Q9UKN7 (MYO15_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Unconventional myosin-XV

Alternative name(s):
Unconventional myosin-15

Gene names

Name:	MYO15A
Synonyms:	MYO15

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	3530 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles By similarity.
Subunit structure	Interacts with the third PDZ domain of WHRN which is necessary for localization of WHRN to stereocilium tips. Interacts with EPS8 By similarity. Interacts with FASLG. Ref.4
Subcellular location	Cell projection › stereocilium By similarity. Cytoplasm › cytoskeleton By similarity. Note: Localizes to stereocilium tips in cochlear and vestibular hair cells By similarity.
Tissue specificity	Highly expressed in pituitary. Also expressed at lower levels in adult brain, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in brain. In the pituitary, highly expressed in anterior gland cells. Ref.2
Involvement in disease	Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.5
Sequence similarities	Contains 1 FERM domain. Contains 3 IQ domains. Contains 1 myosin head-like domain. Contains 2 MyTH4 domains. Contains 1 SH3 domain.
Caution	Represents a unconventional myosin. This protein should not be confused with the conventional myosin-15 (MYH15).

Ontologies

Keywords
Biological process	Hearing
Cellular component	Cell projection Cytoplasm Cytoskeleton
Disease	Deafness Disease mutation Non-syndromic deafness
Domain	Coiled coil Repeat SH3 domain
Ligand	ATP-binding Actin-binding Calmodulin-binding Nucleotide-binding
Molecular function	Motor protein Myosin
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	inner ear morphogenesis Inferred from electronic annotation. Source: Compara locomotory behavior Inferred from electronic annotation. Source: Compara sensory perception of sound Traceable author statement Ref.2. Source: ProtInc
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW myosin complex Inferred from electronic annotation. Source: UniProtKB-KW stereocilium Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW motor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3530	3530	Unconventional myosin-XV		PRO_0000123474
Regions
	Domain	1 – 1887	1887	Myosin head-like
	Domain	1902 – 1924	23	IQ 1
	Domain	1925 – 1954	30	IQ 2
	Domain	1955 – 1976	22	IQ 3
	Domain	2065 – 2217	153	MyTH4 1
	Domain	2867 – 2953	87	SH3
	Domain	3050 – 3204	155	MyTH4 2
	Domain	3209 – 3530	322	FERM
	Nucleotide binding	1315 – 1322	8	ATP Potential
	Region	1792 – 1799	8	Actin-binding Potential
	Region	1888 – 2029	142	Neck or regulatory domain
	Region	2030 – 3530	1501	Tail
	Coiled coil	1323 – 1350	28	Potential
Natural variations
	Natural variant	1977	1	C → R. Corresponds to variant rs854777 [ dbSNP | Ensembl ].		VAR_037959
	Natural variant	2018	1	G → R. Corresponds to variant rs2272571 [ dbSNP | Ensembl ].		VAR_037960
	Natural variant	2111	1	N → Y in DFNB3; family from Bengkala. Ref.1		VAR_010303
	Natural variant	2113	1	I → F in DFNB3; Indian family. Ref.1		VAR_010304
	Natural variant	2205	1	T → I Associated with moderately severe sensorineural hearing loss (DFNB3) in a Smith-Magenis syndrome patient. Ref.5		VAR_037961
	Natural variant	2490	1	A → T. Corresponds to variant rs16960959 [ dbSNP | Ensembl ].		VAR_037962
	Natural variant	2682	1	Y → F. Corresponds to variant rs712270 [ dbSNP | Ensembl ].		VAR_037963
	Natural variant	2716	1	Q → H in DFNB3. Ref.5		VAR_037964
Experimental info
	Sequence conflict	595	1	A → T in AAF05903. Ref.2
	Sequence conflict	595	1	A → T in AF051976. Ref.2
	Sequence conflict	718	1	W → G in AAF05903. Ref.2
	Sequence conflict	718	1	W → G in AF051976. Ref.2
	Sequence conflict	1646	1	C → R in AAF05903. Ref.2
	Sequence conflict	2468	1	E → G in AAF05903. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9UKN7 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: DCCFBAD37BEA6309	FASTA	3,530	395,293
	10 20 30 40 50 60 MAKEEDEEKK AKKGKKGKKA PEPEKPKRSL KGTSRLFMGF RDRTPKISKK GQFRSASAFF 70 80 90 100 110 120 WGLHTGPQKT KRKRKARTVL KSTSKLMTQM RMGKKKRAMK GKKPSFMVIR FPGRRGYGRL 130 140 150 160 170 180 RPRARSLSKA STAINWLTKK FLLKKAEESG SEQATVDAWL QRSSSRMGSR KLPFPSGAEI 190 200 210 220 230 240 LRPGGRLRRF PRSRSIYASG EPLGFLPFED EAPFHHSGSR KSLYGLEGFQ DLGEYYDYHR 250 260 270 280 290 300 DGDDYYDRQS LHRYEEQEPY LAGLGPYSPA WPPYGDHYYG YPPEDPYDYY HPDYYGGPFD 310 320 330 340 350 360 PGYTYGYGYD DYEPPYAPPS GYSSPYSYHD GYEGEAHPYG YYLDPYAPYD APYPPYDLPY 370 380 390 400 410 420 HTPYDVPYFD PYGVHYTVPY AEGVYGGGDE AIYPPEVPYF YPEESASAFV YPWVPPPIPS 430 440 450 460 470 480 PHNPYAHAMD DIAELEEPED AGVERQGTSF RLPSAAFFEQ QGMDKPARSK LSLIRKFRLF 490 500 510 520 530 540 PRPQVKLFGK EKLEVPLPPS LDIPLPLGDA DEEEDEEELP PVSAVPYGHP FWGFLTPRQR 550 560 570 580 590 600 NLQRALSAFG AHRGLGFGPE FGRPVPRPAT SLARFLKKTL SEKKPIARLR GSQKARAGGP 610 620 630 640 650 660 AVREAAYKRF GYKLAGMDPE KPGTPIVLRR AQPRARSSND ARRPPAPQPA PRTLSHWSAL 670 680 690 700 710 720 LSPPVPPRPP SSGPPPAPPL SPALSGLPRP ASPYGSLRRH PPPWAAPAHV PPAPQASWWA 730 740 750 760 770 780 FVEPPAVSPE VPPDLLAFPG PRPSFRGSRR RGAAFGFPGA SPRASRRRAW SPLASPQPSL 790 800 810 820 830 840 RSSPGLGYCS PLAPPSPQLS LRTGPFQPPF LPPARRPRSL QESPAPRRAA GRLGPPGSPL 850 860 870 880 890 900 PGSPRPPSPP LGLCHSPRRS SLNLPSRLPH TWRRLSEPPT RAVKPQVRLP FHRPPRAGAW 910 920 930 940 950 960 RAPLEHRESP REPEDSETPW TVPPLAPSWD VDMPPTQRPP SPWPGGAGSR RGFSRPPPVP 970 980 990 1000 1010 1020 ENPFLQLLGP VPSPTLQPED PAADMTRVFL GRHHEPGPGQ LTKSAGPTPE KPEEEATLGD 1030 1040 1050 1060 1070 1080 PQLPAETKPP TPAPPKDVTP PKDITPPKDV LPEQKTLRPS LSYPLAACDQ TRATWPPWHR 1090 1100 1110 1120 1130 1140 WGTLPQAAAP LAPIRAPEPL PKGGERRQAA PGRFAVVMPR VQKLSSFQRV GPATLKPQVQ 1150 1160 1170 1180 1190 1200 PIQDPKPRAC SLRWSCLWLR ADAYGPWPRV HTHPQSCHLG PGAACLSLRG SWEEVGPPSW 1210 1220 1230 1240 1250 1260 RNKMHSIRNL PSMRFREQHG EDGVEDMTQL EDLQETTVLS NLKIRFERNL IYTYIGSILV 1270 1280 1290 1300 1310 1320 SVNPYQMFGI YGPEQVQQYN GRALGENPPH LFAVANLAFA KMLDAKQNQC IIISGESGSG 1330 1340 1350 1360 1370 1380 KTEATKLILR YLAAMNQKRE VMQQIKILEA TPLLESFGNA KTVRNDNSSR FGKFVEIFLE 1390 1400 1410 1420 1430 1440 GGVISGAITS QYLLEKSRIV FQAKNERNYH IFYELLAGLP AQLRQAFSLQ EAETYYYLNQ 1450 1460 1470 1480 1490 1500 GGNCEIAGKS DADDFRRLLA AMEVLGFSSE DQDSIFRILA SILHLGNVYF EKYETDAQEV 1510 1520 1530 1540 1550 1560 ASVVSAREIQ AVAELLQISP EGLQKAITFK VTETMREKIF TPLTVESAVD ARDAIAKVLY 1570 1580 1590 1600 1610 1620 ALLFSWLITR VNALVSPRQD TLSIAILDIY GFEDLSFNSF EQLCINYANE NLQYLFNKIV 1630 1640 1650 1660 1670 1680 FQEEQEEYIR EQIDWQEITF ADNQPCINLI SLKPYGILRI LDDQCCFPQA TDHTFLQKCH 1690 1700 1710 1720 1730 1740 YHHGANPLYS KPKMPLPEFT IKHYAGKVTY QVHKFLDKNH DQVRQDVLDL FVRSRTRVVA 1750 1760 1770 1780 1790 1800 HLFSSHAPQA APQRLGKSSS VTRLYKAHTV AAKFQQSLLD LVEKMERCNP LFMRCLKPNH 1810 1820 1830 1840 1850 1860 KKEPGLFEPD VVMAQLRYSG VLETVRIRKE GFPVRLPFQG FIDRYCCLVA LKHDLPANGD 1870 1880 1890 1900 1910 1920 MCVSVLSRLC KVMPNMYRVG VSKLFLKEHL YQLLESMREH VLNLAALTLQ RCLRGFFIKR 1930 1940 1950 1960 1970 1980 RFRSLRHKII LLQSRARGYL ARQRYQQMRR SLVKFRSLVH AYVSRRRYLK LRAEWRCQVE 1990 2000 2010 2020 2030 2040 GALLWEQEEL SKREVVAVGH LEVPAELAGL LQAVAGLGLA QVPQVAPVRT PRLQAEPRVT 2050 2060 2070 2080 2090 2100 LPLDINNYPM AKFVQCHFKE PAFGMLTVPL RTPLTQLPAE HHAEAVSIFK LILRFMGDPH 2110 2120 2130 2140 2150 2160 LHGARENIFG NYIVQKGLAV PELRDEILAQ LANQVWHNHN AHNAERGWLL LAACLSGFAP 2170 2180 2190 2200 2210 2220 SPCFNKYLLK FVSDYGRNGF QAVCQHRLMQ AMGRAQQQGS GAARTLPPTQ LEWTATYEKA 2230 2240 2250 2260 2270 2280 SMALDVGCFN GDQFSCPVHS WSTGEEVAGD ILRHRGLADG WRGWTVAMKN GVQWAELAGH 2290 2300 2310 2320 2330 2340 DYVLDLVSDL ELLRDFPRQK SYFIVGTEGP AASRGGPKVV FGNSWDSDED MSTRPQPQEH 2350 2360 2370 2380 2390 2400 MPKVLDSDGY SSHNQDGTNG ETEAQRGTAT HQESDSLGEP AVPHKGLDCY LDSLFDPVLS 2410 2420 2430 2440 2450 2460 YGDADLEKPT AIAYRMKGGG QPGGGSSSGT EDTPRRPPEP KPIPGLDAST LALQQAFIHK 2470 2480 2490 2500 2510 2520 QAVLLAREMT LQATALQQQP LSAALRSLPA EKPPAPEAQP TSVGTGPPAK PVLLRATPKP 2530 2540 2550 2560 2570 2580 LAPAPLAKAP RLPIKPVAAP VLAQDQASPE TTSPSPELVR YSTLNSEHFP QPTQQIKNIV 2590 2600 2610 2620 2630 2640 RQYQQPFRGG RPEALRKDGG KVFMKRPDPH EEALMILKGQ MTHLAAAPGT QVSREAVALV 2650 2660 2670 2680 2690 2700 KPVTSAPRPS MAPTSALPSR SLEPPEELTQ TRLHRLINPN FYGYQDAPWK IFLRKEVFYP 2710 2720 2730 2740 2750 2760 KDSYSHPVQL DLLFRQILHD TLSEACLRIS EDERLRMKAL FAQNQLDTQK PLVTESVKRA 2770 2780 2790 2800 2810 2820 VVSTARDTWE VYFSRIFPAT GSVGTGVQLL AVSHVGIKLL RMVKGGQEAG GQLRVLRAYS 2830 2840 2850 2860 2870 2880 FADILFVTMP SQNMLEFNLA SEKVILFSAR AHQVKTLVDD FILELKKDSD YVVAVRNFLP 2890 2900 2910 2920 2930 2940 EDPALLAFHK GDIIHLQPLE PPRVGYSAGC VVRRKVVYLE ELRRRGPDFG WRFGTIHGRV 2950 2960 2970 2980 2990 3000 GRFPSELVQP AAAPDFLQLP TEPGRGRAAA VAAAVASAAA AQEVGRRREG PPVRARSADH 3010 3020 3030 3040 3050 3060 GEDALALPPY TMLEFAQKYF RDPQRRPQDG LRLKSKEPRE SRTLEDMLCF TKTPLQESLI 3070 3080 3090 3100 3110 3120 ELSDSSLSKM ATDMFLAVMR FMGDAPLKGQ SDLDVLCNLL KLCGDHEVMR DECYCQVVKQ 3130 3140 3150 3160 3170 3180 ITDNTSSKQD SCQRGWRLLY IVTAYHSCSE VLHPHLTRFL QDVSRTPGLP FQGIAKACEQ 3190 3200 3210 3220 3230 3240 NLQKTLRFGG RLELPSSIEL RAMLAGRSSK RQLFLLPGGL ERHLKIKTCT VALDVVEEIC 3250 3260 3270 3280 3290 3300 AEMALTRPEA FNEYVIFVVT NRGQHVCPLS RRAYILDVAS EMEQVDGGYM LWFRRVLWDQ 3310 3320 3330 3340 3350 3360 PLKFENELYV TMHYNQVLPD YLKGLFSSVP ASRPSEQLLQ QVSKLASLQH RAKDHFYLPS 3370 3380 3390 3400 3410 3420 VREVQEYIPA QLYRTTAGST WLNLVSQHRQ QTQALSPHQA RAQFLGLLSA LPMFGSSFFF 3430 3440 3450 3460 3470 3480 IQSCSNIAVP APCILAINHN GLNFLSTETH ELMVKFPLKE IQSTRTQRPT ANSSYPYVEI 3490 3500 3510 3520 3530 ALGDVAAQRT LQLQLEQGLE LCRVVAVHVE NLLSAHEKRL TLPPSEITLL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3." Wang A., Liang Y., Fridell R.A., Probst F.J., Wilcox E.R., Touchman J.W., Morton C.C., Morell R.J., Noben-Trauth K., Camper S.A., Friedman T.B. Science 280:1447-1451(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DFNB3 TYR-2111 AND PHE-2113.
[2]	"Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2." Liang Y., Wang A., Belyantseva I.A., Anderson D.W., Probst F.J., Barber T.D., Miller W., Touchman J.W., Jin L., Sullivan S.L., Sellers J.R., Camper S.A., Lloyd R.V., Kachar B., Friedman T.B., Fridell R.A. Genomics 61:243-258(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening." Voss M., Lettau M., Janssen O. BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FASLG.
[5]	"Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome." Liburd N., Ghosh M., Riazuddin S., Naz S., Khan S., Ahmed Z., Riazuddin S., Liang Y., Menon P.S.N., Smith T., Smith A.C.M., Chen K.-S., Lupski J.R., Wilcox E.R., Potocki L., Friedman T.B. Hum. Genet. 109:535-541(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DFNB3 HIS-2716, VARIANT ILE-2205.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF051976 Genomic DNA. No translation available. AF144094 mRNA. Translation: AAF05903.1. AC087164 Genomic DNA. No translation available.
IPI	IPI00152380.
PIR	A59266.
RefSeq	NP_057323.3. NM_016239.3.
UniGene	Hs.462390.
3D structure databases
ProteinModelPortal	Q9UKN7.
SMR	Q9UKN7. Positions 1181-1898, 2044-2291, 2685-2956, 3065-3443.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UKN7. 3 interactions.
STRING	9606.ENSP00000205890.
PTM databases
PhosphoSite	Q9UKN7.
Polymorphism databases
DMDM	296439233.
Proteomic databases
PaxDb	Q9UKN7.
PRIDE	Q9UKN7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000205890; ENSP00000205890; ENSG00000091536.
GeneID	51168.
KEGG	hsa:51168.
UCSC	uc021trl.1. human.
Organism-specific databases
CTD	51168.
GeneCards	GC17P018012.
H-InvDB	HIX0013595.
HGNC	HGNC:7594. MYO15A.
HPA	HPA039770.
MIM	600316. phenotype. 602666. gene.
neXtProt	NX_Q9UKN7.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKB	PA31395.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5022.
HOGENOM	HOG000113705.
HOVERGEN	HBG052554.
InParanoid	Q9UKN7.
KO	K10361.
OMA	FAQKYFR.
OrthoDB	EOG4QJRM9.
Gene expression databases
ArrayExpress	Q9UKN7.
Bgee	Q9UKN7.
CleanEx	HS_MYO15A.
Genevestigator	Q9UKN7.
GermOnline	ENSG00000091536. Homo sapiens.
Family and domain databases
InterPro	IPR019749. Band_41_domain. IPR019748. FERM_central. IPR000299. FERM_domain. IPR000048. IQ_motif_EF-hand-BS. IPR001609. Myosin_head_motor_dom. IPR000857. MyTH4_dom. IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view]
Pfam	PF00373. FERM_M. 1 hit. PF00612. IQ. 1 hit. PF00063. Myosin_head. 1 hit. PF00784. MyTH4. 2 hits. PF07653. SH3_2. 1 hit. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
SMART	SM00295. B41. 1 hit. SM00015. IQ. 3 hits. SM00242. MYSc. 1 hit. SM00139. MyTH4. 2 hits. SM00326. SH3. 1 hit. [Graphical view]
SUPFAM	SSF47031. FERM_3-hlx. 1 hit. SSF50044. SH3. 1 hit.
PROSITE	PS00660. FERM_1. False negative. PS00661. FERM_2. False negative. PS50057. FERM_3. 1 hit. PS50096. IQ. 3 hits. PS51016. MYTH4. 2 hits. PS50002. SH3. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	51168.
NextBio	54107.
SOURCE	Search...

Entry information

Entry name

MYO15_HUMAN

Accession

Primary (citable) accession number: Q9UKN7

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 121 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.