[1]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[2]	IDENTIFICATION. DOI=10.1093/hmg/ddg087; PubMed=12651873 [NCBI, ExPASy, EBI, Israel, Japan] Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X., Thalmann I., Thalmann R., Ornitz D.M.; "Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1."; Hum. Mol. Genet. 12:777-789(2003).

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 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Secreted, extracellular space. Note=Detected in the gelatinous membrane overlying the inner ear macular epithelium (By similarity).
MISCELLANEOUS: 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 and acceleration.
SIMILARITY: Belongs to the otopetrin family.
WEB RESOURCE: Name=Protein Spotlight; Note=Ear of stone - Issue 89 of December 2007; URL="http://www.expasy.org/spotlight/back_issues/sptlt089.shtml";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

BC130430; AAI30431.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC130432; AAI30433.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BK000653; DAA00901.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BK000654; DAA00902.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

RefSeq

NP_819056.1; -.

UniGene

Hs.534544

3D structure databases

ModBase

Q7RTM1.

Organism-specific databases

HGNC:19656; OTOP1.

607806; gene. [NCBI / EBI]

PharmGKB

PA134883507; -.

GeneCards

Q7RTM1.

Gene expression databases

ArrayExpress

Q7RTM1; -.

CleanEx

HS_OTOP1; -.

Family and domain databases

InterPro

IPR004878; DUF270.
Graphical view of domain structure.

PANTHER

PTHR21522; DUF270; 1.

BLOCKS

Q7RTM1.

Genome annotation databases

Ensembl

ENSG00000163982; Homo sapiens. [Contig view]

GeneID

133060; -.

KEGG

hsa:133060; -.

Phylogenomic databases

HOGENOM

Q7RTM1; -.

HOVERGEN

Q7RTM1; -.

Other

OTOP1; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Biomineralization; Membrane; Polymorphism; Secreted; Transmembrane.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 612`	`612`	`Otopetrin-1.`	`PRO_0000313816`
`TRANSMEM`	`67 87`	`21`	`Potential.`
`TRANSMEM`	`92 112`	`21`	`Potential.`
`TRANSMEM`	`137 157`	`21`	`Potential.`
`TRANSMEM`	`168 188`	`21`	`Potential.`
`TRANSMEM`	`269 289`	`21`	`Potential.`
`TRANSMEM`	`311 331`	`21`	`Potential.`
`TRANSMEM`	`346 366`	`21`	`Potential.`
`TRANSMEM`	`393 413`	`21`	`Potential.`
`TRANSMEM`	`545 565`	`21`	`Potential.`
`TRANSMEM`	`576 596`	`21`	`Potential.`
`VARIANT`	`241 241`	`1`	`I -> V (in dbSNP:rs28394859 [NCBI]).`	`VAR_037755`
`VARIANT`	`309 309`	`1`	`D -> E (in dbSNP:rs2916414 [NCBI]).`	`VAR_037756`
`VARIANT`	`434 434`	`1`	`V -> M (in dbSNP:rs11736799 [NCBI]).`	`VAR_037757`
`VARIANT`	`493 493`	`1`	`K -> T (in dbSNP:rs34666677 [NCBI]).`	`VAR_037758`
`VARIANT`	`516 516`	`1`	`Q -> H (in dbSNP:rs35106142 [NCBI]).`	`VAR_037759`
`CONFLICT`	`40 40`		`E -> K (in Ref. 1; AAI30431/AAI30433).`

Sequence information

Length: 612 AA [This is the length of the unprocessed precursor]

Molecular weight: 67353 Da [This is the MW of the unprocessed precursor]

CRC64: 7EF5C9F676D20D0F [This is a checksum on the sequence]

        10         20         30         40         50         60 
MLEGLGSPAS PRAAASASVA GSSGPAACSP PSSSAPRSPE SPAPRRGGVR ASVPQKLAEM 

        70         80         90        100        110        120 
LSSQYGLIVF VAGLLLLLAW AVHAAGVSKS DLLCFLTALM LLQLLWMLWY VGRSSAHRRL 

       130        140        150        160        170        180 
FRLKDTHAGA GWLRGSITLF AVITVILGCL KIGYFIGFSE CLSATEGVFP VTHSVHTLLQ 

       190        200        210        220        230        240 
VYFLWGHAKD IIQSFKTLER FGVIHSVFTN LLLWANGVLN ESKHQLNEHK ERLITLGFGN 

       250        260        270        280        290        300 
ITTVLDDHTP QCNCTPPTLC TAISHGIYYL YPFNIEYQIL ASTMLYVLWK NIGRKVDSHQ 

       310        320        330        340        350        360 
HQKMQFKSDG VMVGAVLGLT VLAATIAVVV VYLIHIGRSK TKSESALIMF YLYAITLLML 

       370        380        390        400        410        420 
MGAAGLAGIR IYRIDEKSLD ESKNPARKLD SDLLVGTASG SWLISWGSIL AILCAEGHPR 

       430        440        450        460        470        480 
YTWYNLPYSI LAIVEKYIQN LFIFESIHRE PEKLSEDIQT LRVVTVCNGN TMPLASSCPK 

       490        500        510        520        530        540 
SGGVARDVAP QGKDMPPAAN GNVCMRESHD KEEEKQEESS WGGSPSPVRL PRFLQGNAKR 

       550        560        570        580        590        600 
KVLRNIAAFL FLCNISLWIP PAFGCRPEYD NGLEEIVFGF EPWIIVVNLA MPFSIFYRMH 

       610 
AAASLFEVYC KI

Q7RTM1 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools