LOCUS       NM_177128               2284 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus IQ calmodulin-binding motif containing 1 (Iqcb1),
            mRNA.
ACCESSION   NM_177128 XM_283352
VERSION     NM_177128.4
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2284)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2284)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2284)
  AUTHORS   Hanke-Gogokhia,C., Chiodo,V.A., Hauswirth,W.W., Frederick,J.M. and
            Baehr,W.
  TITLE     Rescue of cone function in cone-only Nphp5 knockout mouse model
            with Leber congenital amaurosis phenotype
  JOURNAL   Mol Vis 24, 834-846 (2018)
   PUBMED   30713422
  REMARK    GeneRIF: In the Nphp5-/- and cone-only Nphp5-/-; Nrl-/- mice, cone
            outer segments did not form, but mutant cones continued to express
            cone pigments in the inner segments without obvious signs of cone
            cell death.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2284)
  AUTHORS   Ronquillo,C.C., Hanke-Gogokhia,C., Revelo,M.P., Frederick,J.M.,
            Jiang,L. and Baehr,W.
  TITLE     Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse
            photoreceptor outer segment formation
  JOURNAL   FASEB J 30 (10), 3400-3412 (2016)
   PUBMED   27328943
  REMARK    GeneRIF: Nphp5(-/-) photoreceptor degeneration was complete at 1 mo
            of age but was delayed significantly in Nphp5(-/-);Nrl(-/-) (cone
            only) retina
REFERENCE   5  (bases 1 to 2284)
  AUTHORS   Rao,K.N., Zhang,W., Li,L., Ronquillo,C., Baehr,W. and Khanna,H.
  TITLE     Ciliopathy-associated protein CEP290 modifies the severity of
            retinal degeneration due to loss of RPGR
  JOURNAL   Hum Mol Genet 25 (10), 2005-2012 (2016)
   PUBMED   26936822
REFERENCE   6  (bases 1 to 2284)
  AUTHORS   Sang,L., Miller,J.J., Corbit,K.C., Giles,R.H., Brauer,M.J.,
            Otto,E.A., Baye,L.M., Wen,X., Scales,S.J., Kwong,M.,
            Huntzicker,E.G., Sfakianos,M.K., Sandoval,W., Bazan,J.F.,
            Kulkarni,P., Garcia-Gonzalo,F.R., Seol,A.D., O'Toole,J.F., Held,S.,
            Reutter,H.M., Lane,W.S., Rafiq,M.A., Noor,A., Ansar,M., Devi,A.R.,
            Sheffield,V.C., Slusarski,D.C., Vincent,J.B., Doherty,D.A.,
            Hildebrandt,F., Reiter,J.F. and Jackson,P.K.
  TITLE     Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy
            disease genes and pathways
  JOURNAL   Cell 145 (4), 513-528 (2011)
   PUBMED   21565611
REFERENCE   7  (bases 1 to 2284)
  AUTHORS   Cideciyan,A.V., Rachel,R.A., Aleman,T.S., Swider,M., Schwartz,S.B.,
            Sumaroka,A., Roman,A.J., Stone,E.M., Jacobson,S.G. and Swaroop,A.
  TITLE     Cone photoreceptors are the main targets for gene therapy of NPHP5
            (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone
            Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
  JOURNAL   Hum Mol Genet 20 (7), 1411-1423 (2011)
   PUBMED   21245082
  REMARK    GeneRIF: Cone photoreceptors are the main targets for gene therapy
            of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an
            all-cone Nphp6 hypomorph mouse that mimics the human retinal
            ciliopathy.
REFERENCE   8  (bases 1 to 2284)
  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
REFERENCE   9  (bases 1 to 2284)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY127963.1, AK165220.1 and BE652573.1.
            
            On Aug 1, 2009 this sequence version replaced NM_177128.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK078554.1, AK165220.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN00849384
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BY127963.1         2-18
            18-2220             AK165220.1         2-2204
            2221-2284           BE652573.1         419-482
FEATURES             Location/Qualifiers
     source          1..2284
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 26.11 cM"
     gene            1..2284
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /note="IQ calmodulin-binding motif containing 1"
                     /db_xref="GeneID:320299"
                     /db_xref="MGI:MGI:2443764"
     exon            1..93
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            94..163
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            164..276
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             177..1973
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /codon_start=1
                     /product="IQ calmodulin-binding motif-containing protein
                     1"
                     /protein_id="NP_796102.2"
                     /db_xref="CCDS:CCDS28157.1"
                     /db_xref="GeneID:320299"
                     /db_xref="MGI:MGI:2443764"
                     /translation="MKPAGTDPRILSLAAEVAKSPEQNVPVILLKLKEIINNTPLGSS
                     ELKKVKQDIYCYDLIQYCLLVLSQDSSRIQGGWSTISQLTQILSHCCVGLEPGEDGEE
                     FYKELLPSAAENFLILGRRLQTCFINATKGEEQDKLLHFFQIVTDSLFWLLGGHVQLI
                     QNVLQSDHFLHLLQTDNVQIGASVMTLLQNILQINSGNLLKIEGKALHSILDEILFKL
                     LSTPSPVIRSTATKLLLVLAESHQEILILLRLSACYKGLRSLLNKQETLTEFSRELRQ
                     LVDLLTPKIHQEVEEQKLHKAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRTK
                     MMLELNRQKEEEDLRLKLQLQRQRAMRLSRESRLNMLEIIHPGQVEKYNREMEEKSAL
                     TIQKHWRGYRERKNFRQQRPSLTEYKAAVTLQRAVLKFLAKCRKKKKLFASWHGLQEL
                     TDARRVELKQQVDDYVKRHPCSQMSEAASRELHAQAQERLQHYFMGRAIEERAQQHRE
                     ALMAQISTNIEQLMKAPSLKEAEGKEPEQFLSRSRPVAAKAKQAHLTTLKHIQAPWWK
                     KLGEEPGDEVDVPKDELSIDLGMLFIGGTKPP"
     exon            277..439
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            440..569
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            570..663
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            664..763
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            764..942
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1052
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1162
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1305
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1454
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1586
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1587..1743
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..2271
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2250..2255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /note="hexamer: AATAAA"
     polyA_site      2271
                     /gene="Iqcb1"
                     /gene_synonym="6820449I09Rik; NPHP5"
                     /note="major polyA site"
ORIGIN      
        1 gtcgcgacgc acacagctcg gcggagaccg cctcgctgag gtacgctgtg cgggtcgggc
       61 cctgaggtgg acggacgcgg ggaaagagat gagtgattcc tggaagcact gaagagcgcg
      121 gccttgggac tcttgatttc tcagagatca gtctagcagt agggtggtag aaaaaaatga
      181 agccagccgg tacagaccca aggatcttgt ctttagctgc tgaagttgca aaaagtcctg
      241 aacaaaatgt tcctgttata ttattgaagt taaaagaaat aataaacaac acccctttgg
      301 gaagctcaga gttaaagaaa gttaaacaag atatatattg ttatgacctc attcagtatt
      361 gtctattggt cctcagtcaa gattcttctc gaatccaggg tggttggtct acaatttccc
      421 agcttacaca gatactaagc cattgctgtg tgggcttaga gccaggagaa gatggagaag
      481 aattttacaa ggagttactt ccatcagctg ctgaaaattt tcttatcctg gggagaaggt
      541 tacaaacatg tttcatcaat gcaactaagg gtgaagagca agataaatta ctacattttt
      601 tccaaattgt gactgattct ctcttctggt tattgggagg tcatgttcaa ctgatacaga
      661 atgtactgca gagtgatcat ttcttacact tgctgcaaac tgacaatgtt cagataggag
      721 cttcagtcat gactctgcta cagaatatac tacagatcaa cagtggtaat ttactcaaaa
      781 tagaaggaaa agccctgcat tctattttag atgaaattct tttcaagctt ttgtcaactc
      841 ctagtccagt cataagaagt actgctacaa agctcctgct agtactggct gaatcccatc
      901 aggaaatttt gattttactg agactaagtg cctgctataa aggacttaga agtctgctaa
      961 ataaacagga aactcttaca gaatttagtc gagaacttag acagctcgtt gatcttttaa
     1021 cccctaagat ccatcaggaa gtagaagaac agaaactaca taaagcagct tgcttgattc
     1081 aagcctattg gaaaggtttc cagaccagaa agagattaaa gaagcttccg tctgctgtga
     1141 ttgccttgca gaggagtttc agatctaaac gaacaaagat gatgttggag ctaaataggc
     1201 agaaggaaga agaagacctc agattaaaat tgcaacttca aagacagaga gcaatgaggc
     1261 tttcacgaga gtcacgcttg aacatgcttg aaataattca tccaggtcaa gtggagaagt
     1321 acaataggga aatggaagag aaatcagcat tgactattca gaaacattgg agggggtaca
     1381 gggaaaggaa gaattttcgc caacagaggc catctctcac agagtataaa gcagctgtca
     1441 cacttcaaag agcagttctt aaattcctag caaagtgccg taagaaaaag aaactctttg
     1501 cctcttggca tggacttcaa gaactcactg atgcacgcag agttgaactg aagcaacaag
     1561 tggacgatta tgtcaaaaga cacccgtgct ctcagatgtc agaggcggcc agcagagagc
     1621 tccatgcaca agcacaagaa cgacttcagc actattttat gggaagagcc atagaagagc
     1681 gagcccagca acacagagaa gctttgatgg ctcagatcag caccaatatt gaacagctga
     1741 tgaaggcacc aagtctgaag gaggcagaag gaaaggaacc cgagcaattc ctaagtagat
     1801 ctaggcctgt ggcagccaag gccaagcagg cccatcttac caccctgaag cacatacaag
     1861 caccctggtg gaagaagctt ggagaagaac caggggatga ggttgatgtt ccaaaggatg
     1921 agcttagtat agatttagga atgttattta tcggtggaac caaacctccc tagagagtac
     1981 tgtgaaagct ggcaatctta ccttttaaga gattgttagt tttgcctctg gcatgcagga
     2041 agactagggc tatgccagtg gctttccaga gcatcatctt catgcaacac ttggaagcaa
     2101 aaagcaaagc attgcctacc tcactctcaa ttctttcccc tgtctctatg ccctgtctgt
     2161 gagctttaat tgtgggagag aactcaatgt gaaattttat tgttaatata tctgttttct
     2221 aactaaaagt tgttttggtt ttgttttaaa ataaatagtg tttctaaaaa aaaaaaaaaa
     2281 aaaa
//
