Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q13402

- MYO7A_HUMAN

UniProt

Q13402 - MYO7A_HUMAN

Protein

Unconventional myosin-VIIa

Gene

MYO7A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 168 (01 Oct 2014)
      Sequence version 2 (06 Mar 2013)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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. protein binding Source: UniProtKB
    8. 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

    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. cell cortex Source: UniProtKB-SubCell
    3. cytoplasm Source: MGI
    4. cytosol Source: UniProtKB
    5. lysosomal membrane Source: UniProtKB
    6. melanosome Source: Ensembl
    7. myosin VII complex Source: Ensembl
    8. photoreceptor connecting cilium Source: Ensembl
    9. photoreceptor inner segment Source: UniProtKB
    10. photoreceptor outer segment Source: UniProtKB
    11. stereocilium Source: Ensembl
    12. synapse Source: UniProtKB

    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.12 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. 2 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 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 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.
    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 nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231169. Usher syndrome type 1.
    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

    ArrayExpressiQ13402.
    BgeeiQ13402.
    CleanExiHS_MYO7A.
    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. 12 interactions.
    IntActiQ13402. 1 interaction.
    MINTiMINT-1895479.
    STRINGi9606.ENSP00000386331.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13402.
    SMRiQ13402. Positions 27-935, 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.
    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

    MVILQQGDHV WMDLRLGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP     50
    QNATHIKPMH PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS 100
    ILVAVNPYQL LSIYSPEHIR QYTNKKIGEM PPHIFAIADN CYFNMKRNSR 150
    DQCCIISGES GAGKTESTKL ILQFLAAISG QHSWIEQQVL EATPILEAFG 200
    NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS RVCRQALDER 250
    NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN 300
    IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP 350
    SLATAASLLE VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK 400
    GIYGRLFVWI VDKINAAIYK PPSQDVKNSR RSIGLLDIFG FENFAVNSFE 450
    QLCINFANEH LQQFFVRHVF KLEQEEYDLE SIDWLHIEFT DNQDALDMIA 500
    NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP PKNNHETQFG 550
    INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG 600
    AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH 650
    LCVRQLRYSG MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD 700
    LRGTCQRMAE AVLGTHDDWQ IGKTKIFLKD HHDMLLEVER DKAITDRVIL 750
    LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG HNCRKNYGLM RLGFLRLQAL 800
    HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV LTVQAYARGM 850
    IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER 900
    LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL 950
    GTSGGLPGQE GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK 1000
    FAKFAATYFQ GTTTHSYTRR PLKQPLLYHD DEGDQLAALA VWITILRFMG 1050
    DLPEPKYHTA MSDGSEKIPV MTKIYETLGK KTYKRELQAL QGEGEAQLPE 1100
    GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN SMLEDRPTSN 1150
    LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG 1200
    CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ 1250
    ATKSKKPIML PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS 1300
    LYIALFDKVS SLGSGSDHVM DAISQCEQYA KEQGAQERNA PWRLFFRKEV 1350
    FTPWHSPSED NVATNLIYQQ VVRGVKFGEY RCEKEDDLAE LASQQYFVDY 1400
    GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK KGIYAQRRTD 1450
    AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF 1500
    VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP 1550
    AGPCSPCWSC RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG 1600
    LRKRSKYVVA LQDNPNPAGE ESGFLSFAKG DLIILDHDTG EQVMNSGWAN 1650
    GINERTKQRG DFPTDSVYVM PTVTMPPREI VALVTMTPDQ RQDVVRLLQL 1700
    RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG KDRLWSHTRE 1750
    PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF 1800
    EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL 1850
    LPHVQRFLQS RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT 1900
    QIFHKVYFPD DTDEAFEVES STKAKDFCQN IATRLLLKSS EGFSLFVKIA 1950
    DKVLSVPEND FFFDFVRHLT DWIKKARPIK DGIVPSLTYQ VFFMKKLWTT 2000
    TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL IYRVKFEEDK 2050
    SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF 2100
    LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT 2150
    THPFTKISNW SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ 2200
    MLTAMSKQRG SRSGK 2215
    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. 2 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 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 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.
    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 27-935, 993-1686, 1712-2202.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110731. 12 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 nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231169. Usher syndrome type 1.
    PharmGKBi PA31411.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5022.
    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

    ArrayExpressi Q13402.
    Bgeei Q13402.
    CleanExi HS_MYO7A.
    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

    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.

    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 1, 2014
    This is version 168 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