ID   OTOP1_HUMAN             Reviewed;         612 AA.
AC   Q7RTM1; A1L476;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   15-DEC-2003, sequence version 1.
DT   22-JUL-2008, entry version 23.
DE   RecName: Full=Otopetrin-1;
GN   Name=OTOP1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [2]
RP   IDENTIFICATION.
RX   MEDLINE=22538355; PubMed=12651873; DOI=10.1093/hmg/ddg087;
RA   Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X.,
RA   Thalmann I., Thalmann R., Ornitz D.M.;
RT   "Non-syndromic vestibular disorder with otoconial agenesis in
RT   tilted/mergulhador mice caused by mutations in otopetrin 1.";
RL   Hum. Mol. Genet. 12:777-789(2003).
CC   -!- FUNCTION: Required for normal formation of otoconia in the inner
CC       ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and
CC       influx of calcium in response to extracellular ATP (By
CC       similarity).
CC   -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC       Secreted, extracellular space. Note=Detected in the gelatinous
CC       membrane overlying the inner ear macular epithelium (By
CC       similarity).
CC   -!- MISCELLANEOUS: Otoconia are minute biomineral particles embedded
CC       in a gelatinous membrane that overlies the sensory epithelium in
CC       the inner ear. Gravity and acceleration cause the octoconia to
CC       deflect the stereocilia of sensory hair cells. Otoconia are
CC       required for normal processing of information regarding spatial
CC       orientation and acceleration.
CC   -!- SIMILARITY: Belongs to the otopetrin family.
CC   -!- WEB RESOURCE: Name=Protein Spotlight; Note=Ear of stone - Issue 89
CC       of December 2007;
CC       URL="http://www.expasy.org/spotlight/back_issues/sptlt089.shtml";
CC   -----------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution-NoDerivs License
CC   -----------------------------------------------------------------------
DR   EMBL; BC130430; AAI30431.1; -; mRNA.
DR   EMBL; BC130432; AAI30433.1; -; mRNA.
DR   EMBL; BK000653; DAA00901.1; -; mRNA.
DR   EMBL; BK000654; DAA00902.1; -; Genomic_DNA.
DR   RefSeq; NP_819056.1; -.
DR   UniGene; Hs.534544; -.
DR   Ensembl; ENSG00000163982; Homo sapiens.
DR   GeneID; 133060; -.
DR   KEGG; hsa:133060; -.
DR   HGNC; HGNC:19656; OTOP1.
DR   MIM; 607806; gene.
DR   PharmGKB; PA134883507; -.
DR   HOGENOM; Q7RTM1; -.
DR   HOVERGEN; Q7RTM1; -.
DR   ArrayExpress; Q7RTM1; -.
DR   CleanEx; HS_OTOP1; -.
DR   InterPro; IPR004878; DUF270.
DR   PANTHER; PTHR21522; DUF270; 1.
PE   2: Evidence at transcript level;
KW   Biomineralization; Membrane; Polymorphism; Secreted; Transmembrane.
FT   CHAIN         1    612       Otopetrin-1.
FT                                /FTId=PRO_0000313816.
FT   TRANSMEM     67     87       Potential.
FT   TRANSMEM     92    112       Potential.
FT   TRANSMEM    137    157       Potential.
FT   TRANSMEM    168    188       Potential.
FT   TRANSMEM    269    289       Potential.
FT   TRANSMEM    311    331       Potential.
FT   TRANSMEM    346    366       Potential.
FT   TRANSMEM    393    413       Potential.
FT   TRANSMEM    545    565       Potential.
FT   TRANSMEM    576    596       Potential.
FT   VARIANT     241    241       I -> V (in dbSNP:rs28394859).
FT                                /FTId=VAR_037755.
FT   VARIANT     309    309       D -> E (in dbSNP:rs2916414).
FT                                /FTId=VAR_037756.
FT   VARIANT     434    434       V -> M (in dbSNP:rs11736799).
FT                                /FTId=VAR_037757.
FT   VARIANT     493    493       K -> T (in dbSNP:rs34666677).
FT                                /FTId=VAR_037758.
FT   VARIANT     516    516       Q -> H (in dbSNP:rs35106142).
FT                                /FTId=VAR_037759.
FT   CONFLICT     40     40       E -> K (in Ref. 1; AAI30431/AAI30433).
SQ   SEQUENCE   612 AA;  67353 MW;  7EF5C9F676D20D0F CRC64;
     MLEGLGSPAS PRAAASASVA GSSGPAACSP PSSSAPRSPE SPAPRRGGVR ASVPQKLAEM
     LSSQYGLIVF VAGLLLLLAW AVHAAGVSKS DLLCFLTALM LLQLLWMLWY VGRSSAHRRL
     FRLKDTHAGA GWLRGSITLF AVITVILGCL KIGYFIGFSE CLSATEGVFP VTHSVHTLLQ
     VYFLWGHAKD IIQSFKTLER FGVIHSVFTN LLLWANGVLN ESKHQLNEHK ERLITLGFGN
     ITTVLDDHTP QCNCTPPTLC TAISHGIYYL YPFNIEYQIL ASTMLYVLWK NIGRKVDSHQ
     HQKMQFKSDG VMVGAVLGLT VLAATIAVVV VYLIHIGRSK TKSESALIMF YLYAITLLML
     MGAAGLAGIR IYRIDEKSLD ESKNPARKLD SDLLVGTASG SWLISWGSIL AILCAEGHPR
     YTWYNLPYSI LAIVEKYIQN LFIFESIHRE PEKLSEDIQT LRVVTVCNGN TMPLASSCPK
     SGGVARDVAP QGKDMPPAAN GNVCMRESHD KEEEKQEESS WGGSPSPVRL PRFLQGNAKR
     KVLRNIAAFL FLCNISLWIP PAFGCRPEYD NGLEEIVFGF EPWIIVVNLA MPFSIFYRMH
     AAASLFEVYC KI
//