LOCUS       NM_001300895            4059 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens calcium binding protein 4 (CABP4), transcript variant
            2, mRNA.
ACCESSION   NM_001300895 XM_005274115
VERSION     NM_001300895.3
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 4059)
  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 4059)
  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 4059)
  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 4059)
  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 4059)
  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 4059)
  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 4059)
  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 4059)
  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 4059)
  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 4059)
  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_001300895.2.
            
            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##
            CDS exon combination :: ERR279838.8555.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2146236, SAMEA2155628 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-436               AP003419.3         135819-136254
            437-535             AP003419.3         136585-136683
            536-679             AP003419.3         136764-136907
            680-789             AP003419.3         138038-138147
            790-937             AP003419.3         138836-138983
            938-4059            AP003419.3         139096-142217
FEATURES             Location/Qualifiers
     source          1..4059
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..4059
                     /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..436
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            437..535
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             454..966
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="isoform b is encoded by transcript variant 2"
                     /codon_start=1
                     /product="calcium-binding protein 4 isoform b"
                     /protein_id="NP_001287824.1"
                     /db_xref="CCDS:CCDS73333.1"
                     /db_xref="GeneID:57010"
                     /db_xref="HGNC:HGNC:1386"
                     /db_xref="MIM:608965"
                     /translation="MTEPWLALGTSWTLPLQDRELGPEELDELQAAFEEFDTDRDGYI
                     SHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLG
                     VRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDF
                     DEFVMMLSRH"
     exon            536..679
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            680..789
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            790..937
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     exon            938..4059
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1500..1505
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATAAA"
     polyA_site      1527
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
     regulatory      2284..2289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: TATAAA"
     polyA_site      2305
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
     regulatory      2608..2613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATACA"
     polyA_site      2626
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
     regulatory      4038..4043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="hexamer: AATAAA"
     polyA_site      4059
                     /gene="CABP4"
                     /gene_synonym="CRSD; CSNB2B"
                     /note="major polyA site"
ORIGIN      
        1 agctttatgg gtcctgaaag ccaagggtgc ccaggggtgt ggtgtctctg agccctgtta
       61 tccctccccc atgaccacag agcaggcaag ggggcagcag ggcccaaatc tggccattgg
      121 ccgtcagaag ccccctgcgg gggttgtgac tcccaagagt gatgcagagg agcccccgtt
      181 gaccaggaag aggagcaaga aggagagggg gctccgaggg tctcgaaagc gcactggcag
      241 ctctggggag cagacaggcc ccgaggcccc ggggagcagc aataaccctc ccagcactgg
      301 agaggggccg gcgggcgcac cccctgcatc ccctgggccg gcctcttctc gccagtccca
      361 ccgacatcgt cctgactccc tgcacgacgc tgctcagagg acatacgggc ccctgctcaa
      421 tcgagtcttc gggaagggga tgaaggagga aggatgacag agccgtggct ggccctgggg
      481 acatcctgga ctctccccct gcaggaccgc gaactgggcc ccgaggagct agacgagctt
      541 caggccgcct tcgaggagtt tgacactgac cgtgacggct acatcagcca ccgggagctg
      601 ggtgactgca tgcggaccct gggctacatg cccaccgaga tggagctcct ggaggtctcg
      661 cagcacatca agatgcgcat gggcggccgt gtggactttg aggagtttgt agaactgata
      721 ggcccaaagc tgagggagga gacggcgcac atgctggggg tgcgagagct gcgcatcgcc
      781 ttccgagagt ttgacaggga cagggatgga cgaattacgg tggcggagct gcgggaggcg
      841 gtaccggctc tgctcgggga gccgctggcg ggtcctgagc tggacgagat gctccgagaa
      901 gtggacctca atggggatgg caccgtagac tttgacgagt ttgtgatgat gctctcccgc
      961 cactgaggct ccaggaggga atatctgttg cccctgcggc cccagacacc agccagaccc
     1021 aggctgcagg cctcccccag gagcctccag gatggagatg gagacccagc agcccccaga
     1081 ctacttctat ccctgaaaac acctggcctc aatgttggct tgttatgtta cctgcccacc
     1141 ctcatcctta cctcctccta ctcaagctgc ctggagaaga cctgctctca gctgcccacc
     1201 gttcctcagt gtgagcaaga tttgggtctc tccagacctc tgggaggtag ggagttccct
     1261 ggcactggca gcattcagtg gggacccccc agtggcatga tgaatggaga ggatggctgg
     1321 accccttcca ctacttatgt ttataatttt tttttttttt aatgaacttg agccgggtgc
     1381 agtggctcac acctgtaagc ccagctgtca gggggcagaa gcgggaggat agcttgagcc
     1441 caggagtgca agacctgcct gggcaatata ctgagacccc attctccaca aaaaggaaaa
     1501 ataaaagaca aaaaaacaaa caaaaaacca aaaaacccaa gtgtaaaaaa agtgagcttg
     1561 aaagaaagaa agggatggct ccatgtatca aagacaaaga aatcaaagct ggggttgtaa
     1621 gagggagctg acgctgtggg ggtttcagat ctggatggag gcttggccgc ctggactcct
     1681 acaaccatga gtgacagaag aaccatatga gtctggggag caagaaacaa accccccgga
     1741 tatattccag ggtctccaaa ggctaagata ttaatctgtc tgcactgacc agtcatagaa
     1801 agtggcaagg atacagatgt tcagggccca gagtggaaac agctgcccta aagagcctgg
     1861 aactccaggg cctgcccttc aagcaggcgt gtagtctctc tccagggtgt gaaaaactgg
     1921 aaaaaaaccc tgccgctccc aaaggggaac ttgtgataaa aattacagat tattgggctg
     1981 ggagtggtgg ctcacgcctg taatcccagc actttgggag gctgaggcgg gtgaattacc
     2041 tgaggtcagg agtttgaggc cagcctgacc aacatggtga aaccccatct ctactaaaaa
     2101 tacaaaaatt aactgggcga ggtagcatgc acctgtaatc tcagctactc ggaggttgag
     2161 gcaggagaat cgcttgagcc cgggaggtgg agctgcagtg agctgagatc acaccattgc
     2221 accccagcct gagcaacaga tcgagactcc gtctcaaaaa caaaacaaaa aaaccatact
     2281 gattataaaa gtaaagaaac caccatgaag gagacgagac agagacaaaa acaagaggac
     2341 tggcatctca gtgtacataa tacagccgcc taagagacca caagatacat gcaaataaaa
     2401 gacggctaaa aggggaagag agatcaacat gcagtaacag gatagtatga agagagaacc
     2461 ggaagattta aaaagtaacc caacaggcca ggcgcatggc tcatgcctgg aatcccagca
     2521 ctttgggagg ccaaggtggg tgggttgctt gagctcagga attcgagacc agcctgggca
     2581 acatggtgaa accctgtctc tactaaaaat acaaaaatta gccaggcgtg gtggtgcttg
     2641 catctgtggt cccaggtatt ctacaggctg aggtgggagg atcacttgag cccaggaggc
     2701 agaggttgca gtgagtcgag atcgcaccac tgcactccag cgtgggtaac agagtgagaa
     2761 tccgtcaaaa agaaaaaaac aaaccatggc ttctgttaaa aaaataaagt atattttata
     2821 tatacacaca cacacacaca cacacacaca gccattggaa tgaaaaaata atggataagc
     2881 taaacagcag attaaacaca atttaaagat taatgaactg gaagctatat ctaagaaatc
     2941 acttataatg taacactgag agacaaaagg atggaaaata ttacagggta gttaaaagtc
     3001 actggaaggc tgggtgtggt ggctcacgcc tgtaatccca gcactttggg aggctgagac
     3061 gggcgggtca cagggtcagg agatcgagac catcctggct aacacagtga aaccccatct
     3121 ctactaaaaa tacaaaaaaa aattagctgg gcgtggtggc gggcgcctgt agtcccagct
     3181 actagggagg ctgaggcaag agaatggcgt gaacccagga ggcggagctt gcagtgagcc
     3241 gagattgcac cactgcactc cagcctgggc tacagagcga gactccgtct cggaaaaaaa
     3301 aaaaaaaaaa ggtcactgga agactgggtg tggtggctta tgcctgtaat cccagcattt
     3361 tgggaggcta aggcaggagg atcacttgag gccaggagtt tgagaccagc ctaacagcaa
     3421 gaccctgcct cttaaaaaaa ataataaaaa aataagctgg gtgtagtggc tcatgcttgt
     3481 agttccagct attcaggagg ctgaggtgag aggatcattt gagcccagga gttggaggct
     3541 gcagtgatcg tgccactgca ctccagcctt ggtgacagag caagagaccc tgtctcaaag
     3601 aaaaagacag ataagtcctt gggagtctca gacggaggac atacatagag aatgaacaag
     3661 aagcaataac caaagagata atggctgaaa attttccata aagacttcca cagacttcaa
     3721 ctccccagat tgaaggaaca aactgaagtc agagtagggt aaataaaaat aaatatatat
     3781 ctggatatat cccattgaaa ccacagaata taaaaagcaa atcttataaa taactggaga
     3841 gaaaagtcag attcacggtg ttctgtcaaa gtgttcatgt agactaaggg tggggaaact
     3901 ttctgtaaag ggctggagaa taattatttt cagctttgag gctttggtct ctgttgcagc
     3961 tgctcacgca actctgctgt tgaagtttgt agtgcaaagt caagtcaaca aatgagtgtg
     4021 gctatatcag aaattttaat aaataacagt aaaacttca
//
