Q80VM9 (OTOP1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Otopetrin-1

Gene names

Name:

Otop1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	600 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Secreted › extracellular 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.

Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Membrane Secreted
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	biomineral tissue development Inferred from electronic annotation. Source: UniProtKB-KW detection of gravity Inferred from mutant phenotype Ref.1. Source: MGI inner ear morphogenesis Inferred from mutant phenotype Ref.1. Source: MGI
Cellular_component	extracellular space Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW membrane Inferred from direct assay Ref.1. Source: MGI
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 600	600	Otopetrin-1		PRO_0000313817
Regions
	Transmembrane	65 – 85	21	Helical; Potential
	Transmembrane	90 – 110	21	Helical; Potential
	Transmembrane	135 – 155	21	Helical; Potential
	Transmembrane	166 – 186	21	Helical; Potential
	Transmembrane	199 – 219	21	Helical; Potential
	Transmembrane	267 – 287	21	Helical; Potential
	Transmembrane	309 – 329	21	Helical; Potential
	Transmembrane	345 – 365	21	Helical; Potential
	Transmembrane	533 – 553	21	Helical; Potential
	Transmembrane	564 – 584	21	Helical; Potential
Natural variations
	Alternative sequence	1 – 190	190	Missing in isoform 2.		VSP_030160
	Alternative sequence	1 – 35	35	MPGGP…SPPPL → MLTPPETLSAFLAGGFLGCL CLLEGLGCLRIA in isoform 3.		VSP_030161
Experimental info
	Mutagenesis	151	1	A → 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
	Mutagenesis	408	1	L → 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 conflict	396	1	A → G in AAO33824. Ref.1
	Sequence conflict	396	1	A → G in DAA00897. Ref.1
	Sequence conflict	396	1	A → G in DAA00898. Ref.1
	Sequence conflict	401	1	L → P in BAC30704. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) (Otopetrin-1a) (Otop1-a) [UniParc]. Last modified January 15, 2008. Version 2. Checksum: 58C967504061BB0A	FASTA	600	65,769
	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
	Isoform 2 [UniParc]. Checksum: 6A57FFD40B51617E	FASTA	410	45,612
	10 20 30 40 50 60 MSFKTLERFG VIHSVFTNLL LWANSVLNES KHQLNEHKER LITLGFGNIT IVLDDHTPQC 70 80 90 100 110 120 NCTPPALCSA LSHGIYYLYP FNIEYQILAS TMLYVLWKNI GRRVDSSQHQ KMQCRFDGVL 130 140 150 160 170 180 VGSVLGLTVL AATIAVVVVY MIHIGRSKSK SESALIMFYL YAITVLLLMG AAGLVGSWIY 190 200 210 220 230 240 RVDEKSLDES KNPARKLDVD LLVATASGSW LLSWGSILAI ACAETRPPYT WYNLPYSVLV 250 260 270 280 290 300 IVEKYVQNIF IIESVHLEPE GVPEDVRTLR VVTVCSSEAA ALAASTLGSQ GMAQDGSPAV 310 320 330 340 350 360 NGNLCLQQRC GKEDQESGWE GATGTTRCLD FLQGGMKRRL LRNITAFLFL CNISLWIPPA 370 380 390 400 410 FGCRPEYDNG LEEIVFGFEP WIIVVNLAMP FSIFYRMHAA AALFEVYCKI
	Isoform 3 (B) (Otopetrin-1b) (Otop1-b) [UniParc]. Checksum: 251DD7940E380790	FASTA	597	65,948
	10 20 30 40 50 60 MLTPPETLSA FLAGGFLGCL CLLEGLGCLR IAARGSPQAS GPRRGASVPQ KLAETLSSQY 70 80 90 100 110 120 GLNVFVAGLL FLLAWAVHAT GVGKSDLLCV LTALMLLQLL WMLWYVGRSY MQRRLIRPKD 130 140 150 160 170 180 THAGARWLRG SITLFAFITV VLGCLKVAYF IGFSECLSAT EGVFPVTHAV HTLLQVYFLW 190 200 210 220 230 240 GHAKDIIMSF KTLERFGVIH SVFTNLLLWA NSVLNESKHQ LNEHKERLIT LGFGNITIVL 250 260 270 280 290 300 DDHTPQCNCT PPALCSALSH GIYYLYPFNI EYQILASTML YVLWKNIGRR VDSSQHQKMQ 310 320 330 340 350 360 CRFDGVLVGS VLGLTVLAAT IAVVVVYMIH IGRSKSKSES ALIMFYLYAI TVLLLMGAAG 370 380 390 400 410 420 LVGSWIYRVD EKSLDESKNP ARKLDVDLLV ATASGSWLLS WGSILAIACA ETRPPYTWYN 430 440 450 460 470 480 LPYSVLVIVE KYVQNIFIIE SVHLEPEGVP EDVRTLRVVT VCSSEAAALA ASTLGSQGMA 490 500 510 520 530 540 QDGSPAVNGN LCLQQRCGKE DQESGWEGAT GTTRCLDFLQ GGMKRRLLRN ITAFLFLCNI 550 560 570 580 590 SLWIPPAFGC RPEYDNGLEE IVFGFEPWII VVNLAMPFSI FYRMHAAAAL FEVYCKI

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00224403. IPI00867832. IPI00881381.
RefSeq	NP_766297.2. NM_172709.3.
UniGene	Mm.204765.
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q80VM9.
Protocols and materials databases
DNASU	21906.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000114099; ENSMUSP00000109734; ENSMUSG00000051596.
GeneID	21906.
KEGG	mmu:21906.
UCSC	uc008xgm.1. mouse. uc012dvn.1. mouse.
Organism-specific databases
CTD	133060.
MGI	MGI:2388363. Otop1.
Phylogenomic databases
eggNOG	NOG265908.
GeneTree	ENSGT00530000063198.
HOGENOM	HOG000090257.
HOVERGEN	HBG108223.
InParanoid	Q80VM9.
OrthoDB	EOG415GD7.
Gene expression databases
ArrayExpress	Q80VM9.
Bgee	Q80VM9.
CleanEx	MM_OTOP1.
Genevestigator	Q80VM9.
Family and domain databases
InterPro	IPR004878. Otopetrin. [Graphical view]
PANTHER	PTHR21522. PTHR21522. 1 hit.
Pfam	PF03189. Otopetrin. 3 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	301444.
SOURCE	Search...

Entry information

Entry name

OTOP1_MOUSE

Accession

Primary (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 3, 2013
This is version 57 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program