LOCUS       NM_177998               1981 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens otopetrin 1 (OTOP1), mRNA.
ACCESSION   NM_177998
VERSION     NM_177998.3
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 1981)
  AUTHORS   Li,B., Wang,Y., Castro,A., Ng,C., Wang,Z., Chaudhry,H., Agbaje,Z.,
            Ulloa,G.A. and Yu,Y.
  TITLE     The roles of two extracellular loops in proton sensing and
            permeation in human Otop1 proton channel
  JOURNAL   Commun Biol 5 (1), 1110 (2022)
   PUBMED   36266567
  REMARK    GeneRIF: The roles of two extracellular loops in proton sensing and
            permeation in human Otop1 proton channel.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1981)
  AUTHORS   Tu,Y.H., Cooper,A.J., Teng,B., Chang,R.B., Artiga,D.J.,
            Turner,H.N., Mulhall,E.M., Ye,W., Smith,A.D. and Liman,E.R.
  TITLE     An evolutionarily conserved gene family encodes proton-selective
            ion channels
  JOURNAL   Science 359 (6379), 1047-1050 (2018)
   PUBMED   29371428
REFERENCE   3  (bases 1 to 1981)
  AUTHORS   Wang,G.X., Cho,K.W., Uhm,M., Hu,C.R., Li,S., Cozacov,Z., Xu,A.E.,
            Cheng,J.X., Saltiel,A.R., Lumeng,C.N. and Lin,J.D.
  TITLE     Otopetrin 1 protects mice from obesity-associated metabolic
            dysfunction through attenuating adipose tissue inflammation
  JOURNAL   Diabetes 63 (4), 1340-1352 (2014)
   PUBMED   24379350
REFERENCE   4  (bases 1 to 1981)
  AUTHORS   Kim,E., Hyrc,K.L., Speck,J., Salles,F.T., Lundberg,Y.W.,
            Goldberg,M.P., Kachar,B., Warchol,M.E. and Ornitz,D.M.
  TITLE     Missense mutations in Otopetrin 1 affect subcellular localization
            and inhibition of purinergic signaling in vestibular supporting
            cells
  JOURNAL   Mol Cell Neurosci 46 (3), 655-661 (2011)
   PUBMED   21236346
REFERENCE   5  (bases 1 to 1981)
  AUTHORS   Hughes,I., Binkley,J., Hurle,B., Green,E.D., Sidow,A. and
            Ornitz,D.M.
  CONSRTM   NISC Comparative Sequencing Program
  TITLE     Identification of the Otopetrin Domain, a conserved domain in
            vertebrate otopetrins and invertebrate otopetrin-like family
            members
  JOURNAL   BMC Evol Biol 8, 41 (2008)
   PUBMED   18254951
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1981)
  AUTHORS   Hurle,B., Ignatova,E., Massironi,S.M., Mashimo,T., Rios,X.,
            Thalmann,I., Thalmann,R. and Ornitz,D.M.
  TITLE     Non-syndromic vestibular disorder with otoconial agenesis in
            tilted/mergulhador mice caused by mutations in otopetrin 1
  JOURNAL   Hum Mol Genet 12 (7), 777-789 (2003)
   PUBMED   12651873
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011744.8, BK000653.1 and
            BC130432.1.
            
            On Dec 30, 2019 this sequence version replaced NM_177998.2.
            
            Summary: This gene encodes a transmembrane protein which belongs to
            the otopetrin domain protein family and is required for the
            formation of otoconia and otoliths, calcium carbonate biominerals
            within the inner ear of mammals that are required for the detection
            of linear acceleration and gravity. This gene modulates purinergic
            control of intracellular calcium in vestibular supporting cells.
            Naturally occurring mutations in the orthologous mouse gene are
            associated with nonsyndromic otoconia agenesis and a consequent
            balance defect. The orthologous mouse gene is also induced in white
            adipose tissue during obesity. The encoded protein is a component
            of a counterinflammatory pathway that attenuates obesity-induced
            adipose tissue inflammation and plays an adaptive role in
            maintaining metabolic homeostasis in obesity. [provided by RefSeq,
            Jul 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC130432.1, BK000653.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968968,
                                           SAMEA2145893 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296358.5/ ENSP00000296358.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AC011744.8         104150-104184       c
            36-1904             BK000653.1         1-1869
            1905-1981           BC130432.1         1865-1941
FEATURES             Location/Qualifiers
     source          1..1981
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..1981
                     /gene="OTOP1"
                     /note="otopetrin 1"
                     /db_xref="GeneID:133060"
                     /db_xref="HGNC:HGNC:19656"
                     /db_xref="MIM:607806"
     exon            1..468
                     /gene="OTOP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1904
                     /gene="OTOP1"
                     /codon_start=1
                     /product="proton channel OTOP1"
                     /protein_id="NP_819056.1"
                     /db_xref="CCDS:CCDS3372.1"
                     /db_xref="GeneID:133060"
                     /db_xref="HGNC:HGNC:19656"
                     /db_xref="MIM:607806"
                     /translation="MLEGLGSPASPRAAASASVAGSSGPAACSPPSSSAPRSPESPAP
                     RRGGVRASVPQKLAEMLSSQYGLIVFVAGLLLLLAWAVHAAGVSKSDLLCFLTALMLL
                     QLLWMLWYVGRSSAHRRLFRLKDTHAGAGWLRGSITLFAVITVILGCLKIGYFIGFSE
                     CLSATEGVFPVTHSVHTLLQVYFLWGHAKDIIQSFKTLERFGVIHSVFTNLLLWANGV
                     LNESKHQLNEHKERLITLGFGNITTVLDDHTPQCNCTPPTLCTAISHGIYYLYPFNIE
                     YQILASTMLYVLWKNIGRKVDSHQHQKMQFKSDGVMVGAVLGLTVLAATIAVVVVYLI
                     HIGRSKTKSESALIMFYLYAITLLMLMGAAGLAGIRIYRIDEKSLDESKNPARKLDSD
                     LLVGTASGSWLISWGSILAILCAEGHPRYTWYNLPYSILAIVEKYIQNLFIFESIHRE
                     PEKLSEDIQTLRVVTVCNGNTMPLASSCPKSGGVARDVAPQGKDMPPAANGNVCMRES
                     HDKEEEKQEESSWGGSPSPVRLPRFLQGNAKRKVLRNIAAFLFLCNISLWIPPAFGCR
                     PEYDNGLEEIVFGFEPWIIVVNLAMPFSIFYRMHAAASLFEVYCKI"
     exon            469..605
                     /gene="OTOP1"
                     /inference="alignment:Splign:2.1.0"
     exon            606..664
                     /gene="OTOP1"
                     /inference="alignment:Splign:2.1.0"
     exon            665..795
                     /gene="OTOP1"
                     /inference="alignment:Splign:2.1.0"
     exon            796..1733
                     /gene="OTOP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1981
                     /gene="OTOP1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aggagcgcag gcggggcccg acggcagcca cccccgggac cagacttggc gcgggtgtct
       61 cgaagatgct cgagggcctg gggtcgcccg cctcgccccg ggcagctgca agcgcctcgg
      121 tcgcagggtc gtcggggcca gcggcctgct cgcctccctc gtcctcggcc ccgaggtccc
      181 cggaatcccc ggccccccgg cggggcggtg tgcgcgccag cgtcccacag aaactggccg
      241 agatgctgag cagccagtat gggctgatcg tgttcgtggc ggggctgctg ctgctgctgg
      301 cctgggccgt gcacgccgcg ggcgtgagca agagcgacct gctgtgcttc ctgacggcgc
      361 tcatgctgct gcagctgctg tggatgctgt ggtacgtggg ccgcagctcc gcgcaccgcc
      421 gcctcttccg cctcaaggac acgcacgcgg gtgccggctg gctgcgcggt agtatcacat
      481 tgtttgcagt cattaccgtc atcctgggat gccttaaaat tggatacttc attggatttt
      541 cagaatgttt atcagccact gaaggagttt tcccagtcac ccattcagtg catactttgt
      601 tgcaggtata ttttctttgg gggcatgcaa aggatattat ccagtctttc aaaacactgg
      661 aaaggtttgg agtgatccac tcggtgttca ccaacctgct tctgtgggcc aatggcgtcc
      721 tcaatgagtc aaagcaccaa ctcaatgagc acaaggaacg gctcatcact ctgggttttg
      781 ggaacataac aacagtttta gatgaccaca caccgcagtg taactgcacg cccccaactc
      841 tgtgcactgc catctcccac gggatctact acctctaccc cttcaacata gagtatcaga
      901 tcctggcctc cacaatgctc tacgtcctgt ggaagaacat cgggcgcaaa gttgacagcc
      961 atcagcacca gaagatgcag ttcaagtctg atggggtcat ggtgggcgca gtcctgggcc
     1021 tgaccgtgct ggccgccacc attgctgtgg tggtggtata cctgattcat attgggcgct
     1081 ccaagaccaa gagcgagtcg gcactcatca tgttctacct gtatgccatc accctgctga
     1141 tgcttatggg ggctgcgggg ctggctggaa tccggattta caggatagac gagaagtcac
     1201 tggatgagtc caaaaatccg gcccgcaaac tggactcgga cctcttggtg ggcactgcct
     1261 cgggctcctg gcttatctcc tggggctcaa tcttggccat cctctgtgct gagggccacc
     1321 cccgctacac ctggtacaac ctgccctact ccatcctggc gatcgtggag aagtacatcc
     1381 agaacctctt catctttgaa tccattcacc gagagcctga aaaactctct gaggacatcc
     1441 aaacccttcg ggtggtcaca gtctgcaatg gcaacaccat gccccttgct tcttcctgcc
     1501 ccaagagtgg aggtgtggcc agagatgtgg ctccccaggg caaggacatg ccaccagcag
     1561 ccaatggaaa tgtgtgcatg agagaaagcc atgacaagga ggaggagaag caggaggaga
     1621 gcagctgggg agggagccca agcccagtcc gccttccccg tttcttacag ggcaacgcca
     1681 agagaaaagt cctgaggaat attgcagcct tcttgttcct ctgcaatatt tcgctttgga
     1741 tacctcccgc ctttggctgt cgacctgagt atgacaatgg attggaggag attgtctttg
     1801 gctttgaacc ctggataatt gtggtcaacc tggccatgcc tttttctatt ttctatcgaa
     1861 tgcacgcagc tgcctccctc tttgaggtct attgtaagat atagtctggg tccacaagag
     1921 acctaggagt gagctaacaa gagttcattg gagccaacta ggagtggcca ggttgggcaa
     1981 a
//
