LOCUS       NM_001080440            1434 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens otolin 1 (OTOL1), mRNA.
ACCESSION   NM_001080440 XM_067228
VERSION     NM_001080440.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1434)
  AUTHORS   Aygun,D., Dumur,S., Elgormus,M.N., Alpaslan,M.S. and Uzun,H.
  TITLE     Serum Otoconin-90 and Otolin-1 Concentrations in Benign Paroxysmal
            Positional Vertigo
  JOURNAL   Biomolecules 14 (10), 1279 (2024)
   PUBMED   39456211
  REMARK    GeneRIF: Serum Otoconin-90 and Otolin-1 Concentrations in Benign
            Paroxysmal Positional Vertigo.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1434)
  AUTHORS   Avallone,E., Schmitt,H., Lilli,G., Warnecke,A.,
            Lesinski-Schiedat,A., Lenarz,T. and Willenborg,K.
  TITLE     A potential serological biomarker for inner ear pathologies:
            OTOLIN-1
  JOURNAL   Acta Otorhinolaryngol Ital 42 (4), 364-371 (2022)
   PUBMED   36254652
  REMARK    GeneRIF: A potential serological biomarker for inner ear
            pathologies: OTOLIN-1.
REFERENCE   3  (bases 1 to 1434)
  AUTHORS   Bielak,K., Holubowicz,R., Zoglowek,A., Zak,A., Kedzierski,P.,
            Ozyhar,A. and Dobryszycki,P.
  TITLE     N'-terminal- and Ca2+-induced stabilization of high-order oligomers
            of full-length Danio rerio and Homo sapiens otolin-1
  JOURNAL   Int J Biol Macromol 209 (Pt A), 1032-1047 (2022)
   PUBMED   35447266
  REMARK    GeneRIF: N'-terminal- and Ca(2+)-induced stabilization of
            high-order oligomers of full-length Danio rerio and Homo sapiens
            otolin-1.
REFERENCE   4  (bases 1 to 1434)
  AUTHORS   Holubowicz,R., Ozyhar,A. and Dobryszycki,P.
  TITLE     Natural Mutations Affect Structure and Function of gC1q Domain of
            Otolin-1
  JOURNAL   Int J Mol Sci 22 (16), 9085 (2021)
   PUBMED   34445792
  REMARK    GeneRIF: Natural Mutations Affect Structure and Function of gC1q
            Domain of Otolin-1.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1434)
  AUTHORS   Moreland,K.T., Hong,M., Lu,W., Rowley,C.W., Ornitz,D.M., De
            Yoreo,J.J. and Thalmann,R.
  TITLE     In vitro calcite crystal morphology is modulated by otoconial
            proteins otolin-1 and otoconin-90
  JOURNAL   PLoS One 9 (4), e95333 (2014)
   PUBMED   24748133
  REMARK    GeneRIF: calcium carbonate crystal growth data demonstrate that
            Otolin-1 and OC90 modulate in vitro calcite crystal morphology but
            neither protein is sufficient to produce the shape of otoconia
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1434)
  AUTHORS   Walter,S., Atzmon,G., Demerath,E.W., Garcia,M.E., Kaplan,R.C.,
            Kumari,M., Lunetta,K.L., Milaneschi,Y., Tanaka,T., Tranah,G.J.,
            Volker,U., Yu,L., Arnold,A., Benjamin,E.J., Biffar,R.,
            Buchman,A.S., Boerwinkle,E., Couper,D., De Jager,P.L., Evans,D.A.,
            Harris,T.B., Hoffmann,W., Hofman,A., Karasik,D., Kiel,D.P.,
            Kocher,T., Kuningas,M., Launer,L.J., Lohman,K.K., Lutsey,P.L.,
            Mackenbach,J., Marciante,K., Psaty,B.M., Reiman,E.M., Rotter,J.I.,
            Seshadri,S., Shardell,M.D., Smith,A.V., van Duijn,C., Walston,J.,
            Zillikens,M.C., Bandinelli,S., Baumeister,S.E., Bennett,D.A.,
            Ferrucci,L., Gudnason,V., Kivimaki,M., Liu,Y., Murabito,J.M.,
            Newman,A.B., Tiemeier,H. and Franceschini,N.
  TITLE     A genome-wide association study of aging
  JOURNAL   Neurobiol Aging 32 (11), 2109 (2011)
   PUBMED   21782286
REFERENCE   7  (bases 1 to 1434)
  AUTHORS   Deans,M.R., Peterson,J.M. and Wong,G.W.
  TITLE     Mammalian Otolin: a multimeric glycoprotein specific to the inner
            ear that interacts with otoconial matrix protein Otoconin-90 and
            Cerebellin-1
  JOURNAL   PLoS One 5 (9), e12765 (2010)
   PUBMED   20856818
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1434)
  AUTHORS   Ghai,R., Waters,P., Roumenina,L.T., Gadjeva,M., Kojouharova,M.S.,
            Reid,K.B., Sim,R.B. and Kishore,U.
  TITLE     C1q and its growing family
  JOURNAL   Immunobiology 212 (4-5), 253-266 (2007)
   PUBMED   17544811
  REMARK    Review article
REFERENCE   9  (bases 1 to 1434)
  AUTHORS   Murayama,E., Herbomel,P., Kawakami,A., Takeda,H. and Nagasawa,H.
  TITLE     Otolith matrix proteins OMP-1 and Otolin-1 are necessary for normal
            otolith growth and their correct anchoring onto the sensory maculae
  JOURNAL   Mech Dev 122 (6), 791-803 (2005)
   PUBMED   15905077
  REMARK    GeneRIF: Identification and functional characterization of a
            similar protein in zebrafish.
REFERENCE   10 (bases 1 to 1434)
  AUTHORS   Kishore,U., Gaboriaud,C., Waters,P., Shrive,A.K., Greenhough,T.J.,
            Reid,K.B., Sim,R.B. and Arlaud,G.J.
  TITLE     C1q and tumor necrosis factor superfamily: modularity and
            versatility
  JOURNAL   Trends Immunol 25 (10), 551-561 (2004)
   PUBMED   15364058
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104471.6.
            
            On Jan 18, 2007 this sequence version replaced XM_067228.8.
            
            Summary: This gene encodes a secreted glycoprotein with a
            C-terminal complement Cq1-like globular domain that belongs to the
            C1q/tumor necrosis factor-related protein (CTRP) family. The
            encoded protein is expressed in the inner ear and forms a
            multimeric complex called the otoconia, together with cerebellin-1
            and otoconin-90, as part of the otoconial membrane. It contains
            extensive posttranslational modifications including hydroxylated
            prolines and glycosylated lysines. Naturally occurring mutations in
            this gene are associated with abnormal otoconia formation and
            balance deficits resulting from vestibular dysfunction. [provided
            by RefSeq, Jul 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DW009679.1, DW009680.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2145544,
                                           SAMEA2154361 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327928.4/ ENSP00000330808.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-364               AC104471.6         119346-119709       c
            365-454             AC104471.6         117257-117346       c
            455-517             AC104471.6         114148-114210       c
            518-1434            AC104471.6         112575-113491       c
FEATURES             Location/Qualifiers
     source          1..1434
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..1434
                     /gene="OTOL1"
                     /gene_synonym="C1QTNF15; C1QTNF16"
                     /note="otolin 1"
                     /db_xref="GeneID:131149"
                     /db_xref="HGNC:HGNC:34071"
     CDS             1..1434
                     /gene="OTOL1"
                     /gene_synonym="C1QTNF15; C1QTNF16"
                     /note="C1q and tumor necrosis factor related protein 15;
                     C1q and TNF related 16"
                     /codon_start=1
                     /product="otolin-1 precursor"
                     /protein_id="NP_001073909.1"
                     /db_xref="CCDS:CCDS46948.1"
                     /db_xref="GeneID:131149"
                     /db_xref="HGNC:HGNC:34071"
                     /translation="MWMFSWLCAILIILAIAGMNTIAKTTPHTKFTKKSEEREMPKGL
                     KPSSGPPPEEEETLFTEMAEMAEPITKPSALDSVFGTATLSPFENFTLDPADFFLNCC
                     DCCSPVPGQKGEPGETGQPGPKGEAGNLGIPGPPGVVGPQGPRGYKGEKGLKGERGDQ
                     GVPGYPGKPGAQGEPGPKGDKGNIGLGGVKGQKGSKGDTCGNCTKGEKGDQGAMGSPG
                     LHGGPGAKGEKGEMGEKGEMGDKGCCGDSGERGGKGQKGEGGMKGEKGSKGDSGMEGK
                     SGRNGLPGAKGDPGIKGEKGELGPPGLLGPTGPKGDIGNKGVRGPTGKKGSRGFKGSK
                     GELARVPRSAFSAGLSKPFPPPNIPIKFEKILYNDQGNYSPVTGKFNCSIPGTYVFSY
                     HITVRGRPARISLVAQNKKQFKSRETLYGQEIDQASLLVILKLSAGDQVWLEVSKDWN
                     GVYVSAEDDSIFTGFLLYPEETSGISP"
     exon            1..364
                     /gene="OTOL1"
                     /gene_synonym="C1QTNF15; C1QTNF16"
                     /inference="alignment:Splign:2.1.0"
     exon            365..454
                     /gene="OTOL1"
                     /gene_synonym="C1QTNF15; C1QTNF16"
                     /inference="alignment:Splign:2.1.0"
     exon            455..517
                     /gene="OTOL1"
                     /gene_synonym="C1QTNF15; C1QTNF16"
                     /inference="alignment:Splign:2.1.0"
     exon            518..1434
                     /gene="OTOL1"
                     /gene_synonym="C1QTNF15; C1QTNF16"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atgtggatgt tttcttggct ttgtgctatt ttaattattt tggctattgc tggtatgaac
       61 acaatagcaa agaccacacc acataccaaa tttacgaaga aatctgagga aagagagatg
      121 ccaaagggtc taaagccatc cagtggccca cctccagaag aagaagaaac cctcttcaca
      181 gaaatggctg aaatggcaga accaattacc aaaccctcgg ccttggattc tgtctttggc
      241 actgccactc tctctccctt tgaaaacttc actcttgacc cagctgattt ctttttgaat
      301 tgttgtgatt gttgttcacc tgtacccggg cagaaaggag aacctggaga gactggacag
      361 ccaggtccta aaggagaggc tggaaatttg gggatcccag ggccaccagg agttgttggg
      421 ccccaaggcc ctagaggcta caaaggagag aaaggactca aaggagaacg tggggaccaa
      481 ggagttccag gatacccagg aaaaccggga gcacaaggtg aacctggccc taagggagat
      541 aaaggaaaca ttggtttggg aggagtgaaa ggacaaaaag gctccaaggg agacacatgt
      601 gggaattgta ccaaaggaga aaaaggagac caaggggcta tgggctcacc tggcctgcac
      661 ggagggcctg gcgccaaggg agagaagggg gagatggggg agaaggggga gatgggggat
      721 aagggctgct gtggagattc tggggagagg ggaggaaaag gacagaaagg tgaggggggt
      781 atgaaagggg aaaaaggtag caaaggagac agtggaatgg aaggcaaaag cggccgtaat
      841 ggtctgcctg gggccaaagg tgatccaggg attaaaggag aaaaaggaga gttaggtcct
      901 cctggtctcc tgggacctac tgggccgaag ggtgacattg gcaacaaagg ggtccgaggc
      961 cccactggga agaagggctc tcggggcttt aaaggctcca agggtgagtt ggctagagtg
     1021 ccccggtcgg ctttcagcgc tggtttgtca aagccatttc ctcctcctaa catccccatc
     1081 aaatttgaaa agattctcta taatgaccaa gggaattaca gtcctgtcac tgggaagttt
     1141 aactgctcta ttcctgggac atatgttttt tcctaccata ttacggtgag ggggcgacct
     1201 gctcgaatca gtctggtggc ccagaataag aagcagttca agtccagaga aactctctat
     1261 ggtcaggaaa tagaccaggc ctctctcctc gtcatcttga aattaagtgc aggagaccaa
     1321 gtctggcttg aggtgtcaaa agattggaat ggggtgtatg tcagtgctga ggatgacagc
     1381 atttttactg ggttcctttt gtacccagag gaaacttctg gaatttcacc ataa
//
