Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9UKN7 (MYO15_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Unconventional myosin-XV
Alternative name(s):
Unconventional myosin-15
Gene names
Name:MYO15A
Synonyms:MYO15
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3530 AA.
Sequence statusComplete.
Protein existenceEvidence 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 projectionstereocilium By similarity. Cytoplasmcytoskeleton 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 an unconventional myosin. This protein should not be confused with the conventional myosin-15 (MYH15).

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 35303530Unconventional myosin-XV
PRO_0000123474

Regions

Domain1 – 18871887Myosin head-like
Domain1902 – 192423IQ 1
Domain1925 – 195430IQ 2
Domain1955 – 197622IQ 3
Domain2065 – 2217153MyTH4 1
Domain2867 – 295387SH3
Domain3050 – 3204155MyTH4 2
Domain3209 – 3530322FERM
Nucleotide binding1315 – 13228ATP Potential
Region1792 – 17998Actin-binding Potential
Region1888 – 2029142Neck or regulatory domain
Region2030 – 35301501Tail
Coiled coil1323 – 135028 Potential

Natural variations

Natural variant19771C → R.
Corresponds to variant rs854777 [ dbSNP | Ensembl ].
VAR_037959
Natural variant20181G → R.
Corresponds to variant rs2272571 [ dbSNP | Ensembl ].
VAR_037960
Natural variant21111N → Y in DFNB3; family from Bengkala. Ref.1
VAR_010303
Natural variant21131I → F in DFNB3; Indian family. Ref.1
VAR_010304
Natural variant22051T → I Associated with moderately severe sensorineural hearing loss (DFNB3) in a Smith-Magenis syndrome patient. Ref.5
Corresponds to variant rs121908970 [ dbSNP | Ensembl ].
VAR_037961
Natural variant24901A → T.
Corresponds to variant rs16960959 [ dbSNP | Ensembl ].
VAR_037962
Natural variant26821Y → F.
Corresponds to variant rs712270 [ dbSNP | Ensembl ].
VAR_037963
Natural variant27161Q → H in DFNB3. Ref.5
VAR_037964

Experimental info

Sequence conflict5951A → T in AAF05903. Ref.2
Sequence conflict5951A → T in AF051976. Ref.2
Sequence conflict7181W → G in AAF05903. Ref.2
Sequence conflict7181W → G in AF051976. Ref.2
Sequence conflict16461C → R in AAF05903. Ref.2
Sequence conflict24681E → G in AAF05903. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9UKN7 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: DCCFBAD37BEA6309

FASTA3,530395,293
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.
PIRA59266.
RefSeqNP_057323.3. NM_016239.3.
UniGeneHs.462390.

3D structure databases

ProteinModelPortalQ9UKN7.
SMRQ9UKN7. Positions 1181-1950, 2044-2291, 2684-2956, 3065-3443.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119348. 3 interactions.
IntActQ9UKN7. 3 interactions.
STRING9606.ENSP00000205890.

PTM databases

PhosphoSiteQ9UKN7.

Polymorphism databases

DMDM296439233.

Proteomic databases

PaxDbQ9UKN7.
PRIDEQ9UKN7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000205890; ENSP00000205890; ENSG00000091536.
GeneID51168.
KEGGhsa:51168.
UCSCuc021trl.1. human.

Organism-specific databases

CTD51168.
GeneCardsGC17P018012.
H-InvDBHIX0013595.
HGNCHGNC:7594. MYO15A.
HPAHPA039770.
MIM600316. phenotype.
602666. gene.
neXtProtNX_Q9UKN7.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA31395.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5022.
HOGENOMHOG000113705.
HOVERGENHBG052554.
InParanoidQ9UKN7.
KOK10361.
OMAPSQNMLE.
OrthoDBEOG7XPZ4Q.
PhylomeDBQ9UKN7.
TreeFamTF316834.

Gene expression databases

ArrayExpressQ9UKN7.
BgeeQ9UKN7.
CleanExHS_MYO15A.
GenevestigatorQ9UKN7.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR019749. Band_41_domain.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR000857. MyTH4_dom.
IPR027417. P-loop_NTPase.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamPF00373. FERM_M. 1 hit.
PF00612. IQ. 1 hit.
PF00063. Myosin_head. 1 hit.
PF00784. MyTH4. 2 hits.
PF07653. SH3_2. 1 hit.
[Graphical view]
PRINTSPR00193. MYOSINHEAVY.
SMARTSM00295. B41. 1 hit.
SM00015. IQ. 3 hits.
SM00242. MYSc. 1 hit.
SM00139. MyTH4. 2 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF47031. SSF47031. 1 hit.
SSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEPS50057. FERM_3. 1 hit.
PS50096. IQ. 3 hits.
PS51016. MYTH4. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMYO15A.
GenomeRNAi51168.
NextBio54107.
PROQ9UKN7.
SOURCESearch...

Entry information

Entry nameMYO15_HUMAN
AccessionPrimary (citable) accession number: Q9UKN7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 131 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

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 17

Human chromosome 17: entries, gene names and cross-references to MIM