ID   GIPC3_MOUSE             Reviewed;         297 AA.
AC   Q8R5M0;
DT   25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2002, sequence version 1.
DT   03-AUG-2022, entry version 113.
DE   RecName: Full=PDZ domain-containing protein GIPC3;
DE   AltName: Full=Regulator of G-protein signaling 19-interacting protein 3;
GN   Name=Gipc3; Synonyms=Rgs19ip3;
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 [MRNA], AND TISSUE SPECIFICITY.
RC   TISSUE=Kidney;
RX   PubMed=11836631;
RA   Saitoh T., Mine T., Katoh M.;
RT   "Molecular cloning and characterization of mouse Gipc3.";
RL   Int. J. Mol. Med. 9:251-256(2002).
RN   [2]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Lung, and Testis;
RX   PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA   Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA   Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT   "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL   Cell 143:1174-1189(2010).
RN   [3]
RP   FUNCTION, TISSUE SPECIFICITY, DISEASE, AND VARIANT AHL5 ARG-115.
RX   PubMed=21326233; DOI=10.1038/ncomms1200;
RA   Charizopoulou N., Lelli A., Schraders M., Ray K., Hildebrand M.S.,
RA   Ramesh A., Srisailapathy C.R., Oostrik J., Admiraal R.J., Neely H.R.,
RA   Latoche J.R., Smith R.J., Northup J.K., Kremer H., Holt J.R.,
RA   Noben-Trauth K.;
RT   "Gipc3 mutations associated with audiogenic seizures and sensorineural
RT   hearing loss in mouse and human.";
RL   Nat. Commun. 2:201-201(2011).
CC   -!- FUNCTION: Required for postnatal maturation of the hair bundle and
CC       long-term survival of hair cells and spiral ganglion.
CC       {ECO:0000269|PubMed:21326233}.
CC   -!- TISSUE SPECIFICITY: Expressed in adult lung, brain and testis. In the
CC       inner ear, it is expressed in the inner and outer hair cells of the
CC       organ of Corti. Also expressed in cochlear spiral ganglion neurons.
CC       {ECO:0000269|PubMed:11836631, ECO:0000269|PubMed:21326233}.
CC   -!- DISEASE: Note=Defects in GIPC3 underlie the age-related hearing loss 5
CC       (ahl5) and juvenile audiogenic monogenic seizure (jams1) phenotypes.
CC       Ahl5 mice show irregular structure of the stereocilia bundle of outer
CC       and inner hair cells, late-onset degeneration of the organ of Corti.
CC       The spiral ganglion exhibits a severe loss of neurons.
CC       {ECO:0000269|PubMed:21326233}.
CC   -!- SIMILARITY: Belongs to the GIPC family. {ECO:0000305}.
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DR   EMBL; AB074494; BAB84713.1; -; mRNA.
DR   CCDS; CCDS24054.1; -.
DR   RefSeq; NP_683753.1; NM_148951.1.
DR   AlphaFoldDB; Q8R5M0; -.
DR   SMR; Q8R5M0; -.
DR   STRING; 10090.ENSMUSP00000049236; -.
DR   PhosphoSitePlus; Q8R5M0; -.
DR   EPD; Q8R5M0; -.
DR   MaxQB; Q8R5M0; -.
DR   PaxDb; Q8R5M0; -.
DR   PeptideAtlas; Q8R5M0; -.
DR   PRIDE; Q8R5M0; -.
DR   ProteomicsDB; 268824; -.
DR   Antibodypedia; 23268; 146 antibodies from 25 providers.
DR   DNASU; 209047; -.
DR   Ensembl; ENSMUST00000045102; ENSMUSP00000049236; ENSMUSG00000034872.
DR   GeneID; 209047; -.
DR   KEGG; mmu:209047; -.
DR   UCSC; uc007ghi.1; mouse.
DR   CTD; 126326; -.
DR   MGI; MGI:2387006; Gipc3.
DR   VEuPathDB; HostDB:ENSMUSG00000034872; -.
DR   eggNOG; KOG3938; Eukaryota.
DR   GeneTree; ENSGT00390000003420; -.
DR   HOGENOM; CLU_044527_3_0_1; -.
DR   InParanoid; Q8R5M0; -.
DR   OMA; CPMEAKV; -.
DR   OrthoDB; 1442796at2759; -.
DR   PhylomeDB; Q8R5M0; -.
DR   TreeFam; TF313878; -.
DR   BioGRID-ORCS; 209047; 1 hit in 74 CRISPR screens.
DR   ChiTaRS; Gipc3; mouse.
DR   PRO; PR:Q8R5M0; -.
DR   Proteomes; UP000000589; Chromosome 10.
DR   RNAct; Q8R5M0; protein.
DR   Bgee; ENSMUSG00000034872; Expressed in utricle of membranous labyrinth and 34 other tissues.
DR   Genevisible; Q8R5M0; MM.
DR   Gene3D; 2.30.42.10; -; 1.
DR   InterPro; IPR017379; GIPC1/2/3.
DR   InterPro; IPR001478; PDZ.
DR   InterPro; IPR036034; PDZ_sf.
DR   PANTHER; PTHR12259; PTHR12259; 1.
DR   Pfam; PF00595; PDZ; 1.
DR   PIRSF; PIRSF038083; UCP038083_GIPC; 1.
DR   SMART; SM00228; PDZ; 1.
DR   SUPFAM; SSF50156; SSF50156; 1.
DR   PROSITE; PS50106; PDZ; 1.
PE   1: Evidence at protein level;
KW   Deafness; Disease variant; Reference proteome.
FT   CHAIN           1..297
FT                   /note="PDZ domain-containing protein GIPC3"
FT                   /id="PRO_0000247192"
FT   DOMAIN          97..177
FT                   /note="PDZ"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT   VARIANT         115
FT                   /note="G -> R (in ahl5)"
FT                   /evidence="ECO:0000269|PubMed:21326233"
SQ   SEQUENCE   297 AA;  32108 MW;  651CE2FDE70B2D57 CRC64;
     MDSAAPREPG ATEPPARARP RLVFRTQLAH GSPTGRIEGF TNVRELYAKI AEAFGIAPTE
     ILFCTLNSHK VDMQKLLGGQ IGLEDFIFAH VRGETKEVEV TKTEDALGLT ITDNGAGYAF
     IKRIKEGSII NRIEAVCVGD SIEAINDHSI VGCRHYEVAK MLRELPKSQP FTLRLVQPRR
     AFDMIGQRSR SSKCPVEAKV SSGRETLRLR SGGAATVEEA PSDVEAAAAR RVDDLLESYM
     GIRDPELAAA VVETARSSAG AQAFARGLDA VLGEFAFPDE FVVEVWAAIG EAHDACG