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Q8NEV4 (MYO3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myosin-IIIa

EC=2.7.11.1
Gene names
Name:MYO3A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1616 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing. Ref.2

Catalytic activity

ATP + a protein = ADP + a phosphoprotein.

Subcellular location

Cytoplasmcytoskeleton.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Sequence similarities

In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.

Contains 3 IQ domains.

Contains 1 myosin head-like domain.

Contains 1 protein kinase domain.

Ontologies

Keywords
   Biological processHearing
Sensory transduction
Vision
   Cellular componentCytoplasm
Cytoskeleton
   Coding sequence diversityPolymorphism
   DiseaseDeafness
Non-syndromic deafness
   DomainRepeat
   LigandActin-binding
ATP-binding
Nucleotide-binding
   Molecular functionKinase
Motor protein
Myosin
Serine/threonine-protein kinase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from direct assay PubMed 12672820. Source: GOC

inner ear development

Inferred from electronic annotation. Source: Ensembl

peptidyl-serine phosphorylation

Inferred from electronic annotation. Source: Ensembl

peptidyl-threonine phosphorylation

Inferred from electronic annotation. Source: Ensembl

positive regulation of filopodium assembly

Inferred from electronic annotation. Source: Ensembl

protein autophosphorylation

Inferred from direct assay PubMed 12672820. Source: UniProtKB

response to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

sensory perception of sound

Inferred from mutant phenotype Ref.2. Source: UniProtKB

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

filamentous actin

Inferred from direct assay PubMed 12672820. Source: UniProtKB

filopodium

Inferred from direct assay PubMed 17021180. Source: UniProtKB

filopodium tip

Inferred from electronic annotation. Source: Ensembl

myosin complex

Inferred from electronic annotation. Source: UniProtKB-KW

photoreceptor inner segment

Inferred from electronic annotation. Source: Ensembl

stereocilium bundle tip

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionADP binding

Inferred from direct assay PubMed 12672820. Source: UniProtKB

ATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

actin-dependent ATPase activity

Inferred from direct assay PubMed 12672820. Source: UniProtKB

calmodulin binding

Inferred from direct assay PubMed 12672820. Source: UniProtKB

microfilament motor activity

Inferred from direct assay PubMed 1262820. Source: UniProtKB

plus-end directed microfilament motor activity

Inferred from direct assay PubMed 12672820. Source: UniProtKB

protein kinase activity

Inferred from direct assay PubMed 12672820. Source: UniProtKB

protein serine/threonine kinase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16161616Myosin-IIIa
PRO_0000086413

Regions

Domain21 – 287267Protein kinase
Domain340 – 1041702Myosin head-like
Domain1055 – 108430IQ 1
Domain1082 – 111130IQ 2
Domain1346 – 137530IQ 3
Nucleotide binding27 – 359ATP By similarity

Sites

Active site1501Proton acceptor By similarity
Binding site501ATP By similarity

Natural variations

Natural variant1781T → I. Ref.4
Corresponds to variant rs33968748 [ dbSNP | Ensembl ].
VAR_040871
Natural variant2041D → N.
Corresponds to variant rs3737274 [ dbSNP | Ensembl ].
VAR_021866
Natural variant3191R → H. Ref.4
Corresponds to variant rs3824700 [ dbSNP | Ensembl ].
VAR_040872
Natural variant3481I → V. Ref.4
Corresponds to variant rs3824699 [ dbSNP | Ensembl ].
VAR_040873
Natural variant3691V → I. Ref.4
Corresponds to variant rs3817420 [ dbSNP | Ensembl ].
VAR_040874
Natural variant5251N → K in an ovarian mucinous carcinoma sample; somatic mutation. Ref.4
VAR_040875
Natural variant8331A → S. Ref.4
Corresponds to variant rs33947968 [ dbSNP | Ensembl ].
VAR_040876
Natural variant9561S → N. Ref.4
Corresponds to variant rs3758449 [ dbSNP | Ensembl ].
VAR_021867
Natural variant9561S → R in an ovarian serous carcinoma sample; somatic mutation. Ref.4
VAR_040877
Natural variant10321A → T. Ref.4
Corresponds to variant rs34918608 [ dbSNP | Ensembl ].
VAR_040878
Natural variant10451V → M. Ref.4
Corresponds to variant rs35447806 [ dbSNP | Ensembl ].
VAR_040879
Natural variant11371V → M. Ref.4
Corresponds to variant rs35449183 [ dbSNP | Ensembl ].
VAR_040880
Natural variant11951V → A. Ref.4
Corresponds to variant rs35675577 [ dbSNP | Ensembl ].
VAR_040881
Natural variant12841T → S. Ref.4
Corresponds to variant rs3740231 [ dbSNP | Ensembl ].
VAR_033905
Natural variant12871P → T. Ref.4
Corresponds to variant rs35575696 [ dbSNP | Ensembl ].
VAR_040882
Natural variant13131R → S. Ref.1 Ref.2 Ref.4
Corresponds to variant rs1999240 [ dbSNP | Ensembl ].
VAR_022779
Natural variant13471D → H in a renal clear cell carcinoma sample; somatic mutation. Ref.4
VAR_040883
Natural variant14171T → I. Ref.4
Corresponds to variant rs34151474 [ dbSNP | Ensembl ].
VAR_040884
Natural variant14881K → E. Ref.4
Corresponds to variant rs34204285 [ dbSNP | Ensembl ].
VAR_040885

Experimental info

Sequence conflict4181M → I Ref.1
Sequence conflict4181M → I Ref.2
Sequence conflict6361A → V Ref.1
Sequence conflict6361A → V Ref.2
Sequence conflict848 – 8514RDTL → KTLV in AAF70861. Ref.2
Sequence conflict886 – 8905TKNVI → LKML in AAF70861. Ref.2
Sequence conflict10991R → G Ref.1
Sequence conflict10991R → G Ref.2
Sequence conflict12171S → F Ref.1
Sequence conflict12171S → F Ref.2
Sequence conflict13781R → K Ref.1
Sequence conflict13781R → K Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q8NEV4 [UniParc].

Last modified November 13, 2007. Version 2.
Checksum: 7D126A7E22520574

FASTA1,616186,208
        10         20         30         40         50         60 
MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK ILDPIHDIDE 

        70         80         90        100        110        120 
EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL ELCSGGSVTD LVKGFLKRGE 

       130        140        150        160        170        180 
RMSEPLIAYI LHEALMGLQH LHNNKTIHRD VKGNNILLTT EGGVKLVDFG VSAQLTSTRH 

       190        200        210        220        230        240 
RRNTSVGTPF WMAPEVIACE QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF 

       250        260        270        280        290        300 
KIPRNPPPKL RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ 

       310        320        330        340        350        360 
LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEILD ENTVSEQLEK 

       370        380        390        400        410        420 
CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR TASPPHIFAM ADLGYQSMIT 

       430        440        450        460        470        480 
YNSDQCIVIS GESGAGKTEN AHLLVQQLTV LGKANNRTLQ EKILQVNNLV EAFGNACTII 

       490        500        510        520        530        540 
NDNSSRFGKY LEMKFTSSGA VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK 

       550        560        570        580        590        600 
KLAHYKLPEN KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEQLGSIYSI 

       610        620        630        640        650        660 
LAAILNVGNI EFSSVATEHQ IDKSHISNHT ALENCASLLC IRADELQEAL TSHCVVTRGE 

       670        680        690        700        710        720 
TIIRPNTVEK ATDVRDAMAK TLYGRLFSWI VNCINSLLKH DSSPSGNGDE LSIGILDIFG 

       730        740        750        760        770        780 
FENFKKNSFE QLCINIANEQ IQYYYNQHVF AWEQNEYLNE DVDARVIEYE DNWPLLDMFL 

       790        800        810        820        830        840 
QKPMGLLSLL DEESRFPKAT DQTLVEKFEG NLKSQYFWRP KRMELSFGIH HYAGKVLYNA 

       850        860        870        880        890        900 
SGFLAKNRDT LPTDIVLLLR SSDNSVIRQL VNHPLTKTGN LPHSKTKNVI NYQMRTSEKL 

       910        920        930        940        950        960 
INLAKGDTGE ATRHARETTN MKTQTVASYF RYSLMDLLSK MVVGQPHFVR CIKPNSERQA 

       970        980        990       1000       1010       1020 
RKYDKEKVLL QLRYTGILET ARIRRLGFSH RILFANFIKR YYLLCYKSSE EPRMSPDTCA 

      1030       1040       1050       1060       1070       1080 
TILEKAGLDN WALGKTKVFL KYYHVEQLNL MRKEAIDKLI LIQACVRAFL CSRRYQKIQE 

      1090       1100       1110       1120       1130       1140 
KRKESAIIIQ SAARGHLVRK QRKEIVDMKN TAVTTIQTSD QEFDYKKNFE NTRESFVKKQ 

      1150       1160       1170       1180       1190       1200 
AENAISANER FISAPNNKGS VSVVKTSTFK PEEETTNAVE SNNRVYQTPK KMNNVYEEEV 

      1210       1220       1230       1240       1250       1260 
KQEFYLVGPE VSPKQKSVKD LEENSNLRKV EKEEAMIQSY YQRYTEERNC EESKAAYLER 

      1270       1280       1290       1300       1310       1320 
KAISERPSYP VPWLAENETS FKKTLEPTLS QRSIYQNANS MEKEKKTSVV TQRAPICSQE 

      1330       1340       1350       1360       1370       1380 
EGRGRLRHET VKERQVEPVT QAQEEEDKAA VFIQSKYRGY KRRQQLRKDK MSSFKHQRIV 

      1390       1400       1410       1420       1430       1440 
TTPTEVARNT HNLYSYPTKH EEINNIKKKD NKDSKATSER EACGLAIFSK QISKLSEEYF 

      1450       1460       1470       1480       1490       1500 
ILQKKLNEMI LSQQLKSLYL GVSHHKPINR RVSSQQCLSG VCKGEEPKIL RPPRRPRKPK 

      1510       1520       1530       1540       1550       1560 
TLNNPEDSTY YYLLHKSIQE EKRRPRKDSQ GKLLDLEDFY YKEFLPSRSG PKEHSPSLRE 

      1570       1580       1590       1600       1610 
RRPQQELQNQ CIKANERCWA AESPEKEEER EPAANPYDFR RLLRKTSQRR RLVQQS 

« Hide

References

« Hide 'large scale' references
[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], 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], 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. expand/collapse author list , 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]"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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF229172 mRNA. Translation: AAF70861.1.
AY101367 mRNA. Translation: AAM34500.1.
AL162503 expand/collapse EMBL AC list , AL358612, AL360217, AL391812 Genomic DNA. Translation: CAH73661.1.
AL358612 expand/collapse EMBL AC list , AL162503, AL360217, AL391812 Genomic DNA. Translation: CAH73814.1.
AL360217 Genomic DNA. Translation: CAD13206.2.
AL391812 expand/collapse EMBL AC list , AL162503, AL358612, AL360217 Genomic DNA. Translation: CAI17380.1.
RefSeqNP_059129.3. NM_017433.4.
UniGeneHs.662630.

3D structure databases

ProteinModelPortalQ8NEV4.
SMRQ8NEV4. Positions 14-1142.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119814. 1 interaction.
IntActQ8NEV4. 1 interaction.
STRING9606.ENSP00000265944.

Chemistry

BindingDBQ8NEV4.
ChEMBLCHEMBL5546.
GuidetoPHARMACOLOGY2112.

PTM databases

PhosphoSiteQ8NEV4.

Polymorphism databases

DMDM160112826.

Proteomic databases

PaxDbQ8NEV4.
PRIDEQ8NEV4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265944; ENSP00000265944; ENSG00000095777.
GeneID53904.
KEGGhsa:53904.
UCSCuc001isn.2. human.

Organism-specific databases

CTD53904.
GeneCardsGC10P026263.
H-InvDBHIX0201520.
HGNCHGNC:7601. MYO3A.
HPAHPA048951.
MIM606808. gene.
607101. phenotype.
neXtProtNX_Q8NEV4.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA31405.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0515.
HOGENOMHOG000007169.
HOVERGENHBG052555.
InParanoidQ8NEV4.
KOK08834.
OMARQARKYD.
OrthoDBEOG7SJD3P.
PhylomeDBQ8NEV4.
TreeFamTF326512.

Enzyme and pathway databases

SignaLinkQ8NEV4.

Gene expression databases

ArrayExpressQ8NEV4.
BgeeQ8NEV4.
CleanExHS_MYO3A.
GenevestigatorQ8NEV4.

Family and domain databases

InterProIPR000048. 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]
PfamPF00612. IQ. 2 hits.
PF00063. Myosin_head. 1 hit.
PF00069. Pkinase. 1 hit.
[Graphical view]
PRINTSPR00193. MYOSINHEAVY.
SMARTSM00015. IQ. 3 hits.
SM00242. MYSc. 1 hit.
SM00220. S_TKc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
SSF56112. SSF56112. 1 hit.
PROSITEPS50096. IQ. 3 hits.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMYO3A.
GenomeRNAi53904.
NextBio56212.
PROQ8NEV4.
SOURCESearch...

Entry information

Entry nameMYO3A_HUMAN
AccessionPrimary (citable) accession number: Q8NEV4
Secondary accession number(s): Q5VZ28, Q8WX17, Q9NYS8
Entry history
Integrated into UniProtKB/Swiss-Prot: April 26, 2004
Last sequence update: November 13, 2007
Last modified: April 16, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM