ID OTOP1_DANRE Reviewed; 586 AA. AC Q7ZWK8; Q5MKL8; Q5XJ61; DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot. DT 15-JAN-2008, sequence version 2. DT 22-JUL-2008, entry version 21. DE RecName: Full=Otopetrin-1; GN Name=otop1; OS Danio rerio (Zebrafish) (Brachydanio rerio). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; OC Cyprinidae; Danio. OX NCBI_TaxID=7955; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Embryo; RX MEDLINE=22538355; PubMed=12651873; DOI=10.1093/hmg/ddg087; RA Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X., RA Thalmann I., Thalmann R., Ornitz D.M.; RT "Non-syndromic vestibular disorder with otoconial agenesis in RT tilted/mergulhador mice caused by mutations in otopetrin 1."; RL Hum. Mol. Genet. 12:777-789(2003). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DEVELOPMENTAL STAGE, SUBCELLULAR RP LOCATION, AND CHARACTERIZATION OF MUTANT VAL-429. RX PubMed=15480759; DOI=10.1007/s00427-004-0440-2; RA Soellner C., Schwarz H., Geisler R., Nicolson T.; RT "Mutated otopetrin 1 affects the genesis of otoliths and the RT localization of Starmaker in zebrafish."; RL Dev. Genes Evol. 214:582-590(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Larva; RG NIH - Zebrafish Gene Collection (ZGC) project; RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases. RN [4] RP FUNCTION, DISEASE, AND DEVELOPMENTAL STAGE. RX PubMed=15581873; DOI=10.1016/j.ydbio.2004.09.001; RA Hughes I., Blasiole B., Huss D., Warchol M.E., Rath N.P., Hurle B., RA Ignatova E., Dickman J.D., Thalmann R., Levenson R., Ornitz D.M.; RT "Otopetrin 1 is required for otolith formation in the zebrafish Danio RT rerio."; RL Dev. Biol. 276:391-402(2004). CC -!- FUNCTION: Inhibits P2Y purinoceptors. Modulates calcium CC homeostasis and influx of calcium in response to extracellular ATP CC (By similarity). Essential for the formation of otoliths in the CC inner ear of developing larvae and for the perception of gravity CC and acceleration. CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. CC Secreted, extracellular space (By similarity). CC -!- DEVELOPMENTAL STAGE: First detected in the otic placode at 16.5 CC hours post-fertilization (hpf). Detected in the developing inner CC ear sensory epithelium at 24 hpf. Detected in hair cells of the CC sensory epithelium at 4 days post-fertilization (dpf). At 5 dpf, CC levels are much reduced in the otolith organs, and not detectable CC at 7 dpf. Detected in neuromasts and in the lateral line system at CC 5 dpf and 7 dpf. CC -!- MISCELLANEOUS: Fishes lacking otop1 display the backstroke CC phenotype. Mutant fish exhibit otolith agenesis without additional CC effects on the sensory epithelium or other inner ear structures. CC Otoliths are essential for the perception of gravity and CC acceleration. Larvae without otoliths are unable to orient dorsal CC side up and rest mostly on their side in contact with the ground. CC -!- MISCELLANEOUS: Otoliths are structures composed of proteins and CC calcium carbonate that are found in the fish inner ear in contact CC with the otic epithelium. They are essential for the perception of CC gravity and acceleration. CC -!- SIMILARITY: Belongs to the otopetrin family. CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=Ear of stone - Issue 89 CC of December 2007; CC URL="http://www.expasy.org/spotlight/back_issues/sptlt089.shtml"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AY170648; AAN62756.1; -; mRNA. DR EMBL; AY744157; AAV91780.1; -; mRNA. DR EMBL; BC083445; AAH83445.1; -; mRNA. DR RefSeq; NP_942098.1; -. DR UniGene; Dr.77257; -. DR Ensembl; ENSDARG00000021566; Danio rerio. DR GeneID; 322893; -. DR KEGG; dre:322893; -. DR ZFIN; ZDB-GENE-030131-1613; otop1. DR HOVERGEN; Q7ZWK8; -. DR GO; GO:0042472; P:inner ear morphogenesis; IMP:ZFIN. DR GO; GO:0045299; P:otolith mineralization; IMP:ZFIN. DR InterPro; IPR004878; DUF270. DR PANTHER; PTHR21522; DUF270; 1. PE 1: Evidence at protein level; KW Biomineralization; Membrane; Secreted; Transmembrane. FT CHAIN 1 586 Otopetrin-1. FT /FTId=PRO_0000313819. FT TRANSMEM 54 74 Potential. FT TRANSMEM 86 106 Potential. FT TRANSMEM 124 144 Potential. FT TRANSMEM 146 166 Potential. FT TRANSMEM 195 215 Potential. FT TRANSMEM 260 280 Potential. FT TRANSMEM 303 323 Potential. FT TRANSMEM 342 362 Potential. FT TRANSMEM 519 539 Potential. FT TRANSMEM 551 571 Potential. FT MUTAGEN 429 429 E->V: In backstroke; causes otholith FT agenesis. FT CONFLICT 171 171 T -> A (in Ref. 3; AAH83445). FT CONFLICT 251 252 CS -> WL (in Ref. 1; AAN62756). FT CONFLICT 300 300 S -> T (in Ref. 3; AAH83445). SQ SEQUENCE 586 AA; 65721 MW; 000ED7A4E690831E CRC64; MVEHGGTDSM WLNKYNPAAA SSASSSSSSD AENKLFSRLK VSLTKKYPQK NAELLSAQYG TNLLLLGVSV MLALAAQSGP VKEEHLLSFI TVLMLVQLVW MLCYMIRRER ERSPVPERDA HAGASWIRGG LTMLALLSLI MDAFRIGYFV GYHSCISAAL GVYPIVHALH TISQVHFLWF HIKDVIKKYE TFERFGVIHA VFTNLLLWCN GVMSETEHFM HNHRRRLIEM GYANLSTVDV QPHCNCTTSV CSMFSTSLYY LYPFNIEYHI FVSAMLFVMW KNIGRTLDRH SNRKRRSTGS TGLLLGPLGG LVALASSVSV LVVYLIHLEK TEEMHEAAVS MFYYYGVAMM ACMCVGSGTG LLVYRMENRP MDTGSNPART LDTELLLASS LGSWLMSWCS VVASVAEAGQ KSPSFSWTSL TYSLLLVLEK CIQNLFIVES LYRRHSEEEE DAAAPQVFSV AVPPYDGILN HGYEAHDKHR EAEPAAGSHA LSRKQPDAPL PAGQRLDVTP GRKRQILKNI CMFLFMCNIS LWILPAFGCR PQYDNPLENE TFGTSVWTTV LNVAIPLNLF YRMHSVASLF EVFRKV //