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 27-NOV-2024, entry version 123. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 7. DR IntAct; Q8NHW6; 3. DR STRING; 9606.ENSP00000375849; -. DR BioMuta; OTOS; -. DR PaxDb; 9606-ENSP00000375849; -. DR Antibodypedia; 47715; 36 antibodies from 11 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. 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 //