OTOP3_MOUSE
ID OTOP3_MOUSE Reviewed; 577 AA.
AC Q80UF9; A2A6S7; B9EKA4; Q7M736; Q810B4;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 95.
DE RecName: Full=Proton channel OTOP3 {ECO:0000305};
DE AltName: Full=Otopetrin-3 {ECO:0000303|PubMed:12651873};
GN Name=Otop3 {ECO:0000303|PubMed:12651873, ECO:0000312|MGI:MGI:1916852};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Brain;
RA Kikkawa Y., Shitara H., Kohara Y., Takada T., Okamoto M., Taya C.,
RA Wakana S., Kamiya K., Yoshikawa Y., Tokano H., Kitamura K., Shimizu K.,
RA Shiroishi T., Wakabayashi Y., Kominami R., Yonekawa H.;
RT "Mutations in a new protein containing ankyrin repeats and SAM domain cause
RT deafness in Jackson shaker mice, a model for Usher syndrome type IG.";
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
RN [4]
RP IDENTIFICATION (ISOFORM 2).
RX PubMed=12651873; DOI=10.1093/hmg/ddg087;
RA Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X., Thalmann I.,
RA Thalmann R., Ornitz D.M.;
RT "Non-syndromic vestibular disorder with otoconial agenesis in
RT tilted/mergulhador mice caused by mutations in otopetrin 1.";
RL Hum. Mol. Genet. 12:777-789(2003).
RN [5]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=29371428; DOI=10.1126/science.aao3264;
RA Tu Y.H., Cooper A.J., Teng B., Chang R.B., Artiga D.J., Turner H.N.,
RA Mulhall E.M., Ye W., Smith A.D., Liman E.R.;
RT "An evolutionarily conserved gene family encodes proton-selective ion
RT channels.";
RL Science 359:1047-1050(2018).
CC -!- FUNCTION: Proton-selective channel that specifically transports protons
CC into cells. Proton-selective channel activity is probably required in
CC cell types that use changes in intracellular pH for cell signaling or
CC to regulate biochemical or developmental processes.
CC {ECO:0000269|PubMed:29371428}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80VM9};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q80UF9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q80UF9-2; Sequence=VSP_030162;
CC -!- TISSUE SPECIFICITY: Expressed in epidermis, small intestine, stomach
CC and retina. {ECO:0000269|PubMed:29371428}.
CC -!- SIMILARITY: Belongs to the otopetrin family. {ECO:0000305}.
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DR EMBL; AB087501; BAC57428.1; -; Genomic_DNA.
DR EMBL; AB087505; BAC67685.1; -; mRNA.
DR EMBL; AL603828; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC150803; AAI50804.1; -; mRNA.
DR EMBL; BK000630; DAA00892.1; -; mRNA.
DR CCDS; CCDS25629.1; -. [Q80UF9-2]
DR CCDS; CCDS83926.1; -. [Q80UF9-1]
DR RefSeq; NP_001334576.1; NM_001347647.1. [Q80UF9-1]
DR AlphaFoldDB; Q80UF9; -.
DR SMR; Q80UF9; -.
DR STRING; 10090.ENSMUSP00000019006; -.
DR iPTMnet; Q80UF9; -.
DR PhosphoSitePlus; Q80UF9; -.
DR PaxDb; Q80UF9; -.
DR PRIDE; Q80UF9; -.
DR ProteomicsDB; 294400; -. [Q80UF9-1]
DR ProteomicsDB; 294401; -. [Q80UF9-2]
DR Antibodypedia; 19484; 84 antibodies from 20 providers.
DR DNASU; 69602; -.
DR Ensembl; ENSMUST00000106543; ENSMUSP00000102153; ENSMUSG00000018862. [Q80UF9-1]
DR GeneID; 69602; -.
DR KEGG; mmu:69602; -.
DR UCSC; uc007mhf.1; mouse. [Q80UF9-1]
DR CTD; 347741; -.
DR MGI; MGI:1916852; Otop3.
DR VEuPathDB; HostDB:ENSMUSG00000018862; -.
DR eggNOG; KOG4740; Eukaryota.
DR GeneTree; ENSGT00940000160638; -.
DR HOGENOM; CLU_032913_0_0_1; -.
DR InParanoid; Q80UF9; -.
DR PhylomeDB; Q80UF9; -.
DR BioGRID-ORCS; 69602; 2 hits in 72 CRISPR screens.
DR PRO; PR:Q80UF9; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q80UF9; protein.
DR Bgee; ENSMUSG00000018862; Expressed in duodenum and 26 other tissues.
DR ExpressionAtlas; Q80UF9; baseline and differential.
DR Genevisible; Q80UF9; MM.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; ISS:MGI.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0015252; F:proton channel activity; IDA:UniProtKB.
DR GO; GO:1902600; P:proton transmembrane transport; IDA:UniProtKB.
DR InterPro; IPR004878; Otopetrin.
DR PANTHER; PTHR21522; PTHR21522; 1.
DR Pfam; PF03189; Otopetrin; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Hydrogen ion transport; Ion channel;
KW Ion transport; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..577
FT /note="Proton channel OTOP3"
FT /id="PRO_0000313823"
FT TRANSMEM 71..91
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 102..122
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 140..160
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 175..195
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 208..228
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 272..292
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 319..339
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 353..373
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 398..418
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 430..450
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 511..531
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 551..571
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 247..248
FT /note="KF -> KLSVLQCRTCLRCCLFLPYLL (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_030162"
FT CONFLICT 242
FT /note="D -> N (in Ref. 1; BAC67685)"
FT /evidence="ECO:0000305"
FT CONFLICT 279
FT /note="T -> S (in Ref. 1; BAC57428)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 577 AA; 64743 MW; 264894A6F2CA0A90 CRC64;
MASQTSAPAE PAPMPSPEAK TTEGASSYDQ ADMETKHAGS PCPPKQKSWL ARHFSLLLRR
DRQAQKAGQL FSGLLALNVV FLGGAFICSM IFNKVSVTLG DVWILLAALK VLSLLWLLYY
TVGTTRKPHA VLYRDPHAGP IWVRGSLVLF GSCTVCLNIF RMGYDVSHIH CKSEVELIFP
AIEIVFMIIQ TWVLWRHCKD CVQVQTNFTR CGLMLTLATN LLMWVLAVTN DSMHREIEAE
LDALMEKFSG NGTNTCMCLN TTVCEVFRKG YLMLYPFSTE YCLICCAVLF VMWKNVSRSL
AAHTGAHPNR SPFRLHGTIF GPLLGLLALV AGVCVFVLFQ IEASGPDIAR QYFTLYYAFY
VAVLPTMSLA CLAGTAIHGL EERELDTLKN PTRSLDVVLL MGAALGQMGI AYFSIVAIVA
TQPHELLNQL ILAYSLLLIL QHITQNLFII EGLHRRPLWE PAVSGVMEKQ DVELPRRGSL
RELGQDLRRA SRAYIHSFSH LNWKRRMLKE ISLFLILCNI TLWMMPAFGI HPEFENGLEK
DFYGYRTWFT IVNFGLPLGV FYRMHSVGGL VEVYLGA
