GIPC3_HUMAN
ID GIPC3_HUMAN Reviewed; 312 AA.
AC Q8TF64; O75227;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=PDZ domain-containing protein GIPC3;
GN Name=GIPC3; Synonyms=C19orf64;
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 [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=11836571;
RA Saitoh T., Mine T., Katoh M.;
RT "Molecular cloning and characterization of human GIPC3, a novel gene
RT homologous to human GIPC1 and GIPC2.";
RL Int. J. Oncol. 20:577-582(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 VARIANTS DFNB15 ARG-46; ILE-88; ASP-94; CYS-189; ILE-221; ASP-256 AND
RP ARG-262.
RX PubMed=21660509; DOI=10.1007/s00439-011-1018-5;
RA Rehman A.U., Gul K., Morell R.J., Lee K., Ahmed Z.M., Riazuddin S.,
RA Ali R.A., Shahzad M., Jaleel A.U., Andrade P.B., Khan S.N., Khan S.,
RA Brewer C.C., Ahmad W., Leal S.M., Riazuddin S., Friedman T.B.;
RT "Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81
RT that also maps to chromosome 19p.";
RL Hum. Genet. 130:759-765(2011).
RN [5]
RP VARIANT DFNB15 ARG-262.
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. {ECO:0000250}.
CC -!- INTERACTION:
CC Q8TF64; Q9HB19: PLEKHA2; NbExp=3; IntAct=EBI-12372489, EBI-4401947;
CC Q8TF64; Q96JF0-2: ST6GAL2; NbExp=3; IntAct=EBI-12372489, EBI-12908338;
CC -!- TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues.
CC Highest levels are found in jejunum, lymph node, parietal lobe, fetal
CC spleen and fetal thymus. Expressed in cervical, melanoma, chronic
CC myelogenous and gastric cancer cell lines.
CC {ECO:0000269|PubMed:11836571}.
CC -!- DISEASE: Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]: A
CC form of non-syndromic sensorineural hearing loss with prelingual onset.
CC Sensorineural deafness results from damage to the neural receptors of
CC the inner ear, the nerve pathways to the brain, or the area of the
CC brain that receives sound information. {ECO:0000269|PubMed:21326233,
CC ECO:0000269|PubMed:21660509}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the GIPC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC24304.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AB073738; BAB84712.1; -; mRNA.
DR EMBL; AC005175; AAC24304.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC117312; AAI17313.1; -; mRNA.
DR EMBL; BC117314; AAI17315.1; -; mRNA.
DR CCDS; CCDS32871.1; -.
DR PIR; T02669; T02669.
DR RefSeq; NP_573568.1; NM_133261.2.
DR AlphaFoldDB; Q8TF64; -.
DR SMR; Q8TF64; -.
DR BioGRID; 125980; 6.
DR IntAct; Q8TF64; 2.
DR STRING; 9606.ENSP00000319254; -.
DR iPTMnet; Q8TF64; -.
DR PhosphoSitePlus; Q8TF64; -.
DR BioMuta; GIPC3; -.
DR DMDM; 74716119; -.
DR OGP; O75227; -.
DR EPD; Q8TF64; -.
DR jPOST; Q8TF64; -.
DR MassIVE; Q8TF64; -.
DR MaxQB; Q8TF64; -.
DR PaxDb; Q8TF64; -.
DR PeptideAtlas; Q8TF64; -.
DR PRIDE; Q8TF64; -.
DR ProteomicsDB; 74564; -.
DR Antibodypedia; 23268; 146 antibodies from 25 providers.
DR DNASU; 126326; -.
DR Ensembl; ENST00000644452.3; ENSP00000493901.2; ENSG00000179855.9.
DR GeneID; 126326; -.
DR KEGG; hsa:126326; -.
DR MANE-Select; ENST00000644452.3; ENSP00000493901.2; NM_133261.3; NP_573568.1.
DR UCSC; uc002lyd.5; human.
DR CTD; 126326; -.
DR DisGeNET; 126326; -.
DR GeneCards; GIPC3; -.
DR HGNC; HGNC:18183; GIPC3.
DR HPA; ENSG00000179855; Tissue enhanced (retina).
DR MalaCards; GIPC3; -.
DR MIM; 601869; phenotype.
DR MIM; 608792; gene.
DR neXtProt; NX_Q8TF64; -.
DR OpenTargets; ENSG00000179855; -.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR PharmGKB; PA142671736; -.
DR VEuPathDB; HostDB:ENSG00000179855; -.
DR eggNOG; KOG3938; Eukaryota.
DR GeneTree; ENSGT00390000003420; -.
DR HOGENOM; CLU_044527_3_0_1; -.
DR InParanoid; Q8TF64; -.
DR OrthoDB; 1442796at2759; -.
DR PhylomeDB; Q8TF64; -.
DR TreeFam; TF313878; -.
DR PathwayCommons; Q8TF64; -.
DR SignaLink; Q8TF64; -.
DR BioGRID-ORCS; 126326; 11 hits in 1083 CRISPR screens.
DR ChiTaRS; GIPC3; human.
DR GeneWiki; GIPC3; -.
DR GenomeRNAi; 126326; -.
DR Pharos; Q8TF64; Tbio.
DR PRO; PR:Q8TF64; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8TF64; protein.
DR Bgee; ENSG00000179855; Expressed in apex of heart and 104 other tissues.
DR ExpressionAtlas; Q8TF64; baseline and differential.
DR Genevisible; Q8TF64; HS.
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; Non-syndromic deafness; Reference proteome.
FT CHAIN 1..312
FT /note="PDZ domain-containing protein GIPC3"
FT /id="PRO_0000247191"
FT DOMAIN 112..192
FT /note="PDZ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00143"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 17..31
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 46
FT /note="G -> R (in DFNB15; dbSNP:rs946085339)"
FT /evidence="ECO:0000269|PubMed:21660509"
FT /id="VAR_065967"
FT VARIANT 88
FT /note="M -> I (in DFNB15; dbSNP:rs1214652710)"
FT /evidence="ECO:0000269|PubMed:21660509"
FT /id="VAR_065968"
FT VARIANT 94
FT /note="G -> D (in DFNB15; dbSNP:rs763523474)"
FT /evidence="ECO:0000269|PubMed:21660509"
FT /id="VAR_065969"
FT VARIANT 189
FT /note="R -> C (in DFNB15; dbSNP:rs387907002)"
FT /evidence="ECO:0000269|PubMed:21660509"
FT /id="VAR_065970"
FT VARIANT 221
FT /note="T -> I (in DFNB15; dbSNP:rs761543680)"
FT /evidence="ECO:0000269|PubMed:21660509"
FT /id="VAR_065971"
FT VARIANT 256
FT /note="G -> D (in DFNB15; dbSNP:rs387907001)"
FT /evidence="ECO:0000269|PubMed:21660509"
FT /id="VAR_065972"
FT VARIANT 262
FT /note="L -> R (in DFNB15; dbSNP:rs387906999)"
FT /evidence="ECO:0000269|PubMed:21326233,
FT ECO:0000269|PubMed:21660509"
FT /id="VAR_065973"
SQ SEQUENCE 312 AA; 33982 MW; 854F1C8CAAF5AF1B CRC64;
MEGAAAREAR GTETPRASAP PPAPSEPPAA PRARPRLVFR TQLAHGSPTG KIEGFTNVRE
LYAKIAEAFG IAPTEILFCT LNSHKVDMQK LLGGQIGLED FIFAHVRGET KEVEVTKTED
ALGLTITDNG AGYAFIKRIK EGSIINRIEA VCVGDSIEAI NDHSIVGCRH YEVAKMLREL
PKSQPFTLRL VQPKRAFDMI GQRSRSSKCP VEAKVTSGRE TLRLRSGGAA TVEEAPSEFE
EEASRKVDDL LESYMGIRDP ELASTMVETS KKTASAQEFA RCLDSVLGEF AFPDEFVVEV
WAAIGEAREA CG
