OTOP3_HUMAN
ID OTOP3_HUMAN Reviewed; 596 AA.
AC Q7RTS5;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-DEC-2003, sequence version 1.
DT 03-AUG-2022, entry version 120.
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|HGNC:HGNC:19658};
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP IDENTIFICATION.
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 [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-21 AND SER-23, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
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:0000250|UniProtKB:Q80UF9}.
CC -!- INTERACTION:
CC Q7RTS5; P21964: COMT; NbExp=3; IntAct=EBI-12853910, EBI-372265;
CC Q7RTS5; Q15125: EBP; NbExp=3; IntAct=EBI-12853910, EBI-3915253;
CC Q7RTS5; Q96KR6: FAM210B; NbExp=3; IntAct=EBI-12853910, EBI-18938272;
CC Q7RTS5; Q14973: SLC10A1; NbExp=3; IntAct=EBI-12853910, EBI-3923031;
CC Q7RTS5; Q9UKG4: SLC13A4; NbExp=3; IntAct=EBI-12853910, EBI-12808018;
CC Q7RTS5; Q96Q45-2: TMEM237; NbExp=3; IntAct=EBI-12853910, EBI-10982110;
CC Q7RTS5; Q5T4F4: ZFYVE27; NbExp=3; IntAct=EBI-12853910, EBI-3892947;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80VM9};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- SIMILARITY: Belongs to the otopetrin family. {ECO:0000305}.
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DR EMBL; AC087651; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BK000568; DAA00896.1; -; mRNA.
DR CCDS; CCDS11709.1; -.
DR RefSeq; NP_001258934.1; NM_001272005.1.
DR RefSeq; NP_839947.1; NM_178233.2.
DR AlphaFoldDB; Q7RTS5; -.
DR SMR; Q7RTS5; -.
DR BioGRID; 131488; 8.
DR IntAct; Q7RTS5; 7.
DR STRING; 9606.ENSP00000328090; -.
DR TCDB; 1.A.110.1.4; the channel-forming otopetrin (otop) family.
DR iPTMnet; Q7RTS5; -.
DR PhosphoSitePlus; Q7RTS5; -.
DR BioMuta; OTOP3; -.
DR DMDM; 74713144; -.
DR jPOST; Q7RTS5; -.
DR PaxDb; Q7RTS5; -.
DR PeptideAtlas; Q7RTS5; -.
DR PRIDE; Q7RTS5; -.
DR ProteomicsDB; 68893; -.
DR DNASU; 347741; -.
DR GeneID; 347741; -.
DR KEGG; hsa:347741; -.
DR UCSC; uc010wrr.4; human.
DR CTD; 347741; -.
DR GeneCards; OTOP3; -.
DR HGNC; HGNC:19658; OTOP3.
DR MIM; 607828; gene.
DR neXtProt; NX_Q7RTS5; -.
DR PharmGKB; PA134888566; -.
DR eggNOG; KOG4740; Eukaryota.
DR HOGENOM; CLU_032913_0_0_1; -.
DR InParanoid; Q7RTS5; -.
DR OrthoDB; 524642at2759; -.
DR PhylomeDB; Q7RTS5; -.
DR TreeFam; TF313428; -.
DR PathwayCommons; Q7RTS5; -.
DR SignaLink; Q7RTS5; -.
DR BioGRID-ORCS; 347741; 9 hits in 1064 CRISPR screens.
DR GenomeRNAi; 347741; -.
DR Pharos; Q7RTS5; Tdark.
DR PRO; PR:Q7RTS5; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q7RTS5; protein.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0015252; F:proton channel activity; ISS:UniProtKB.
DR GO; GO:1902600; P:proton transmembrane transport; ISS:UniProtKB.
DR InterPro; IPR004878; Otopetrin.
DR InterPro; IPR013087; Znf_C2H2_type.
DR PANTHER; PTHR21522; PTHR21522; 1.
DR Pfam; PF03189; Otopetrin; 3.
PE 1: Evidence at protein level;
KW Cell membrane; Hydrogen ion transport; Ion channel; Ion transport;
KW Membrane; Phosphoprotein; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..596
FT /note="Proton channel OTOP3"
FT /id="PRO_0000313822"
FT TRANSMEM 90..110
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 121..141
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 159..179
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 194..214
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 227..247
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 290..310
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 338..358
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 372..392
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 417..437
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 449..469
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 530..550
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 561..581
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..59
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 40..59
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 21
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 23
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VARIANT 64
FT /note="R -> Q (in dbSNP:rs7210616)"
FT /id="VAR_037762"
FT VARIANT 146
FT /note="R -> Q (in dbSNP:rs9890664)"
FT /id="VAR_037763"
FT VARIANT 199
FT /note="S -> P (in dbSNP:rs1542752)"
FT /id="VAR_037764"
FT VARIANT 477
FT /note="L -> V (in dbSNP:rs35131040)"
FT /id="VAR_062217"
SQ SEQUENCE 596 AA; 66296 MW; 9F9CD30A4DD9CFA4 CRC64;
MGRGARAAAA QSRWGRASRA SVSPGRTIRS APAVGEAQET EAAPEKENRV DVGAEERAAA
TRPRQKSWLV RHFSLLLRRD RQAQKAGQLF SGLLALNVVF LGGAFICSMI FNKVAVTLGD
VWILLATLKV LSLLWLLYYV ASTTRRPHAV LYQDPHAGPL WVRGSLVLFG SCTFCLNIFR
VGYDVSHIRC KSQLDLVFSV IEMVFIGVQT WVLWKHCKDC VRVQTNFTRC GLMLTLATNL
LLWVLAVTND SMHREIEAEL GILMEKSTGN ETNTCLCLNA TACEAFRRGF LMLYPFSTEY
CLICCAVLFV MWKNVGRHVA PHMGAHPATA PFHLHGAIFG PLLGLLVLLA GVCVFVLFQI
EASGPAIACQ YFTLYYAFYV AVLPTMSLAC LAGTAIHGLE ERELDTVKNP TRSLDVVLLM
GAALGQMGIA YFSIVAIVAK RPHELLNRLI LAYSLLLILQ HIAQNLFIIE GLHRRPLWET
VPEGLAGKQE AEPPRRGSLL ELGQGLQRAS LAYIHSYSHL NWKRRALKEI SLFLILCNIT
LWMMPAFGIH PEFENGLEKD FYGYQIWFAI VNFGLPLGVF YRMHSVGGLV EVYLGA
