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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.

Topology

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

GO - Cellular componenti

  1. extracellular space Source: UniProtKB-SubCell
  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-1
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the otopetrin family.

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 190190Missing in isoform 2.
VSP_030160Add
BLAST
Alternative sequencei1 – 3535MPGGP…SPPPL → MLTPPETLSAFLAGGFLGCL CLLEGLGCLRIA in isoform 3.
VSP_030161Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti396 – 3961A → G in AAO33824. 1 Publication
Sequence conflicti396 – 3961A → G in DAA00897. 1 Publication
Sequence conflicti396 – 3961A → G in DAA00898. 1 Publication
Sequence conflicti401 – 4011L → P in BAC30704. 1 Publication

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...

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

« 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: April 16, 2014
This is version 64 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

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