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Q8NEV4

- MYO3A_HUMAN

UniProt

Q8NEV4 - MYO3A_HUMAN

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Protein

Myosin-IIIa

Gene

MYO3A

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

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
Complete GO annotation...

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
Complete GO annotation...

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 non-syndromic 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

BgeeiQ8NEV4.
CleanExiHS_MYO3A.
ExpressionAtlasiQ8NEV4. baseline and differential.
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 15-1142.
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.
GeneTreeiENSGT00760000119009.
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.
[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

        10         20         30         40         50
MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK
60 70 80 90 100
ILDPIHDIDE EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL
110 120 130 140 150
ELCSGGSVTD LVKGFLKRGE RMSEPLIAYI LHEALMGLQH LHNNKTIHRD
160 170 180 190 200
VKGNNILLTT EGGVKLVDFG VSAQLTSTRH RRNTSVGTPF WMAPEVIACE
210 220 230 240 250
QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF KIPRNPPPKL
260 270 280 290 300
RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ
310 320 330 340 350
LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEILD
360 370 380 390 400
ENTVSEQLEK CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR
410 420 430 440 450
TASPPHIFAM ADLGYQSMIT YNSDQCIVIS GESGAGKTEN AHLLVQQLTV
460 470 480 490 500
LGKANNRTLQ EKILQVNNLV EAFGNACTII NDNSSRFGKY LEMKFTSSGA
510 520 530 540 550
VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK KLAHYKLPEN
560 570 580 590 600
KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEQLGSIYSI
610 620 630 640 650
LAAILNVGNI EFSSVATEHQ IDKSHISNHT ALENCASLLC IRADELQEAL
660 670 680 690 700
TSHCVVTRGE TIIRPNTVEK ATDVRDAMAK TLYGRLFSWI VNCINSLLKH
710 720 730 740 750
DSSPSGNGDE LSIGILDIFG FENFKKNSFE QLCINIANEQ IQYYYNQHVF
760 770 780 790 800
AWEQNEYLNE DVDARVIEYE DNWPLLDMFL QKPMGLLSLL DEESRFPKAT
810 820 830 840 850
DQTLVEKFEG NLKSQYFWRP KRMELSFGIH HYAGKVLYNA SGFLAKNRDT
860 870 880 890 900
LPTDIVLLLR SSDNSVIRQL VNHPLTKTGN LPHSKTKNVI NYQMRTSEKL
910 920 930 940 950
INLAKGDTGE ATRHARETTN MKTQTVASYF RYSLMDLLSK MVVGQPHFVR
960 970 980 990 1000
CIKPNSERQA RKYDKEKVLL QLRYTGILET ARIRRLGFSH RILFANFIKR
1010 1020 1030 1040 1050
YYLLCYKSSE EPRMSPDTCA TILEKAGLDN WALGKTKVFL KYYHVEQLNL
1060 1070 1080 1090 1100
MRKEAIDKLI LIQACVRAFL CSRRYQKIQE KRKESAIIIQ SAARGHLVRK
1110 1120 1130 1140 1150
QRKEIVDMKN TAVTTIQTSD QEFDYKKNFE NTRESFVKKQ AENAISANER
1160 1170 1180 1190 1200
FISAPNNKGS VSVVKTSTFK PEEETTNAVE SNNRVYQTPK KMNNVYEEEV
1210 1220 1230 1240 1250
KQEFYLVGPE VSPKQKSVKD LEENSNLRKV EKEEAMIQSY YQRYTEERNC
1260 1270 1280 1290 1300
EESKAAYLER KAISERPSYP VPWLAENETS FKKTLEPTLS QRSIYQNANS
1310 1320 1330 1340 1350
MEKEKKTSVV TQRAPICSQE EGRGRLRHET VKERQVEPVT QAQEEEDKAA
1360 1370 1380 1390 1400
VFIQSKYRGY KRRQQLRKDK MSSFKHQRIV TTPTEVARNT HNLYSYPTKH
1410 1420 1430 1440 1450
EEINNIKKKD NKDSKATSER EACGLAIFSK QISKLSEEYF ILQKKLNEMI
1460 1470 1480 1490 1500
LSQQLKSLYL GVSHHKPINR RVSSQQCLSG VCKGEEPKIL RPPRRPRKPK
1510 1520 1530 1540 1550
TLNNPEDSTY YYLLHKSIQE EKRRPRKDSQ GKLLDLEDFY YKEFLPSRSG
1560 1570 1580 1590 1600
PKEHSPSLRE RRPQQELQNQ CIKANERCWA AESPEKEEER EPAANPYDFR
1610
RLLRKTSQRR RLVQQS
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. [Q8NEV4-1]
RefSeqiNP_059129.3. NM_017433.4.
UniGeneiHs.662630.

Genome annotation databases

EnsembliENST00000265944; ENSP00000265944; ENSG00000095777. [Q8NEV4-1]
ENST00000376302; ENSP00000365479; ENSG00000095777. [Q8NEV4-2]
GeneIDi53904.
KEGGihsa:53904.
UCSCiuc001isn.2. human. [Q8NEV4-1]

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. [Q8NEV4-1 ]
RefSeqi NP_059129.3. NM_017433.4.
UniGenei Hs.662630.

3D structure databases

ProteinModelPortali Q8NEV4.
SMRi Q8NEV4. Positions 15-1142.
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 . [Q8NEV4-1 ]
ENST00000376302 ; ENSP00000365479 ; ENSG00000095777 . [Q8NEV4-2 ]
GeneIDi 53904.
KEGGi hsa:53904.
UCSCi uc001isn.2. human. [Q8NEV4-1 ]

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 non-syndromic sensorineural deafness type DFNB.
PharmGKBi PA31405.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00760000119009.
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 35538702.
PROi Q8NEV4.
SOURCEi Search...

Gene expression databases

Bgeei Q8NEV4.
CleanExi HS_MYO3A.
ExpressionAtlasi Q8NEV4. baseline and differential.
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.
[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

« Hide 'large scale' publications
  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 29, 2014
This is version 120 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