic mutation. 1 Publication
    VAR_040877
    Natural varianti1032 – 10321A → T.1 Publication
    Corresponds to variant rs34918608 [ dbSNP | Ensembl ].
    VAR_040878
    Natural varianti1045 – 10451V → M.1 Publication
    Corresponds to variant rs35447806 [ dbSNP | Ensembl ].
    VAR_040879
    Natural varianti1137 – 11371V → M.1 Publication
    Corresponds to variant rs35449183 [ dbSNP | Ensembl ].
    VAR_040880
    Natural varianti1195 – 11951V → A.1 Publication
    Corresponds to variant rs35675577 [ dbSNP | Ensembl ].
    VAR_040881
    Natural varianti1284 – 12841T → S.1 Publication
    Corresponds to variant rs3740231 [ dbSNP | Ensembl ].
    VAR_033905
    Natural varianti1287 – 12871P → T.1 Publication
    Corresponds to variant rs35575696 [ dbSNP | Ensembl ].
    VAR_040882
    Natural varianti1313 – 13131R → S.3 Publications
    Corresponds to variant rs1999240 [ dbSNP | Ensembl ].
    VAR_022779
    Natural varianti1347 – 13471D → H in a renal clear cell carcinoma sample; somatic mutation. 1 Publication
    VAR_040883
    Natural varianti1417 – 14171T → I.1 Publication
    Corresponds to variant rs34151474 [ dbSNP | Ensembl ].
    VAR_040884
    Natural varianti1488 – 14881K → E.1 Publication
    Corresponds to variant rs34204285 [ dbSNP | Ensembl ].
    VAR_040885

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei245 – 2473NPP → SDD in isoform 2. 1 PublicationVSP_056231
    Alternative sequencei248 – 16161369Missing in isoform 2. 1 PublicationVSP_056232Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF229172 mRNA. Translation: AAF70861.1.
    AY101367 mRNA. Translation: AAM34500.1.
    AL162503
    , AL358612, AL360217, AL391812 Genomic DNA. Translation: CAH73661.1.
    AL358612
    , AL162503, AL360217, AL391812 Genomic DNA. Translation: CAH73814.1.
    AL360217 Genomic DNA. Translation: CAD13206.2.
    AL391812
    , AL162503, AL358612, AL360217 Genomic DNA. Translation: CAI17380.1.
    BC036079 mRNA. Translation: AAH36079.1.
    CCDSiCCDS7148.1.
    RefSeqiNP_059129.3. NM_017433.4.
    UniGeneiHs.662630.

    Genome annotation databases

    EnsembliENST00000265944; ENSP00000265944; ENSG00000095777.
    ENST00000376302; ENSP00000365479; ENSG00000095777.
    GeneIDi53904.
    KEGGihsa:53904.
    UCSCiuc001isn.2. human.

    Polymorphism databases

    DMDMi160112826.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF229172 mRNA. Translation: AAF70861.1 .
    AY101367 mRNA. Translation: AAM34500.1 .
    AL162503
    , AL358612 , AL360217 , AL391812 Genomic DNA. Translation: CAH73661.1 .
    AL358612
    , AL162503 , AL360217 , AL391812 Genomic DNA. Translation: CAH73814.1 .
    AL360217 Genomic DNA. Translation: CAD13206.2 .
    AL391812
    , AL162503 , AL358612 , AL360217 Genomic DNA. Translation: CAI17380.1 .
    BC036079 mRNA. Translation: AAH36079.1 .
    CCDSi CCDS7148.1.
    RefSeqi NP_059129.3. NM_017433.4.
    UniGenei Hs.662630.

    3D structure databases

    ProteinModelPortali Q8NEV4.
    SMRi Q8NEV4. Positions 14-1142.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119814. 1 interaction.
    IntActi Q8NEV4. 1 interaction.
    STRINGi 9606.ENSP00000265944.

    Chemistry

    BindingDBi Q8NEV4.
    ChEMBLi CHEMBL5546.
    GuidetoPHARMACOLOGYi 2112.

    PTM databases

    PhosphoSitei Q8NEV4.

    Polymorphism databases

    DMDMi 160112826.

    Proteomic databases

    PaxDbi Q8NEV4.
    PRIDEi Q8NEV4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265944 ; ENSP00000265944 ; ENSG00000095777 .
    ENST00000376302 ; ENSP00000365479 ; ENSG00000095777 .
    GeneIDi 53904.
    KEGGi hsa:53904.
    UCSCi uc001isn.2. human.

    Organism-specific databases

    CTDi 53904.
    GeneCardsi GC10P026263.
    GeneReviewsi MYO3A.
    H-InvDB HIX0201520.
    HGNCi HGNC:7601. MYO3A.
    HPAi HPA048951.
    MIMi 606808. gene.
    607101. phenotype.
    neXtProti NX_Q8NEV4.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA31405.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000007169.
    HOVERGENi HBG052555.
    InParanoidi Q8NEV4.
    KOi K08834.
    OMAi RQARKYD.
    OrthoDBi EOG7SJD3P.
    PhylomeDBi Q8NEV4.
    TreeFami TF326512.

    Enzyme and pathway databases

    SignaLinki Q8NEV4.

    Miscellaneous databases

    GeneWikii MYO3A.
    GenomeRNAii 53904.
    NextBioi 56212.
    PROi Q8NEV4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NEV4.
    Bgeei Q8NEV4.
    CleanExi HS_MYO3A.
    Genevestigatori Q8NEV4.

    Family and domain databases

    InterProi IPR000048. IQ_motif_EF-hand-BS.
    IPR011009. Kinase-like_dom.
    IPR001609. Myosin_head_motor_dom.
    IPR027417. P-loop_NTPase.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    [Graphical view ]
    Pfami PF00612. IQ. 2 hits.
    PF00063. Myosin_head. 1 hit.
    PF00069. Pkinase. 1 hit.
    [Graphical view ]
    PRINTSi PR00193. MYOSINHEAVY.
    SMARTi SM00015. IQ. 3 hits.
    SM00242. MYSc. 1 hit.
    SM00220. S_TKc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    SSF56112. SSF56112. 1 hit.
    PROSITEi PS50096. IQ. 3 hits.
    PS51456. MYOSIN_MOTOR. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and chromosomal localization of a human class III myosin."
      Dose A.C., Burnside B.
      Genomics 67:333-342(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-1313.
    2. "From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30."
      Walsh T., Walsh V., Vreugde S., Hertzano R., Shahin H., Haika S., Lee M.K., Kanaan M., King M.-C., Avraham K.B.
      Proc. Natl. Acad. Sci. U.S.A. 99:7518-7523(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-1313, INVOLVEMENT IN DFNB30, FUNCTION.
    3. "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.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    5. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-178; HIS-319; VAL-348; ILE-369; LYS-525; SER-833; ASN-956; ARG-956; THR-1032; MET-1045; MET-1137; ALA-1195; SER-1284; THR-1287; SER-1313; HIS-1347; ILE-1417 AND GLU-1488.

    Entry informationi

    Entry nameiMYO3A_HUMAN
    AccessioniPrimary (citable) accession number: Q8NEV4
    Secondary accession number(s): Q4G0X2
    , Q5VZ28, Q8WX17, Q9NYS8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2004
    Last sequence update: November 13, 2007
    Last modified: October 1, 2014
    This is version 119 of the entry and version 2 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 10
      Human chromosome 10: 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. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3