ID   OTOSP_HUMAN             Reviewed;          89 AA.
AC   Q8NHW6; Q53SW6;
DT   07-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   24-JAN-2024, entry version 119.
DE   RecName: Full=Otospiralin;
DE   Flags: Precursor;
GN   Name=OTOS; Synonyms=OTOSP;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   PubMed=11880501; DOI=10.1523/jneurosci.22-05-01718.2002;
RA   Delprat B., Boulanger A.M., Wang J., Beaudoin V., Guitton M.J., Venteo S.,
RA   Dechesne C.J., Pujol R., Lavigne-Rebillard M., Puel J.-L., Hamel C.P.;
RT   "Down regulation of otospiralin, a novel inner ear protein, causes hair
RT   cell degeneration and deafness.";
RL   J. Neurosci. 22:1718-1725(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-7.
RX   PubMed=12687421; DOI=10.1007/s10048-003-0145-0;
RA   Lavigne-Rebillard M., Delprat B., Surget M.-O., Griffoin J.-M., Weil D.,
RA   Arbones M., Vincent R., Hamel C.P.;
RT   "Gene structure, chromosomal localization, and mutation screening of the
RT   human gene for the inner ear protein otospiralin.";
RL   Neurogenetics 4:137-140(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   4.";
RL   Nature 434:724-731(2005).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
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 project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: May be essential for the survival of the neurosensory
CC       epithelium of the inner ear. {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q8NHW6; Q86Z20: CCDC125; NbExp=3; IntAct=EBI-12038159, EBI-11977221;
CC       Q8NHW6; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12038159, EBI-3867333;
CC       Q8NHW6; Q08AM6: VAC14; NbExp=3; IntAct=EBI-12038159, EBI-2107455;
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- TISSUE SPECIFICITY: Ear specific.
CC   -!- SIMILARITY: Belongs to the otospiralin family. {ECO:0000305}.
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DR   EMBL; AY062256; AAL47489.1; -; Genomic_DNA.
DR   EMBL; AC013469; AAY14739.1; -; Genomic_DNA.
DR   EMBL; BC105085; AAI05086.1; -; mRNA.
DR   EMBL; BC105087; AAI05088.1; -; mRNA.
DR   CCDS; CCDS2533.1; -.
DR   RefSeq; NP_683764.1; NM_148961.3.
DR   RefSeq; XP_016858899.1; XM_017003410.1.
DR   AlphaFoldDB; Q8NHW6; -.
DR   BioGRID; 127314; 3.
DR   IntAct; Q8NHW6; 3.
DR   STRING; 9606.ENSP00000375849; -.
DR   BioMuta; OTOS; -.
DR   PaxDb; 9606-ENSP00000375849; -.
DR   Antibodypedia; 47715; 44 antibodies from 12 providers.
DR   DNASU; 150677; -.
DR   Ensembl; ENST00000319460.2; ENSP00000322486.1; ENSG00000178602.8.
DR   Ensembl; ENST00000391989.6; ENSP00000375849.2; ENSG00000178602.8.
DR   GeneID; 150677; -.
DR   KEGG; hsa:150677; -.
DR   MANE-Select; ENST00000319460.2; ENSP00000322486.1; NM_148961.4; NP_683764.1.
DR   UCSC; uc002vyv.3; human.
DR   AGR; HGNC:22644; -.
DR   CTD; 150677; -.
DR   GeneCards; OTOS; -.
DR   HGNC; HGNC:22644; OTOS.
DR   HPA; ENSG00000178602; Group enriched (pituitary gland, thyroid gland).
DR   MIM; 607877; gene.
DR   neXtProt; NX_Q8NHW6; -.
DR   OpenTargets; ENSG00000178602; -.
DR   PharmGKB; PA134906408; -.
DR   VEuPathDB; HostDB:ENSG00000178602; -.
DR   eggNOG; ENOG502S3R4; Eukaryota.
DR   GeneTree; ENSGT00390000011600; -.
DR   HOGENOM; CLU_170470_0_0_1; -.
DR   InParanoid; Q8NHW6; -.
DR   OMA; YEQINEM; -.
DR   OrthoDB; 4211190at2759; -.
DR   PhylomeDB; Q8NHW6; -.
DR   TreeFam; TF336889; -.
DR   PathwayCommons; Q8NHW6; -.
DR   SignaLink; Q8NHW6; -.
DR   BioGRID-ORCS; 150677; 14 hits in 1131 CRISPR screens.
DR   GenomeRNAi; 150677; -.
DR   Pharos; Q8NHW6; Tdark.
DR   PRO; PR:Q8NHW6; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q8NHW6; Protein.
DR   Bgee; ENSG00000178602; Expressed in pituitary gland and 51 other cell types or tissues.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   GO; GO:0007605; P:sensory perception of sound; IBA:GO_Central.
DR   InterPro; IPR028224; Otospiralin.
DR   PANTHER; PTHR35073; OTOSPIRALIN; 1.
DR   PANTHER; PTHR35073:SF1; OTOSPIRALIN; 1.
DR   Pfam; PF15182; OTOS; 1.
DR   Genevisible; Q8NHW6; HS.
PE   1: Evidence at protein level;
KW   Reference proteome; Secreted; Signal.
FT   SIGNAL          1..21
FT                   /evidence="ECO:0000255"
FT   CHAIN           22..89
FT                   /note="Otospiralin"
FT                   /id="PRO_0000021976"
FT   VARIANT         7
FT                   /note="P -> L (in dbSNP:rs35889242)"
FT                   /evidence="ECO:0000269|PubMed:12687421"
FT                   /id="VAR_020601"
SQ   SEQUENCE   89 AA;  9939 MW;  42637BEBABCC4083 CRC64;
     MQACMVPGLA LCLLLGPLAG AKPVQEEGDP YAELPAMPYW PFSTSDFWNY VQHFQALGAY
     PQIEDMARTF FAHFPLGSTL GFHVPYQED
//