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Q80VM9

- OTOP1_MOUSE

UniProt

Q80VM9 - OTOP1_MOUSE

Protein

Otopetrin-1

Gene

Otop1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 65 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Functioni

    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.2 Publications

    GO - Biological processi

    1. biomineral tissue development Source: UniProtKB-KW
    2. detection of gravity Source: MGI
    3. inner ear morphogenesis Source: MGI

    Keywords - Biological processi

    Biomineralization

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Otopetrin-1
    Gene namesi
    Name:Otop1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 5

    Organism-specific databases

    MGIiMGI:2388363. Otop1.

    Subcellular locationi

    Membrane; Multi-pass membrane protein. Secretedextracellular space
    Note: Detected in the gelatinous membrane overlying the inner ear macular epithelium.

    GO - Cellular componenti

    1. extracellular space Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: MGI

    Keywords - Cellular componenti

    Membrane, Secreted

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi151 – 1511A → E in tlt (tilted 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. 1 Publication
    Mutagenesisi408 – 4081L → Q in mlh (mergulhador 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 swima. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 600600Otopetrin-1PRO_0000313817Add
    BLAST

    Proteomic databases

    PRIDEiQ80VM9.

    Expressioni

    Tissue specificityi

    Detected in embryonic inner ear macular epithelia. Detected in thymus, heart, kidney, skin, adrenal gland and lactating mammary gland.1 Publication

    Gene expression databases

    BgeeiQ80VM9.
    CleanExiMM_OTOP1.
    GenevestigatoriQ80VM9.

    Structurei

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei65 – 8521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei90 – 11021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei135 – 15521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei166 – 18621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei199 – 21921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei267 – 28721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei309 – 32921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei345 – 36521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei533 – 55321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei564 – 58421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the otopetrin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG265908.
    GeneTreeiENSGT00530000063198.
    HOGENOMiHOG000090257.
    HOVERGENiHBG108223.
    InParanoidiQ80VM9.
    PhylomeDBiQ80VM9.
    TreeFamiTF313428.

    Family and domain databases

    InterProiIPR004878. Otopetrin.
    [Graphical view]
    PANTHERiPTHR21522. PTHR21522. 1 hit.
    PfamiPF03189. Otopetrin. 3 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q80VM9-1) [UniParc]FASTAAdd to Basket

    Also known as: A, Otopetrin-1a, Otop1-a

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPGGPGAPSS PAASSGSSRA APSGIAACPL SPPPLARGSP QASGPRRGAS    50
    VPQKLAETLS SQYGLNVFVA GLLFLLAWAV HATGVGKSDL LCVLTALMLL 100
    QLLWMLWYVG RSYMQRRLIR PKDTHAGARW LRGSITLFAF ITVVLGCLKV 150
    AYFIGFSECL SATEGVFPVT HAVHTLLQVY FLWGHAKDII MSFKTLERFG 200
    VIHSVFTNLL LWANSVLNES KHQLNEHKER LITLGFGNIT IVLDDHTPQC 250
    NCTPPALCSA LSHGIYYLYP FNIEYQILAS TMLYVLWKNI GRRVDSSQHQ 300
    KMQCRFDGVL VGSVLGLTVL AATIAVVVVY MIHIGRSKSK SESALIMFYL 350
    YAITVLLLMG AAGLVGSWIY RVDEKSLDES KNPARKLDVD LLVATASGSW 400
    LLSWGSILAI ACAETRPPYT WYNLPYSVLV IVEKYVQNIF IIESVHLEPE 450
    GVPEDVRTLR VVTVCSSEAA ALAASTLGSQ GMAQDGSPAV NGNLCLQQRC 500
    GKEDQESGWE GATGTTRCLD FLQGGMKRRL LRNITAFLFL CNISLWIPPA 550
    FGCRPEYDNG LEEIVFGFEP WIIVVNLAMP FSIFYRMHAA AALFEVYCKI 600
    Length:600
    Mass (Da):65,769
    Last modified:January 15, 2008 - v2
    Checksum:i58C967504061BB0A
    GO
    Isoform 2 (identifier: Q80VM9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-190: Missing.

    Show »
    Length:410
    Mass (Da):45,612
    Checksum:i6A57FFD40B51617E
    GO
    Isoform 3 (identifier: Q80VM9-3) [UniParc]FASTAAdd to Basket

    Also known as: B, Otopetrin-1b, Otop1-b

    The sequence of this isoform differs from the canonical sequence as follows:
         1-35: MPGGPGAPSSPAASSGSSRAAPSGIAACPLSPPPL → MLTPPETLSAFLAGGFLGCLCLLEGLGCLRIA

    Show »
    Length:597
    Mass (Da):65,948
    Checksum:i251DD7940E380790
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti396 – 3961A → G in AAO33824. (PubMed:12651873)Curated
    Sequence conflicti396 – 3961A → G in DAA00897. (PubMed:12651873)Curated
    Sequence conflicti396 – 3961A → G in DAA00898. (PubMed:12651873)Curated
    Sequence conflicti401 – 4011L → P in BAC30704. (PubMed:16141072)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 190190Missing in isoform 2. 1 PublicationVSP_030160Add
    BLAST
    Alternative sequencei1 – 3535MPGGP…SPPPL → MLTPPETLSAFLAGGFLGCL CLLEGLGCLRIA in isoform 3. 1 PublicationVSP_030161Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF548337 mRNA. Translation: AAO33824.1.
    BK000650 Genomic DNA. Translation: DAA00897.1.
    BK000650 Genomic DNA. Translation: DAA00898.1.
    AK040792 mRNA. Translation: BAC30704.1.
    AK041023 mRNA. Translation: BAC30785.1.
    RefSeqiNP_766297.2. NM_172709.3.
    UniGeneiMm.204765.

    Genome annotation databases

    EnsembliENSMUST00000114099; ENSMUSP00000109734; ENSMUSG00000051596.
    GeneIDi21906.
    KEGGimmu:21906.
    UCSCiuc008xgm.1. mouse. [Q80VM9-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Ear of stone - Issue 89 of December 2007

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF548337 mRNA. Translation: AAO33824.1 .
    BK000650 Genomic DNA. Translation: DAA00897.1 .
    BK000650 Genomic DNA. Translation: DAA00898.1 .
    AK040792 mRNA. Translation: BAC30704.1 .
    AK041023 mRNA. Translation: BAC30785.1 .
    RefSeqi NP_766297.2. NM_172709.3.
    UniGenei Mm.204765.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Proteomic databases

    PRIDEi Q80VM9.

    Protocols and materials databases

    DNASUi 21906.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000114099 ; ENSMUSP00000109734 ; ENSMUSG00000051596 .
    GeneIDi 21906.
    KEGGi mmu:21906.
    UCSCi uc008xgm.1. mouse. [Q80VM9-1 ]

    Organism-specific databases

    CTDi 133060.
    MGIi MGI:2388363. Otop1.

    Phylogenomic databases

    eggNOGi NOG265908.
    GeneTreei ENSGT00530000063198.
    HOGENOMi HOG000090257.
    HOVERGENi HBG108223.
    InParanoidi Q80VM9.
    PhylomeDBi Q80VM9.
    TreeFami TF313428.

    Miscellaneous databases

    NextBioi 301444.
    PROi Q80VM9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q80VM9.
    CleanExi MM_OTOP1.
    Genevestigatori Q80VM9.

    Family and domain databases

    InterProi IPR004878. Otopetrin.
    [Graphical view ]
    PANTHERi PTHR21522. PTHR21522. 1 hit.
    Pfami PF03189. Otopetrin. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1."
      Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X., Thalmann I., Thalmann R., Ornitz D.M.
      Hum. Mol. Genet. 12:777-789(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), FUNCTION, TISSUE SPECIFICITY, MUTAGENESIS OF ALA-151 AND LEU-408.
      Strain: C57BL/6J.
      Tissue: Otocyst.
    2. "The transcriptional landscape of the mammalian genome."
      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.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Strain: C57BL/6J.
      Tissue: Aorta and Vein.
    3. "Otopetrin 1 activation by purinergic nucleotides regulates intracellular calcium."
      Hughes I., Saito M., Schlesinger P.H., Ornitz D.M.
      Proc. Natl. Acad. Sci. U.S.A. 104:12023-12028(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiOTOP1_MOUSE
    AccessioniPrimary (citable) accession number: Q80VM9
    Secondary accession number(s): Q7M735, Q8BRZ4, Q8BS22
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 65 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    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.
    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.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3