LOCUS       NP_001018864             598 aa            linear   PRI 09-FEB-2025
DEFINITION  IQ calmodulin-binding motif-containing protein 1 isoform a [Homo
            sapiens].
ACCESSION   NP_001018864
VERSION     NP_001018864.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 598)
  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  (residues 1 to 598)
  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  (residues 1 to 598)
  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  (residues 1 to 598)
  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  (residues 1 to 598)
  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  (residues 1 to 598)
  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  (residues 1 to 598)
  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  (residues 1 to 598)
  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  (residues 1 to 598)
  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 (residues 1 to 598)
  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 Mar 15, 2008 this sequence version replaced NP_001018864.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..598
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     Protein         1..598
                     /product="IQ calmodulin-binding motif-containing protein 1
                     isoform a"
                     /note="p53 and DNA damage-regulated IQ motif protein;
                     nephrocystin 5; IQ calmodulin-binding motif-containing
                     protein 1"
                     /calculated_mol_wt=68798
     Region          1..157
                     /region_name="Interaction with BBS1, BBS8 and BBS9.
                     /evidence=ECO:0000269|PubMed:25552655"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15051.1)"
     Region          287..598
                     /region_name="Interaction with CEP290, BBS1, BBS2, BBS4,
                     BBS5, BBS7, BBS8 and BBS9.
                     /evidence=ECO:0000269|PubMed:25552655"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15051.1)"
     Region          290..>316
                     /region_name="IQCD"
                     /note="IQ (isoleucine-glutamine) motif containing D
                     (IQCD); cd23767"
                     /db_xref="CDD:467745"
     Region          <385..>430
                     /region_name="Adgb_C_mid-like"
                     /note="C-terminal middle region of Androglobins (Adgbs)
                     and related proteins; including permuted globin domain and
                     IQ motif; cd22307"
                     /db_xref="CDD:412094"
     Region          387..408
                     /region_name="IQ"
                     /note="Calmodulin-binding motif; smart00015"
                     /db_xref="CDD:197470"
     Region          392..410
                     /region_name="IQ motif"
                     /note="IQ motif [structural motif]"
                     /db_xref="CDD:412094"
     Region          530..598
                     /region_name="Interaction with BBS1, BBS2, BBS4, BBS7,
                     BBS8 and BBS9. /evidence=ECO:0000269|PubMed:25552655"
                     /note="propagated from UniProtKB/Swiss-Prot (Q15051.1)"
     Site            572
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q15051.1)"
     CDS             1..598
                     /gene="IQCB1"
                     /gene_synonym="NPHP5; PIQ; SLSN5"
                     /coded_by="NM_001023570.4:197..1993"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS33837.1"
                     /db_xref="GeneID:9657"
                     /db_xref="HGNC:HGNC:28949"
                     /db_xref="MIM:609237"
ORIGIN      
        1 mkptgtdpri lsiaaevaks peqnvpvill klkeiinitp lgsselkkik qdiycydliq
       61 ycllvlsqdy sriqggwtti sqltqilshc cvglepgeda eefynellps aaenflvlgr
      121 qlqtcfinaa kaeekdellh ffqivtdslf wllgghveli qnvlqsdhfl hllqadnvqi
      181 gsavmmmlqn ilqinsgdll rigrkalysi ldevifklfs tpspvirsta tkllllmaes
      241 hqeilillrq stcykglrrl lskqetgtef sqelrqlvgl lspmvyqeve eqklhqaacl
      301 iqaywkgfqt rkrlkklpsa vialqrsfrs krskmllein rqkeeedlkl qlqlqrqram
      361 rlsrelqlsm leivhpgqve khyremeeks aliiqkhwrg yrerknfhqq rqslieykaa
      421 vtlqraalkf lakcrkkkkl fapwrglqel tdarrvelkk rvddyvrrhl gspmsdvvsr
      481 elhaqaqerl qhyfmgrale eraqqhreal iaqistnveq lmkapslkea egkepelfls
      541 rsrpvaakak qahlttlkhi qapwwkklge esgdeidvpk delsielenl figgtkpp
//
