LOCUS       NM_005632               4888 bp    mRNA    linear   PRI 03-DEC-2024
DEFINITION  Homo sapiens calpain 15 (CAPN15), mRNA.
ACCESSION   NM_005632
VERSION     NM_005632.3
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 4888)
  AUTHORS   Beaman,M.M., Guidugli,L., Hammer,M., Barrows,C., Gregor,A., Lee,S.,
            Deak,K.L., McDonald,M.T., Jensen,C., Zaki,M.S., Masri,A.T.,
            Hobbs,C.A., Gleeson,J.G. and Cohen,J.L.
  TITLE     Novel association of Dandy-Walker malformation with CAPN15 variants
            expands the phenotype of oculogastrointestinal neurodevelopmental
            syndrome
  JOURNAL   Am J Med Genet A 191 (11), 2757-2767 (2023)
   PUBMED   37596828
  REMARK    GeneRIF: Novel association of Dandy-Walker malformation with CAPN15
            variants expands the phenotype of oculogastrointestinal
            neurodevelopmental syndrome.
REFERENCE   2  (bases 1 to 4888)
  AUTHORS   Mor-Shaked,H., Salah,S., Yanovsky-Dagan,S., Meiner,V.,
            Atawneh,O.M., Abu-Libdeh,B., Elpeleg,O. and Harel,T.
  TITLE     Biallelic deletion in a minimal CAPN15 intron in siblings with a
            recognizable syndrome of congenital malformations and developmental
            delay
  JOURNAL   Clin Genet 99 (4), 577-582 (2021)
   PUBMED   33410501
  REMARK    GeneRIF: Biallelic deletion in a minimal CAPN15 intron in siblings
            with a recognizable syndrome of congenital malformations and
            developmental delay.
REFERENCE   3  (bases 1 to 4888)
  AUTHORS   Zha,C., Farah,C.A., Holt,R.J., Ceroni,F., Al-Abdi,L., Thuriot,F.,
            Khan,A.O., Helaby,R., Levesque,S., Alkuraya,F.S., Kraus,A.,
            Ragge,N.K. and Sossin,W.S.
  TITLE     Biallelic variants in the small optic lobe calpain CAPN15 are
            associated with congenital eye anomalies, deafness and other
            neurodevelopmental deficits
  JOURNAL   Hum Mol Genet 29 (18), 3054-3063 (2020)
   PUBMED   32885237
  REMARK    GeneRIF: Biallelic variants in the small optic lobe calpain CAPN15
            are associated with congenital eye anomalies, deafness and other
            neurodevelopmental deficits.
REFERENCE   4  (bases 1 to 4888)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 4888)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 4888)
  AUTHORS   Li,J., Glessner,J.T., Zhang,H., Hou,C., Wei,Z., Bradfield,J.P.,
            Mentch,F.D., Guo,Y., Kim,C., Xia,Q., Chiavacci,R.M., Thomas,K.A.,
            Qiu,H., Grant,S.F., Furth,S.L., Hakonarson,H. and Sleiman,P.M.
  TITLE     GWAS of blood cell traits identifies novel associated loci and
            epistatic interactions in Caucasian and African-American children
  JOURNAL   Hum Mol Genet 22 (7), 1457-1464 (2013)
   PUBMED   23263863
REFERENCE   7  (bases 1 to 4888)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
REFERENCE   8  (bases 1 to 4888)
  AUTHORS   Kamei,M., Webb,G.C., Young,I.G. and Campbell,H.D.
  TITLE     SOLH, a human homologue of the Drosophila melanogaster small optic
            lobes gene is a member of the calpain and zinc-finger gene families
            and maps to human chromosome 16p13.3 near CATM (cataract with
            microphthalmia)
  JOURNAL   Genomics 51 (2), 197-206 (1998)
   PUBMED   9722942
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z98882.4 and Z97986.3.
            
            On Nov 25, 2018 this sequence version replaced NM_005632.2.
            
            Summary: This gene encodes a protein containing zinc-finger-like
            repeats and a calpain-like protease domain. The encoded protein may
            function as a transcription factor, RNA-binding protein, or in
            protein-protein interactions during visual system development.
            [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: U85647.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219611.7/ ENSP00000219611.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-318               Z98882.4           32694-33011
            319-371             Z97986.3           2521-2573
            372-485             Z97986.3           4604-4717
            486-1956            Z97986.3           15392-16862
            1957-2165           Z97986.3           17568-17776
            2166-2349           Z97986.3           17863-18046
            2350-2573           Z97986.3           18190-18413
            2574-2699           Z97986.3           19877-20002
            2700-2852           Z97986.3           20087-20239
            2853-3014           Z97986.3           20626-20787
            3015-3244           Z97986.3           20876-21105
            3245-3411           Z97986.3           21180-21346
            3412-3590           Z97986.3           21438-21616
            3591-4888           Z97986.3           21914-23211
FEATURES             Location/Qualifiers
     source          1..4888
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..4888
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /note="calpain 15"
                     /db_xref="GeneID:6650"
                     /db_xref="HGNC:HGNC:11182"
                     /db_xref="MIM:603267"
     exon            1..318
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            319..371
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            372..485
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            486..1956
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     CDS             508..3768
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /note="small optic lobes homolog"
                     /codon_start=1
                     /product="calpain-15"
                     /protein_id="NP_005623.1"
                     /db_xref="CCDS:CCDS10410.1"
                     /db_xref="GeneID:6650"
                     /db_xref="HGNC:HGNC:11182"
                     /db_xref="MIM:603267"
                     /translation="MATVGEWSCVRCTFLNPAGQRQCSICEAPRHKPDLNHILRLSVE
                     EQKWPCARCTFRNFLGKEACEVCGFTPEPAPGAAFLPVLNGVLPKPPAILGEPKGSCQ
                     EEAGPVRTAGLVATEPARGQCEDKDEEEKEEQEEEEGAAEPRGGWACPRCTLHNTPVA
                     SSCSVCGGPRRLSLPRIPPEALVVPEVVAPAGFHVVPAAPPPGLPGEGAEANPPATSQ
                     GPAAEPEPPRVPPFSPFSSTLQNNPVPRSRREVPPQLQPPVPEAAQPSPSAGCRGAPQ
                     GSGWAGASRLAELLSGKRLSVLEEEATEGGTSRVEAGSSTSGSDIIDLAGDTVRYTPA
                     SPSSPDFTTWSCAKCTLRNPTVAPRCSACGCSKLHGFQEHGEPPTHCPDCGADKPSPC
                     GRSCGRVSSAQKAARVLPERPGQWACPACTLLNALRAKHCAACHTPQLLVAQRRGAAP
                     LRRRESMHVEQRRQTDEGEAKALWENIVAFCRENNVSFVDDSFPPGPESVGFPAGDSV
                     QQRVRQWLRPQEINCSVFRDHRATWSVFHTLRPSDILQGLLGNCWFLSALAVLAERPD
                     LVERVMVTRSLCAEGAYQVRLCKDGTWTTVLVDDMLPCDEAGCLLFSQAQRKQLWVAL
                     IEKALAKLHGSYFALQAGRAIEGLATLTGAPCESLALQLSSTNPREEPVDTDLIWAKM
                     LSSKEAGFLMGASCGGGNMKVDDSAYESLGLRPRHAYSILDVRDVQGTRLLRLRNPWG
                     RFSWNGSWSDEWPHWPGHLRGELMPHGSSEGVFWMEYGDFVRYFDSVDICKVHSDWQE
                     ARVQGCFPSSASAPVGVTALTVLERASLEFALFQEGSRRSDAVDSHLLDLCILVFRAT
                     FGSGGHLSLGRLLAHSKRAVKKFVSCDVMLEPGEYAVVCCAFNHWGPPLPGTPAPQAS
                     SPSAGVPRASPEPPGHVLAVYSSRLVMVEPVEAQPTTLADAIILLTESRGERHEGREG
                     MTCYYLTHGWAGLIVVVENRHPKAYLHVQCDCTDSFNVVSTRGSLRTQDSVPPLHRQV
                     LVILSQLEGNAGFSITHRLAHRKAAQAFLSDWTASKGTHSPPLTPEVAGLHGPRPL"
     exon            1957..2165
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2166..2349
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2350..2573
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2574..2699
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2700..2852
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2853..3014
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            3015..3244
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            3245..3411
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            3412..3590
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     exon            3591..4888
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4866..4871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /note="hexamer: AATAAA"
     polyA_site      4888
                     /gene="CAPN15"
                     /gene_synonym="OGIN; SOLH"
                     /note="major polyA site"
ORIGIN      
        1 gtagtccggg cgcgcgattc acagcgccgc gtgcgccccg ggcgcgccgt agccgcgggg
       61 cccgggccgg gcgctacgct acgaaggcag cgtaaggcgg gcgccggacg cgggcagggg
      121 ccggggccgg agccgggtcg gggcgccccg cggctgagga gcgggaggcc gtccgggcag
      181 cgcggccggc ggcgagaggg gccccgccgc tctccggagg cagaagttgt ggatcggccg
      241 gcgggggcga gcgggcccgg gggccggggc cgcgctgccc gggccgcgag gacgaggcgg
      301 cgccgccggg ctgtggaggc agcagcccag acgcggcaca gagagggcct gggagcttgc
      361 tgcagcttca gacagggagc caggatggga accacggact gacctgacct gcgtcctcgg
      421 ggccactgca ctgggtgatt cacgtgtgcc caggccctga ggtgggccgg acctgggagt
      481 ggcagccaca cccactcgcc cgggtctatg gccacggtcg gagagtggtc ctgtgtgcgc
      541 tgcaccttcc tgaacccggc cggccagcgc cagtgctcca tctgcgaggc tccccggcac
      601 aagcccgacc tcaaccacat cctgcggctc agcgtggagg agcagaaatg gccctgcgcc
      661 cgctgcacct tccgcaactt cctgggcaag gaggcctgcg aggtgtgcgg cttcaccccg
      721 gagcctgcgc ctggggctgc cttcctgcca gtcctcaacg gggtcctccc caagccaccc
      781 gccatcctgg gggagcccaa gggcagctgc caggaggaag caggtccagt gaggactgcg
      841 gggctggtgg ccacggagcc cgccaggggg cagtgcgagg acaaggacga ggaggagaag
      901 gaggagcagg aggaggagga gggagcggcg gagcccagag ggggctgggc gtgtccgcgt
      961 tgcacgctgc acaacacgcc cgtggccagc tcctgctccg tctgcggggg cccacgcagg
     1021 ctctcgctgc cacggatccc tcctgaggcc ctggtggtcc cggaagtggt ggccccggcc
     1081 ggcttccacg tcgtgcctgc cgcgcctcca cctggcctcc ccggggaagg tgccgaggcc
     1141 aaccccccag ccaccagcca gggcccagct gccgaaccag agccgcccag ggtcccgccc
     1201 ttcagcccct tctcgtccac cctgcagaac aaccccgtgc cgcgcagccg acgcgaggtt
     1261 cccccccagc tgcagccacc ggtgcctgag gctgcccagc cgtcaccctc tgccggctgc
     1321 aggggagccc cccagggctc gggctgggct ggggcctccc gcctagcaga gttgctgtct
     1381 ggcaagcggc tgagtgtgct ggaggaagag gccacggagg gtggcaccag ccgcgtagag
     1441 gccggcagct ccacctcggg cagtgacatc attgacctgg ccggagacac cgtgcgttac
     1501 acgcccgcca gcccctccag ccccgacttc accacctggt catgtgccaa gtgcacgctc
     1561 agaaacccca cagtggcccc caggtgctcg gcctgcggct gctccaaact gcacggcttc
     1621 caggagcatg gcgagccccc cacccactgc cccgactgtg gggccgacaa gcccagcccc
     1681 tgcggcagaa gctgcggacg ggtgtcctcg gcccagaagg ccgcccgcgt cctgcccgag
     1741 cgcccgggcc agtgggcctg ccctgcctgt accctgctca acgcactgcg ggccaagcac
     1801 tgcgccgcct gccacacgcc tcagctcctg gtggcccagc ggcggggggc cgcgcccctg
     1861 aggcgcaggg agagcatgca cgtggagcag cggcggcaga cagacgaggg cgaggccaag
     1921 gcactctggg agaacatcgt ggccttctgc cgggagaaca atgtgagctt cgtggatgac
     1981 agcttccctc ccgggcccga gtctgtcggc ttccccgcgg gtgacagcgt gcagcagcgt
     2041 gtgaggcagt ggctgcgacc ccaggagatc aactgctccg tcttcaggga ccacagggcc
     2101 acgtggtctg tgttccacac actgcggccc tcagacatcc tgcaggggct gctggggaac
     2161 tgctggttcc tgagcgccct ggcggtgctg gcggagcggc cggacctggt ggagcgggtg
     2221 atggtcacgc gcagcctgtg tgcagagggc gcctaccagg tgcggctgtg caaggacggc
     2281 acgtggacca cggtgctggt ggacgacatg ctgccctgtg atgaggccgg ctgcctcctc
     2341 ttctcacagg cgcagcggaa gcagctgtgg gtggccctca tcgagaaggc gctggccaag
     2401 ctgcacggct cctactttgc gctccaggcg ggccgcgcca tcgaaggcct ggccacgctc
     2461 accggcgccc cctgtgagag cctggcgctg cagctcagct ccactaaccc ccgcgaggag
     2521 cccgttgaca ctgacctcat ctgggccaaa atgctgagtt ctaaggaggc tgggttcctc
     2581 atgggtgcct cctgtggcgg gggcaacatg aaggtggacg attcggccta cgagagcctg
     2641 ggcctgcgcc cccggcatgc ctactccatc ctggatgtcc gagatgtcca gggcaccagg
     2701 cttctgcggc tccgaaaccc gtggggccgt ttctcctgga acggcagctg gtccgacgag
     2761 tggccacact ggccggggca cctgcgtggc gagctcatgc cgcacggcag cagtgagggt
     2821 gtcttctgga tggagtacgg cgactttgtc aggtacttcg actccgtgga catctgtaag
     2881 gtgcactcgg actggcagga ggcgcgggtg cagggctgct ttcccagctc ggccagcgcg
     2941 cccgtggggg taacagcgct cacggtgctg gagcgggcct cgctggagtt cgcgctcttc
     3001 caggagggca gcaggcgctc ggacgccgtg gacagccacc tgctggacct gtgcatcctg
     3061 gtgttccggg ccacgttcgg cagcggcggc cacctcagcc tgggccgcct cctggcccac
     3121 agtaagcgcg cggtcaagaa gttcgtcagc tgcgacgtca tgctggagcc tggcgagtac
     3181 gctgtggtgt gctgcgcctt caaccactgg gggccgcccc tgccgggcac ccctgccccc
     3241 caggcctcca gcccctcggc aggggtcccg agagcctccc cagagccgcc gggccacgtg
     3301 ctggctgtgt acagctcgag gctggtcatg gtggagcccg tggaagccca gccgaccacg
     3361 ctggccgacg ccatcatcct gctcaccgag agccgcggag agcggcacga gggccgtgag
     3421 ggcatgacct gctactacct gacacacggt tgggcggggc tcatcgtggt ggtggagaac
     3481 cgacacccca aggcctacct gcacgtgcag tgtgactgca ccgacagctt caacgtggtg
     3541 tccacacgcg gcagcctgcg tacccaggat agcgtgccac ccctgcacag gcaggtcctg
     3601 gtgatcttgt cccagctaga gggcaacgcc ggcttctcta tcacccaccg cctggcacat
     3661 cgcaaggcag cccaggcctt cctcagtgac tggacagcct ccaaggggac ccacagcccc
     3721 ccactcacgc cagaggtcgc cggtctgcat gggccccgac cgctgtgacc accatgcctg
     3781 gggcaggggc tgtgcacaga cggacccccc acccccacac gcactttatg agggagaccc
     3841 cgacagagga cgcttgagcc agaatctcag gaccccgccc agggagctgc cagcccaggg
     3901 ctcagcttcc catgggcccc ccgcccccct ccttcccctc cctgaacccc acagtccgcc
     3961 tggccaggcc tcctggccgc cacgcagaat acctcgaacc aggcgggctg tgaaccagcc
     4021 ccgctcacct gccagcccca acacccgacg ggggccgagg ccaggctgcc cctccctgtg
     4081 ggctcagggt ctcctgcggg ctaggcagcc aggagctctg tccgcaaaac caaatctggg
     4141 tgtcagaggc caagaccctg gggtgggatc agggaccacc cctcacgggg cataaggtca
     4201 gttttccccc agagcccggg tccctgtccc ccacagggca ggcggggtcc ctggagccct
     4261 ggtgtggagc ggcgagtccc ggggcggtgc ctgtctcaga agaaggggcc cttggccagc
     4321 cccccagcga cactatgcaa atcctggagt gcccgccagg atcgaagcca tgactgggtg
     4381 caggcgggcg ccaggcccgc tgtgggtggg caccagttct cagcaccgct cactgctgcc
     4441 gggcacactg ggaccagcag gctcctcagc caaccctgtc cctcggcccg gccctgccag
     4501 agagggaccc cagcacatcg tgggcacggg cagggctcag ccgctcccac ctccccacag
     4561 aagcccagga gtgtgtggac gtctgagccc agctttctgc gtgccctcct ggcccctcac
     4621 tcccggcagc gggccggcct cgcccccact ccccctccta ccccggcagg ggcttccggg
     4681 gccttttcac ctggagaaac attcccactc ccctttggcc tccctgtact ctgagctgtg
     4741 aatattttta accctgtaaa tacggccagc tcttgtgaca cagagactat tttatcaatt
     4801 gtcagtcccg ttcctttacc ataggattct ccacagtggc ttccgactca ggctccaatg
     4861 gaccaaataa aagcgttttg ttttgtaa
//
