LOCUS       NM_001300896            3962 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens calcium binding protein 4 (CABP4), transcript variant
            3, mRNA.
ACCESSION   NM_001300896
VERSION     NM_001300896.3
KEYWORDS    RefSeq.
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 3962)
  AUTHORS   Smirnov,V.M., Zeitz,C., Soumittra,N., Audo,I. and
            Defoort-Dhellemmes,S.
  TITLE     Retinal findings in a patient of French ancestry with CABP4-related
            retinal disease
  JOURNAL   Doc Ophthalmol 136 (2), 135-143 (2018)
   PUBMED   29525873
  REMARK    GeneRIF: CABP4-related retinal disease is a cone-rod system
            disorder with possible foveal abnormalities.
REFERENCE   2  (bases 1 to 3962)
  AUTHORS   Schatz,P., Abdalla Elsayed,M.E.A. and Khan,A.O.
  TITLE     Multimodal imaging in CABP4-related retinopathy
  JOURNAL   Ophthalmic Genet 38 (5), 459-464 (2017)
   PUBMED   28635425
  REMARK    GeneRIF: Foveal thinning is a feature of CABP4 retinopathy. Normal
            autofluorescence is consistent with inner retinal dysfunction and
            suggests the condition could be amenable to gene therapy. Retinal
            dysfunction was stable throughout follow-up.
REFERENCE   3  (bases 1 to 3962)
  AUTHORS   Dan,H., Song,X., Li,J., Xing,Y. and Li,T.
  TITLE     Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese
            patients with Schubert-Bornschein congenital stationary night
            blindness
  JOURNAL   Ophthalmic Genet 38 (3), 206-210 (2017)
   PUBMED   27428514
  REMARK    GeneRIF: In this study, a novel compound heterozygous mutation,
            c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3
            gene of a proband. No mutations were identified in the CABP4 or
            GPR179 gene.
REFERENCE   4  (bases 1 to 3962)
  AUTHORS   Hove,M.N., Kilic-Biyik,K.Z., Trotter,A., Gronskov,K., Sander,B.,
            Larsen,M., Carroll,J., Bech-Hansen,T. and Rosenberg,T.
  TITLE     Clinical Characteristics, Mutation Spectrum, and Prevalence of
            Aland Eye Disease/Incomplete Congenital Stationary Night Blindness
            in Denmark
  JOURNAL   Invest Ophthalmol Vis Sci 57 (15), 6861-6869 (2016)
   PUBMED   28002560
  REMARK    GeneRIF: Twenty-nine CACNA1F variations were detected among 34
            families in the total cohort, and a novel CABP4 variation was
            identified in one family.
REFERENCE   5  (bases 1 to 3962)
  AUTHORS   Taylor,T.D., Noguchi,H., Totoki,Y., Toyoda,A., Kuroki,Y., Dewar,K.,
            Lloyd,C., Itoh,T., Takeda,T., Kim,D.W., She,X., Barlow,K.F.,
            Bloom,T., Bruford,E., Chang,J.L., Cuomo,C.A., Eichler,E.,
            FitzGerald,M.G., Jaffe,D.B., LaButti,K., Nicol,R., Park,H.S.,
            Seaman,C., Sougnez,C., Yang,X., Zimmer,A.R., Zody,M.C.,
            Birren,B.W., Nusbaum,C., Fujiyama,A., Hattori,M., Rogers,J.,
            Lander,E.S. and Sakaki,Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   6  (bases 1 to 3962)
  AUTHORS   Haeseleer,F., Imanishi,Y., Maeda,T., Possin,D.E., Maeda,A., Lee,A.,
            Rieke,F. and Palczewski,K.
  TITLE     Essential role of Ca2+-binding protein 4, a Cav1.4 channel
            regulator, in photoreceptor synaptic function
  JOURNAL   Nat Neurosci 7 (10), 1079-1087 (2004)
   PUBMED   15452577
REFERENCE   7  (bases 1 to 3962)
  AUTHORS   Haeseleer,F., Sokal,I., Verlinde,C.L., Erdjument-Bromage,H.,
            Tempst,P., Pronin,A.N., Benovic,J.L., Fariss,R.N. and Palczewski,K.
  TITLE     Five members of a novel Ca(2+)-binding protein (CABP) subfamily
            with similarity to calmodulin
  JOURNAL   J Biol Chem 275 (2), 1247-1260 (2000)
   PUBMED   10625670
REFERENCE   8  (bases 1 to 3962)
  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   9  (bases 1 to 3962)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301348
REFERENCE   10 (bases 1 to 3962)
  AUTHORS   Peter,F., Nguyen Van,P. and Soling,H.D.
  TITLE     Different sorting of Lys-Asp-Glu-Leu proteins in rat liver
  JOURNAL   J Biol Chem 267 (15), 10631-10637 (1992)
   PUBMED   1316906
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003419.3.
            
            On Mar 25, 2020 this sequence version replaced NM_001300896.2.
            
            Summary: This gene encodes a member of the CABP family of calcium
            binding protein characterized by four EF-hand motifs. Mutations in
            this gene are associated with congenital stationary night blindness
            type 2B. Three transcript variants encoding two different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2014].
            
            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 :: BC033167.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-244               AP003419.3         132868-133111
            245-325             AP003419.3         136174-136254
            326-438             AP003419.3         136571-136683
            439-582             AP003419.3         136764-136907
            583-692             AP003419.3         138038-138147
            693-840             AP003419.3         138836-138983
            841-3962            AP003419.3         139096-142217
FEATURES             Location/Qualifiers
     source          1..3962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..3962
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="calcium binding protein 4"
                     /db_xref="GeneID:57010"
                     /db_xref="HGNC:HGNC:1386"
                     /db_xref="MIM:608965"
     exon            1..244
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            245..325
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            326..438
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             357..869
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="isoform b is encoded by transcript variant 3"
                     /codon_start=1
                     /product="calcium-binding protein 4 isoform b"
                     /protein_id="NP_001287825.1"
                     /db_xref="CCDS:CCDS73333.1"
                     /db_xref="GeneID:57010"
                     /db_xref="HGNC:HGNC:1386"
                     /db_xref="MIM:608965"
                     /translation="MTEPWLALGTSWTLPLQDRELGPEELDELQAAFEEFDTDRDGYI
                     SHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLG
                     VRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDF
                     DEFVMMLSRH"
     exon            439..582
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            583..692
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            693..840
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            841..3962
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1403..1408
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATAAA"
     polyA_site      1430
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
     regulatory      2187..2192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: TATAAA"
     polyA_site      2208
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
     regulatory      2511..2516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATACA"
     polyA_site      2529
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
     regulatory      3941..3946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATAAA"
     polyA_site      3962
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
ORIGIN      
        1 agtagaagcg gcaggcagct gtccccagcg gccagtgtcc cccatgccgg atctctagga
       61 tctggaaggc cgctgctgcc aggaacaaga agtcagagag ggccaggctg agcaggagca
      121 gcgccagacg cgtgccagct ccatgccggg cctgggagcc ggccagccac gccatcaacc
      181 cattggctgg cagcccaagg agcagcaggg ccaccaggaa gaccgtgtcc cagccacctt
      241 ggggtcccac cgacatcgtc ctgactccct gcacgacgct gctcagagga catacgggcc
      301 cctgctcaat cgagtcttcg ggaaggccaa catgagcagg ggatgaagga ggaaggatga
      361 cagagccgtg gctggccctg gggacatcct ggactctccc cctgcaggac cgcgaactgg
      421 gccccgagga gctagacgag cttcaggccg ccttcgagga gtttgacact gaccgtgacg
      481 gctacatcag ccaccgggag ctgggtgact gcatgcggac cctgggctac atgcccaccg
      541 agatggagct cctggaggtc tcgcagcaca tcaagatgcg catgggcggc cgtgtggact
      601 ttgaggagtt tgtagaactg ataggcccaa agctgaggga ggagacggcg cacatgctgg
      661 gggtgcgaga gctgcgcatc gccttccgag agtttgacag ggacagggat ggacgaatta
      721 cggtggcgga gctgcgggag gcggtaccgg ctctgctcgg ggagccgctg gcgggtcctg
      781 agctggacga gatgctccga gaagtggacc tcaatgggga tggcaccgta gactttgacg
      841 agtttgtgat gatgctctcc cgccactgag gctccaggag ggaatatctg ttgcccctgc
      901 ggccccagac accagccaga cccaggctgc aggcctcccc caggagcctc caggatggag
      961 atggagaccc agcagccccc agactacttc tatccctgaa aacacctggc ctcaatgttg
     1021 gcttgttatg ttacctgccc accctcatcc ttacctcctc ctactcaagc tgcctggaga
     1081 agacctgctc tcagctgccc accgttcctc agtgtgagca agatttgggt ctctccagac
     1141 ctctgggagg tagggagttc cctggcactg gcagcattca gtggggaccc cccagtggca
     1201 tgatgaatgg agaggatggc tggacccctt ccactactta tgtttataat tttttttttt
     1261 tttaatgaac ttgagccggg tgcagtggct cacacctgta agcccagctg tcagggggca
     1321 gaagcgggag gatagcttga gcccaggagt gcaagacctg cctgggcaat atactgagac
     1381 cccattctcc acaaaaagga aaaataaaag acaaaaaaac aaacaaaaaa ccaaaaaacc
     1441 caagtgtaaa aaaagtgagc ttgaaagaaa gaaagggatg gctccatgta tcaaagacaa
     1501 agaaatcaaa gctggggttg taagagggag ctgacgctgt gggggtttca gatctggatg
     1561 gaggcttggc cgcctggact cctacaacca tgagtgacag aagaaccata tgagtctggg
     1621 gagcaagaaa caaacccccc ggatatattc cagggtctcc aaaggctaag atattaatct
     1681 gtctgcactg accagtcata gaaagtggca aggatacaga tgttcagggc ccagagtgga
     1741 aacagctgcc ctaaagagcc tggaactcca gggcctgccc ttcaagcagg cgtgtagtct
     1801 ctctccaggg tgtgaaaaac tggaaaaaaa ccctgccgct cccaaagggg aacttgtgat
     1861 aaaaattaca gattattggg ctgggagtgg tggctcacgc ctgtaatccc agcactttgg
     1921 gaggctgagg cgggtgaatt acctgaggtc aggagtttga ggccagcctg accaacatgg
     1981 tgaaacccca tctctactaa aaatacaaaa attaactggg cgaggtagca tgcacctgta
     2041 atctcagcta ctcggaggtt gaggcaggag aatcgcttga gcccgggagg tggagctgca
     2101 gtgagctgag atcacaccat tgcaccccag cctgagcaac agatcgagac tccgtctcaa
     2161 aaacaaaaca aaaaaaccat actgattata aaagtaaaga aaccaccatg aaggagacga
     2221 gacagagaca aaaacaagag gactggcatc tcagtgtaca taatacagcc gcctaagaga
     2281 ccacaagata catgcaaata aaagacggct aaaaggggaa gagagatcaa catgcagtaa
     2341 caggatagta tgaagagaga accggaagat ttaaaaagta acccaacagg ccaggcgcat
     2401 ggctcatgcc tggaatccca gcactttggg aggccaaggt gggtgggttg cttgagctca
     2461 ggaattcgag accagcctgg gcaacatggt gaaaccctgt ctctactaaa aatacaaaaa
     2521 ttagccaggc gtggtggtgc ttgcatctgt ggtcccaggt attctacagg ctgaggtggg
     2581 aggatcactt gagcccagga ggcagaggtt gcagtgagtc gagatcgcac cactgcactc
     2641 cagcgtgggt aacagagtga gaatccgtca aaaagaaaaa aacaaaccat ggcttctgtt
     2701 aaaaaaataa agtatatttt atatatacac acacacacac acacacacac acagccattg
     2761 gaatgaaaaa ataatggata agctaaacag cagattaaac acaatttaaa gattaatgaa
     2821 ctggaagcta tatctaagaa atcacttata atgtaacact gagagacaaa aggatggaaa
     2881 atattacagg gtagttaaaa gtcactggaa ggctgggtgt ggtggctcac gcctgtaatc
     2941 ccagcacttt gggaggctga gacgggcggg tcacagggtc aggagatcga gaccatcctg
     3001 gctaacacag tgaaacccca tctctactaa aaatacaaaa aaaaattagc tgggcgtggt
     3061 ggcgggcgcc tgtagtccca gctactaggg aggctgaggc aagagaatgg cgtgaaccca
     3121 ggaggcggag cttgcagtga gccgagattg caccactgca ctccagcctg ggctacagag
     3181 cgagactccg tctcggaaaa aaaaaaaaaa aaaggtcact ggaagactgg gtgtggtggc
     3241 ttatgcctgt aatcccagca ttttgggagg ctaaggcagg aggatcactt gaggccagga
     3301 gtttgagacc agcctaacag caagaccctg cctcttaaaa aaaataataa aaaaataagc
     3361 tgggtgtagt ggctcatgct tgtagttcca gctattcagg aggctgaggt gagaggatca
     3421 tttgagccca ggagttggag gctgcagtga tcgtgccact gcactccagc cttggtgaca
     3481 gagcaagaga ccctgtctca aagaaaaaga cagataagtc cttgggagtc tcagacggag
     3541 gacatacata gagaatgaac aagaagcaat aaccaaagag ataatggctg aaaattttcc
     3601 ataaagactt ccacagactt caactcccca gattgaagga acaaactgaa gtcagagtag
     3661 ggtaaataaa aataaatata tatctggata tatcccattg aaaccacaga atataaaaag
     3721 caaatcttat aaataactgg agagaaaagt cagattcacg gtgttctgtc aaagtgttca
     3781 tgtagactaa gggtggggaa actttctgta aagggctgga gaataattat tttcagcttt
     3841 gaggctttgg tctctgttgc agctgctcac gcaactctgc tgttgaagtt tgtagtgcaa
     3901 agtcaagtca acaaatgagt gtggctatat cagaaatttt aataaataac agtaaaactt
     3961 ca
//
