LOCUS       NM_001023570            2577 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1,
            mRNA.
ACCESSION   NM_001023570
VERSION     NM_001023570.4
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 2577)
  AUTHORS   Sen,S., Fabozzi,L., Fujinami,K., Fujinami-Yokokawa,Y.U.,
            Wright,G.A., Webster,A., Mahroo,O., Robson,A.G., Georgiou,M. and
            Michaelides,M.
  TITLE     IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization
            and Natural History
  JOURNAL   Am J Ophthalmol 264, 205-215 (2024)
   PUBMED   38522724
  REMARK    GeneRIF: IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic
            Characterization and Natural History.
REFERENCE   2  (bases 1 to 2577)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 2577)
  AUTHORS   le Maire,A., Weber,T., Saunier,S., Broutin,I., Antignac,C.,
            Ducruix,A. and Dardel,F.
  TITLE     Solution NMR structure of the SH3 domain of human nephrocystin and
            analysis of a mutation-causing juvenile nephronophthisis
  JOURNAL   Proteins 59 (2), 347-355 (2005)
   PUBMED   15723349
REFERENCE   4  (bases 1 to 2577)
  AUTHORS   Mollet,G., Silbermann,F., Delous,M., Salomon,R., Antignac,C. and
            Saunier,S.
  TITLE     Characterization of the nephrocystin/nephrocystin-4 complex and
            subcellular localization of nephrocystin-4 to primary cilia and
            centrosomes
  JOURNAL   Hum Mol Genet 14 (5), 645-656 (2005)
   PUBMED   15661758
REFERENCE   5  (bases 1 to 2577)
  AUTHORS   Otto,E.A., Loeys,B., Khanna,H., Hellemans,J., Sudbrak,R., Fan,S.,
            Muerb,U., O'Toole,J.F., Helou,J., Attanasio,M., Utsch,B.,
            Sayer,J.A., Lillo,C., Jimeno,D., Coucke,P., De Paepe,A.,
            Reinhardt,R., Klages,S., Tsuda,M., Kawakami,I., Kusakabe,T.,
            Omran,H., Imm,A., Tippens,M., Raymond,P.A., Hill,J., Beales,P.,
            He,S., Kispert,A., Margolis,B., Williams,D.S., Swaroop,A. and
            Hildebrandt,F.
  TITLE     Nephrocystin-5, a ciliary IQ domain protein, is mutated in
            Senior-Loken syndrome and interacts with RPGR and calmodulin
  JOURNAL   Nat Genet 37 (3), 282-288 (2005)
   PUBMED   15723066
  REMARK    GeneRIF: nephrocystin-5, RPGR and calmodulin can be
            coimmunoprecipitated from retinal extracts, and that these proteins
            localize to connecting cilia of photoreceptors and to primary cilia
            of renal epithelial cells
REFERENCE   6  (bases 1 to 2577)
  AUTHORS   Mollet,G., Salomon,R., Gribouval,O., Silbermann,F., Bacq,D.,
            Landthaler,G., Milford,D., Nayir,A., Rizzoni,G., Antignac,C. and
            Saunier,S.
  TITLE     The gene mutated in juvenile nephronophthisis type 4 encodes a
            novel protein that interacts with nephrocystin
  JOURNAL   Nat Genet 32 (2), 300-305 (2002)
   PUBMED   12244321
  REMARK    Erratum:[Nat Genet 2002 Nov;32(3):459]
REFERENCE   7  (bases 1 to 2577)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   8  (bases 1 to 2577)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
REFERENCE   9  (bases 1 to 2577)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 2577)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY714228.1, AY964668.1,
            BX393165.2, D25278.1 and AC119736.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001023570.3.
            
            Summary: This gene encodes a nephrocystin protein that interacts
            with calmodulin and the retinitis pigmentosa GTPase regulator
            protein. The encoded protein has a central coiled-coil region and
            two calmodulin-binding IQ domains. It is localized to the primary
            cilia of renal epithelial cells and connecting cilia of
            photoreceptor cells. The protein is thought to play a role in
            ciliary function. Defects in this gene result in Senior-Loken
            syndrome type 5. Alternative splicing results in multiple
            transcript variants. A pseudogene of this gene is found on
            chromosome 6. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Variants 1 and 4 encoded the same isoform (a).
            
            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 :: SRR1803613.151591.1,
                                           SRR1803612.123746.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310864.11/ ENSP00000311505.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                AY714228.1         20-68
            50-184              AY964668.1         8-142
            185-769             AY714228.1         198-782
            770-1993            AY964668.1         727-1950
            1994-2189           AY714228.1         2007-2202
            2190-2536           BX393165.2         39-385              c
            2537-2575           D25278.1           2497-2535
            2576-2577           AC119736.7         55785-55786         c
FEATURES             Location/Qualifiers
     source          1..2577
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..2577
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="IQ motif containing B1"
                     /db_xref="GeneID:9657"
                     /db_xref="HGNC:HGNC:28949"
                     /db_xref="MIM:609237"
     exon            1..95
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            96..184
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            185..296
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     CDS             197..1993
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="isoform a is encoded by transcript variant 1; p53
                     and DNA damage-regulated IQ motif protein; nephrocystin 5;
                     IQ calmodulin-binding motif-containing protein 1"
                     /codon_start=1
                     /product="IQ calmodulin-binding motif-containing protein 1
                     isoform a"
                     /protein_id="NP_001018864.2"
                     /db_xref="CCDS:CCDS33837.1"
                     /db_xref="GeneID:9657"
                     /db_xref="HGNC:HGNC:28949"
                     /db_xref="MIM:609237"
                     /translation="MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSS
                     ELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEE
                     FYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELI
                     QNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKL
                     FSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQ
                     LVGLLSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSK
                     MLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSAL
                     IIQKHWRGYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQEL
                     TDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHRE
                     ALIAQISTNVEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWK
                     KLGEESGDEIDVPKDELSIELENLFIGGTKPP"
     exon            297..459
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            460..589
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            590..683
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            684..783
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            784..962
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1072
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1182
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1325
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1326..1474
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1475..1606
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1763
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     exon            1764..2577
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2314..2319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="hexamer: AATAAA"
     polyA_site      2344
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="major polyA site"
     regulatory      2555..2560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="hexamer: ATTAAA"
     polyA_site      2577
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /note="major polyA site"
ORIGIN      
        1 gcgtcgcgac gcacgctgcc ccggaaggcc gcggcgctgt agtgcggcgt gggagcccca
       61 ggttctttag tggaagaacg cgaagcgagg atgagtgatc cgtggaggca gtaacaggcg
      121 cggcgaggga gaagtgattc ccgaagaatc aaggctgggc cggacccggt ggcctggcaa
      181 cagggtaata agagaaatga agccaacagg tacagaccca aggatcttat ctatagctgc
      241 tgaagttgca aaaagccctg agcagaatgt ccctgttata ctgttgaagt taaaagaaat
      301 aataaacatc acacctttag gaagctcaga gttgaagaaa atcaaacaag atatatattg
      361 ttatgatctc attcaatatt gcctcttggt cctcagtcaa gattattctc gaatccaggg
      421 tggttggact acaatttccc agcttacaca gatattaagc cattgctgtg tgggcttgga
      481 gccaggagaa gatgcagagg aattttacaa tgaattactt ccatcagctg cagaaaattt
      541 tctagttttg gggagacaat tacaaacatg ttttatcaat gcagctaagg ctgaagaaaa
      601 agatgaatta ctacactttt tccaaattgt gactgattct ctcttctggc ttttgggagg
      661 ccatgttgaa cttattcaga atgtactaca aagtgatcat ttcttacatt tactgcaagc
      721 tgacaatgtc caaataggat ctgcagtcat gatgatgcta cagaatatac tacagatcaa
      781 cagtggtgat ttactcagaa taggaagaaa agccctgtat tcaattttag atgaagttat
      841 tttcaagctt ttttcaactc ctagtccagt tataagaagt actgctacaa aactcctact
      901 gttgatggct gaatcccatc aggaaatttt gattttactg agacaaagta cctgctacaa
      961 aggactcaga cgtctactaa gtaaacagga aactgggact gaattcagtc aagaacttag
     1021 acagcttgtt ggccttttaa gcccaatggt ctatcaggaa gtagaagagc agaaactaca
     1081 tcaagcagca tgcttgattc aagcctattg gaagggtttt cagacaagaa agagattaaa
     1141 gaagcttcca tctgctgtga ttgctttgca gaggagtttc agatccaaac gatcaaagat
     1201 gttgctggag ataaataggc agaaggaaga agaggacctc aaattacaat tgcaacttca
     1261 aagacagaga gccatgagac tttcccgaga attgcagctg agtatgctcg aaatagttca
     1321 tccaggtcag gtggagaaac actatcggga aatggaagag aaatcagcac tgattatcca
     1381 gaaacattgg agagggtaca gggaaaggaa aaattttcac caacagaggc agtctctcat
     1441 agagtataaa gcagctgtca cacttcaaag agcagcgctt aaattcctag cgaagtgccg
     1501 taagaaaaag aaactatttg ctccttggcg aggactccaa gaactcactg atgcacgccg
     1561 agttgaactg aagaaacgag tggatgacta tgtcagaaga catttgggct ctccaatgtc
     1621 agatgtggtc agtagggagc tccatgccca agctcaagaa cgactgcaac actactttat
     1681 gggcagggcc ctagaagagc gagcccagca gcacagagaa gctctgatag cacagatcag
     1741 caccaacgtt gaacagctaa tgaaggcacc aagtctgaag gaggcagaag ggaaagaacc
     1801 tgagctcttc ctaagtagat ccaggcctgt ggcagccaag gccaagcagg cccatctcac
     1861 aaccctgaag cacatacaag caccctggtg gaagaagctt ggagaagaat ctggagatga
     1921 gattgatgtt ccaaaggatg agcttagtat agaattagaa aatttattca ttggtggaac
     1981 caaaccacct tagtgagtaa ccctaagaat tgacacaaat ctcatatttt aggagattat
     2041 attggttctg cctctggcat gctggtagac tagggccatc ctaacttatt attttccaga
     2101 ggttctcctc cagacaagac ctgcagtaag caaagagtta tattctacct ctctctcaat
     2161 tttctttttc ttttctctgt atcctcatcg ttagccacac acagatttgt gtggctttta
     2221 ttgtagaact aaacttagca tagtgttctg ttgtttacat gaagtgtgtt tttctttggt
     2281 ttcttctgtt ttccaactaa atattttttt ctaaataaat attttcaaca attgatttga
     2341 aaaatttgtc aggattattt caacttttca catttgttat ctgaaattcc tatttcctgt
     2401 taacatagga ggtgtgtgca gactttatta atgtgaggaa aagaaatgct caattgaagg
     2461 acatttccct gttttctata aagcaatggt tgaactcatt ttctattttg ttatttctaa
     2521 aaggaactgc ataccaaaaa aatgcattct ttctattaaa ctgtgagaac tacataa
//
