LOCUS       NM_133261               4410 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens GIPC PDZ domain containing family member 3 (GIPC3),
            transcript variant 1, mRNA.
ACCESSION   NM_133261 XM_001722785 XM_001726165 XM_001726185
VERSION     NM_133261.3
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 4410)
  AUTHORS   Petrova,N.V., Marakhonov,A.V., Balinova,N.V., Abrukova,A.V.,
            Konovalov,F.A., Kutsev,S.I. and Zinchenko,R.A.
  TITLE     Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent
            Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in
            Chuvash Population
  JOURNAL   Genes (Basel) 12 (6), 820 (2021)
   PUBMED   34071867
  REMARK    GeneRIF: Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a
            Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing
            Loss in Chuvash Population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4410)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4410)
  AUTHORS   Kalaimathi,M., Subathra,M., Jeffrey,J.M., Selvakumari,M.,
            Chandru,J., Sharanya,N., Paridhy,V.S. and Srisailapathy,C.R.S.
  TITLE     Low incidence of GIPC3 variants among the prelingual hearing
            impaired from southern India
  JOURNAL   J Genet 99 (2020)
   PUBMED   33168789
  REMARK    GeneRIF: Low incidence of GIPC3 variants among the prelingual
            hearing impaired from southern India.
REFERENCE   4  (bases 1 to 4410)
  AUTHORS   Asgharzade,S., Tabatabaiefar,M.A., Mohammadi-Asl,J. and
            Chaleshtori,M.H.
  TITLE     A novel missense mutation in GIPC3 causes sensorineural hearing
            loss in an Iranian family revealed by targeted next-generation
            sequencing
  JOURNAL   Int J Pediatr Otorhinolaryngol 108, 8-11 (2018)
   PUBMED   29605370
  REMARK    GeneRIF: This study is the first report of the contribution of
            theGIPC3 gene to hearing loss in the Iranian population
REFERENCE   5  (bases 1 to 4410)
  AUTHORS   Siddiqi,S., Ismail,M., Oostrik,J., Munawar,S., Mansoor,A.,
            Kremer,H., Qamar,R. and Schraders,M.
  TITLE     A canonical splice site mutation in GIPC3 causes sensorineural
            hearing loss in a large Pakistani family
  JOURNAL   J Hum Genet 59 (12), 683-686 (2014)
   PUBMED   25296581
  REMARK    GeneRIF: This study expands the mutational spectrum of GIPC3 in
            autosomal recessive nonsyndromic hearing impairment.
REFERENCE   6  (bases 1 to 4410)
  AUTHORS   Matsuoka,S., Ballif,B.A., Smogorzewska,A., McDonald,E.R. 3rd,
            Hurov,K.E., Luo,J., Bakalarski,C.E., Zhao,Z., Solimini,N.,
            Lerenthal,Y., Shiloh,Y., Gygi,S.P. and Elledge,S.J.
  TITLE     ATM and ATR substrate analysis reveals extensive protein networks
            responsive to DNA damage
  JOURNAL   Science 316 (5828), 1160-1166 (2007)
   PUBMED   17525332
REFERENCE   7  (bases 1 to 4410)
  AUTHORS   Grimwood,J., Gordon,L.A., Olsen,A., Terry,A., Schmutz,J.,
            Lamerdin,J., Hellsten,U., Goodstein,D., Couronne,O.,
            Tran-Gyamfi,M., Aerts,A., Altherr,M., Ashworth,L., Bajorek,E.,
            Black,S., Branscomb,E., Caenepeel,S., Carrano,A., Caoile,C.,
            Chan,Y.M., Christensen,M., Cleland,C.A., Copeland,A., Dalin,E.,
            Dehal,P., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Garcia,C., Georgescu,A.M., Glavina,T., Gomez,M.,
            Gonzales,E., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Ho,I.,
            Huang,W., Israni,S., Jett,J., Kadner,K., Kimball,H., Kobayashi,A.,
            Larionov,V., Leem,S.H., Lopez,F., Lou,Y., Lowry,S., Malfatti,S.,
            Martinez,D., McCready,P., Medina,C., Morgan,J., Nelson,K.,
            Nolan,M., Ovcharenko,I., Pitluck,S., Pollard,M., Popkie,A.P.,
            Predki,P., Quan,G., Ramirez,L., Rash,S., Retterer,J., Rodriguez,A.,
            Rogers,S., Salamov,A., Salazar,A., She,X., Smith,D., Slezak,T.,
            Solovyev,V., Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N.,
            Wagner,M., Wheeler,J., Wu,K., Xie,G., Yang,J., Dubchak,I.,
            Furey,T.S., DeJong,P., Dickson,M., Gordon,D., Eichler,E.E.,
            Pennacchio,L.A., Richardson,P., Stubbs,L., Rokhsar,D.S.,
            Myers,R.M., Rubin,E.M. and Lucas,S.M.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   8  (bases 1 to 4410)
  AUTHORS   Katoh,M.
  TITLE     GIPC gene family (Review)
  JOURNAL   Int J Mol Med 9 (6), 585-589 (2002)
   PUBMED   12011974
  REMARK    Review article
REFERENCE   9  (bases 1 to 4410)
  AUTHORS   Saitoh,T., Mine,T. and Katoh,M.
  TITLE     Molecular cloning and characterization of human GIPC3, a novel gene
            homologous to human GIPC1 and GIPC2
  JOURNAL   Int J Oncol 20 (3), 577-582 (2002)
   PUBMED   11836571
  REMARK    GeneRIF: Molecular cloning and characterization of human GIPC3, a
            novel gene homologous to human GIPC1 and GIPC2
REFERENCE   10 (bases 1 to 4410)
  AUTHORS   Chen,A., Wayne,S., Bell,A., Ramesh,A., Srisailapathy,C.R.,
            Scott,D.A., Sheffield,V.C., Van Hauwe,P., Zbar,R.I., Ashley,J.,
            Lovett,M., Van Camp,G. and Smith,R.J.
  TITLE     New gene for autosomal recessive non-syndromic hearing loss maps to
            either chromosome 3q or 19p
  JOURNAL   Am J Med Genet 71 (4), 467-471 (1997)
   PUBMED   9286457
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC116968.2 and AB073738.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_133261.2.
            
            Summary: The protein encoded by this gene belongs to the GIPC
            family. Studies in mice suggest that this gene is required for
            postnatal maturation of the hair bundle and long-term survival of
            hair cells and spiral ganglion in the ear. Mutations in this gene
            are associated with autosomal recessive deafness. [provided by
            RefSeq, Dec 2011].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB073738.1, BC117314.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644452.3/ ENSP00000493901.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                AC116968.2         8204-8296
            94-1204             AB073738.1         1-1111
            1205-4410           AC116968.2         13062-16267
FEATURES             Location/Qualifiers
     source          1..4410
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..4410
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /note="GIPC PDZ domain containing family member 3"
                     /db_xref="GeneID:126326"
                     /db_xref="HGNC:HGNC:18183"
                     /db_xref="MIM:608792"
     exon            1..345
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..1059
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /note="isoform 1 is encoded by transcript variant 1; PDZ
                     domain-containing protein GIPC3"
                     /codon_start=1
                     /product="PDZ domain-containing protein GIPC3 isoform 1"
                     /protein_id="NP_573568.1"
                     /db_xref="CCDS:CCDS32871.1"
                     /db_xref="GeneID:126326"
                     /db_xref="HGNC:HGNC:18183"
                     /db_xref="MIM:608792"
                     /translation="MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLA
                     HGSPTGKIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFI
                     FAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAI
                     NDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSG
                     RETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASA
                     QEFARCLDSVLGEFAFPDEFVVEVWAAIGEAREACG"
     exon            346..531
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /inference="alignment:Splign:2.1.0"
     exon            532..712
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /inference="alignment:Splign:2.1.0"
     exon            713..825
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /inference="alignment:Splign:2.1.0"
     exon            826..907
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /inference="alignment:Splign:2.1.0"
     exon            908..4410
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4386..4391
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /note="hexamer: AATAAA"
     polyA_site      4410
                     /gene="GIPC3"
                     /gene_synonym="C19orf64; DFNB15; DFNB72; DFNB95"
                     /note="major polyA site"
ORIGIN      
        1 gatcccctta cccgggcgtc tcggctgtcg cgccctgggc cgggggaggg gaggctgcag
       61 gaagcggcgg atccggcggc ggcggcgagg gcccgggtgg gtggccgaac ttctcccgcc
      121 atggagggag cagcggcccg ggaggcccgg gggaccgaga ccccgcgcgc gtctgcgccc
      181 ccgcccgcgc cctcggagcc cccggccgcg ccccgcgccc gcccgcgcct cgtcttccgc
      241 acgcagctgg cgcacgggag ccccacgggc aagatcgagg gcttcaccaa cgtccgcgag
      301 ctgtacgcca agatcgccga agccttcggg atcgcgccca ccgagatttt attctgcacc
      361 ctcaacagcc acaaagtgga catgcagaag ctcctggggg gtcagatagg cctggaggac
      421 ttcatctttg cccacgtgcg aggcgagacc aaggaggtgg aggtcactaa gacagaggat
      481 gctctggggc tgaccatcac ggacaacggg gctggctacg ccttcatcaa gagaatcaag
      541 gaaggcagta tcatcaaccg gatcgaggca gtgtgcgtgg gtgacagcat cgaagccatc
      601 aacgaccact ccattgtggg ctgccgccac tacgaggtgg ccaagatgct ccgggagctg
      661 cccaagtccc agcccttcac cctgcgcctg gtgcagccca agagggcctt cgatatgatt
      721 ggccagagaa gtcggtccag caaatgtcca gtagaggcga aagtgaccag cgggagggag
      781 accctgcggc ttcgttctgg gggggctgcc acagtggagg aagcgcccag tgagtttgag
      841 gaggaggcat ctcggaaggt tgatgacctg ctggaaagct acatgggcat tcgggacccc
      901 gagctggcgt ccaccatggt ggagacgtcc aagaagacag cgagcgccca ggagtttgca
      961 cgctgtttag actccgtctt gggcgagttc gccttccccg acgagtttgt ggtggaagtg
     1021 tgggccgcca tcggcgaggc cagagaggcc tgtggctagt ttgccctggg ggggcccagc
     1081 acagccccag cccggagccc agccccctgc cccggccctg ctccagaacc cagcccagat
     1141 cggaggacaa gttcctctct agaacccaat ccaatttgga gccccagccc aactccagaa
     1201 cccaaccctt ctctagaatc cagcccagat ctgaggccaa gctatgtgct agagcccagg
     1261 ccagctctga gaccaagccc agcattgaga ataagctctg ttctaaaact caggccagcc
     1321 ctgagaccaa gcccagctct agaactcaga tgagctttga gaccatgccc agcactgaga
     1381 ccaagccctg ttctagaact caggcctgct ctgaggccaa gcccagctct agaacccaga
     1441 tgagctctga gaccatgccc agctctagaa ctcagatggg ctctgagacc atgcccagct
     1501 ctagaactca gatgggctct gagaccgagc ccagctctag aactcagatg ggctctgaga
     1561 ccgagcccag ctctaaaact cagatgggct ctgagaccat gcccagctct agaactcaga
     1621 tgggctctga gaccgagccc agctctagaa ctcagatggg ctctgagacc gagcccagct
     1681 ctagaactca gatgggctct gagaccatgc ccagctctag aactcagatg ggctccgaga
     1741 ccaagcccag ctctagaacc cagatgagct ctgagaccat gcccagctct agaactcaga
     1801 tgagctctga gacagagccc agtattgaga ccaagccctg ttctagagtc caggccagct
     1861 ccgagaccaa gcccagctct agaacccaga taagctctga aaccaagccc agcatagaga
     1921 ccaagccgtg ttctagaatt caggccacat ctgaagccaa gcccagctct agaactcagg
     1981 tcagccctga gaccaagccc agctctagaa cccagataag ctctgaaacc aatcccagca
     2041 ttgagaccaa gccctgttct agaactcagg ccacctctga ggccaaaccc agctctagaa
     2101 cccagataag atctgagacc aagccctgct ctgaagccca ggccagctct gagacgaagc
     2161 acatctctag aatccagctg agccctgaca acaagccaaa ctctggaacc cagacacatt
     2221 ttaagaccca gaccagcttg gagaccaatc ccagttccag aatccaggct agctcggaga
     2281 ccaagccctg ctggaaaact caagctgact ctggaactct ggacagctcc acgatgcagc
     2341 cacacctgga cactcggtct agctccggaa ccccagttaa ttttggaacc catgtgagat
     2401 tcatgaagca gcccagctct ggaaccccag tcagctcagg attcagagac agctcccaaa
     2461 tcaaatccta ttcaagaact cagaccagct cagaaaccca ggtccacacg gctgcccagt
     2521 ccagatccca accccagttg catccaagtg cccatcccca tcctgcagcc cagtccagct
     2581 ccagtgatga ttccagctct gagactgagc ccagctctag aacctcgcct agtgctacaa
     2641 ccaggcccaa ctccaggatt cagaccagct ctggaacccc atccatcttg gaagcaagac
     2701 ccagctccag cacacagctt ggtgccaagc cccactctcc ttgcacaatg cagctcagct
     2761 ctagaatgca gtttacttcc aggacccaga ccaatttcaa ggcctggcca agctccagag
     2821 ctcaatccag cccaagcacc gcacccagct ctggaactca gctcagttct ggagcacagg
     2881 ctggttctga aatcccagcc agctccaaaa cacagacagc agctgagacc cagccaagtt
     2941 ccagaatcca gctaagctct ggagtccaat ctagtcctgg gacccaggcc atcgcagcaa
     3001 tagaattaag ctccacagcc ctgtctagtt ccgacagcag gtccagctcc aggacccagc
     3061 gctgcccagg agctcgacca gcctctggga ctcaattcgc ctctaaaacc ctgccaggtt
     3121 ctagatacca gctccagacc acagccccag acagctctgg tattcaactg gactttggga
     3181 agcagagcag ttctgaaagt cagcttagct ttggaactca gcccagctct gggacccaga
     3241 taagctcaag aattcaagcc agctctggaa gtcagcttag ttcgggaacc cagctgattt
     3301 ccggagccca acccagctcc agaactcaga ctagttctgg aaaccagctc agctccggga
     3361 cccagaccac tgcaagaatt cagctcagcc ctggagctca tcttagctcc agaacccagt
     3421 ccagtcctga gaccaggctc agctctgagg ctcagtccag ctctggaacc cagttcagtt
     3481 ctgggattca gtttggctct gaaacccaga ccggctcaag aattcagccc gactctggag
     3541 cccaacttag ttccagaacc cagtccagct ctgagaccgg gctcagctct gaaacccaga
     3601 ccggctcaag aattcagccc agccctggag cccaccttag ttctggaacc cagcctgttt
     3661 ctggaaccca atccagttcc agaactcaca ccagttcaag aatctggctg agccctggaa
     3721 atggaatctg cccacagacc cctggccttg accctagaat ccagcttgag gcccctgccc
     3781 cagcccaacc tcagccccca ggcccatccc ccagagaccc caccccagcc cctagcaaag
     3841 acccccagcc tctgcctcag ccccatgatc aggtatgtgg catccaggcc agccttggcc
     3901 ccatcccagg cttaccccaa gcctcctacc tggccccaca gtcacaggtc tcctcaaccc
     3961 cccagaagcc agccgtctct cccaagcccc gggtgggacc ccagaagtcc accccaccca
     4021 ccatatctgt cactcctagt cctgccccta gggcagccct cctgagttcc cagctgtctg
     4081 agtccccagc tttggcgcca gccctttgcc ccactctggg ggagccagga gcccgccctt
     4141 accgcggggg gccgtagctt ggctgtgact tagccctggt tcatgtggtt ctcgtcctct
     4201 cctgtccctt ccagcctggg gcccccagaa gcagcaagtg accttatttc tccagcaggc
     4261 ggtggtaggg agtgtgcggt ggtgaaaaca ggggcttcac cggtcctggc tcagatccag
     4321 gtccttggag ggaaaaggag ggcaggagac gggttgcacc gcatgtaccc tgagggctca
     4381 tggtgaataa aggcaccttc catctctgca
//
