Q8NEV4 (MYO3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myosin-IIIa
EC=2.7.11.1

Gene names

Name:

MYO3A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1616 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton.
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 process	Hearing Sensory transduction Vision
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Polymorphism
Disease	Deafness Non-syndromic deafness
Domain	Repeat
Ligand	ATP-binding Actin-binding Nucleotide-binding
Molecular function	Kinase Motor protein Myosin Serine/threonine-protein kinase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	inner ear development Inferred from electronic annotation. Source: Compara peptidyl-serine phosphorylation Inferred from electronic annotation. Source: Compara peptidyl-threonine phosphorylation Inferred from electronic annotation. Source: Compara positive regulation of filopodium assembly Inferred from electronic annotation. Source: Compara 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_component	cytoplasm 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: Compara myosin complex Inferred from electronic annotation. Source: UniProtKB-KW photoreceptor inner segment Inferred from electronic annotation. Source: Compara stereocilium bundle tip Inferred from electronic annotation. Source: Compara
Molecular_function	ADP 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 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1616	1616	Myosin-IIIa		PRO_0000086413
Regions
	Domain	21 – 287	267	Protein kinase
	Domain	340 – 1041	702	Myosin head-like
	Domain	1055 – 1084	30	IQ 1
	Domain	1082 – 1111	30	IQ 2
	Domain	1346 – 1375	30	IQ 3
	Nucleotide binding	27 – 35	9	ATP By similarity
Sites
	Active site	150	1	Proton acceptor By similarity
	Binding site	50	1	ATP By similarity
Natural variations
	Natural variant	178	1	T → I. Ref.4 Corresponds to variant rs33968748 [ dbSNP | Ensembl ].		VAR_040871
	Natural variant	204	1	D → N. Corresponds to variant rs3737274 [ dbSNP | Ensembl ].		VAR_021866
	Natural variant	319	1	R → H. Ref.4 Corresponds to variant rs3824700 [ dbSNP | Ensembl ].		VAR_040872
	Natural variant	348	1	I → V. Ref.4 Corresponds to variant rs3824699 [ dbSNP | Ensembl ].		VAR_040873
	Natural variant	369	1	V → I. Ref.4 Corresponds to variant rs3817420 [ dbSNP | Ensembl ].		VAR_040874
	Natural variant	525	1	N → K in an ovarian mucinous carcinoma sample; somatic mutation. Ref.4		VAR_040875
	Natural variant	833	1	A → S. Ref.4 Corresponds to variant rs33947968 [ dbSNP | Ensembl ].		VAR_040876
	Natural variant	956	1	S → N. Ref.4 Corresponds to variant rs3758449 [ dbSNP | Ensembl ].		VAR_021867
	Natural variant	956	1	S → R in an ovarian serous carcinoma sample; somatic mutation. Ref.4		VAR_040877
	Natural variant	1032	1	A → T. Ref.4 Corresponds to variant rs34918608 [ dbSNP | Ensembl ].		VAR_040878
	Natural variant	1045	1	V → M. Ref.4 Corresponds to variant rs35447806 [ dbSNP | Ensembl ].		VAR_040879
	Natural variant	1137	1	V → M. Ref.4 Corresponds to variant rs35449183 [ dbSNP | Ensembl ].		VAR_040880
	Natural variant	1195	1	V → A. Ref.4 Corresponds to variant rs35675577 [ dbSNP | Ensembl ].		VAR_040881
	Natural variant	1284	1	T → S. Ref.4 Corresponds to variant rs3740231 [ dbSNP | Ensembl ].		VAR_033905
	Natural variant	1287	1	P → T. Ref.4 Corresponds to variant rs35575696 [ dbSNP | Ensembl ].		VAR_040882
	Natural variant	1313	1	R → S. Ref.1 Ref.2 Ref.4 Corresponds to variant rs1999240 [ dbSNP | Ensembl ].		VAR_022779
	Natural variant	1347	1	D → H in a renal clear cell carcinoma sample; somatic mutation. Ref.4		VAR_040883
	Natural variant	1417	1	T → I. Ref.4 Corresponds to variant rs34151474 [ dbSNP | Ensembl ].		VAR_040884
	Natural variant	1488	1	K → E. Ref.4 Corresponds to variant rs34204285 [ dbSNP | Ensembl ].		VAR_040885
Experimental info
	Sequence conflict	418	1	M → I Ref.1
	Sequence conflict	418	1	M → I Ref.2
	Sequence conflict	636	1	A → V Ref.1
	Sequence conflict	636	1	A → V Ref.2
	Sequence conflict	848 – 851	4	RDTL → KTLV in AAF70861. Ref.2
	Sequence conflict	886 – 890	5	TKNVI → LKML in AAF70861. Ref.2
	Sequence conflict	1099	1	R → G Ref.1
	Sequence conflict	1099	1	R → G Ref.2
	Sequence conflict	1217	1	S → F Ref.1
	Sequence conflict	1217	1	S → F Ref.2
	Sequence conflict	1378	1	R → K Ref.1
	Sequence conflict	1378	1	R → K Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8NEV4 [UniParc]. Last modified November 13, 2007. Version 2. Checksum: 7D126A7E22520574	FASTA	1,616	186,208
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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 , 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.
IPI	IPI00185036.
RefSeq	NP_059129.3. NM_017433.4.
UniGene	Hs.662630.
3D structure databases
ProteinModelPortal	Q8NEV4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NEV4. 1 interaction.
STRING	9606.ENSP00000265944.
PTM databases
PhosphoSite	Q8NEV4.
Polymorphism databases
DMDM	160112826.
Proteomic databases
PaxDb	Q8NEV4.
PRIDE	Q8NEV4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265944; ENSP00000265944; ENSG00000095777.
GeneID	53904.
KEGG	hsa:53904.
UCSC	uc001isn.2. human.
Organism-specific databases
CTD	53904.
GeneCards	GC10P026263.
H-InvDB	HIX0201520.
HGNC	HGNC:7601. MYO3A.
HPA	HPA048951.
MIM	606808. gene. 607101. phenotype.
neXtProt	NX_Q8NEV4.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKB	PA31405.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0515.
HOGENOM	HOG000007169.
HOVERGEN	HBG052555.
InParanoid	Q8NEV4.
KO	K08834.
OMA	NNERQAR.
OrthoDB	EOG4CJVG7.
PhylomeDB	Q8NEV4.
Enzyme and pathway databases
SignaLink	Q8NEV4.
Gene expression databases
ArrayExpress	Q8NEV4.
Bgee	Q8NEV4.
CleanEx	HS_MYO3A.
Genevestigator	Q8NEV4.
GermOnline	ENSG00000095777. Homo sapiens.
Family and domain databases
InterPro	IPR000048. IQ_motif_EF-hand-BS. IPR011009. Kinase-like_dom. IPR001609. Myosin_head_motor_dom. IPR027417. P-loop_NTPase. IPR000719. Prot_kinase_cat_dom. IPR017441. Protein_kinase_ATP_BS. IPR002290. Ser/Thr_dual-sp_kinase_dom. [Graphical view]
Pfam	PF00612. IQ. 2 hits. PF00063. Myosin_head. 1 hit. PF00069. Pkinase. 1 hit. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
SMART	SM00015. IQ. 3 hits. SM00242. MYSc. 1 hit. SM00220. S_TKc. 1 hit. [Graphical view]
SUPFAM	SSF56112. Kinase_like. 1 hit. SSF52540. SSF52540. 1 hit.
PROSITE	PS50096. IQ. 3 hits. PS00107. PROTEIN_KINASE_ATP. 1 hit. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. False negative. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q8NEV4.
ChEMBL	CHEMBL5546.
GenomeRNAi	53904.
NextBio	56212.
SOURCE	Search...

Entry information

Entry name

MYO3A_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 107 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.