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Q80VM9 (OTOP1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 64. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Otopetrin-1
Gene names
Name:Otop1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length600 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1 Ref.3

Subcellular location

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

Tissue specificity

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

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.

Sequence similarities

Belongs to the otopetrin family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q80VM9-1)

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.
Isoform 2 (identifier: Q80VM9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-190: Missing.
Isoform 3 (identifier: Q80VM9-3)

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

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 600600Otopetrin-1
PRO_0000313817

Regions

Transmembrane65 – 8521Helical; Potential
Transmembrane90 – 11021Helical; Potential
Transmembrane135 – 15521Helical; Potential
Transmembrane166 – 18621Helical; Potential
Transmembrane199 – 21921Helical; Potential
Transmembrane267 – 28721Helical; Potential
Transmembrane309 – 32921Helical; Potential
Transmembrane345 – 36521Helical; Potential
Transmembrane533 – 55321Helical; Potential
Transmembrane564 – 58421Helical; Potential

Natural variations

Alternative sequence1 – 190190Missing in isoform 2.
VSP_030160
Alternative sequence1 – 3535MPGGP…SPPPL → MLTPPETLSAFLAGGFLGCL CLLEGLGCLRIA in isoform 3.
VSP_030161

Experimental info

Mutagenesis1511A → 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. Ref.1
Mutagenesis4081L → 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. Ref.1
Sequence conflict3961A → G in AAO33824. Ref.1
Sequence conflict3961A → G in DAA00897. Ref.1
Sequence conflict3961A → G in DAA00898. Ref.1
Sequence conflict4011L → P in BAC30704. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) (Otopetrin-1a) (Otop1-a) [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: 58C967504061BB0A

FASTA60065,769
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 6A57FFD40B51617E
Show »

FASTA41045,612
Isoform 3 (B) (Otopetrin-1b) (Otop1-b) [UniParc].

Checksum: 251DD7940E380790
Show »

FASTA59765,948

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Protein Spotlight

Ear of stone - Issue 89 of December 2007

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_766297.2. NM_172709.3.
UniGeneMm.204765.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Proteomic databases

PRIDEQ80VM9.

Protocols and materials databases

DNASU21906.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000114099; ENSMUSP00000109734; ENSMUSG00000051596.
GeneID21906.
KEGGmmu:21906.
UCSCuc008xgm.1. mouse. [Q80VM9-1]

Organism-specific databases

CTD133060.
MGIMGI:2388363. Otop1.

Phylogenomic databases

eggNOGNOG265908.
GeneTreeENSGT00530000063198.
HOGENOMHOG000090257.
HOVERGENHBG108223.
InParanoidQ80VM9.
PhylomeDBQ80VM9.
TreeFamTF313428.

Gene expression databases

BgeeQ80VM9.
CleanExMM_OTOP1.
GenevestigatorQ80VM9.

Family and domain databases

InterProIPR004878. Otopetrin.
[Graphical view]
PANTHERPTHR21522. PTHR21522. 1 hit.
PfamPF03189. Otopetrin. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio301444.
PROQ80VM9.
SOURCESearch...

Entry information

Entry nameOTOP1_MOUSE
AccessionPrimary (citable) accession number: Q80VM9
Secondary accession number(s): Q7M735, Q8BRZ4, Q8BS22
Entry history
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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot