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Q80VM9

- OTOP1_MOUSE

UniProt

Q80VM9 - OTOP1_MOUSE

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Protein

Otopetrin-1

Gene

Otop1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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 region Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: MGI
Complete GO annotation...

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.
ExpressionAtlasiQ80VM9. baseline and differential.
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

        10         20         30         40         50
MPGGPGAPSS PAASSGSSRA APSGIAACPL SPPPLARGSP QASGPRRGAS
60 70 80 90 100
VPQKLAETLS SQYGLNVFVA GLLFLLAWAV HATGVGKSDL LCVLTALMLL
110 120 130 140 150
QLLWMLWYVG RSYMQRRLIR PKDTHAGARW LRGSITLFAF ITVVLGCLKV
160 170 180 190 200
AYFIGFSECL SATEGVFPVT HAVHTLLQVY FLWGHAKDII MSFKTLERFG
210 220 230 240 250
VIHSVFTNLL LWANSVLNES KHQLNEHKER LITLGFGNIT IVLDDHTPQC
260 270 280 290 300
NCTPPALCSA LSHGIYYLYP FNIEYQILAS TMLYVLWKNI GRRVDSSQHQ
310 320 330 340 350
KMQCRFDGVL VGSVLGLTVL AATIAVVVVY MIHIGRSKSK SESALIMFYL
360 370 380 390 400
YAITVLLLMG AAGLVGSWIY RVDEKSLDES KNPARKLDVD LLVATASGSW
410 420 430 440 450
LLSWGSILAI ACAETRPPYT WYNLPYSVLV IVEKYVQNIF IIESVHLEPE
460 470 480 490 500
GVPEDVRTLR VVTVCSSEAA ALAASTLGSQ GMAQDGSPAV NGNLCLQQRC
510 520 530 540 550
GKEDQESGWE GATGTTRCLD FLQGGMKRRL LRNITAFLFL CNISLWIPPA
560 570 580 590 600
FGCRPEYDNG LEEIVFGFEP WIIVVNLAMP FSIFYRMHAA AALFEVYCKI
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.
ExpressionAtlasi Q80VM9. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 66 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