MYO15A
MYO15A | |||||||||||||||||||||||||
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Identifikatori | |||||||||||||||||||||||||
Aliasi | MYO15A | ||||||||||||||||||||||||
Vanjski ID-jevi | OMIM: 602666 MGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A | ||||||||||||||||||||||||
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Ortolozi | |||||||||||||||||||||||||
Vrste | Čovjek | Miš | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
RefSeq (mRNK) | |||||||||||||||||||||||||
RefSeq (bjelančevina) | |||||||||||||||||||||||||
Lokacija (UCSC) | Chr 17: 18.11 – 18.18 Mb | Chr 11: 60.36 – 60.42 Mb | |||||||||||||||||||||||
PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
Wikipodaci | |||||||||||||||||||||||||
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Miozin-XV je protein koji je kod ljudi kodiran genom MYO15A.[5][6]
Identificirani su i pročitani transkript koji sadrži uzvodni i ovaj gen, ali se smatra da oni ne kodiraju fuzijski protein. Opisano je nekoliko alternativno prerađenih varijanti transkripta, ali njihove sekvence pune dužine nisu određene.[6]
Wang el al. (1998) izolirali su djelimičnu cDNK MYO15A iz biblioteke ljudske cDNK specifičnoe za ljudski hromosom. Izvedeni parcijalni protein od 1.585 aminokiselina dijeli 99% aminokiselinskog identiteta s dijelom proteina miša. MYO15A sadrži N-terminalni motorni domen, dva IQ motiva koja vezuju lahki lanac i repnu regiju koja sadrži MyTH4 i domin sličan talinu. Opseg divergencije sekvence motornog domena MYO15A od ostalih prijavljenih miozina kvalifikovao je MYO15A kao novu granu miozinske superporodice. Northern blot analiza otkrila je ekspresiju MYO15A u ljudskom muzgu fetusa i odraslih, a RT-PCR analiza otkrila je ekspresiju u ljudskoj fetusnoj pužnici. RNK dot-blot analiza pokazala je ekspresiju u jajnicima, sjemenicima, bubrezima i hipofizi.
Aminokiselinska sekvenca[uredi | uredi izvor]
10 | 20 | 30 | 40 | 50 | ||||
---|---|---|---|---|---|---|---|---|
MAKEEDEEKK | AKKGKKGKKA | PEPEKPKRSL | KGTSRLFMGF | RDRTPKISKK | ||||
GQFRSASAFF | WGLHTGPQKT | KRKRKARTVL | KSTSKLMTQM | RMGKKKRAMK | ||||
GKKPSFMVIR | FPGRRGYGRL | RPRARSLSKA | STAINWLTKK | FLLKKAEESG | ||||
SEQATVDAWL | QRSSSRMGSR | KLPFPSGAEI | LRPGGRLRRF | PRSRSIYASG | ||||
EPLGFLPFED | EAPFHHSGSR | KSLYGLEGFQ | DLGEYYDYHR | DGDDYYDRQS | ||||
LHRYEEQEPY | LAGLGPYSPA | WPPYGDHYYG | YPPEDPYDYY | HPDYYGGPFD | ||||
PGYTYGYGYD | DYEPPYAPPS | GYSSPYSYHD | GYEGEAHPYG | YYLDPYAPYD | ||||
APYPPYDLPY | HTPYDVPYFD | PYGVHYTVPY | AEGVYGGGDE | AIYPPEVPYF | ||||
YPEESASAFV | YPWVPPPIPS | PHNPYAHAMD | DIAELEEPED | AGVERQGTSF | ||||
RLPSAAFFEQ | QGMDKPARSK | LSLIRKFRLF | PRPQVKLFGK | EKLEVPLPPS | ||||
LDIPLPLGDA | DEEEDEEELP | PVSAVPYGHP | FWGFLTPRQR | NLQRALSAFG | ||||
AHRGLGFGPE | FGRPVPRPAT | SLARFLKKTL | SEKKPIARLR | GSQKARAGGP | ||||
AVREAAYKRF | GYKLAGMDPE | KPGTPIVLRR | AQPRARSSND | ARRPPAPQPA | ||||
PRTLSHWSAL | LSPPVPPRPP | SSGPPPAPPL | SPALSGLPRP | ASPYGSLRRH | ||||
PPPWAAPAHV | PPAPQASWWA | FVEPPAVSPE | VPPDLLAFPG | PRPSFRGSRR | ||||
RGAAFGFPGA | SPRASRRRAW | SPLASPQPSL | RSSPGLGYCS | PLAPPSPQLS | ||||
LRTGPFQPPF | LPPARRPRSL | QESPAPRRAA | GRLGPPGSPL | PGSPRPPSPP | ||||
LGLCHSPRRS | SLNLPSRLPH | TWRRLSEPPT | RAVKPQVRLP | FHRPPRAGAW | ||||
RAPLEHRESP | REPEDSETPW | TVPPLAPSWD | VDMPPTQRPP | SPWPGGAGSR | ||||
RGFSRPPPVP | ENPFLQLLGP | VPSPTLQPED | PAADMTRVFL | GRHHEPGPGQ | ||||
LTKSAGPTPE | KPEEEATLGD | PQLPAETKPP | TPAPPKDVTP | PKDITPPKDV | ||||
LPEQKTLRPS | LSYPLAACDQ | TRATWPPWHR | WGTLPQAAAP | LAPIRAPEPL | ||||
PKGGERRQAA | PGRFAVVMPR | VQKLSSFQRV | GPATLKPQVQ | PIQDPKPRAC | ||||
SLRWSCLWLR | ADAYGPWPRV | HTHPQSCHLG | PGAACLSLRG | SWEEVGPPSW | ||||
RNKMHSIRNL | PSMRFREQHG | EDGVEDMTQL | EDLQETTVLS | NLKIRFERNL | ||||
IYTYIGSILV | SVNPYQMFGI | YGPEQVQQYN | GRALGENPPH | LFAVANLAFA | ||||
KMLDAKQNQC | IIISGESGSG | KTEATKLILR | YLAAMNQKRE | VMQQIKILEA | ||||
TPLLESFGNA | KTVRNDNSSR | FGKFVEIFLE | GGVISGAITS | QYLLEKSRIV | ||||
FQAKNERNYH | IFYELLAGLP | AQLRQAFSLQ | EAETYYYLNQ | GGNCEIAGKS | ||||
DADDFRRLLA | AMEVLGFSSE | DQDSIFRILA | SILHLGNVYF | EKYETDAQEV | ||||
ASVVSAREIQ | AVAELLQISP | EGLQKAITFK | VTETMREKIF | TPLTVESAVD | ||||
ARDAIAKVLY | ALLFSWLITR | VNALVSPRQD | TLSIAILDIY | GFEDLSFNSF | ||||
EQLCINYANE | NLQYLFNKIV | FQEEQEEYIR | EQIDWQEITF | ADNQPCINLI | ||||
SLKPYGILRI | LDDQCCFPQA | TDHTFLQKCH | YHHGANPLYS | KPKMPLPEFT | ||||
IKHYAGKVTY | QVHKFLDKNH | DQVRQDVLDL | FVRSRTRVVA | HLFSSHAPQA | ||||
APQRLGKSSS | VTRLYKAHTV | AAKFQQSLLD | LVEKMERCNP | LFMRCLKPNH | ||||
KKEPGLFEPD | VVMAQLRYSG | VLETVRIRKE | GFPVRLPFQG | FIDRYCCLVA | ||||
LKHDLPANGD | MCVSVLSRLC | KVMPNMYRVG | VSKLFLKEHL | YQLLESMREH | ||||
VLNLAALTLQ | RCLRGFFIKR | RFRSLRHKII | LLQSRARGYL | ARQRYQQMRR | ||||
SLVKFRSLVH | AYVSRRRYLK | LRAEWRCQVE | GALLWEQEEL | SKREVVAVGH | ||||
LEVPAELAGL | LQAVAGLGLA | QVPQVAPVRT | PRLQAEPRVT | LPLDINNYPM | ||||
AKFVQCHFKE | PAFGMLTVPL | RTPLTQLPAE | HHAEAVSIFK | LILRFMGDPH | ||||
LHGARENIFG | NYIVQKGLAV | PELRDEILAQ | LANQVWHNHN | AHNAERGWLL | ||||
LAACLSGFAP | SPCFNKYLLK | FVSDYGRNGF | QAVCQHRLMQ | AMGRAQQQGS | ||||
GAARTLPPTQ | LEWTATYEKA | SMALDVGCFN | GDQFSCPVHS | WSTGEEVAGD | ||||
ILRHRGLADG | WRGWTVAMKN | GVQWAELAGH | DYVLDLVSDL | ELLRDFPRQK | ||||
SYFIVGTEGP | AASRGGPKVV | FGNSWDSDED | MSTRPQPQEH | MPKVLDSDGY | ||||
SSHNQDGTNG | ETEAQRGTAT | HQESDSLGEP | AVPHKGLDCY | LDSLFDPVLS | ||||
YGDADLEKPT | AIAYRMKGGG | QPGGGSSSGT | EDTPRRPPEP | KPIPGLDAST | ||||
LALQQAFIHK | QAVLLAREMT | LQATALQQQP | LSAALRSLPA | EKPPAPEAQP | ||||
TSVGTGPPAK | PVLLRATPKP | LAPAPLAKAP | RLPIKPVAAP | VLAQDQASPE | ||||
TTSPSPELVR | YSTLNSEHFP | QPTQQIKNIV | RQYQQPFRGG | RPEALRKDGG | ||||
KVFMKRPDPH | EEALMILKGQ | MTHLAAAPGT | QVSREAVALV | KPVTSAPRPS | ||||
MAPTSALPSR | SLEPPEELTQ | TRLHRLINPN | FYGYQDAPWK | IFLRKEVFYP | ||||
KDSYSHPVQL | DLLFRQILHD | TLSEACLRIS | EDERLRMKAL | FAQNQLDTQK | ||||
PLVTESVKRA | VVSTARDTWE | VYFSRIFPAT | GSVGTGVQLL | AVSHVGIKLL | ||||
RMVKGGQEAG | GQLRVLRAYS | FADILFVTMP | SQNMLEFNLA | SEKVILFSAR | ||||
AHQVKTLVDD | FILELKKDSD | YVVAVRNFLP | EDPALLAFHK | GDIIHLQPLE | ||||
PPRVGYSAGC | VVRRKVVYLE | ELRRRGPDFG | WRFGTIHGRV | GRFPSELVQP | ||||
AAAPDFLQLP | TEPGRGRAAA | VAAAVASAAA | AQEVGRRREG | PPVRARSADH | ||||
GEDALALPPY | TMLEFAQKYF | RDPQRRPQDG | LRLKSKEPRE | SRTLEDMLCF | ||||
TKTPLQESLI | ELSDSSLSKM | ATDMFLAVMR | FMGDAPLKGQ | SDLDVLCNLL | ||||
KLCGDHEVMR | DECYCQVVKQ | ITDNTSSKQD | SCQRGWRLLY | IVTAYHSCSE | ||||
VLHPHLTRFL | QDVSRTPGLP | FQGIAKACEQ | NLQKTLRFGG | RLELPSSIEL | ||||
RAMLAGRSSK | RQLFLLPGGL | ERHLKIKTCT | VALDVVEEIC | AEMALTRPEA | ||||
FNEYVIFVVT | NRGQHVCPLS | RRAYILDVAS | EMEQVDGGYM | LWFRRVLWDQ | ||||
PLKFENELYV | TMHYNQVLPD | YLKGLFSSVP | ASRPSEQLLQ | QVSKLASLQH | ||||
RAKDHFYLPS | VREVQEYIPA | QLYRTTAGST | WLNLVSQHRQ | QTQALSPHQA | ||||
RAQFLGLLSA | LPMFGSSFFF | IQSCSNIAVP | APCILAINHN | GLNFLSTETH | ||||
ELMVKFPLKE | IQSTRTQRPT | ANSSYPYVEI | ALGDVAAQRT | LQLQLEQGLE | ||||
LCRVVAVHVE | NLLSAHEKRL | TLPPSEITLL |
- Simboli
C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin
Funkcija[uredi | uredi izvor]
Ovaj gen kodira nekonvencijski miozin. Ovaj protein razlikuje se od ostalih miozina po tome što ima dugi N-terminalni produžetak koji prethodi konzerviranom motornom domenu. Studije na miševima sugeriraju da je ovaj protein neophodan za organizaciju aktina u trepljastim ćelijama pužnice.[6]
Klinički značaj[uredi | uredi izvor]
Mutacije u ovom genu povezane su s dubokom, urođenom, neurosenzornom, nesindromnom gluhoćom.[7] Lociran je unutar regije za Smith–Magenisov sindrom, na hromosomu 17.[6]
Reference[uredi | uredi izvor]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000091536 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042678 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB (Jun 1998). "Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3". Science. 280 (5368): 1447–51. doi:10.1126/science.280.5368.1447. PMID 9603736.
- ^ a b c d "Entrez Gene: MYO15A myosin XVA".
- ^ Riahi, Z; Bonnet, C; Zainine, R; Louha, M; Bouyacoub, Y; Laroussi, N; Chargui, M; Kefi, R; Jonard, L; Dorboz, I; Hardelin, J. P.; Salah, S. B.; Levilliers, J; Weil, D; McElreavey, K; Boespflug, O. T.; Besbes, G; Abdelhak, S; Petit, C (2014). "Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness". PLOS ONE. 9 (6): e99797. doi:10.1371/journal.pone.0099797. PMC 4057390. PMID 24926664.
Dopunska literatura[uredi | uredi izvor]
- Kalay E, Uzumcu A, Krieger E, et al. (2007). "MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation". Am. J. Med. Genet. A. 143 (20): 2382–9. doi:10.1002/ajmg.a.31937. PMID 17853461. S2CID 26797020.
- Nal N, Ahmed ZM, Erkal E, et al. (2007). "Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing". Hum. Mutat. 28 (10): 1014–9. doi:10.1002/humu.20556. PMID 17546645. S2CID 27597330.
- La Rosa S, Capella C, Lloyd RV (2002). "Localization of myosin XVA in endocrine tumors of gut and pancreas". Endocr. Pathol. 13 (1): 29–37. doi:10.1385/EP:13:1:29. PMID 12114748. S2CID 20356974.
- Bi W, Yan J, Stankiewicz P, et al. (2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse". Genome Res. 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594. PMID 11997338.
- Liburd N, Ghosh M, Riazuddin S, et al. (2001). "Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome". Hum. Genet. 109 (5): 535–41. doi:10.1007/s004390100604. PMID 11735029. S2CID 20812371.
- Lloyd RV, Vidal S, Jin L, et al. (2001). "Myosin XVA Expression in the Pituitary and in Other Neuroendocrine Tissues and Tumors". Am. J. Pathol. 159 (4): 1375–82. doi:10.1016/S0002-9440(10)62524-2. PMC 1850513. PMID 11583965.
- Anderson DW, Probst FJ, Belyantseva IA, et al. (2000). "The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells". Hum. Mol. Genet. 9 (12): 1729–38. doi:10.1093/hmg/9.12.1729. PMID 10915760.
- Liang Y, Wang A, Belyantseva IA, et al. (2000). "Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2". Genomics. 61 (3): 243–58. doi:10.1006/geno.1999.5976. PMID 10552926.
- Friedman TB, Liang Y, Weber JL, et al. (1995). "A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17". Nat. Genet. 9 (1): 86–91. doi:10.1038/ng0195-86. PMID 7704031. S2CID 33397422.