LOCUS       NM_001164399            2591 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens coiled-coil domain containing 175 (CCDC175), mRNA.
ACCESSION   NM_001164399 XM_001723715 XM_001726944 XM_001726950
VERSION     NM_001164399.2
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 2591)
  AUTHORS   Donato,L., Alibrandi,S., Scimone,C., Rinaldi,C., Dascola,A.,
            Calamuneri,A., D'Angelo,R. and Sidoti,A.
  TITLE     The impact of modifier genes on cone-rod dystrophy heterogeneity:
            An explorative familial pilot study and a hypothesis on
            neurotransmission impairment
  JOURNAL   PLoS One 17 (12), e0278857 (2022)
   PUBMED   36490268
  REMARK    GeneRIF: The impact of modifier genes on cone-rod dystrophy
            heterogeneity: An explorative familial pilot study and a hypothesis
            on neurotransmission impairment.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2591)
  AUTHORS   Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C.,
            Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A.,
            Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S.,
            Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C.,
            Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P.,
            Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N.,
            Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C.,
            Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S.,
            Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T.,
            Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M.,
            Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S.,
            Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C.,
            Muselet,D., Magdelenat,G., Pateau,E., Petit,E.,
            Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E.,
            Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T.,
            Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D.,
            Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J.,
            Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J.,
            Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P.,
            Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. doi:
            10.1038/s41586-023-06403-y.. PMID: 37491470]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL121694.4.
            
            On Nov 22, 2018 this sequence version replaced NM_001164399.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968968
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000537690.7/ ENSP00000453940.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-194               AL121694.4         99037-99230
            195-280             AL121694.4         100821-100906
            281-392             AL121694.4         103036-103147
            393-528             AL121694.4         107469-107604
            529-757             AL121694.4         110574-110802
            758-880             AL121694.4         111990-112112
            881-990             AL121694.4         114621-114730
            991-1072            AL121694.4         124413-124494
            1073-1209           AL121694.4         130550-130686
            1210-1320           AL121694.4         132395-132505
            1321-1392           AL121694.4         135103-135174
            1393-1528           AL121694.4         137009-137144
            1529-1660           AL121694.4         137695-137826
            1661-1799           AL121694.4         143939-144077
            1800-1879           AL121694.4         148675-148754
            1880-2032           AL121694.4         150415-150567
            2033-2135           AL121694.4         154173-154275
            2136-2179           AL121694.4         164046-164089
            2180-2342           AL121694.4         165041-165203
            2343-2591           AL121694.4         170534-170782
FEATURES             Location/Qualifiers
     source          1..2591
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.1"
     gene            1..2591
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /note="coiled-coil domain containing 175"
                     /db_xref="GeneID:729665"
                     /db_xref="HGNC:HGNC:19847"
     exon            1..194
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..2419
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 175"
                     /protein_id="NP_001157871.1"
                     /db_xref="CCDS:CCDS53898.1"
                     /db_xref="GeneID:729665"
                     /db_xref="HGNC:HGNC:19847"
                     /translation="MALSPWTPGLGAGEKLVQAAAVSTGPSLELCTLPSTLGSSVAVE
                     ALEQLFVVEQSLQSDYFKCNEEAKIFLKDIAVAVKKLEEMRKATIDLLEIESMELNKL
                     YYLLETLPNSIKRELEECVRDARRLNLFEINTIKMRITRTENEIELLKKKITDLTKYN
                     EALGEKQEELARKHARFVLSLNQTMEKKATTTVYINETYTKINLKREDIALQKKCIQE
                     AEELMEKERAEYLIRKQELTAQINEFENTREVKRMETYQKKKELDKLQTKMSKIKETV
                     TVSAAVLSDHNLEIARLHESIRYWEQEVSELKKDLAILEAKLCFFTDNKEKLDDISND
                     EKNEFLNKIKQLVETLHAARMEYKDLREKMKTLARQYKIVLSEEEKAFLQKQKIHDEN
                     QKQLTFISQKEYFLSQKRVDIKNMEEGLITLQELQQATKTVYQQQIKILSANLERESQ
                     RCVITQWKMACLRKKHARWTAKIKAEIQAITEKIQNAEVRRIELLNETSFRQQEISGF
                     VAQIEKLTTELKEEEKAFVNKEKMLMKELSKYEEIFVKETQINKEKEEELVEYLPQLQ
                     VAEQEYKEKRRKLEELSNIITAQRQEEDLLNNHIFLFTRDFSRYISNMEDVKQELQQL
                     RDQESKKNKDHFETLKNLENGFYINDQKADLLLLENKKLKEYILYLKNNIEKYREGQE
                     ALMHTSSDLSRQLIAQEAQYKDLWAEFQTTVKILVDNGEETLQDINNLTDKLRERDEK
                     MQHVSTWLRGSLEGLRLLVEQESPMDLLKKKKHIRTRVHFPVVKCTEKNTLTK"
     exon            195..280
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            281..392
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            393..528
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            529..757
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            758..880
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            881..990
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1072
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1209
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1320
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1392
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1528
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            1529..1660
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            1661..1799
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..1879
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            1880..2032
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            2033..2135
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            2136..2179
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            2180..2342
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     exon            2343..2591
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2565..2570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /note="hexamer: AATAAA"
     polyA_site      2591
                     /gene="CCDC175"
                     /gene_synonym="C14orf38; c14_5395"
                     /note="major polyA site"
ORIGIN      
        1 ggctctggct taggaggcgc tcaagtagag cggcaaaatg gccctgagcc cctggacccc
       61 agggctgggc gctggcgaga agctggtgca ggcggctgcc gtctccactg gcccctccct
      121 ggagttatgc accttaccct ccaccctggg ctcctcggtc gcggtcgagg cgctggagca
      181 gctgtttgtt gtggaacaat cactgcaaag tgactatttt aaatgtaatg aagaagctaa
      241 gatctttctt aaggacattg ctgtagctgt taagaaattg gaagaaatga gaaaagccac
      301 aatcgatctt ttggagattg aaagcatgga actcaacaaa ctatactatc tattggaaac
      361 tcttcccaat agcattaaga gggaattgga agaatgtgtc cgagacgctc gcagattaaa
      421 tctttttgag ataaatacaa taaaaatgag aattacaagg acagagaatg aaatagagct
      481 tctgaagaag aaaataactg acctgacaaa atataatgaa gctctggggg agaagcagga
      541 agagctagca aggaagcatg caaggtttgt cctgtcactc aaccaaacta tggagaaaaa
      601 agccaccacc actgtttaca taaatgagac ttataccaaa ataaacttga agagagaaga
      661 catagcattg caaaaaaaat gtattcaaga ggcagaggag ctaatggaaa aagaaagggc
      721 agaatatcta ataagaaaac aagagttgac tgcacagatt aatgaatttg aaaatacccg
      781 tgaagtaaag agaatggaga cttatcaaaa gaagaaagaa ttggataaat tacaaactaa
      841 aatgtcaaaa ataaaagaaa cagttactgt ttccgcagcg gttcttagtg atcacaattt
      901 agagatagca cgactacacg aatcaataag gtattgggaa caagaggtca gtgagctaaa
      961 gaaagacctt gcaattctgg aggcgaaact gtgttttttc acagataaca aagaaaaact
     1021 agatgatata tctaatgatg aaaaaaatga attcctgaac aagataaaac agctggttga
     1081 aacactgcat gctgctcgta tggaatacaa agacctacga gagaaaatga aaactcttgc
     1141 cagacaatat aagattgttt taagtgagga agaaaaagct tttttgcaaa aacaaaagat
     1201 tcatgatgaa aatcagaaac agctgacatt tatttctcag aaagaatact ttctgtcaca
     1261 aaagagagta gacatcaaaa atatggaaga aggactcatc acactccagg aacttcaaca
     1321 agcaacaaaa acagtgtatc agcaacaaat caaaatcctg agtgctaacc tggaaagaga
     1381 aagtcagaga tgtgttataa ctcagtggaa aatggcttgc ttgagaaaaa agcatgcacg
     1441 ttggacagcc aagataaaag ctgaaataca agctattaca gaaaaaattc agaatgcaga
     1501 agttagacga attgaattac ttaacgagac cagtttcaga caacaggaga tcagtggatt
     1561 tgtggcacag attgaaaaac ttacaacaga attaaaagaa gaggagaaag catttgttaa
     1621 caaagaaaaa atgttaatga aagagttaag caagtatgag gaaatatttg ttaaggaaac
     1681 acaaattaac aaagaaaagg aagaagaact agttgagtat cttccacaac ttcaggtggc
     1741 agaacaagag tataaagaga aaagaagaaa gttagaagag ctcagtaata ttattacagc
     1801 acaaagacag gaggaagatt tactgaacaa tcacattttt ctgtttacaa gggacttttc
     1861 aagatacatt agcaacatgg aagatgtaaa acaagaatta caacaattac gagatcaaga
     1921 aagcaaaaaa aacaaagatc attttgaaac tctaaagaac ttagaaaatg gattctatat
     1981 aaatgaccaa aaagcagatc ttctgctcct ggaaaataaa aaattaaaag aatatatttt
     2041 atacttgaag aataacatag agaaatacag agaaggacaa gaagccctca tgcacacctc
     2101 aagcgacttg tctcggcaac taatagctca ggaggcacaa tataaggatt tgtgggctga
     2161 atttcagacc acagttaaga tcttggtgga caatggtgaa gagaccttgc aagacataaa
     2221 caatctaaca gacaagctgc gtgaaagaga tgaaaaaatg cagcatgtca gtacatggct
     2281 acgagggagt cttgaagggc tgcgtttgct tgtggaacag gaatcaccaa tggaccttct
     2341 taagaagaag aaacacattc gtacaagggt tcatttccca gtggttaaat gtactgagaa
     2401 aaatacatta acaaagtaac tcaaggatac aactgctgtg aattcaaaag acagactact
     2461 acaggaaaag tgagtgcact tactttcata ttttgcagct gttaatagaa gtcttaaaca
     2521 tttaaaattt aactaattca cacaacctcc accaagtatc agtaaataaa cttctaaaca
     2581 ataaaaatgg a
//
