OTOR_HUMAN
ID OTOR_HUMAN Reviewed; 128 AA.
AC Q9NRC9; D3DW22; Q3MIU6;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Otoraplin;
DE AltName: Full=Fibrocyte-derived protein;
DE AltName: Full=Melanoma inhibitory activity-like protein;
DE Flags: Precursor;
GN Name=OTOR; Synonyms=FDP, MIAL; ORFNames=UNQ3054/PRO9873;
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 [MRNA].
RC TISSUE=Cochlea;
RX PubMed=10873378; DOI=10.1006/geno.2000.6224;
RA Robertson N.G., Heller S., Lin J.S., Resendes B.L., Weremowicz S.,
RA Denis C.S., Bell A.M., Hudspeth A.J., Morton C.C.;
RT "A novel conserved cochlear gene, OTOR: identification, expression
RT analysis, and chromosomal mapping.";
RL Genomics 66:242-248(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=10998416; DOI=10.1074/jbc.m002876200;
RA Cohen-Salmon M., Frenz D., Liu W., Verpy E., Voegeling S., Petit C.;
RT "Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in
RT vitro effect on the early differentiation of the inner ear mesenchyme.";
RL J. Biol. Chem. 275:40036-40041(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain, and Cochlea;
RX PubMed=11161796; DOI=10.1006/geno.2000.6409;
RA Rendtorff N.D., Frodin M., Attie-Bitach T., Vekemans M., Tommerup N.;
RT "Identification and characterization of an inner ear-expressed human
RT melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent
RT polymorphism that abolishes translation.";
RL Genomics 71:40-52(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT PRO-31.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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).
RN [8]
RP PROTEIN SEQUENCE OF 18-32.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
CC -!- INTERACTION:
CC Q9NRC9; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-18311020, EBI-18304435;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Highly expressed in cochlea.
CC -!- SIMILARITY: Belongs to the MIA/OTOR family. {ECO:0000305}.
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DR EMBL; AF233261; AAF82078.1; -; mRNA.
DR EMBL; AF243505; AAG42356.1; -; mRNA.
DR EMBL; AJ242552; CAC27443.1; -; mRNA.
DR EMBL; AJ252324; CAC28085.1; -; Genomic_DNA.
DR EMBL; AJ252325; CAC28085.1; JOINED; Genomic_DNA.
DR EMBL; AJ252326; CAC28085.1; JOINED; Genomic_DNA.
DR EMBL; AJ252327; CAC28085.1; JOINED; Genomic_DNA.
DR EMBL; AY359082; AAQ89441.1; -; mRNA.
DR EMBL; AL034428; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471133; EAX10282.1; -; Genomic_DNA.
DR EMBL; CH471133; EAX10283.1; -; Genomic_DNA.
DR EMBL; BC101688; AAI01689.1; -; mRNA.
DR EMBL; BC101690; AAI01691.1; -; mRNA.
DR CCDS; CCDS13124.1; -.
DR RefSeq; NP_064542.1; NM_020157.3.
DR AlphaFoldDB; Q9NRC9; -.
DR SMR; Q9NRC9; -.
DR BioGRID; 121242; 1.
DR IntAct; Q9NRC9; 2.
DR STRING; 9606.ENSP00000246081; -.
DR iPTMnet; Q9NRC9; -.
DR PhosphoSitePlus; Q9NRC9; -.
DR BioMuta; OTOR; -.
DR DMDM; 13124388; -.
DR MassIVE; Q9NRC9; -.
DR PaxDb; Q9NRC9; -.
DR PeptideAtlas; Q9NRC9; -.
DR PRIDE; Q9NRC9; -.
DR ProteomicsDB; 82336; -.
DR Antibodypedia; 9190; 66 antibodies from 21 providers.
DR DNASU; 56914; -.
DR Ensembl; ENST00000246081.3; ENSP00000246081.3; ENSG00000125879.5.
DR GeneID; 56914; -.
DR KEGG; hsa:56914; -.
DR MANE-Select; ENST00000246081.3; ENSP00000246081.3; NM_020157.4; NP_064542.1.
DR UCSC; uc002wpj.5; human.
DR CTD; 56914; -.
DR DisGeNET; 56914; -.
DR GeneCards; OTOR; -.
DR HGNC; HGNC:8517; OTOR.
DR HPA; ENSG00000125879; Not detected.
DR MIM; 606067; gene.
DR neXtProt; NX_Q9NRC9; -.
DR OpenTargets; ENSG00000125879; -.
DR PharmGKB; PA32843; -.
DR VEuPathDB; HostDB:ENSG00000125879; -.
DR eggNOG; ENOG502S18Q; Eukaryota.
DR GeneTree; ENSGT00950000182767; -.
DR HOGENOM; CLU_158739_0_1_1; -.
DR InParanoid; Q9NRC9; -.
DR OMA; LCADDDC; -.
DR OrthoDB; 1421159at2759; -.
DR PhylomeDB; Q9NRC9; -.
DR TreeFam; TF332724; -.
DR PathwayCommons; Q9NRC9; -.
DR SignaLink; Q9NRC9; -.
DR BioGRID-ORCS; 56914; 8 hits in 1057 CRISPR screens.
DR ChiTaRS; OTOR; human.
DR GeneWiki; OTOR; -.
DR GenomeRNAi; 56914; -.
DR Pharos; Q9NRC9; Tbio.
DR PRO; PR:Q9NRC9; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9NRC9; protein.
DR Bgee; ENSG00000125879; Expressed in cochlea and 15 other tissues.
DR Genevisible; Q9NRC9; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0001502; P:cartilage condensation; IBA:GO_Central.
DR GO; GO:0007605; P:sensory perception of sound; TAS:ProtInc.
DR CDD; cd11891; MIAL; 1.
DR InterPro; IPR042801; OTOR.
DR InterPro; IPR035554; Otoraplin_SH3.
DR InterPro; IPR036028; SH3-like_dom_sf.
DR InterPro; IPR001452; SH3_domain.
DR PANTHER; PTHR47146; PTHR47146; 1.
DR Pfam; PF07653; SH3_2; 1.
DR SMART; SM00326; SH3; 1.
DR SUPFAM; SSF50044; SSF50044; 1.
DR PROSITE; PS50002; SH3; 1.
PE 1: Evidence at protein level;
KW Direct protein sequencing; Disulfide bond; Reference proteome; Secreted;
KW SH3 domain; Signal.
FT SIGNAL 1..17
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 18..128
FT /note="Otoraplin"
FT /id="PRO_0000019033"
FT DOMAIN 39..110
FT /note="SH3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT DISULFID 32..37
FT /evidence="ECO:0000250"
FT DISULFID 55..127
FT /evidence="ECO:0000250"
FT VARIANT 31
FT /note="L -> P (in dbSNP:rs6135876)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_024537"
SQ SEQUENCE 128 AA; 14332 MW; 9BB52C7F5D4FB700 CRC64;
MARILLLFLP GLVAVCAVHG IFMDRLASKK LCADDECVYT ISLASAQEDY NAPDCRFINV
KKGQQIYVYS KLVKENGAGE FWAGSVYGDG QDEMGVVGYF PRNLVKEQRV YQEATKEVPT
TDIDFFCE
