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Q13402

- MYO7A_HUMAN

UniProt

Q13402 - MYO7A_HUMAN

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Protein

Unconventional myosin-VIIa

Gene

MYO7A

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 bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity By similarity. Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.By similarity4 Publications

Enzyme regulationi

ATP hydrolysis is inhibited by Mg2+, already at a concentration of 0.4 mM.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi158 – 1658ATPCurated

GO - Molecular functioni

  1. actin-dependent ATPase activity Source: Ensembl
  2. actin filament binding Source: UniProtKB
  3. ADP binding Source: Ensembl
  4. ATP binding Source: UniProtKB-KW
  5. calmodulin binding Source: UniProtKB
  6. microfilament motor activity Source: UniProtKB
  7. spectrin binding Source: MGI

GO - Biological processi

  1. actin filament-based movement Source: UniProtKB
  2. auditory receptor cell stereocilium organization Source: Ensembl
  3. equilibrioception Source: HGNC
  4. eye photoreceptor cell development Source: UniProtKB
  5. intracellular protein transport Source: Ensembl
  6. lysosome organization Source: UniProtKB
  7. metabolic process Source: GOC
  8. phagolysosome assembly Source: Ensembl
  9. pigment granule transport Source: Ensembl
  10. post-embryonic organ morphogenesis Source: Ensembl
  11. sensory perception of light stimulus Source: HGNC
  12. sensory perception of sound Source: UniProtKB
  13. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Myosin

Keywords - Biological processi

Hearing

Keywords - Ligandi

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

Enzyme and pathway databases

ReactomeiREACT_160156. The canonical retinoid cycle in rods (twilight vision).

Names & Taxonomyi

Protein namesi
Recommended name:
Unconventional myosin-VIIa
Gene namesi
Name:MYO7A
Synonyms:USH1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:7606. MYO7A.

Subcellular locationi

Cytoplasm. Cytoplasmcell cortex. Cytoplasmcytoskeleton
Note: In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region. Colocalizes with a subset of melanosomes in retinal pigment epithelium cells. Detected at the tip of cochlear hair cell stereocilia. The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin.

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. cytoplasm Source: MGI
  3. cytosol Source: UniProtKB
  4. lysosomal membrane Source: UniProtKB
  5. melanosome Source: Ensembl
  6. myosin VII complex Source: Ensembl
  7. photoreceptor connecting cilium Source: Ensembl
  8. photoreceptor inner segment Source: UniProtKB
  9. photoreceptor outer segment Source: UniProtKB
  10. stereocilium Source: Ensembl
  11. synapse Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 1B (USH1B) [MIM:276900]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.14 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161L → S in USH1B; heterozygosity approaching 50%. 1 Publication
Corresponds to variant rs1052030 [ dbSNP | Ensembl ].
VAR_009315
Natural varianti25 – 251G → R in USH1B. 2 Publications
VAR_009316
Natural varianti26 – 261A → E in USH1B. 1 Publication
VAR_024039
Natural varianti67 – 671V → M in USH1B. 1 Publication
VAR_024040
Natural varianti90 – 901R → P in USH1B. 1 Publication
VAR_024041
Natural varianti133 – 1331H → D in USH1B; the deleterious effect remains to be proven. 1 Publication
VAR_027301
Natural varianti134 – 1341I → N in USH1B. 1 Publication
VAR_024042
Natural varianti163 – 1631G → R in USH1B. 1 Publication
VAR_027302
Natural varianti164 – 1641K → R in USH1B. 1 Publication
VAR_027303
Natural varianti165 – 1651T → M in USH1B. 3 Publications
VAR_024043
Natural varianti198 – 1981A → T in USH1B; is predicted to alter the normal splicing of exon 6. 1 Publication
VAR_027304
Natural varianti204 – 2041T → A in USH1B. 1 Publication
VAR_027305
Natural varianti212 – 2121R → C in USH1B; frequent mutation. 1 Publication
VAR_009318
Natural varianti212 – 2121R → H in USH1B; frequent mutation. 1 Publication
Corresponds to variant rs28934610 [ dbSNP | Ensembl ].
VAR_009319
Natural varianti214 – 2141G → R in USH1B. 1 Publication
VAR_009320
Natural varianti218 – 2192Missing in USH1B.
VAR_009321
Natural varianti241 – 2411R → C in USH1B. 1 Publication
VAR_024044
Natural varianti241 – 2411R → S in USH1B.
VAR_009322
Natural varianti269 – 2691Missing in USH1B. 1 Publication
VAR_024045
Natural varianti302 – 3021R → H in USH1B; uncertain pathological significance. 1 Publication
Corresponds to variant rs41298135 [ dbSNP | Ensembl ].
VAR_009324
Natural varianti397 – 3971A → D in USH1B. 2 Publications
VAR_009325
Natural varianti450 – 4501E → Q in USH1B. 1 Publication
VAR_009326
Natural varianti457 – 4571A → V in USH1B. 1 Publication
VAR_024046
Natural varianti468 – 4681H → HQ in USH1B. 1 Publication
VAR_009327
Natural varianti503 – 5031P → L in USH1B. 1 Publication
VAR_009328
Natural varianti519 – 5191G → D in USH1B; the deleterious effect remains to be proven. 2 Publications
VAR_024047
Natural varianti651 – 6511L → P in USH1B; atypical. 1 Publication
VAR_009331
Natural varianti756 – 7561R → W in USH1B. 1 Publication
VAR_024048
Natural varianti826 – 8261A → T in USH1B. 1 Publication
VAR_009332
Natural varianti946 – 9461M → R in USH1B. 1 Publication
VAR_071646
Natural varianti955 – 9551G → S in USH1B. 1 Publication
VAR_009334
Natural varianti968 – 9681E → D in USH1B. 2 Publications
VAR_024049
Natural varianti1087 – 10871L → P in USH1B. 1 Publication
VAR_009335
Natural varianti1170 – 11701E → K in USH1B. 3 Publications
VAR_009336
Natural varianti1240 – 12401R → Q in USH1B. 2 Publications
VAR_009337
Natural varianti1248 – 12481E → K in USH1B. 1 Publication
VAR_071647
Natural varianti1288 – 12881A → P in USH1B. 1 Publication
VAR_009338
Natural varianti1327 – 13271E → K in USH1B. 1 Publication
VAR_027309
Natural varianti1343 – 13431R → S in USH1B.
VAR_009339
Natural varianti1346 – 13461Missing in USH1B. 1 Publication
VAR_024050
Natural varianti1347 – 13515Missing in USH1B. 1 Publication
VAR_027310
Natural varianti1566 – 15661T → M in USH1B; unknown pathological significance. 2 Publications
Corresponds to variant rs41298747 [ dbSNP | Ensembl ].
VAR_027311
Natural varianti1602 – 16021R → Q in USH1B; atypical. 1 Publication
Corresponds to variant rs139889944 [ dbSNP | Ensembl ].
VAR_009340
Natural varianti1628 – 16281A → S in USH1B.
VAR_009341
Natural varianti1719 – 17191Y → C in USH1B; unknown pathological significance. 3 Publications
Corresponds to variant rs77625410 [ dbSNP | Ensembl ].
VAR_009344
Natural varianti1743 – 17431R → W in USH1B. 1 Publication
VAR_024051
Natural varianti1858 – 18581L → P in USH1B. 2 Publications
VAR_024052
Natural varianti1873 – 18731R → W in USH1B. 1 Publication
VAR_027314
Natural varianti1883 – 18831R → Q in USH1B. 1 Publication
VAR_024053
Natural varianti1887 – 18871P → L in USH1B. 1 Publication
VAR_024054
Natural varianti1962 – 19621Missing in USH1B. 1 Publication
VAR_027315
Natural varianti2137 – 21371G → E in USH1B. 1 Publication
VAR_009347
Natural varianti2163 – 21631G → S in USH1B.
VAR_009348
Natural varianti2187 – 21871G → D in USH1B. 1 Publication
VAR_024055
Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]: 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti244 – 2441R → P in DFNB2. 1 Publication
VAR_009323
Natural varianti599 – 5991M → I in DFNB2. 1 Publication
VAR_009330
Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]: 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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti458 – 4581N → I in DFNA11. 1 Publication
Corresponds to variant rs28934903 [ dbSNP | Ensembl ].
VAR_027306
Natural varianti722 – 7221G → R in DFNA11. 1 Publication
VAR_027307
Natural varianti853 – 8531R → C in DFNA11; disturb calmodulin/MYO7A binding; may result in impaired adaptation to environmental stimuli and progressive deterioration of hearing transduction in heterozygotes. 1 Publication
VAR_027308
Natural varianti886 – 8883Missing in DFNA11. 1 Publication
VAR_009333
Defects in MYO7A may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Keywords - Diseasei

Deafness, Disease mutation, Leber congenital amaurosis, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

MIMi276900. phenotype.
600060. phenotype.
601317. phenotype.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
231178. Usher syndrome type 2.
PharmGKBiPA31411.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 22152215Unconventional myosin-VIIaPRO_0000123466Add
BLAST

Proteomic databases

MaxQBiQ13402.
PaxDbiQ13402.
PRIDEiQ13402.

PTM databases

PhosphoSiteiQ13402.

Expressioni

Tissue specificityi

Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.3 Publications

Developmental stagei

Detected in optic cup in 5.5 weeks-old embryos. Expressed in retinal pigment epithelium, cochlear and vestibular neuroepithelia, and olfactory epithelium at 8 weeks. At 19 weeks, present in both pigment epithelium and photoreceptor cells. At 24-28 weeks, expression in pigment epithelium and photoreceptor cells increases. Present in pigment epithelium and photoreceptor cells in adult.2 Publications

Gene expression databases

BgeeiQ13402.
CleanExiHS_MYO7A.
ExpressionAtlasiQ13402. baseline and differential.
GenevestigatoriQ13402.

Organism-specific databases

HPAiCAB034059.
HPA028918.

Interactioni

Subunit structurei

Interacts with PLEKHB1 (via PH domain). Interacts with PCDH15. Interacts with RPE65. Interacts with TWF2 By similarity. Might homodimerize in a two headed molecule through the formation of a coiled-coil rod. May interact with CALM. Binds MYRIP and WHRN. Identified in a complex with USH1C and USH1G.By similarity4 Publications

Protein-protein interaction databases

BioGridi110731. 13 interactions.
IntActiQ13402. 1 interaction.
MINTiMINT-1895479.
STRINGi9606.ENSP00000386331.

Structurei

3D structure databases

ProteinModelPortaliQ13402.
SMRiQ13402. Positions 1-935, 993-1686, 1712-2202.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 741677Myosin motorAdd
BLAST
Domaini745 – 76521IQ 1PROSITE-ProRule annotationAdd
BLAST
Domaini768 – 78821IQ 2PROSITE-ProRule annotationAdd
BLAST
Domaini791 – 81121IQ 3PROSITE-ProRule annotationAdd
BLAST
Domaini814 – 83421IQ 4PROSITE-ProRule annotationAdd
BLAST
Domaini837 – 85721IQ 5PROSITE-ProRule annotationAdd
BLAST
Domaini1017 – 1253237MyTH4 1PROSITE-ProRule annotationAdd
BLAST
Domaini1258 – 1602345FERM 1PROSITE-ProRule annotationAdd
BLAST
Domaini1603 – 167270SH3PROSITE-ProRule annotationAdd
BLAST
Domaini1747 – 1896150MyTH4 2PROSITE-ProRule annotationAdd
BLAST
Domaini1902 – 2205304FERM 2PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni632 – 6398Actin-bindingCurated

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili858 – 93578Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 2 FERM domains.PROSITE-ProRule annotation
Contains 5 IQ domains.PROSITE-ProRule annotation
Contains 1 myosin motor domain.Curated
Contains 2 MyTH4 domains.PROSITE-ProRule annotation
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, SH3 domain

Phylogenomic databases

eggNOGiCOG5022.
GeneTreeiENSGT00760000119009.
HOGENOMiHOG000007836.
HOVERGENiHBG052557.
InParanoidiQ13402.
KOiK10359.
OMAiVAHINSA.
OrthoDBiEOG7QG433.
PhylomeDBiQ13402.
TreeFamiTF335306.

Family and domain databases

Gene3Di1.20.80.10. 2 hits.
2.30.29.30. 1 hit.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR000857. MyTH4_dom.
IPR027417. P-loop_NTPase.
IPR011993. PH_like_dom.
IPR001452. SH3_domain.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
PF00612. IQ. 3 hits.
PF00063. Myosin_head. 1 hit.
PF00784. MyTH4. 2 hits.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00295. B41. 2 hits.
SM00015. IQ. 4 hits.
SM00242. MYSc. 1 hit.
SM00139. MyTH4. 2 hits.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 2 hits.
SSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 2 hits.
SSF54236. SSF54236. 2 hits.
PROSITEiPS50057. FERM_3. 2 hits.
PS50096. IQ. 3 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
PS51016. MYTH4. 2 hits.
PS50002. SH3. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q13402-1) [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
MVILQQGDHV WMDLRLGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP
60 70 80 90 100
QNATHIKPMH PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS
110 120 130 140 150
ILVAVNPYQL LSIYSPEHIR QYTNKKIGEM PPHIFAIADN CYFNMKRNSR
160 170 180 190 200
DQCCIISGES GAGKTESTKL ILQFLAAISG QHSWIEQQVL EATPILEAFG
210 220 230 240 250
NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS RVCRQALDER
260 270 280 290 300
NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN
310 320 330 340 350
IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP
360 370 380 390 400
SLATAASLLE VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK
410 420 430 440 450
GIYGRLFVWI VDKINAAIYK PPSQDVKNSR RSIGLLDIFG FENFAVNSFE
460 470 480 490 500
QLCINFANEH LQQFFVRHVF KLEQEEYDLE SIDWLHIEFT DNQDALDMIA
510 520 530 540 550
NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP PKNNHETQFG
560 570 580 590 600
INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG
610 620 630 640 650
AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH
660 670 680 690 700
LCVRQLRYSG MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD
710 720 730 740 750
LRGTCQRMAE AVLGTHDDWQ IGKTKIFLKD HHDMLLEVER DKAITDRVIL
760 770 780 790 800
LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG HNCRKNYGLM RLGFLRLQAL
810 820 830 840 850
HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV LTVQAYARGM
860 870 880 890 900
IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER
910 920 930 940 950
LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL
960 970 980 990 1000
GTSGGLPGQE GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK
1010 1020 1030 1040 1050
FAKFAATYFQ GTTTHSYTRR PLKQPLLYHD DEGDQLAALA VWITILRFMG
1060 1070 1080 1090 1100
DLPEPKYHTA MSDGSEKIPV MTKIYETLGK KTYKRELQAL QGEGEAQLPE
1110 1120 1130 1140 1150
GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN SMLEDRPTSN
1160 1170 1180 1190 1200
LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG
1210 1220 1230 1240 1250
CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ
1260 1270 1280 1290 1300
ATKSKKPIML PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS
1310 1320 1330 1340 1350
LYIALFDKVS SLGSGSDHVM DAISQCEQYA KEQGAQERNA PWRLFFRKEV
1360 1370 1380 1390 1400
FTPWHSPSED NVATNLIYQQ VVRGVKFGEY RCEKEDDLAE LASQQYFVDY
1410 1420 1430 1440 1450
GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK KGIYAQRRTD
1460 1470 1480 1490 1500
AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF
1510 1520 1530 1540 1550
VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP
1560 1570 1580 1590 1600
AGPCSPCWSC RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG
1610 1620 1630 1640 1650
LRKRSKYVVA LQDNPNPAGE ESGFLSFAKG DLIILDHDTG EQVMNSGWAN
1660 1670 1680 1690 1700
GINERTKQRG DFPTDSVYVM PTVTMPPREI VALVTMTPDQ RQDVVRLLQL
1710 1720 1730 1740 1750
RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG KDRLWSHTRE
1760 1770 1780 1790 1800
PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF
1810 1820 1830 1840 1850
EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL
1860 1870 1880 1890 1900
LPHVQRFLQS RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT
1910 1920 1930 1940 1950
QIFHKVYFPD DTDEAFEVES STKAKDFCQN IATRLLLKSS EGFSLFVKIA
1960 1970 1980 1990 2000
DKVLSVPEND FFFDFVRHLT DWIKKARPIK DGIVPSLTYQ VFFMKKLWTT
2010 2020 2030 2040 2050
TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL IYRVKFEEDK
2060 2070 2080 2090 2100
SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF
2110 2120 2130 2140 2150
LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT
2160 2170 2180 2190 2200
THPFTKISNW SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ
2210
MLTAMSKQRG SRSGK
Length:2,215
Mass (Da):254,390
Last modified:March 6, 2013 - v2
Checksum:i9F921DB43FD9BE1E
GO
Isoform 2 (identifier: Q13402-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1524-1561: Missing.
     2117-2118: Missing.

Show »
Length:2,175
Mass (Da):250,245
Checksum:iFEEADA62DAE9229D
GO
Isoform 3 (identifier: Q13402-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1169-1200: DEIYCQISKQLTHNPSKSSYARGWILVSLCVG → SVPESLLVAEWCLCQPSKRLSQAWPGFGFAAS
     1201-2215: Missing.

Show »
Length:1,200
Mass (Da):138,349
Checksum:i6F3F743A0E78295D
GO
Isoform 4 (identifier: Q13402-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1095-1095: E → EVLQ
     1169-1200: DEIYCQISKQLTHNPSKSSYARGWILVSLCVG → SVPESLLVAEWCLCQPSKRLSQAWPGFGFAAS
     1201-2215: Missing.

Show »
Length:1,203
Mass (Da):138,689
Checksum:i6E42F0F5BAE382E6
GO
Isoform 5 (identifier: Q13402-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     284-360: Missing.
     519-564: Missing.

Show »
Length:2,092
Mass (Da):240,641
Checksum:iF846661CE342453B
GO
Isoform 6 (identifier: Q13402-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1096-1125: Missing.

Show »
Length:2,185
Mass (Da):250,966
Checksum:iD5D90A29BACA8CAD
GO
Isoform 7 (identifier: Q13402-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1433-1470: Missing.

Show »
Length:2,177
Mass (Da):249,961
Checksum:i08B2E4E410321CAB
GO
Isoform 8 (identifier: Q13402-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.
     1524-1561: Missing.

Show »
Length:2,166
Mass (Da):249,165
Checksum:i7492760882361743
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti172 – 1721L → P in AAA20909. (PubMed:8022818)Curated
Sequence conflicti470 – 4701F → L in AAC50927. (PubMed:8884267)Curated
Sequence conflicti470 – 4701F → L in AAC50722. (PubMed:8884267)Curated
Sequence conflicti576 – 5761D → N in AAC51150. (PubMed:9070921)Curated
Sequence conflicti794 – 7941F → S in AAC50927. (PubMed:8884267)Curated
Sequence conflicti794 – 7941F → S in AAC50722. (PubMed:8884267)Curated
Sequence conflicti794 – 7941F → S in AAC50218. (PubMed:7568224)Curated
Sequence conflicti873 – 8731R → Q in AAC50927. (PubMed:8884267)Curated
Sequence conflicti873 – 8731R → Q in AAC50722. (PubMed:8884267)Curated
Sequence conflicti873 – 8731R → Q in AAC50218. (PubMed:7568224)Curated
Sequence conflicti1073 – 10753KIY → RNS in AAC50218. (PubMed:7568224)Curated
Sequence conflicti1237 – 12371N → S in AAC50927. (PubMed:8884267)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161L → S in USH1B; heterozygosity approaching 50%. 1 Publication
Corresponds to variant rs1052030 [ dbSNP | Ensembl ].
VAR_009315
Natural varianti25 – 251G → R in USH1B. 2 Publications
VAR_009316
Natural varianti26 – 261A → E in USH1B. 1 Publication
VAR_024039
Natural varianti67 – 671V → M in USH1B. 1 Publication
VAR_024040
Natural varianti90 – 901R → P in USH1B. 1 Publication
VAR_024041
Natural varianti133 – 1331H → D in USH1B; the deleterious effect remains to be proven. 1 Publication
VAR_027301
Natural varianti134 – 1341I → N in USH1B. 1 Publication
VAR_024042
Natural varianti163 – 1631G → R in USH1B. 1 Publication
VAR_027302
Natural varianti164 – 1641K → R in USH1B. 1 Publication
VAR_027303
Natural varianti165 – 1651T → M in USH1B. 3 Publications
VAR_024043
Natural varianti193 – 1931T → I in LCA. 1 Publication
VAR_066861
Natural varianti198 – 1981A → T in USH1B; is predicted to alter the normal splicing of exon 6. 1 Publication
VAR_027304
Natural varianti204 – 2041T → A in USH1B. 1 Publication
VAR_027305
Natural varianti205 – 2051I → V.
VAR_009317
Natural varianti212 – 2121R → C in USH1B; frequent mutation. 1 Publication
VAR_009318
Natural varianti212 – 2121R → H in USH1B; frequent mutation. 1 Publication
Corresponds to variant rs28934610 [ dbSNP | Ensembl ].
VAR_009319
Natural varianti214 – 2141G → R in USH1B. 1 Publication
VAR_009320
Natural varianti218 – 2192Missing in USH1B.
VAR_009321
Natural varianti241 – 2411R → C in USH1B. 1 Publication
VAR_024044
Natural varianti241 – 2411R → S in USH1B.
VAR_009322
Natural varianti244 – 2441R → P in DFNB2. 1 Publication
VAR_009323
Natural varianti269 – 2691Missing in USH1B. 1 Publication
VAR_024045
Natural varianti302 – 3021R → H in USH1B; uncertain pathological significance. 1 Publication
Corresponds to variant rs41298135 [ dbSNP | Ensembl ].
VAR_009324
Natural varianti397 – 3971A → D in USH1B. 2 Publications
VAR_009325
Natural varianti450 – 4501E → Q in USH1B. 1 Publication
VAR_009326
Natural varianti457 – 4571A → V in USH1B. 1 Publication
VAR_024046
Natural varianti458 – 4581N → I in DFNA11. 1 Publication
Corresponds to variant rs28934903 [ dbSNP | Ensembl ].
VAR_027306
Natural varianti468 – 4681H → HQ in USH1B. 1 Publication
VAR_009327
Natural varianti503 – 5031P → L in USH1B. 1 Publication
VAR_009328
Natural varianti519 – 5191G → D in USH1B; the deleterious effect remains to be proven. 2 Publications
VAR_024047
Natural varianti597 – 5971V → I Rare polymorphism.
VAR_009329
Natural varianti599 – 5991M → I in DFNB2. 1 Publication
VAR_009330
Natural varianti602 – 6021E → K.
Corresponds to variant rs2276282 [ dbSNP | Ensembl ].
VAR_056187
Natural varianti651 – 6511L → P in USH1B; atypical. 1 Publication
VAR_009331
Natural varianti679 – 6791V → I.
Corresponds to variant rs35641839 [ dbSNP | Ensembl ].
VAR_056188
Natural varianti722 – 7221G → R in DFNA11. 1 Publication
VAR_027307
Natural varianti756 – 7561R → W in USH1B. 1 Publication
VAR_024048
Natural varianti826 – 8261A → T in USH1B. 1 Publication
VAR_009332
Natural varianti853 – 8531R → C in DFNA11; disturb calmodulin/MYO7A binding; may result in impaired adaptation to environmental stimuli and progressive deterioration of hearing transduction in heterozygotes. 1 Publication
VAR_027308
Natural varianti886 – 8883Missing in DFNA11. 1 Publication
VAR_009333
Natural varianti946 – 9461M → R in USH1B. 1 Publication
VAR_071646
Natural varianti955 – 9551G → S in USH1B. 1 Publication
VAR_009334
Natural varianti968 – 9681E → D in USH1B. 2 Publications
VAR_024049
Natural varianti1087 – 10871L → P in USH1B. 1 Publication
VAR_009335
Natural varianti1170 – 11701E → K in USH1B. 3 Publications
VAR_009336
Natural varianti1240 – 12401R → Q in USH1B. 2 Publications
VAR_009337
Natural varianti1248 – 12481E → K in USH1B. 1 Publication
VAR_071647
Natural varianti1288 – 12881A → P in USH1B. 1 Publication
VAR_009338
Natural varianti1327 – 13271E → K in USH1B. 1 Publication
VAR_027309
Natural varianti1343 – 13431R → S in USH1B.
VAR_009339
Natural varianti1346 – 13461Missing in USH1B. 1 Publication
VAR_024050
Natural varianti1347 – 13515Missing in USH1B. 1 Publication
VAR_027310
Natural varianti1566 – 15661T → M in USH1B; unknown pathological significance. 2 Publications
Corresponds to variant rs41298747 [ dbSNP | Ensembl ].
VAR_027311
Natural varianti1602 – 16021R → Q in USH1B; atypical. 1 Publication
Corresponds to variant rs139889944 [ dbSNP | Ensembl ].
VAR_009340
Natural varianti1628 – 16281A → S in USH1B.
VAR_009341
Natural varianti1666 – 16661S → C.2 Publications
Corresponds to variant rs2276288 [ dbSNP | Ensembl ].
VAR_009343
Natural varianti1666 – 16661S → G.
VAR_027312
Natural varianti1719 – 17191Y → C in USH1B; unknown pathological significance. 3 Publications
Corresponds to variant rs77625410 [ dbSNP | Ensembl ].
VAR_009344
Natural varianti1740 – 17401G → S.
Corresponds to variant rs12275336 [ dbSNP | Ensembl ].
VAR_027313
Natural varianti1743 – 17431R → W in USH1B. 1 Publication
VAR_024051
Natural varianti1858 – 18581L → P in USH1B. 2 Publications
VAR_024052
Natural varianti1873 – 18731R → W in USH1B. 1 Publication
VAR_027314
Natural varianti1883 – 18831R → Q in USH1B. 1 Publication
VAR_024053
Natural varianti1887 – 18871P → L in USH1B. 1 Publication
VAR_024054
Natural varianti1954 – 19541L → I.2 Publications
Corresponds to variant rs948962 [ dbSNP | Ensembl ].
VAR_009345
Natural varianti1962 – 19621Missing in USH1B. 1 Publication
VAR_027315
Natural varianti1992 – 19921F → I.
VAR_009346
Natural varianti2137 – 21371G → E in USH1B. 1 Publication
VAR_009347
Natural varianti2142 – 21421D → N.
Corresponds to variant rs1132036 [ dbSNP | Ensembl ].
VAR_027316
Natural varianti2163 – 21631G → S in USH1B.
VAR_009348
Natural varianti2187 – 21871G → D in USH1B. 1 Publication
VAR_024055

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1111Missing in isoform 8. 1 PublicationVSP_053793Add
BLAST
Alternative sequencei284 – 36077Missing in isoform 5. 1 PublicationVSP_003353Add
BLAST
Alternative sequencei519 – 56446Missing in isoform 5. 1 PublicationVSP_003354Add
BLAST
Alternative sequencei1095 – 10951E → EVLQ in isoform 4. 1 PublicationVSP_003355
Alternative sequencei1096 – 112530Missing in isoform 6. 1 PublicationVSP_003358Add
BLAST
Alternative sequencei1169 – 120032DEIYC…SLCVG → SVPESLLVAEWCLCQPSKRL SQAWPGFGFAAS in isoform 3 and isoform 4. 1 PublicationVSP_003356Add
BLAST
Alternative sequencei1201 – 22151015Missing in isoform 3 and isoform 4. 1 PublicationVSP_003357Add
BLAST
Alternative sequencei1433 – 147038Missing in isoform 7. 1 PublicationVSP_003359Add
BLAST
Alternative sequencei1524 – 156138Missing in isoform 2 and isoform 8. 2 PublicationsVSP_003360Add
BLAST
Alternative sequencei2117 – 21182Missing in isoform 2. 1 PublicationVSP_045848

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U39226 mRNA. Translation: AAB03679.1.
U55208 mRNA. Translation: AAC50927.1.
U55209 mRNA. Translation: AAC50722.1.
AP000752 Genomic DNA. No translation available.
AP001855 Genomic DNA. No translation available.
L29146 mRNA. Translation: AAA20909.1.
U34227 mRNA. Translation: AAC50218.1.
BF869194 mRNA. No translation available.
AH006665 Genomic DNA. Translation: AAC51150.1.
CCDSiCCDS53683.1. [Q13402-1]
CCDS53684.1. [Q13402-2]
PIRiA59255.
A59257.
I61697.
RefSeqiNP_000251.3. NM_000260.3. [Q13402-1]
NP_001120651.2. NM_001127179.2.
NP_001120652.1. NM_001127180.1. [Q13402-2]
UniGeneiHs.370421.

Genome annotation databases

EnsembliENST00000409619; ENSP00000386635; ENSG00000137474. [Q13402-8]
ENST00000409709; ENSP00000386331; ENSG00000137474. [Q13402-1]
ENST00000458637; ENSP00000392185; ENSG00000137474. [Q13402-2]
GeneIDi4647.
KEGGihsa:4647.
UCSCiuc001oyb.2. human. [Q13402-1]

Polymorphism databases

DMDMi460018219.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Hereditary hearing loss homepage

Gene page

Mutations of the MYO7A gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U39226 mRNA. Translation: AAB03679.1 .
U55208 mRNA. Translation: AAC50927.1 .
U55209 mRNA. Translation: AAC50722.1 .
AP000752 Genomic DNA. No translation available.
AP001855 Genomic DNA. No translation available.
L29146 mRNA. Translation: AAA20909.1 .
U34227 mRNA. Translation: AAC50218.1 .
BF869194 mRNA. No translation available.
AH006665 Genomic DNA. Translation: AAC51150.1 .
CCDSi CCDS53683.1. [Q13402-1 ]
CCDS53684.1. [Q13402-2 ]
PIRi A59255.
A59257.
I61697.
RefSeqi NP_000251.3. NM_000260.3. [Q13402-1 ]
NP_001120651.2. NM_001127179.2.
NP_001120652.1. NM_001127180.1. [Q13402-2 ]
UniGenei Hs.370421.

3D structure databases

ProteinModelPortali Q13402.
SMRi Q13402. Positions 1-935, 993-1686, 1712-2202.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110731. 13 interactions.
IntActi Q13402. 1 interaction.
MINTi MINT-1895479.
STRINGi 9606.ENSP00000386331.

PTM databases

PhosphoSitei Q13402.

Polymorphism databases

DMDMi 460018219.

Proteomic databases

MaxQBi Q13402.
PaxDbi Q13402.
PRIDEi Q13402.

Protocols and materials databases

DNASUi 4647.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000409619 ; ENSP00000386635 ; ENSG00000137474 . [Q13402-8 ]
ENST00000409709 ; ENSP00000386331 ; ENSG00000137474 . [Q13402-1 ]
ENST00000458637 ; ENSP00000392185 ; ENSG00000137474 . [Q13402-2 ]
GeneIDi 4647.
KEGGi hsa:4647.
UCSCi uc001oyb.2. human. [Q13402-1 ]

Organism-specific databases

CTDi 4647.
GeneCardsi GC11P076839.
GeneReviewsi MYO7A.
H-InvDB HIX0035966.
HGNCi HGNC:7606. MYO7A.
HPAi CAB034059.
HPA028918.
MIMi 276900. phenotype.
276903. gene.
600060. phenotype.
601317. phenotype.
neXtProti NX_Q13402.
Orphaneti 90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
231178. Usher syndrome type 2.
PharmGKBi PA31411.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5022.
GeneTreei ENSGT00760000119009.
HOGENOMi HOG000007836.
HOVERGENi HBG052557.
InParanoidi Q13402.
KOi K10359.
OMAi VAHINSA.
OrthoDBi EOG7QG433.
PhylomeDBi Q13402.
TreeFami TF335306.

Enzyme and pathway databases

Reactomei REACT_160156. The canonical retinoid cycle in rods (twilight vision).

Miscellaneous databases

GeneWikii MYO7A.
GenomeRNAii 4647.
NextBioi 17912.
PROi Q13402.
SOURCEi Search...

Gene expression databases

Bgeei Q13402.
CleanExi HS_MYO7A.
ExpressionAtlasi Q13402. baseline and differential.
Genevestigatori Q13402.

Family and domain databases

Gene3Di 1.20.80.10. 2 hits.
2.30.29.30. 1 hit.
InterProi IPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR000048. IQ_motif_EF-hand-BS.
IPR001609. Myosin_head_motor_dom.
IPR000857. MyTH4_dom.
IPR027417. P-loop_NTPase.
IPR011993. PH_like_dom.
IPR001452. SH3_domain.
IPR029071. Ubiquitin-rel_dom.
[Graphical view ]
Pfami PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
PF00612. IQ. 3 hits.
PF00063. Myosin_head. 1 hit.
PF00784. MyTH4. 2 hits.
[Graphical view ]
PRINTSi PR00193. MYOSINHEAVY.
SMARTi SM00295. B41. 2 hits.
SM00015. IQ. 4 hits.
SM00242. MYSc. 1 hit.
SM00139. MyTH4. 2 hits.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF47031. SSF47031. 2 hits.
SSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 2 hits.
SSF54236. SSF54236. 2 hits.
PROSITEi PS50057. FERM_3. 2 hits.
PS50096. IQ. 3 hits.
PS51456. MYOSIN_MOTOR. 1 hit.
PS51016. MYTH4. 2 hits.
PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia."
    Weil D., Levy G., Sahly I., Levi-Acobas F., Blanchard S., El-Amraoui A., Crozet F., Philippe H., Abitbol M., Petit C.
    Proc. Natl. Acad. Sci. U.S.A. 93:3232-3237(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 5; 6 AND 7), DEVELOPMENTAL STAGE, VARIANTS CYS-1666 AND ILE-1954.
    Tissue: Retina.
  2. "Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B."
    Chen Z.-Y., Hasson T., Kelley P.M., Schwender B.J., Schwartz M.F., Ramakrishnan M., Kimberling W.J., Mooseker M.S., Corey D.P.
    Genomics 36:440-448(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), VARIANTS CYS-1666 AND ILE-1954.
    Tissue: Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types."
    Bement W.M., Hasson T., Wirth J.A., Cheney R.E., Mooseker M.S.
    Proc. Natl. Acad. Sci. U.S.A. 91:6549-6553(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 166-196.
    Tissue: Epithelium, Leukocyte and Liver.
  5. "Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B."
    Hasson T., Heintzelman M.B., Santos-Sacchi J., Corey D.P., Mooseker M.S.
    Proc. Natl. Acad. Sci. U.S.A. 92:9815-9819(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1075.
    Tissue: Testis.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-117 (ISOFORM 8).
  7. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 96-564 (ISOFORM 1), VARIANTS USH1B.
    Tissue: Retina.
  8. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 79-578.
  9. "Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells."
    El-Amraoui A., Sahly I., Picaud S., Sahel J., Abitbol M., Petit C.
    Hum. Mol. Genet. 5:1171-1178(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE.
  10. "MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes."
    El-Amraoui A., Schonn J.-S., Kuessel-Andermann P., Blanchard S., Desnos C., Henry J.-P., Wolfrum U., Darchen F., Petit C.
    EMBO Rep. 3:463-470(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MYRIP.
  11. "Function of MYO7A in the human RPE and the validity of shaker1 mice as a model for Usher syndrome 1B."
    Gibbs D., Diemer T., Khanobdee K., Hu J., Bok D., Williams D.S.
    Invest. Ophthalmol. Vis. Sci. 51:1130-1135(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  12. "Functional characterization of the human myosin-7a motor domain."
    Heissler S.M., Manstein D.J.
    Cell. Mol. Life Sci. 69:299-311(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, ENZYME REGULATION.
  13. "The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65."
    Lopes V.S., Gibbs D., Libby R.T., Aleman T.S., Welch D.L., Lillo C., Jacobson S.G., Radu R.A., Steel K.P., Williams D.S.
    Hum. Mol. Genet. 20:2560-2570(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH RPE65.
  14. "Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."
    Grati M., Kachar B.
    Proc. Natl. Acad. Sci. U.S.A. 108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN A COMPLEX WITH USH1C AND USH1G, TISSUE SPECIFICITY.
  15. "Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients."
    Weston M.D., Kelley P.M., Overbeck L.D., Wagenaar M., Orten D.J., Hasson T., Chen Z.-Y., Corey D.P., Mooseker M.S., Sumegi J., Cremers C., Moeller C., Jacobson S.G., Gorin M.B., Kimberling W.J.
    Am. J. Hum. Genet. 59:1074-1083(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B CYS-212; HIS-212; HIS-302; GLN-450; GLN-468 INS AND LEU-503.
  16. "Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins."
    Adato A., Weil D., Kalinski H., Pel-Or Y., Ayadi H., Petit C., Korostishevsky M., Bonne-Tamir B.
    Am. J. Hum. Genet. 61:813-821(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B ARG-214; ASP-397 AND THR-826, POLYMORPHISM.
  17. Cited for: VARIANTS USH1B ARG-25; SER-955 AND GLU-2137, POLYMORPHISM.
  18. "Mutations in the myosin VIIA gene cause non-syndromic recessive deafness."
    Liu X.-Z., Walsh J., Mburu P., Kendrick-Jones J., Cope M.J., Steel K.P., Brown S.D.M.
    Nat. Genet. 16:188-190(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB2 PRO-244.
  19. "The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene."
    Weil D., Kuessel P., Blanchard S., Levy G., Levi-Acobas F., Drira M., Ayadi H., Petit C.
    Nat. Genet. 16:191-193(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB2 ILE-599.
  20. "Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene."
    Liu X.-Z., Walsh J., Tamagawa Y., Kitamura K., Nishizawa M., Steel K.P., Brown S.D.M.
    Nat. Genet. 17:268-269(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA11 886-ALA--LYS-888 DEL.
  21. "Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome."
    Liu X.-Z., Hope C., Walsh J., Newton V., Ke X.M., Liang C.Y., Xu L.R., Zhou J.M., Trump D., Steel K.P., Bundey S., Brown S.D.M.
    Am. J. Hum. Genet. 63:909-912(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B PRO-651 AND GLN-1602.
  22. "Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance."
    Adato A., Kalinski H., Weil D., Chaib H., Korostishevsky M., Bonne-Tamir B.
    Am. J. Hum. Genet. 65:261-265(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT USH1B PRO-1087.
  23. "Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity."
    Janecke A.R., Meins M., Sadeghi M., Grundmann K., Apfelstedt-Sylla E., Zrenner E., Rosenberg T., Gal A.
    Hum. Mutat. 13:133-140(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B, POLYMORPHISM.
  24. Cited for: VARIANTS USH1B LYS-1170 AND CYS-1719.
  25. "Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I."
    Bharadwaj A.K., Kasztejna J.P., Huq S., Berson E.L., Dryja T.P.
    Exp. Eye Res. 71:173-181(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B GLU-26; MET-67; PRO-90; ASN-134; CYS-241; LYS-269 DEL; VAL-457; ASP-519; ASP-968; GLN-1240; PRO-1288; PHE-1346 DEL; TRP-1743; PRO-1858; LEU-1887 AND ASP-2187.
  26. "Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively."
    Najera C., Beneyto M., Blanca J., Aller E., Fontcuberta A., Millan J.M., Ayuso C.
    Hum. Mutat. 20:76-77(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B ASP-397; LYS-1170; LYS-1327; 1347-ARG--PHE-1351 DEL; MET-1566 AND CYS-1719.
  27. "Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)."
    Luijendijk M.W.J., Van Wijk E., Bischoff A.M.L.C., Krieger E., Huygen P.L.M., Pennings R.J.E., Brunner H.G., Cremers C.W.R.J., Cremers F.P.M., Kremer H.
    Hum. Genet. 115:149-156(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA11 ILE-458.
  28. "Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)."
    Bolz H., Bolz S.-S., Schade G., Kothe C., Mohrmann G., Hess M., Gal A.
    Hum. Mutat. 24:274-275(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA11 CYS-853, INTERACTION WITH CALM, CHARACTERIZATION OF VARIANT DFNA11 CYS-853.
  29. "Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation."
    Street V.A., Kallman J.C., Kiemele K.L.
    J. Med. Genet. 41:E62-E62(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA11 ARG-722.
  30. "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population."
    Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G., Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D.M., Balkany T., Liu X.Z.
    Hum. Genet. 116:292-299(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B SER-16; ARG-25; MET-165; TRP-756; ASP-968 AND GLN-1883.
  31. "Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%."
    Roux A.-F., Faugere V., Le Guedard S., Pallares-Ruiz N., Vielle A., Chambert S., Marlin S., Hamel C., Gilbert B., Malcolm S., Claustres M.
    J. Med. Genet. 43:763-768(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B ASP-133; ARG-163; ARG-164; MET-165; THR-198; ALA-204; ASP-519; LYS-1170; GLN-1240; PRO-1858; TRP-1873 AND PHE-1962 DEL, VARIANTS MET-1566 AND CYS-1719.
  32. "Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis."
    Wang X., Wang H., Cao M., Li Z., Chen X., Patenia C., Gore A., Abboud E.B., Al-Rajhi A.A., Lewis A.R., Lupski J.R., Mardon G., Zhang K., Muzny D., Gibbs R.A., Chen R.
    Hum. Mutat. 32:1450-1459(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LCA ILE-193.
  33. "Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1."
    Liu F., Li P., Liu Y., Li W., Wong F., Du R., Wang L., Li C., Jiang F., Tang Z., Liu M.
    Mol. Vis. 19:695-701(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN USH1B, VARIANT USH1B LYS-1248.
  34. "Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2."
    Rong W., Chen X., Zhao K., Liu Y., Liu X., Ha S., Liu W., Kang X., Sheng X., Zhao C.
    PLoS ONE 9:E97808-E97808(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1B MET-165 AND ARG-946.

Entry informationi

Entry nameiMYO7A_HUMAN
AccessioniPrimary (citable) accession number: Q13402
Secondary accession number(s): B9A011
, F8VUN5, P78427, Q13321, Q14785, Q92821, Q92822
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: March 6, 2013
Last modified: October 29, 2014
This is version 169 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

Caution

Represents an unconventional myosin. This protein should not be confused with the conventional myosin-7 (MYH7).Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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