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[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), VARIANT TLT GLU-151, MUTANT MLH GLN-408, FUNCTION, DISEASE, AND TISSUE SPECIFICITY.
STRAIN=C57BL/6J;
TISSUE=Otocyst;
DOI=10.1093/hmg/ddg087; PubMed=12651873 [NCBI, ExPASy, EBI, Israel, Japan]
Hurle B.,
Ignatova E.,
Massironi S.M.,
Mashimo T.,
Rios X.,
Thalmann I.,
Thalmann R.,
Ornitz D.M.;
"Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1.";
Hum. Mol. Genet. 12:777-789(2003).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
STRAIN=C57BL/6J;
TISSUE=Aorta, and Vein;
DOI=10.1126/science.1112014; PubMed=16141072 [NCBI, ExPASy, EBI, Israel, Japan]
Carninci P.,
Kasukawa T.,
Katayama S.,
Gough J.,
Frith M.C.,
Maeda N.,
Oyama R.,
Ravasi T.,
Lenhard B.,
Wells C.,
Kodzius R.,
Shimokawa K.,
Bajic V.B.,
Brenner S.E.,
Batalov S.,
Forrest A.R.,
Zavolan M.,
Davis M.J.,
Wilming L.G., ![]()
Aidinis V.,
Allen J.E.,
Ambesi-Impiombato A.,
Apweiler R.,
Aturaliya R.N.,
Bailey T.L.,
Bansal M.,
Baxter L.,
Beisel K.W.,
Bersano T.,
Bono H.,
Chalk A.M.,
Chiu K.P.,
Choudhary V.,
Christoffels A.,
Clutterbuck D.R.,
Crowe M.L.,
Dalla E.,
Dalrymple B.P.,
de Bono B.,
Della Gatta G.,
di Bernardo D.,
Down T.,
Engstrom P.,
Fagiolini M.,
Faulkner G.,
Fletcher C.F.,
Fukushima T.,
Furuno M.,
Futaki S.,
Gariboldi M.,
Georgii-Hemming P.,
Gingeras T.R.,
Gojobori T.,
Green R.E.,
Gustincich S.,
Harbers M.,
Hayashi Y.,
Hensch T.K.,
Hirokawa N.,
Hill D.,
Huminiecki L.,
Iacono M.,
Ikeo K.,
Iwama A.,
Ishikawa T.,
Jakt M.,
Kanapin A.,
Katoh M.,
Kawasawa Y.,
Kelso J.,
Kitamura H.,
Kitano H.,
Kollias G.,
Krishnan S.P.,
Kruger A.,
Kummerfeld S.K.,
Kurochkin I.V.,
Lareau L.F.,
Lazarevic D.,
Lipovich L.,
Liu J.,
Liuni S.,
McWilliam S.,
Madan Babu M.,
Madera M.,
Marchionni L.,
Matsuda H.,
Matsuzawa S.,
Miki H.,
Mignone F.,
Miyake S.,
Morris K.,
Mottagui-Tabar S.,
Mulder N.,
Nakano N.,
Nakauchi H.,
Ng P.,
Nilsson R.,
Nishiguchi S.,
Nishikawa S.,
Nori F.,
Ohara O.,
Okazaki Y.,
Orlando V.,
Pang K.C.,
Pavan W.J.,
Pavesi G.,
Pesole G.,
Petrovsky N.,
Piazza S.,
Reed J.,
Reid J.F.,
Ring B.Z.,
Ringwald M.,
Rost B.,
Ruan Y.,
Salzberg S.L.,
Sandelin A.,
Schneider C.,
Schoenbach C.,
Sekiguchi K.,
Semple C.A.,
Seno S.,
Sessa L.,
Sheng Y.,
Shibata Y.,
Shimada H.,
Shimada K.,
Silva D.,
Sinclair B.,
Sperling S.,
Stupka E.,
Sugiura K.,
Sultana R.,
Takenaka Y.,
Taki K.,
Tammoja K.,
Tan S.L.,
Tang S.,
Taylor M.S.,
Tegner J.,
Teichmann S.A.,
Ueda H.R.,
van Nimwegen E.,
Verardo R.,
Wei C.L.,
Yagi K.,
Yamanishi H.,
Zabarovsky E.,
Zhu S.,
Zimmer A.,
Hide W.,
Bult C.,
Grimmond S.M.,
Teasdale R.D.,
Liu E.T.,
Brusic V.,
Quackenbush J.,
Wahlestedt C.,
Mattick J.S.,
Hume D.A.,
Kai C.,
Sasaki D.,
Tomaru Y.,
Fukuda S.,
Kanamori-Katayama M.,
Suzuki M.,
Aoki J.,
Arakawa T.,
Iida J.,
Imamura K.,
Itoh M.,
Kato T.,
Kawaji H.,
Kawagashira N.,
Kawashima T.,
Kojima M.,
Kondo S.,
Konno H.,
Nakano K.,
Ninomiya N.,
Nishio T.,
Okada M.,
Plessy C.,
Shibata K.,
Shiraki T.,
Suzuki S.,
Tagami M.,
Waki K.,
Watahiki A.,
Okamura-Oho Y.,
Suzuki H.,
Kawai J.,
Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
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[3]
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FUNCTION.
DOI=10.1073/pnas.0705182104; PubMed=17606897 [NCBI, ExPASy, EBI, Israel, Japan]
Hughes I.,
Saito M.,
Schlesinger P.H.,
Ornitz D.M.;
"Otopetrin 1 activation by purinergic nucleotides regulates intracellular calcium.";
Proc. Natl. Acad. Sci. U.S.A. 104:12023-12028(2007).
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- FUNCTION: Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP.
- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Secreted, extracellular space. Note=Detected in the gelatinous membrane overlying the inner ear macular epithelium.
- ALTERNATIVE PRODUCTS:
3 named isoforms [FASTA] produced by alternative splicing.
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| Name | 2 |
| Isoform ID | Q80VM9-2 |
| Features which should be applied to build the isoform sequence: VSP_030160. |
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| Name | 3 |
| Synonyms | B, Otopetrin-1b, Otop1-b |
| Isoform ID | Q80VM9-3 |
| Features which should be applied to build the isoform sequence: VSP_030161. |
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- TISSUE SPECIFICITY: Detected in embryonic inner ear macular epithelia. Detected in thymus, heart, kidney, skin, adrenal gland and lactating mammary gland.
- DISEASE: Defects in Otop1 are the cause of the tilted (tlt) phenotype. Affected mice have defects in the formation of otoconia in the inner ear, but do not suffer from deafness or other inner ear defects. They cannot perceive gravity and have problems with spatial orientation and with keeping their equilibrium. They show typical head-tilting behavior and are unable to swim.
- MISCELLANEOUS: Mice lacking otop1 display the mergulhador (mlh) phenotype. Affected mice have defects in the formation of otoconia in the inner ear, but do not suffer from deafness or other inner ear defects. They cannot perceive gravity and have problems with spatial orientation and with keeping their equilibrium. They show typical head-tilting behavior and are unable to swim.
- MISCELLANEOUS: Otoconia are minute biomineral particles embedded in a gelatinous membrane that overlies the sensory epithelium in the inner ear. Gravity and acceleration cause the octoconia to deflect the stereocilia of sensory hair cells. Otoconia are required for normal processing of information regarding spatial orientation.
- SIMILARITY: Belongs to the otopetrin family.
- WEB RESOURCE: Name=Protein Spotlight; Note=Ear of stone - Issue 89 of December 2007; URL="http://www.expasy.org/spotlight/back_issues/sptlt089.shtml";.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 600 AA [This is the length of the unprocessed precursor] |
Molecular weight: 65769 Da [This is the MW of the unprocessed precursor] |
CRC64: 58C967504061BB0A [This is a checksum on the sequence] |
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10 20 30 40 50 60
MPGGPGAPSS PAASSGSSRA APSGIAACPL SPPPLARGSP QASGPRRGAS VPQKLAETLS
70 80 90 100 110 120
SQYGLNVFVA GLLFLLAWAV HATGVGKSDL LCVLTALMLL QLLWMLWYVG RSYMQRRLIR
130 140 150 160 170 180
PKDTHAGARW LRGSITLFAF ITVVLGCLKV AYFIGFSECL SATEGVFPVT HAVHTLLQVY
190 200 210 220 230 240
FLWGHAKDII MSFKTLERFG VIHSVFTNLL LWANSVLNES KHQLNEHKER LITLGFGNIT
250 260 270 280 290 300
IVLDDHTPQC NCTPPALCSA LSHGIYYLYP FNIEYQILAS TMLYVLWKNI GRRVDSSQHQ
310 320 330 340 350 360
KMQCRFDGVL VGSVLGLTVL AATIAVVVVY MIHIGRSKSK SESALIMFYL YAITVLLLMG
370 380 390 400 410 420
AAGLVGSWIY RVDEKSLDES KNPARKLDVD LLVATASGSW LLSWGSILAI ACAETRPPYT
430 440 450 460 470 480
WYNLPYSVLV IVEKYVQNIF IIESVHLEPE GVPEDVRTLR VVTVCSSEAA ALAASTLGSQ
490 500 510 520 530 540
GMAQDGSPAV NGNLCLQQRC GKEDQESGWE GATGTTRCLD FLQGGMKRRL LRNITAFLFL
550 560 570 580 590 600
CNISLWIPPA FGCRPEYDNG LEEIVFGFEP WIIVVNLAMP FSIFYRMHAA AALFEVYCKI
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Q80VM9 in FASTA format |
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