(data stored in ACNUC5448 zone)

HOGENOM: HS11_PE2478

ID   HS11_PE2478                          STANDARD;      PRT;   2215 AA.
AC   HS11_PE2478; Q13402; P78427; Q13321; Q14785; Q92821; Q92822;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Myosin-VIIa; (HS11.PE2478).
GN   Name=MYO7A; Synonyms=USH1B;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS11.PE2478.
CC       Homo sapiens chromosome 11 GRCh37  sequence 1..134946516 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:MYO7A_HUMAN
CC   -!- FUNCTION: Myosins are actin-based motor molecules with ATPase
CC       activity. Unconventional myosins serve in intracellular movements.
CC       Their highly divergent tails are presumed to bind to membranous
CC       compartments, which would be moved relative to actin filaments. In
CC       retina, myosin VIIa might play a role in trafficking of ribbon-
CC       synaptic vesicle complexes and renewal of the outer photoreceptors
CC       disks. In inner ear, it might maintain the rigidity of stereocilia
CC       during the dynamic movements of the bundle. Involved in hair-cell
CC       vesicle trafficking of aminoglycosides, which are known to induce
CC       ototoxicity (By similarity).
CC   -!- SUBUNIT: Interacts with PLEKHB1 (via PH domain) (By similarity).
CC       Might homodimerize in a two headed molecule through the formation
CC       of a coiled-coil rod. Binds MYRIP and WHRN.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm (Probable). Note=In the
CC       photoreceptor cells, mainly localized in the inner and base of
CC       outer segments as well as in the synaptic ending region.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=7;
CC         Comment=Additional isoforms seem to exist;
CC       Name=1;
CC         IsoId=Q13402-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q13402-2; Sequence=VSP_003360;
CC       Name=3;
CC         IsoId=Q13402-3; Sequence=VSP_003356, VSP_003357;
CC       Name=4;
CC         IsoId=Q13402-4; Sequence=VSP_003355, VSP_003356, VSP_003357;
CC       Name=5;
CC         IsoId=Q13402-5; Sequence=VSP_003353, VSP_003354;
CC       Name=6;
CC         IsoId=Q13402-6; Sequence=VSP_003358;
CC       Name=7;
CC         IsoId=Q13402-7; Sequence=VSP_003359;
CC   -!- TISSUE SPECIFICITY: Expressed in the pigment epithelium and the
CC       photoreceptor cells of the retina. Also found in kidney, liver,
CC       testis, cochlea, lymphocytes. Not expressed in brain.
CC   -!- DEVELOPMENTAL STAGE: Detected in optic cup in 5.5 weeks-old
CC       embryos. Expressed in retinal pigment epithelium, cochlear and
CC       vestibular neuroepithelia, and olfactory epithelium at 8 weeks. At
CC       19 weeks, present in both pigment epithelium and photoreceptor
CC       cells. At 24-28 weeks, expression in pigment epithelium and
CC       photoreceptor cells increases. Present in pigment epithelium and
CC       photoreceptor cells in adult.
CC   -!- DISEASE: Defects in MYO7A are the cause of Usher syndrome type 1B
CC       (USH1B) [MIM:276900]. USH is a genetically heterogeneous condition
CC       characterized by the association of retinitis pigmentosa and
CC       sensorineural deafness. Age at onset and differences in auditory
CC       and vestibular function distinguish Usher syndrome type 1 (USH1),
CC       Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3).
CC       USH1 is characterized by profound congenital sensorineural
CC       deafness, absent vestibular function and prepubertal onset of
CC       progressive retinitis pigmentosa leading to blindness.
CC   -!- DISEASE: Defects in MYO7A are the cause of deafness autosomal
CC       recessive type 2 (DFNB2) [MIM:600060]; also called neurosensory
CC       non-syndromic recessive deafness 2 (NSRD2). DFNB2 is a form of
CC       sensorineural hearing loss. Sensorineural deafness results from
CC       damage to the neural receptors of the inner ear, the nerve
CC       pathways to the brain, or the area of the brain that receives
CC       sound information.
CC   -!- DISEASE: Defects in MYO7A are the cause of deafness autosomal
CC       dominant type 11 (DFNA11) [MIM:601317].
CC   -!- SIMILARITY: Contains 2 FERM domains.
CC   -!- SIMILARITY: Contains 5 IQ domains.
CC   -!- SIMILARITY: Contains 1 myosin head-like domain.
CC   -!- SIMILARITY: Contains 2 MyTH4 domains.
CC   -!- SIMILARITY: Contains 1 SH3 domain.
CC   -!- WEB RESOURCE: Name=Hereditary hearing loss homepage; Note=Gene
CC       page;
CC       URL="http://webhost.ua.ac.be/hhh/";
CC   -!- WEB RESOURCE: Name=Mutations of the MYO7A gene; Note=Retina
CC       International's Scientific Newsletter;
CC       URL="http://www.retina-international.com/sci-news/myomut.htm";
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYO7A";
CC   -!- GENE_FAMILY: HOG000007836 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000137474;ENST00000409709;ENSP00000386331.
DR   EMBL; L29146; - ;
DR   EMBL; U34227; - ;
DR   EMBL; U39226; - ;
DR   EMBL; U55208; - ;
DR   EMBL; U55209; - ;
DR   EMBL; U61419; - ;
DR   EMBL; U61420; - ;
DR   EMBL; U61421; - ;
DR   UniProtKB/Swiss-Prot; Q13402; P78427; Q13321; Q14785; Q92821; Q92822; -.
DR   EMBL; U39226; AAB03679.1; -; mRNA.
DR   EMBL; U55208; AAC50927.1; -; mRNA.
DR   EMBL; U55209; AAC50722.1; -; mRNA.
DR   EMBL; L29146; AAA20909.1; -; mRNA.
DR   EMBL; U34227; AAC50218.1; -; mRNA.
DR   EMBL; U61421; AAC51150.1; -; Genomic_DNA.
DR   EMBL; U61419; AAC51150.1; JOINED; Genomic_DNA.
DR   EMBL; U61420; AAC51150.1; JOINED; Genomic_DNA.
DR   IPI; IPI00013193; -.
DR   IPI; IPI00215753; -.
DR   IPI; IPI00215754; -.
DR   IPI; IPI00215756; -.
DR   IPI; IPI00215758; -.
DR   IPI; IPI00215759; -.
DR   IPI; IPI00936807; -.
DR   PIR; A59255; A59255.
DR   PIR; A59257; A59257.
DR   PIR; I61697; I61697.
DR   RefSeq; NP_000251.3; NM_000260.3.
DR   RefSeq; NP_001120651.2; NM_001127179.2.
DR   RefSeq; NP_001120652.1; NM_001127180.1.
DR   UniGene; Hs.370421; -.
DR   ProteinModelPortal; Q13402; -.
DR   SMR; Q13402; 3-769, 993-1686, 1709-2207.
DR   MINT; MINT-1895479; -.
DR   STRING; Q13402; -.
DR   PhosphoSite; Q13402; -.
DR   PRIDE; Q13402; -.
DR   Ensembl; ENST00000409709; ENSP00000386331; ENSG00000137474.
DR   GeneID; 4647; -.
DR   KEGG; hsa:4647; -.
DR   UCSC; uc001oyb.2; human.
DR   UCSC; uc001oyc.2; human.
DR   CTD; 4647; -.
DR   GeneCards; GC11P073136; -.
DR   H-InvDB; HIX0035966; -.
DR   HGNC; HGNC:7606; MYO7A.
DR   HPA; CAB034059; -.
DR   HPA; HPA028918; -.
DR   MIM; 276900; phenotype.
DR   MIM; 276903; gene.
DR   MIM; 600060; phenotype.
DR   MIM; 601317; phenotype.
DR   neXtProt; NX_Q13402; -.
DR   Orphanet; 90635; Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
DR   Orphanet; 90636; Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
DR   Orphanet; 231169; Usher syndrome type 1.
DR   eggNOG; prNOG04352; -.
DR   GeneTree; ENSGT00600000084203; -.
DR   InParanoid; Q13402; -.
DR   OrthoDB; EOG4S1T67; -.
DR   PhylomeDB; Q13402; -.
DR   ArrayExpress; Q13402; -.
DR   Bgee; Q13402; -.
DR   CleanEx; HS_MYO7A; -.
DR   Genevestigator; Q13402; -.
DR   GermOnline; ENSG00000137474; Homo sapiens.
DR   GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR   GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR   GO; GO:0016459; C:myosin complex; IEA:UniProtKB-KW.
DR   GO; GO:0001917; C:photoreceptor inner segment; IDA:UniProtKB.
DR   GO; GO:0001750; C:photoreceptor outer segment; IDA:UniProtKB.
DR   GO; GO:0045202; C:synapse; IDA:UniProtKB.
DR   GO; GO:0003779; F:actin binding; IEA:UniProtKB-KW.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0005516; F:calmodulin binding; IMP:UniProtKB.
DR   GO; GO:0000146; F:microfilament motor activity; NAS:UniProtKB.
DR   GO; GO:0030048; P:actin filament-based movement; NAS:UniProtKB.
DR   GO; GO:0050957; P:equilibrioception; IMP:HGNC.
DR   GO; GO:0007040; P:lysosome organization; IDA:UniProtKB.
DR   GO; GO:0007605; P:sensory perception of sound; IMP:UniProtKB.
DR   GO; GO:0007601; P:visual perception; IMP:UniProtKB.
DR   InterPro; IPR019749; Band_41_domain.
DR   InterPro; IPR014352; FERM/acyl-CoA-bd_prot_3-hlx.
DR   InterPro; IPR019748; FERM_central.
DR   InterPro; IPR000299; FERM_domain.
DR   InterPro; IPR018979; FERM_N.
DR   InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR   InterPro; IPR001609; Myosin_head_motor_dom.
DR   InterPro; IPR000857; MyTH4_dom.
DR   InterPro; IPR011993; PH_type.
DR   InterPro; IPR001452; SH3_domain.
DR   Gene3D; G3DSA:1.20.80.10; ACBP; 2.
DR   Gene3D; G3DSA:2.30.29.30; PH_type; 1.
DR   Pfam; PF00373; FERM_M; 1.
DR   Pfam; PF09379; FERM_N; 1.
DR   Pfam; PF00612; IQ; 3.
DR   Pfam; PF00063; Myosin_head; 1.
DR   Pfam; PF00784; MyTH4; 2.
DR   PRINTS; PR00193; MYOSINHEAVY.
DR   SMART; SM00295; B41; 2.
DR   SMART; SM00015; IQ; 4.
DR   SMART; SM00242; MYSc; 1.
DR   SMART; SM00139; MyTH4; 2.
DR   SMART; SM00326; SH3; 1.
DR   SUPFAM; SSF47031; FERM_3-hlx; 2.
DR   SUPFAM; SSF50044; SH3; 1.
DR   PROSITE; PS00660; FERM_1; FALSE_NEG.
DR   PROSITE; PS00661; FERM_2; FALSE_NEG.
DR   PROSITE; PS50057; FERM_3; 2.
DR   PROSITE; PS50096; IQ; 3.
DR   PROSITE; PS51016; MYTH4; 2.
DR   PROSITE; PS50002; SH3; 1.
DR   HOGENOMDNA; HS11.PE2478; -.
KW   ENSG000001374741755old_1320000031; ENSP000003863317901old_1320000031;
KW   L29146; U34227; U39226; U55208; U55209; U61419; U61420; U61421;
KW   Actin-binding; Alternative splicing; ATP-binding; Calmodulin-binding;
KW   Coiled coil; Complete proteome; Cytoplasm; Deafness; Disease mutation;
KW   Hearing; Motor protein; Myosin; Non-syndromic deafness;
KW   Nucleotide-binding; Phosphoprotein; Polymorphism; Reference proteome;
KW   Repeat; Retinitis pigmentosa; SH3 domain; Usher syndrome.
SQ   SEQUENCE   2215 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MVILQQGDHV WMDLRLGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP QNATHIKPMH
     PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS ILVAVNPYQL LSIYSPEHIR
     QYTNKKIGEM PPHIFAIADN CYFNMKRNSR DQCCIISGES GAGKTESTKL ILQFLAAISG
     QHSWIEQQVL EATPILEAFG NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS
     RVCRQALDER NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN
     IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP SLATAASLLE
     VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK GIYGRLFVWI VDKINAAIYK
     PPSQDVKNSR RSIGLLDIFG FENFAVNSFE QLCINFANEH LQQFFVRHVF KLEQEEYDLE
     SIDWLHIEFT DNQDALDMIA NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP
     PKNNHETQFG INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG
     AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH LCVRQLRYSG
     MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD LRGTCQRMAE AVLGTHDDWQ
     IGKTKIFLKD HHDMLLEVER DKAITDRVIL LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG
     HNCRKNYGLM RLGFLRLQAL HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV
     LTVQAYARGM IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER
     LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL GTSGGLPGQE
     GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK FAKFAATYFQ GTTTHSYTRR
     PLKQPLLYHD DEGDQLAALA VWITILRFMG DLPEPKYHTA MSDGSEKIPV MTKIYETLGK
     KTYKRELQAL QGEGEAQLPE GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN
     SMLEDRPTSN LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG
     CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ ATKSKKPIML
     PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS LYIALFDKVS SLGSGSDHVM
     DAISQCEQYA KEQGAQERNA PWRLFFRKEV FTPWHSPSED NVATNLIYQQ VVRGVKFGEY
     RCEKEDDLAE LASQQYFVDY GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK
     KGIYAQRRTD AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF
     VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP AGPCSPCWSC
     RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG LRKRSKYVVA LQDNPNPAGE
     ESGFLSFAKG DLIILDHDTG EQVMNSGWAN GINERTKQRG DFPTDSVYVM PTVTMPPREI
     VALVTMTPDQ RQDVVRLLQL RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG
     KDRLWSHTRE PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF
     EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL LPHVQRFLQS
     RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT QIFHKVYFPD DTDEAFEVES
     STKAKDFCQN IATRLLLKSS EGFSLFVKIA DKVLSVPEND FFFDFVRHLT DWIKKARPIK
     DGIVPSLTYQ VFFMKKLWTT TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL
     IYRVKFEEDK SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF
     LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT THPFTKISNW
     SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ MLTAMSKQRG SRSGK
//

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