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Q9UKN7

- MYO15_HUMAN

UniProt

Q9UKN7 - MYO15_HUMAN

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Protein

Unconventional myosin-XV

Gene

MYO15A

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

Functioni

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).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1315 – 13228ATPSequence Analysis

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. motor activity Source: InterPro

GO - Biological processi

  1. inner ear morphogenesis Source: Ensembl
  2. locomotory behavior Source: Ensembl
  3. sensory perception of sound Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Myosin

Keywords - Biological processi

Hearing

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Unconventional myosin-XV
Alternative name(s):
Unconventional myosin-15
Gene namesi
Name:MYO15A
Synonyms:MYO15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:7594. MYO15A.

Subcellular locationi

Cell projectionstereocilium By similarity. Cytoplasmcytoskeleton By similarity
Note: Localizes to stereocilium tips in cochlear and vestibular hair cells.By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. extracellular vesicular exosome Source: UniProt
  3. myosin complex Source: UniProtKB-KW
  4. stereocilium Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1806 – 18061L → P in DFNB3. 1 Publication
VAR_071648
Natural varianti2111 – 21111N → Y in DFNB3; family from Bengkala. 1 Publication
VAR_010303
Natural varianti2113 – 21131I → F in DFNB3; Indian family. 1 Publication
VAR_010304
Natural varianti2205 – 22051T → I Associated with moderately severe sensorineural hearing loss (DFNB3) in a Smith-Magenis syndrome patient. 1 Publication
Corresponds to variant rs121908970 [ dbSNP | Ensembl ].
VAR_037961
Natural varianti2716 – 27161Q → H in DFNB3. 1 Publication
VAR_037964

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MIMi600316. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA31395.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 35303530Unconventional myosin-XVPRO_0000123474Add
BLAST

Proteomic databases

MaxQBiQ9UKN7.
PaxDbiQ9UKN7.
PRIDEiQ9UKN7.

PTM databases

PhosphoSiteiQ9UKN7.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiQ9UKN7.
CleanExiHS_MYO15A.
ExpressionAtlasiQ9UKN7. baseline and differential.
GenevestigatoriQ9UKN7.

Organism-specific databases

HPAiHPA039770.

Interactioni

Subunit structurei

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.By similarity1 Publication

Protein-protein interaction databases

BioGridi119348. 4 interactions.
IntActiQ9UKN7. 4 interactions.
STRINGi9606.ENSP00000205890.

Structurei

3D structure databases

ProteinModelPortaliQ9UKN7.
SMRiQ9UKN7. Positions 1181-1898, 2044-2291, 2685-2956, 3065-3443.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1222 – 1899678Myosin motorAdd
BLAST
Domaini1902 – 192423IQ 1PROSITE-ProRule annotationAdd
BLAST
Domaini1925 – 195430IQ 2PROSITE-ProRule annotationAdd
BLAST
Domaini1955 – 197622IQ 3PROSITE-ProRule annotationAdd
BLAST
Domaini2065 – 2217153MyTH4 1PROSITE-ProRule annotationAdd
BLAST
Domaini2867 – 295387SH3Add
BLAST
Domaini3050 – 3204155MyTH4 2PROSITE-ProRule annotationAdd
BLAST
Domaini3209 – 3530322FERMPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1792 – 17998Actin-bindingSequence Analysis
Regioni1888 – 2029142Neck or regulatory domainAdd
BLAST
Regioni2030 – 35301501TailAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1323 – 135028Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation
Contains 3 IQ domains.PROSITE-ProRule annotation
Contains 1 myosin motor domain.Curated
Contains 2 MyTH4 domains.PROSITE-ProRule annotation
Contains 1 SH3 domain.Curated

Keywords - Domaini

Coiled coil, Repeat, SH3 domain

Phylogenomic databases

eggNOGiCOG5022.
GeneTreeiENSGT00760000118956.
HOGENOMiHOG000113705.
HOVERGENiHBG052554.
InParanoidiQ9UKN7.
KOiK10361.
OMAiPSQNMLE.
OrthoDBiEOG7XPZ4Q.
PhylomeDBiQ9UKN7.
TreeFamiTF316834.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR019749. 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]
PfamiPF00373. FERM_M. 1 hit.
PF00612. IQ. 1 hit.
PF00063. Myosin_head. 1 hit.
PF00784. MyTH4. 2 hits.
PF07653. SH3_2. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00295. B41. 1 hit.
SM00015. IQ. 3 hits.
SM00242. MYSc. 1 hit.
SM00139. MyTH4. 2 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50057. FERM_3. 1 hit.
PS50096. IQ. 3 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
PS51016. MYTH4. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UKN7-1) [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
MAKEEDEEKK AKKGKKGKKA PEPEKPKRSL KGTSRLFMGF RDRTPKISKK
60 70 80 90 100
GQFRSASAFF WGLHTGPQKT KRKRKARTVL KSTSKLMTQM RMGKKKRAMK
110 120 130 140 150
GKKPSFMVIR FPGRRGYGRL RPRARSLSKA STAINWLTKK FLLKKAEESG
160 170 180 190 200
SEQATVDAWL QRSSSRMGSR KLPFPSGAEI LRPGGRLRRF PRSRSIYASG
210 220 230 240 250
EPLGFLPFED EAPFHHSGSR KSLYGLEGFQ DLGEYYDYHR DGDDYYDRQS
260 270 280 290 300
LHRYEEQEPY LAGLGPYSPA WPPYGDHYYG YPPEDPYDYY HPDYYGGPFD
310 320 330 340 350
PGYTYGYGYD DYEPPYAPPS GYSSPYSYHD GYEGEAHPYG YYLDPYAPYD
360 370 380 390 400
APYPPYDLPY HTPYDVPYFD PYGVHYTVPY AEGVYGGGDE AIYPPEVPYF
410 420 430 440 450
YPEESASAFV YPWVPPPIPS PHNPYAHAMD DIAELEEPED AGVERQGTSF
460 470 480 490 500
RLPSAAFFEQ QGMDKPARSK LSLIRKFRLF PRPQVKLFGK EKLEVPLPPS
510 520 530 540 550
LDIPLPLGDA DEEEDEEELP PVSAVPYGHP FWGFLTPRQR NLQRALSAFG
560 570 580 590 600
AHRGLGFGPE FGRPVPRPAT SLARFLKKTL SEKKPIARLR GSQKARAGGP
610 620 630 640 650
AVREAAYKRF GYKLAGMDPE KPGTPIVLRR AQPRARSSND ARRPPAPQPA
660 670 680 690 700
PRTLSHWSAL LSPPVPPRPP SSGPPPAPPL SPALSGLPRP ASPYGSLRRH
710 720 730 740 750
PPPWAAPAHV PPAPQASWWA FVEPPAVSPE VPPDLLAFPG PRPSFRGSRR
760 770 780 790 800
RGAAFGFPGA SPRASRRRAW SPLASPQPSL RSSPGLGYCS PLAPPSPQLS
810 820 830 840 850
LRTGPFQPPF LPPARRPRSL QESPAPRRAA GRLGPPGSPL PGSPRPPSPP
860 870 880 890 900
LGLCHSPRRS SLNLPSRLPH TWRRLSEPPT RAVKPQVRLP FHRPPRAGAW
910 920 930 940 950
RAPLEHRESP REPEDSETPW TVPPLAPSWD VDMPPTQRPP SPWPGGAGSR
960 970 980 990 1000
RGFSRPPPVP ENPFLQLLGP VPSPTLQPED PAADMTRVFL GRHHEPGPGQ
1010 1020 1030 1040 1050
LTKSAGPTPE KPEEEATLGD PQLPAETKPP TPAPPKDVTP PKDITPPKDV
1060 1070 1080 1090 1100
LPEQKTLRPS LSYPLAACDQ TRATWPPWHR WGTLPQAAAP LAPIRAPEPL
1110 1120 1130 1140 1150
PKGGERRQAA PGRFAVVMPR VQKLSSFQRV GPATLKPQVQ PIQDPKPRAC
1160 1170 1180 1190 1200
SLRWSCLWLR ADAYGPWPRV HTHPQSCHLG PGAACLSLRG SWEEVGPPSW
1210 1220 1230 1240 1250
RNKMHSIRNL PSMRFREQHG EDGVEDMTQL EDLQETTVLS NLKIRFERNL
1260 1270 1280 1290 1300
IYTYIGSILV SVNPYQMFGI YGPEQVQQYN GRALGENPPH LFAVANLAFA
1310 1320 1330 1340 1350
KMLDAKQNQC IIISGESGSG KTEATKLILR YLAAMNQKRE VMQQIKILEA
1360 1370 1380 1390 1400
TPLLESFGNA KTVRNDNSSR FGKFVEIFLE GGVISGAITS QYLLEKSRIV
1410 1420 1430 1440 1450
FQAKNERNYH IFYELLAGLP AQLRQAFSLQ EAETYYYLNQ GGNCEIAGKS
1460 1470 1480 1490 1500
DADDFRRLLA AMEVLGFSSE DQDSIFRILA SILHLGNVYF EKYETDAQEV
1510 1520 1530 1540 1550
ASVVSAREIQ AVAELLQISP EGLQKAITFK VTETMREKIF TPLTVESAVD
1560 1570 1580 1590 1600
ARDAIAKVLY ALLFSWLITR VNALVSPRQD TLSIAILDIY GFEDLSFNSF
1610 1620 1630 1640 1650
EQLCINYANE NLQYLFNKIV FQEEQEEYIR EQIDWQEITF ADNQPCINLI
1660 1670 1680 1690 1700
SLKPYGILRI LDDQCCFPQA TDHTFLQKCH YHHGANPLYS KPKMPLPEFT
1710 1720 1730 1740 1750
IKHYAGKVTY QVHKFLDKNH DQVRQDVLDL FVRSRTRVVA HLFSSHAPQA
1760 1770 1780 1790 1800
APQRLGKSSS VTRLYKAHTV AAKFQQSLLD LVEKMERCNP LFMRCLKPNH
1810 1820 1830 1840 1850
KKEPGLFEPD VVMAQLRYSG VLETVRIRKE GFPVRLPFQG FIDRYCCLVA
1860 1870 1880 1890 1900
LKHDLPANGD MCVSVLSRLC KVMPNMYRVG VSKLFLKEHL YQLLESMREH
1910 1920 1930 1940 1950
VLNLAALTLQ RCLRGFFIKR RFRSLRHKII LLQSRARGYL ARQRYQQMRR
1960 1970 1980 1990 2000
SLVKFRSLVH AYVSRRRYLK LRAEWRCQVE GALLWEQEEL SKREVVAVGH
2010 2020 2030 2040 2050
LEVPAELAGL LQAVAGLGLA QVPQVAPVRT PRLQAEPRVT LPLDINNYPM
2060 2070 2080 2090 2100
AKFVQCHFKE PAFGMLTVPL RTPLTQLPAE HHAEAVSIFK LILRFMGDPH
2110 2120 2130 2140 2150
LHGARENIFG NYIVQKGLAV PELRDEILAQ LANQVWHNHN AHNAERGWLL
2160 2170 2180 2190 2200
LAACLSGFAP SPCFNKYLLK FVSDYGRNGF QAVCQHRLMQ AMGRAQQQGS
2210 2220 2230 2240 2250
GAARTLPPTQ LEWTATYEKA SMALDVGCFN GDQFSCPVHS WSTGEEVAGD
2260 2270 2280 2290 2300
ILRHRGLADG WRGWTVAMKN GVQWAELAGH DYVLDLVSDL ELLRDFPRQK
2310 2320 2330 2340 2350
SYFIVGTEGP AASRGGPKVV FGNSWDSDED MSTRPQPQEH MPKVLDSDGY
2360 2370 2380 2390 2400
SSHNQDGTNG ETEAQRGTAT HQESDSLGEP AVPHKGLDCY LDSLFDPVLS
2410 2420 2430 2440 2450
YGDADLEKPT AIAYRMKGGG QPGGGSSSGT EDTPRRPPEP KPIPGLDAST
2460 2470 2480 2490 2500
LALQQAFIHK QAVLLAREMT LQATALQQQP LSAALRSLPA EKPPAPEAQP
2510 2520 2530 2540 2550
TSVGTGPPAK PVLLRATPKP LAPAPLAKAP RLPIKPVAAP VLAQDQASPE
2560 2570 2580 2590 2600
TTSPSPELVR YSTLNSEHFP QPTQQIKNIV RQYQQPFRGG RPEALRKDGG
2610 2620 2630 2640 2650
KVFMKRPDPH EEALMILKGQ MTHLAAAPGT QVSREAVALV KPVTSAPRPS
2660 2670 2680 2690 2700
MAPTSALPSR SLEPPEELTQ TRLHRLINPN FYGYQDAPWK IFLRKEVFYP
2710 2720 2730 2740 2750
KDSYSHPVQL DLLFRQILHD TLSEACLRIS EDERLRMKAL FAQNQLDTQK
2760 2770 2780 2790 2800
PLVTESVKRA VVSTARDTWE VYFSRIFPAT GSVGTGVQLL AVSHVGIKLL
2810 2820 2830 2840 2850
RMVKGGQEAG GQLRVLRAYS FADILFVTMP SQNMLEFNLA SEKVILFSAR
2860 2870 2880 2890 2900
AHQVKTLVDD FILELKKDSD YVVAVRNFLP EDPALLAFHK GDIIHLQPLE
2910 2920 2930 2940 2950
PPRVGYSAGC VVRRKVVYLE ELRRRGPDFG WRFGTIHGRV GRFPSELVQP
2960 2970 2980 2990 3000
AAAPDFLQLP TEPGRGRAAA VAAAVASAAA AQEVGRRREG PPVRARSADH
3010 3020 3030 3040 3050
GEDALALPPY TMLEFAQKYF RDPQRRPQDG LRLKSKEPRE SRTLEDMLCF
3060 3070 3080 3090 3100
TKTPLQESLI ELSDSSLSKM ATDMFLAVMR FMGDAPLKGQ SDLDVLCNLL
3110 3120 3130 3140 3150
KLCGDHEVMR DECYCQVVKQ ITDNTSSKQD SCQRGWRLLY IVTAYHSCSE
3160 3170 3180 3190 3200
VLHPHLTRFL QDVSRTPGLP FQGIAKACEQ NLQKTLRFGG RLELPSSIEL
3210 3220 3230 3240 3250
RAMLAGRSSK RQLFLLPGGL ERHLKIKTCT VALDVVEEIC AEMALTRPEA
3260 3270 3280 3290 3300
FNEYVIFVVT NRGQHVCPLS RRAYILDVAS EMEQVDGGYM LWFRRVLWDQ
3310 3320 3330 3340 3350
PLKFENELYV TMHYNQVLPD YLKGLFSSVP ASRPSEQLLQ QVSKLASLQH
3360 3370 3380 3390 3400
RAKDHFYLPS VREVQEYIPA QLYRTTAGST WLNLVSQHRQ QTQALSPHQA
3410 3420 3430 3440 3450
RAQFLGLLSA LPMFGSSFFF IQSCSNIAVP APCILAINHN GLNFLSTETH
3460 3470 3480 3490 3500
ELMVKFPLKE IQSTRTQRPT ANSSYPYVEI ALGDVAAQRT LQLQLEQGLE
3510 3520 3530
LCRVVAVHVE NLLSAHEKRL TLPPSEITLL
Length:3,530
Mass (Da):395,293
Last modified:May 18, 2010 - v2
Checksum:iDCCFBAD37BEA6309
GO
Isoform 2 (identifier: Q9UKN7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2736: Missing.
     3498-3530: GLELCRVVAVHVENLLSAHEKRLTLPPSEITLL → VRAGEVLDGRGLSLSPAGTGTVSCGGRARGEPAQCP

Note: No experimental confirmation available.

Show »
Length:797
Mass (Da):88,988
Checksum:i4B5A442322774C73
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti595 – 5951A → T in AAF05903. (PubMed:10552926)Curated
Sequence conflicti595 – 5951A → T in AF051976. (PubMed:10552926)Curated
Sequence conflicti718 – 7181W → G in AAF05903. (PubMed:10552926)Curated
Sequence conflicti718 – 7181W → G in AF051976. (PubMed:10552926)Curated
Sequence conflicti1646 – 16461C → R in AAF05903. (PubMed:10552926)Curated
Sequence conflicti2468 – 24681E → G in AAF05903. (PubMed:10552926)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1806 – 18061L → P in DFNB3. 1 Publication
VAR_071648
Natural varianti1977 – 19771C → R.
Corresponds to variant rs854777 [ dbSNP | Ensembl ].
VAR_037959
Natural varianti2018 – 20181G → R.
Corresponds to variant rs2272571 [ dbSNP | Ensembl ].
VAR_037960
Natural varianti2111 – 21111N → Y in DFNB3; family from Bengkala. 1 Publication
VAR_010303
Natural varianti2113 – 21131I → F in DFNB3; Indian family. 1 Publication
VAR_010304
Natural varianti2205 – 22051T → I Associated with moderately severe sensorineural hearing loss (DFNB3) in a Smith-Magenis syndrome patient. 1 Publication
Corresponds to variant rs121908970 [ dbSNP | Ensembl ].
VAR_037961
Natural varianti2490 – 24901A → T.
Corresponds to variant rs16960959 [ dbSNP | Ensembl ].
VAR_037962
Natural varianti2682 – 26821Y → F.
Corresponds to variant rs712270 [ dbSNP | Ensembl ].
VAR_037963
Natural varianti2716 – 27161Q → H in DFNB3. 1 Publication
VAR_037964

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 27362736Missing in isoform 2. 1 PublicationVSP_056655Add
BLAST
Alternative sequencei3498 – 353033GLELC…EITLL → VRAGEVLDGRGLSLSPAGTG TVSCGGRARGEPAQCP in isoform 2. 1 PublicationVSP_056656Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF051976 Genomic DNA. No translation available.
AF144094 mRNA. Translation: AAF05903.1.
AK294036 mRNA. Translation: BAG57388.1.
AC087164 Genomic DNA. No translation available.
CCDSiCCDS42271.1. [Q9UKN7-1]
PIRiA59266.
RefSeqiNP_057323.3. NM_016239.3. [Q9UKN7-1]
UniGeneiHs.462390.

Genome annotation databases

EnsembliENST00000205890; ENSP00000205890; ENSG00000091536. [Q9UKN7-1]
ENST00000418233; ENSP00000408800; ENSG00000091536. [Q9UKN7-2]
GeneIDi51168.
KEGGihsa:51168.
UCSCiuc021trl.1. human. [Q9UKN7-1]

Polymorphism databases

DMDMi296439233.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF051976 Genomic DNA. No translation available.
AF144094 mRNA. Translation: AAF05903.1 .
AK294036 mRNA. Translation: BAG57388.1 .
AC087164 Genomic DNA. No translation available.
CCDSi CCDS42271.1. [Q9UKN7-1 ]
PIRi A59266.
RefSeqi NP_057323.3. NM_016239.3. [Q9UKN7-1 ]
UniGenei Hs.462390.

3D structure databases

ProteinModelPortali Q9UKN7.
SMRi Q9UKN7. Positions 1181-1898, 2044-2291, 2685-2956, 3065-3443.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119348. 4 interactions.
IntActi Q9UKN7. 4 interactions.
STRINGi 9606.ENSP00000205890.

PTM databases

PhosphoSitei Q9UKN7.

Polymorphism databases

DMDMi 296439233.

Proteomic databases

MaxQBi Q9UKN7.
PaxDbi Q9UKN7.
PRIDEi Q9UKN7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000205890 ; ENSP00000205890 ; ENSG00000091536 . [Q9UKN7-1 ]
ENST00000418233 ; ENSP00000408800 ; ENSG00000091536 . [Q9UKN7-2 ]
GeneIDi 51168.
KEGGi hsa:51168.
UCSCi uc021trl.1. human. [Q9UKN7-1 ]

Organism-specific databases

CTDi 51168.
GeneCardsi GC17P018012.
GeneReviewsi MYO15A.
H-InvDB HIX0013595.
HGNCi HGNC:7594. MYO15A.
HPAi HPA039770.
MIMi 600316. phenotype.
602666. gene.
neXtProti NX_Q9UKN7.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBi PA31395.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5022.
GeneTreei ENSGT00760000118956.
HOGENOMi HOG000113705.
HOVERGENi HBG052554.
InParanoidi Q9UKN7.
KOi K10361.
OMAi PSQNMLE.
OrthoDBi EOG7XPZ4Q.
PhylomeDBi Q9UKN7.
TreeFami TF316834.

Miscellaneous databases

ChiTaRSi MYO15A. human.
GeneWikii MYO15A.
GenomeRNAii 51168.
NextBioi 35471458.
PROi Q9UKN7.
SOURCEi Search...

Gene expression databases

Bgeei Q9UKN7.
CleanExi HS_MYO15A.
ExpressionAtlasi Q9UKN7. baseline and differential.
Genevestigatori Q9UKN7.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR019749. 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 ]
Pfami 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 ]
PRINTSi PR00193. MYOSINHEAVY.
SMARTi SM00295. B41. 1 hit.
SM00015. IQ. 3 hits.
SM00242. MYSc. 1 hit.
SM00139. MyTH4. 2 hits.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF47031. SSF47031. 1 hit.
SSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEi PS50057. FERM_3. 1 hit.
PS50096. IQ. 3 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
PS51016. MYTH4. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1), TISSUE SPECIFICITY.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Cerebellum.
  4. "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].
  5. "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.
  6. "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.
  7. Cited for: INVOLVEMENT IN DFNB3, VARIANT DFNB3 PRO-1806.

Entry informationi

Entry nameiMYO15_HUMAN
AccessioniPrimary (citable) accession number: Q9UKN7
Secondary accession number(s): B4DFC7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 18, 2010
Last modified: November 26, 2014
This is version 137 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 17
    Human chromosome 17: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3