MASS1

MASS1
Identifikatori
Aliasi	ADGRV1
Vanjski ID-jevi	OMIM: 602851 MGI: 1274784 HomoloGene: 19815 GeneCards: ADGRV1
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	91,164,437 bp
Lokacija gena (miš)
Hrom.	Hromosom 13 (miš)
Kraj	81,781,273 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• calcium ion binding; • G protein-coupled receptor activity; • signal transducer activity; • GO:0001948, GO:0016582 vezivanje za proteine; • transmembrane signaling receptor activity; • G-protein alpha-subunit binding; • adenylate cyclase inhibitor activity; • hydrolase activity;
Ćelijska komponenta	• citoplazma; • integral component of membrane; • membrana; • receptor complex; • ćelijska membrana; • sinapsa; • stereocilium; • cell surface; • Egzosom; • photoreceptor inner segment; • stereocilia ankle link; • stereocilia ankle link complex; • projekcija ćelije; • stereocilium membrane; • periciliary membrane compartment; • USH2 complex;
Biološki proces	• G protein-coupled receptor signaling pathway; • response to stimulus; • nervous system process; • sensory perception of light stimulus; • sensory perception of sound; • nervous system development; • cell communication; • cell surface receptor signaling pathway; • photoreceptor cell maintenance; • maintenance of animal organ identity; • GO:0072468 Transdukcija signala; • Vid; • cell-cell adhesion; • negative regulation of adenylate cyclase activity; • positive regulation of protein kinase A signaling; • positive regulation of bone mineralization; • regulation of protein stability; • establishment of protein localization; • inner ear development; • detection of mechanical stimulus involved in sensory perception of sound; • inner ear receptor cell stereocilium organization; • cellular response to calcium ion; • positive regulation of protein kinase C signaling; • self proteolysis;
	Izvori:Amigo / QuickGO
Ortolozi
	84059
	110789
	ENSG00000164199
	ENSMUSG00000069170
	Q8WXG9
	Q8VHN7
	NM_032119
	NM_054053
	NP_115495
	NP_473394
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

ADGRV1, znan i kao G-protein spregnuti receptor 98 (GPR98) ili veoma dugi G-protein spregnuti receptor 1 (VLGR1), jest protein koji je kod ljudi kodiran genom GPR98 sa hromosoma 5.^[5] Several alternatively spliced transcripts have been described.^[5]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 6.306 aminokiselina, a molekulska težina 693.069 Da.^[5]

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

10	20	30	40	50
MSVFLGPGMP	SASLLVNLLS	ALLILFVFGE	TEIRFTGQTE	FVVNETSTTV
IRLIIERIGE	PANVTAIVSL	YGEDAGDFFD	TYAAAFIPAG	ETNRTVYIAV
CDDDLPEPDE	TFIFHLTLQK	PSANVKLGWP	RTVTVTILSN	DNAFGIISFN
MLPSIAVSEP	KGRNESMPLT	LIREKGTYGM	VMVTFEVEGG	PNPPDEDLSP
VKGNITFPPG	RATVIYNLTV	LDDEVPENDE	IFLIQLKSVE	GGAEINTSRN
SIEIIIKKND	SPVRFLQSIY	LVPEEDHILI	IPVVRGKDNN	GNLIGSDEYE
VSISYAVTTG	NSTAHAQQNL	DFIDLQPNTT	VVFPPFIHES	HLKFQIVDDT
IPEIAESFHI	MLLKDTLQGD	AVLISPSVVQ	VTIKPNDKPY	GVLSFNSVLF
ERTVIIDEDR	ISRYEEITVV	RNGGTHGNVS	ANWVLTRNST	DPSPVTADIR
PSSGVLHFAQ	GQMLATIPLT	VVDDDLPEEA	EAYLLQILPH	TIRGGAEVSE
PAELLFYIQD	SDDVYGLITF	FPMENQKIES	SPGERYLSLS	FTRLGGTKGD
VRLLYSVLYI	PAGAVDPLQA	KEGILNISRR	NDLIFPEQKT	QVTTKLPIRN
DAFLQNGAHF	LVQLETVELL	NIIPLIPPIS	PRFGEICNIS	LLVTPAIANG
EIGFLSNLPI	ILHEPEDFAA	EVVYIPLHRD	GTDGQATVYW	SLKPSGFNSK
AVTPDDIGPF	NGSVLFLSGQ	SDTTINITIK	GDDIPEMNET	VTLSLDRVNV
ENQVLKSGYT	SRDLIILEND	DPGGVFEFSP	ASRGPYVIKE	GESVELHIIR
SRGSLVKQFL	HYRVEPRDSN	EFYGNTGVLE	FKPGEREIVI	TLLARLDGIP
ELDEHYWVVL	SSHGERESKL	GSATIVNITI	LKNDDPHGII	EFVSDGLIVM
INESKGDAIY	SAVYDVVRNR	GNFGDVSVSW	VVSPDFTQDV	FPVQGTVVFG
DQEFSKNITI	YSLPDEIPEE	MEEFTVILLN	GTGGAKVGNR	TTATLRIRRN
DDPIYFAEPR	VVRVQEGETA	NFTVLRNGSV	DVTCMVQYAT	KDGKATARER
DFIPVEKGET	LIFEVGSRQQ	SISIFVNEDG	IPETDEPFYI	ILLNSTGDTV
VYQYGVATVI	IEANDDPNGI	FSLEPIDKAV	EEGKTNAFWI	LRHRGYFGSV
SVSWQLFQND	SALQPGQEFY	ETSGTVNFMD	GEEAKPIILH	AFPDKIPEFN
EFYFLKLVNI	SGGSPGPGGQ	LAETNLQVTV	MVPFNDDPFG	VFILDPECLE
REVAEDVLSE	DDMSYITNFT	ILRQQGVFGD	VQLGWEILSS	EFPAGLPPMI
DFLLVGIFPT	TVHLQQHMRR	HHSGTDALYF	TGLEGAFGTV	NPKYHPSRNN
TIANFTFSAW	VMPNANTNGF	IIAKDDGNGS	IYYGVKIQTN	ESHVTLSLHY
KTLGSNATYI	AKTTVMKYLE	ESVWLHLLII	LEDGIIEFYL	DGNAMPRGIK
SLKGEAITDG	PGILRIGAGI	NGNDRFTGLM	QDVRSYERKL	TLEEIYELHA
MPAKSDLHPI	SGYLEFRQGE	TNKSFIISAR	DDNDEEGEEL	FILKLVSVYG
GARISEENTT	ARLTIQKSDN	ANGLFGFTGA	CIPEIAEEGS	TISCVVERTR
GALDYVHVFY	TISQIETDGI	NYLVDDFANA	SGTITFLPWQ	RSEVLNIYVL
DDDIPELNEY	FRVTLVSAIP	GDGKLGSTPT	SGASIDPEKE	TTDITIKASD
HPYGLLQFST	GLPPQPKDAM	TLPASSVPHI	TVEEEDGEIR	LLVIRAQGLL
GRVTAEFRTV	SLTAFSPEDY	QNVAGTLEFQ	PGERYKYIFI	NITDNSIPEL
EKSFKVELLN	LEGGVAELFR	VDGSGSGDGD	MEFFLPTIHK	RASLGVASQI
LVTIAASDHA	HGVFEFSPES	LFVSGTEPED	GYSTVTLNVI	RHHGTLSPVT
LHWNIDSDPD	GDLAFTSGNI	TFEIGQTSAN	ITVEILPDED	PELDKAFSVS
VLSVSSGSLG	AHINATLTVL	ASDDPYGIFI	FSEKNRPVKV	EEATQNITLS
IIRLKGLMGK	VLVSYATLDD	MEKPPYFPPN	LARATQGRDY	IPASGFALFG
ANQSEATIAI	SILDDDEPER	SESVFIELLN	STLVAKVQSR	SIPNSPRLGP
KVETIAQLII	IANDDAFGTL	QLSAPIVRVA	ENHVGPIINV	TRTGGAFADV
SVKFKAVPIT	AIAGEDYSIA	SSDVVLLEGE	TSKAVPIYVI	NDIYPELEES
FLVQLMNETT	GGARLGALTE	AVIIIEASDD	PYGLFGFQIT	KLIVEEPEFN
SVKVNLPIIR	NSGTLGNVTV	QWVATINGQL	ATGDLRVVSG	NVTFAPGETI
QTLLLEVLAD	DVPEIEEVIQ	VQLTDASGGG	TIGLDRIANI	IIPANDDPYG
TVAFAQMVYR	VQEPLERSSC	ANITVRRSGG	HFGRLLLFYS	TSDIDVVALA
MEEGQDLLSY	YESPIQGVPD	PLWRTWMNVS	AVGEPLYTCA	TLCLKEQACS
AFSFFSASEG	PQCFWMTSWI	SPAVNNSDFW	TYRKNMTRVA	SLFSGQAVAG
SDYEPVTRQW	AIMQEGDEFA	NLTVSILPDD	FPEMDESFLI	SLLEVHLMNI
SASLKNQPTI	GQPNISTVVI	ALNGDAFGVF	VIYNISPNTS	EDGLFVEVQE
QPQTLVELMI	HRTGGSLGQV	AVEWRVVGGT	ATEGLDFIGA	GEILTFAEGE
TKKTVILTIL	DDSEPEDDES	IIVSLVYTEG	GSRILPSSDT	VRVNILANDN
VAGIVSFQTA	SRSVIGHEGE	ILQFHVIRTF	PGRGNVTVNW	KIIGQNLELN
FANFSGQLFF	PEGSLNTTLF	VHLLDDNIPE	EKEVYQVILY	DVRTQGVPPA
GIALLDAQGY	AAVLTVEASD	EPHGVLNFAL	SSRFVLLQEA	NITIQLFINR
EFGSLGAINV	TYTTVPGMLS	LKNQTVGNLA	EPEVDFVPII	GFLILEEGET
AAAINITILE	DDVPELEEYF	LVNLTYVGLT	MAASTSFPPR	LDSEGLTAQV
IIDANDGARG	VIEWQQSRFE	VNETHGSLTL	VAQRSREPLG	HVSLFVYAQN
LEAQVGLDYI	FTPMILHFAD	GERYKNVNIM	ILDDDIPEGD	EKFQLILTNP
SPGLELGKNT	IALIIVLAND	DGPGVLSFNN	SEHFFLREPT	ALYVQESVAV
LYIVREPAQG	LFGTVTVQFI	VTEVNSSNES	KDLTPSKGYI	VLEEGVRFKA
LQISAILDTE	PEMDEYFVCT	LFNPTGGARL	GVHVQTLITV	LQNQAPLGLF
SISAVENRAT	SIDIEEANRT	VYLNVSRTNG	IDLAVSVQWE	TVSETAFGMR
GMDVVFSVFQ	SFLDESASGW	CFFTLENLIY	GIMLRKSSVT	VYRWQGIFIP
VEDLNIENPK	TCEAFNIGFS	PYFVITHEER	NEEKPSLNSV	FTFTSGFKLF
LVQTIIILES	SQVRYFTSDS	QDYLIIASQR	DDSELTQVFR	WNGGSFVLHQ
KLPVRGVLTV	ALFNKGGSVF	LAISQANARL	NSLLFRWSGS	GFINFQEVPV
SGTTEVEALS	SANDIYLIFA	ENVFLGDQNS	IDIFIWEMGQ	SSFRYFQSVD
FAAVNRIHSF	TPASGIAHIL	LIGQDMSALY	CWNSERNQFS	FVLEVPSAYD
VASVTVKSLN	SSKNLIALVG	AHSHIYELAY	ISSHSDFIPS	SGELIFEPGE
REATIAVNIL	DDTVPEKEES	FKVQLKNPKG	GAEIGINDSV	TITILSNDDA
YGIVAFAQNS	LYKQVEEMEQ	DSLVTLNVER	LKGTYGRITI	AWEADGSISD
IFPTSGVILF	TEGQVLSTIT	LTILADNIPE	LSEVVIVTLT	RITTEGVEDS
YKGATIDQDR	SKSVITTLPN	DSPFGLVGWR	AASVFIRVAE	PKENTTTLQL
QIARDKGLLG	DIAIHLRAQP	NFLLHVDNQA	TENEDYVLQE	TIIIMKENIK
EAHAEVSILP	DDLPELEEGF	IVTITEVNLV	NSDFSTGQPS	VRRPGMEIAE
IMIEENDDPR	GIFMFHVTRG	AGEVITAYEV	PPPLNVLQVP	VVRLAGSFGA
VNVYWKASPD	SAGLEDFKPS	HGILEFADKQ	VTAMIEITII	DDAEFELTET
FNISLISVAG	GGRLGDDVVV	TVVIPQNDSP	FGVFGFEEKT	VMIDESLSSD
DPDSYVTLTV	VRSPGGKGTV	RLEWTIDEKA	KHNLSPLNGT	LHFDETESQK
TIVLHTLQDT	VLEEDRRFTI	QLISIDEVEI	SPVKGSASII	IRGDKRASGE
VGIAPSSRHI	LIGEPSAKYN	GTAIISLVRG	PGILGEVTVF	WRIFPPSVGE
FAETSGKLTM	RDEQSAVIVV	IQALNDDIPE	EKSFYEFQLT	AVSEGGVLSE
SSSTANITVV	ASDSPYGRFA	FSHEQLRVSE	AQRVNITIIR	SSGDFGHVRL
WYKTMSGTAE	AGLDFVPAAG	ELLFEAGEMR	KSLHVEILDD	DYPEGPEEFS
LTITKVELQG	RGYDFTIQEN	GLQIDQPPEI	GNISIVRIII	MKNDNAEGII
EFDPKYTAFE	VEEDVGLIMI	PVVRLHGTYG	YVTADFISQS	SSASPGGVDY
ILHGSTVTFQ	HGQNLSFINI	SIIDDNESEF	EEPIEILLTG	ATGGAVLGRH
LVSRIIIAKS	DSPFGVIRFL	NQSKISIANP	NSTMILSLVL	ERTGGLLGEI
QVNWETVGPN	SQEALLPQNR	DIADPVSGLF	YFGEGEGGVR	TIILTIYPHE
EIEVEETFII	KLHLVKGEAK	LDSRAKDVTL	TIQEFGDPNG	VVQFAPETLS
KKTYSEPLAL	EGPLLITFFV	RRVKGTFGEI	MVYWELSSEF	DITEDFLSTS
GFFTIADGES	EASFDVHLLP	DEVPEIEEDY	VIQLVSVEGG	AELDLEKSIT
WFSVYANDDP	HGVFALYSDR	QSILIGQNLI	RSIQINITRL	AGTFGDVAVG
LRISSDHKEQ	PIVTENAERQ	LVVKDGATYK	VDVVPIKNQV	FLSLGSNFTL
QLVTVMLVGG	RFYGMPTILQ	EAKSAVLPVS	EKAANSQVGF	ESTAFQLMNI
TAGTSHVMIS	RRGTYGALSV	AWTTGYAPGL	EIPEFIVVGN	MTPTLGSLSF
SHGEQRKGVF	LWTFPSPGWP	EAFVLHLSGV	QSSAPGGAQL	RSGFIVAEIE
PMGVFQFSTS	SRNIIVSEDT	QMIRLHVQRL	FGFHSDLIKV	SYQTTAGSAK
PLEDFEPVQN	GELFFQKFQT	EVDFEITIIN	DQLSEIEEFF	YINLTSVEIR
GLQKFDVNWS	PRLNLDFSVA	VITILDNDDL	AGMDISFPET	TVAVAVDTTL
IPVETESTTY	LSTSKTTTIL	QPTNVVAIVT	EATGVSAIPE	KLVTLHGTPA
VSEKPDVATV	TANVSIHGTF	SLGPSIVYIE	EEMKNGTFNT	AEVLIRRTGG
FTGNVSITVK	TFGERCAQME	PNALPFRGIY	GISNLTWAVE	EEDFEEQTLT
LIFLDGERER	KVSVQILDDD	EPEGQEFFYV	FLTNPQGGAQ	IVEEKDDTGF
AAFAMVIITG	SDLHNGIIGF	SEESQSGLEL	REGAVMRRLH	LIVTRQPNRA
FEDVKVFWRV	TLNKTVVVLQ	KDGVNLVEEL	QSVSGTTTCT	MGQTKCFISI
ELKPEKVPQV	EVYFFVELYE	ATAGAAINNS	ARFAQIKILE	SDESQSLVYF
SVGSRLAVAH	KKATLISLQV	ARDSGTGLMM	SVNFSTQELR	SAETIGRTII
SPAISGKDFV	ITEGTLVFEP	GQRSTVLDVI	LTPETGSLNS	FPKRFQIVLF
DPKGGARIDK	VYGTANITLV	SDADSQAIWG	LADQLHQPVN	DDILNRVLHT
ISMKVATENT	DEQLSAMMHL	IEKITTEGKI	QAFSVASRTL	FYEILCSLIN
PKRKDTRGFS	HFAEVTENFA	FSLLTNVTCG	SPGEKSKTIL	DSCPYLSILA
LHWYPQQING	HKFEGKEGDY	IRIPERLLDV	QDAEIMAGKS	TCKLVQFTEY
SSQQWFISGN	NLPTLKNKVL	SLSVKGQSSQ	LLTNDNEVLY	RIYAAEPRII
PQTSLCLLWN	QAAASWLSDS	QFCKVVEETA	DYVECACSHM	SVYAVYARTD
NLSSYNEAFF	TSGFICISGL	CLAVLSHIFC	ARYSMFAAKL	LTHMMAASLG
TQILFLASAY	ASPQLAEESC	SAMAAVTHYL	YLCQFSWMLI	QSVNFWYVLV
MNDEHTERRY	LLFFLLSWGL	PAFVVILLIV	ILKGIYHQSM	SQIYGLIHGD
LCFIPNVYAA	LFTAALVPLT	CLVVVFVVFI	HAYQVKPQWK	AYDDVFRGRT
NAAEIPLILY	LFALISVTWL	WGGLHMAYRH	FWMLVLFVIF	NSLQGLYVFM
VYFILHNQMC	CPMKASYTVE	MNGHPGPSTA	FFTPGSGMPP	AGGEISKSTQ
NLIGAMEEVP	PDWERASFQQ	GSQASPDLKP	SPQNGATFPS	SGGYGQGSLI
ADEESQEFDD	LIFALKTGAG	LSVSDNESGQ	GSQEGGTLTD	SQIVELRRIP
IADTHL

Struktura[uredi | uredi izvor]

Adhezijski GOCR VLҐR1 je najveći od poznatih GOCR, sa sekvencom od 6.300 aminokiselina i sa 90 egzona.^[6] Postoji osam varijanti transkripta VlgR1, pod nazivom VlgR1a-1e i Mass1.1-1.3. N-terminal sastoji se od 5.800 aminokiselina koje sadrže 35 Calx-beta domen, jedan domen pentraksina i jedno ponavljanje povezano sa epilepsijom. Sadrži C-terminalni 7-transmembranski receptorski domen, dok veliki N-terminalni segment (5.900 ostataka) uključuje 35 vezivanja kalcija Calx-beta domena i šest EAR-domena

Funkcija[uredi | uredi izvor]

Ovaj gen kodira člana adhezije GPCR.^[7] Protein vezuje kalcij i eksprimira se u centralnom nervnom sistemu. Poznat je i kao "veoma veliki receptor 1 povezan sa G-proteinom" jer ima 6.300 ostataka. Pokazalo se da mutacije VlgR1 dovode do Usherovog sindroma. Nokauti Vlgr1 kod miševa fenokopiraju Usherov sindrom i dovode do audiogenih napada

Evolucija[uredi | uredi izvor]

Genom morskog ježa u sebi ima homologa VLGR1.^[8]

Klinički značaj[uredi | uredi izvor]

Mutacije u ovom genu povezane su sa Usherovim sindromom 2 i porodičnim febrilnim napadima.^[5]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164199 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000069170 - 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.
^ ^a ^b ^c ^d "Entrez Gene: GPR98 G protein-coupled receptor 98".
^ Sun, JP; Li, R; Ren, HZ; Xu, AT; Yu, X; Xu, ZG (maj 2013). "The very large g protein coupled receptor (vlgr1) in hair cells". J Mol Neurosci. 50 (1): 204–14. doi:10.1007/s12031-012-9911-5. PMID 23180093. S2CID 16730555.
^ Stacey M, Yona S (2011). AdhesionGPCRs: Structure to Function (Advances in Experimental Medicine and Biology). Berlin: Springer. ISBN 978-1-4419-7912-4.
^ Whittakera, Charles A.; Bergerone, Karl-Frederik; Whittlec, James; Bruce, P. (2006). "Brandhorste, Robert D. Burked, Richard O. Hynes. The echinoderm adhesome". Developmental Biology. 300 (1): 252–266. doi:10.1016/j.ydbio.2006.07.044. PMC 3565218. PMID 16950242.

Dopunska literatura[uredi | uredi izvor]

Staub E, Pérez-Tur J, Siebert R, et al. (2002). "The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders". Trends Biochem. Sci. 27 (9): 441–4. doi:10.1016/S0968-0004(02)02163-1. PMID 12217514.
Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
Nakayama J, Hamano K, Iwasaki N, et al. (2000). "Significant evidence for linkage of febrile seizures to chromosome 5q14-q15". Hum. Mol. Genet. 9 (1): 87–91. doi:10.1093/hmg/9.1.87. PMID 10587582.
Pieke-Dahl S, Möller CG, Kelley PM, et al. (2000). "Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q". J. Med. Genet. 37 (4): 256–62. doi:10.1136/jmg.37.4.256. PMC 1734554. PMID 10745043.
Nikkila H, McMillan DR, Nunez BS, et al. (2001). "Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain". Mol. Endocrinol. 14 (9): 1351–64. doi:10.1210/me.14.9.1351. PMID 10976914.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Skradski SL, Clark AM, Jiang H, et al. (2001). "A novel gene causing a mendelian audiogenic mouse epilepsy". Neuron. 31 (4): 537–44. doi:10.1016/S0896-6273(01)00397-X. PMID 11545713. S2CID 14468960.
McMillan DR, Kayes-Wandover KM, Richardson JA, White PC (2002). "Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system". J. Biol. Chem. 277 (1): 785–92. doi:10.1074/jbc.M108929200. PMID 11606593.
Nagase T, Kikuno R, Ohara O (2002). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Res. 8 (6): 319–27. doi:10.1093/dnares/8.6.319. PMID 11853319.
Nakayama J, Fu YH, Clark AM, et al. (2002). "A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures". Ann. Neurol. 52 (5): 654–7. doi:10.1002/ana.10347. PMID 12402266. S2CID 36357793.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Weston MD, Luijendijk MW, Humphrey KD, et al. (2004). "Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II". Am. J. Hum. Genet. 74 (2): 357–66. doi:10.1086/381685. PMC 1181933. PMID 14740321.
Bjarnadóttir TK, Fredriksson R, Höglund PJ, et al. (2005). "The human and mouse repertoire of the adhesion family of G-protein-coupled receptors". Genomics. 84 (1): 23–33. doi:10.1016/j.ygeno.2003.12.004. PMID 15203201.
Fu GK, Wang JT, Yang J, et al. (2005). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics. 84 (1): 205–10. doi:10.1016/j.ygeno.2004.01.011. PMID 15203218.
Schwartz SB, Aleman TS, Cideciyan AV, et al. (2005). "Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype". Invest. Ophthalmol. Vis. Sci. 46 (2): 734–43. doi:10.1167/iovs.04-1136. PMID 15671307.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

Vanjski linkovi[uredi | uredi izvor]

GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II

Šablon:G-protein spregnuti receptori

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164199 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000069170 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: GPR98 G protein-coupled receptor 98".

[6] Sun, JP; Li, R; Ren, HZ; Xu, AT; Yu, X; Xu, ZG (maj 2013). "The very large g protein coupled receptor (vlgr1) in hair cells". J Mol Neurosci. 50 (1): 204–14. doi:10.1007/s12031-012-9911-5. PMID 23180093. S2CID 16730555.

[isbn1-4419-7912-3-7] Stacey M, Yona S (2011). AdhesionGPCRs: Structure to Function (Advances in Experimental Medicine and Biology). Berlin: Springer. ISBN 978-1-4419-7912-4.

[8] Whittakera, Charles A.; Bergerone, Karl-Frederik; Whittlec, James; Bruce, P. (2006). "Brandhorste, Robert D. Burked, Richard O. Hynes. The echinoderm adhesome". Developmental Biology. 300 (1): 252–266. doi:10.1016/j.ydbio.2006.07.044. PMC 3565218. PMID 16950242.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]