LOCUS       NM_001394065            4831 bp    mRNA    linear   PRI 02-JUN-2024
DEFINITION  Homo sapiens coiled-coil domain containing 190 (CCDC190),
            transcript variant 1, mRNA.
ACCESSION   NM_001394065
VERSION     NM_001394065.1
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 4831)
  AUTHORS   Peters,U., Jiao,S., Schumacher,F.R., Hutter,C.M., Aragaki,A.K.,
            Baron,J.A., Berndt,S.I., Bezieau,S., Brenner,H., Butterbach,K.,
            Caan,B.J., Campbell,P.T., Carlson,C.S., Casey,G., Chan,A.T.,
            Chang-Claude,J., Chanock,S.J., Chen,L.S., Coetzee,G.A.,
            Coetzee,S.G., Conti,D.V., Curtis,K.R., Duggan,D., Edwards,T.,
            Fuchs,C.S., Gallinger,S., Giovannucci,E.L., Gogarten,S.M.,
            Gruber,S.B., Haile,R.W., Harrison,T.A., Hayes,R.B., Henderson,B.E.,
            Hoffmeister,M., Hopper,J.L., Hudson,T.J., Hunter,D.J.,
            Jackson,R.D., Jee,S.H., Jenkins,M.A., Jia,W.H., Kolonel,L.N.,
            Kooperberg,C., Kury,S., Lacroix,A.Z., Laurie,C.C., Laurie,C.A., Le
            Marchand,L., Lemire,M., Levine,D., Lindor,N.M., Liu,Y., Ma,J.,
            Makar,K.W., Matsuo,K., Newcomb,P.A., Potter,J.D., Prentice,R.L.,
            Qu,C., Rohan,T., Rosse,S.A., Schoen,R.E., Seminara,D.,
            Shrubsole,M., Shu,X.O., Slattery,M.L., Taverna,D., Thibodeau,S.N.,
            Ulrich,C.M., White,E., Xiang,Y., Zanke,B.W., Zeng,Y.X., Zhang,B.,
            Zheng,W. and Hsu,L.
  CONSRTM   Colon Cancer Family Registry and the Genetics and Epidemiology of
            Colorectal Cancer Consortium
  TITLE     Identification of Genetic Susceptibility Loci for Colorectal Tumors
            in a Genome-Wide Meta-analysis
  JOURNAL   Gastroenterology 144 (4), 799-807 (2013)
   PUBMED   23266556
  REMARK    Review article
REFERENCE   2  (bases 1 to 4831)
  AUTHORS   Lin,H.J., Huang,Y.C., Lin,J.M., Wu,J.Y., Chen,L.A., Lin,C.J.,
            Tsui,Y.P., Chen,C.P. and Tsai,F.J.
  TITLE     Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are
            associated with susceptibility of type 2 diabetes with cataract
  JOURNAL   Mol Vis 16, 1206-1214 (2010)
   PUBMED   20664687
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4831)
  AUTHORS   Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL392003.11.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.139985.1,
                                           SRR1803614.213821.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2146982
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000367912.7/
                                                ENSP00000356888.3
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               AL392003.11        128076-128243
            169-367             AL392003.11        129593-129791
            368-491             AL392003.11        133496-133619
            492-4831            AL392003.11        133892-138231
FEATURES             Location/Qualifiers
     source          1..4831
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..4831
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="coiled-coil domain containing 190"
                     /db_xref="GeneID:339512"
                     /db_xref="HGNC:HGNC:28736"
     exon            1..168
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            169..367
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /inference="alignment:Splign:2.1.0"
     CDS             181..1086
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 190"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 190
                     isoform 1"
                     /protein_id="NP_001380994.1"
                     /db_xref="CCDS:CCDS91094.1"
                     /db_xref="GeneID:339512"
                     /db_xref="HGNC:HGNC:28736"
                     /translation="MERHMVRGQLYKHFDLERKNAKQAEARLDQRLQRLKVICLYHVK
                     LLTWEQRQLQKELQRLQQETMKKKFSSYLGNGFQKRPEDVLVFSPQGRQKHRAPQAKK
                     MRALATRMAQDTCKSKSQVPPSHDAGLKDPMKSKKQPLSQNNRTACFIKEQPQAQEKD
                     SVNPSKDVDPSKGISVPCQNQEVSTNTIEQGPSSSPASDSGMACADETRSKDVALKPD
                     GNTGKQIPPKHMECAGSFEGEFTKPTFLELLSKARNAHYLRHRVPPESERLLSIGEIF
                     GHGESSSSRAGKECENRVPSKFLPL"
     exon            368..491
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            492..4831
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1162..1167
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="hexamer: AATACA"
     polyA_site      1183
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="major polyA site"
     regulatory      1532..1537
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="hexamer: AAGAAA"
     polyA_site      1555
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="major polyA site"
     regulatory      2004..2009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="hexamer: AATAAA"
     polyA_site      2030
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
     regulatory      4811..4816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="hexamer: AATAAA"
     polyA_site      4831
                     /gene="CCDC190"
                     /gene_synonym="C1orf110"
                     /note="major polyA site"
ORIGIN      
        1 gtatttaaca ttctcctcgc agccctctcc aatggtctcc ctctatcctt tctccaaaca
       61 ccaaactcct aagtttactg aagaaaaata agctcattaa tcaagactca gtctgacata
      121 gcaaaagaaa caagacatag tctcatggtg aaaactctgg atttggagac cataaagaag
      181 atggagaggc acatggtcag gggacaattg tataagcatt ttgatttgga gaggaagaat
      241 gccaagcagg ctgaagccag actggaccaa agactgcaga gactaaaggt tatttgcctc
      301 taccatgtga aattgctgac ctgggagcag aggcagctcc aaaaagaact gcagaggttg
      361 cagcaagaaa ccatgaagaa aaagttctcc tcttatttgg ggaatggatt tcagaagaga
      421 ccagaagatg ttctcgtgtt ctcaccacag ggaaggcaga agcacagagc cccacaggct
      481 aagaaaatga gagcattggc aacccgtatg gcccaagaca catgcaaaag caagtcccag
      541 gtgcctcctt cacatgatgc tggcctcaaa gaccccatga agagcaaaaa gcagccactc
      601 tctcaaaata acagaactgc ctgcttcata aaagagcaac cacaagccca agagaaagat
      661 tctgtgaatc catctaagga cgtagacccc agcaagggca tctctgttcc atgccaaaat
      721 caagaggttt ccaccaacac catagaacaa ggtcctagtt ccagcccagc tagtgatagt
      781 ggaatggcat gtgctgatga gaccagatca aaagatgttg ctctaaagcc agatgggaac
      841 actggaaaac aaattccccc aaaacacatg gaatgtgcag gaagcttcga aggcgagttc
      901 acaaagccaa ccttcttaga gttgctttca aaggccagaa atgcccatta tctccggcac
      961 agggtccccc ctgagtctga gaggttgctt agcattggag agatatttgg gcatggggaa
     1021 tcctcatcat ccagggcagg aaaggagtgt gaaaacaggg tgccttctaa gtttcttcct
     1081 ctctaaccgt ttaacatagc ctgacaataa catatgccat tattgctaag gaaatgtgtt
     1141 cctcaaatga ctatattaag caatacagag aaaaacaaac aaacataatt gaattacaat
     1201 tttattttaa actccctatt attttccggg aatataatat ttcttgaatg aacaatgcta
     1261 atatatgaaa aaggagagga agaatgaatc ttctgaaaat attttaagtg atatgtttat
     1321 gatgtcatca aaaatatgaa tatatattga tgactggact tgggaaaaca gtaacagtct
     1381 tgctttcagg gacttcctgt ttcctctagg agattctcat ggtgccacct gctggcaaaa
     1441 cggcatagct attctctctg ttttagtttg atatatagta gtggtaggaa taggaatgtg
     1501 attgtaaata ggtactgtaa catggtctat aaagaaaatc tgctctttaa ccacacccac
     1561 gtgctctctt tggaagccct ttccttcctt cctttattta cagatagctc cattttagtt
     1621 ttcaccctcc cactttcaac ctgctcatat caaatttttt gaatcctatt gaaagaataa
     1681 tggacaatct tttccctctc atatcttcta gaatcaaagg atttaaaaaa cttttaatca
     1741 tctcccaaca tgctgtcaaa tgcatagcag actctatcaa aatgatttca ctgtaaaatg
     1801 agaggtacta acattgttaa caagctattg tttcaagtag gcctctatgt cttgggctac
     1861 actgtaaaag aatcgattag attttgtttc ccatccaaca gacccaaata tcactctaaa
     1921 aataagtagt atcataagtc attagaaaat aatagctttt tgttaatgcg ttttaaactt
     1981 actgtctacc taatgaagtg tagaataaaa tcatcaccac tttttatcta tactgactct
     2041 atcaggaaaa ccatcttgcc ccgtgggtct caaagaaatc atgcctctgt ggtgggtaaa
     2101 ttcaaatctt cagcccaata acaaacttta attccagaag aataaacttg agggcctatt
     2161 tcatctctgg catcaatagt tgatgtaacc cagcctggga tattttgatg aaacaagatt
     2221 atttagctca gaaatgataa aggaccccaa cctactaata ttacaaaggg cctgaaatga
     2281 agattaattc atatttaatt tatagttcat taaatataaa tttgaagtat atttaatttg
     2341 aaaacatttc atttaattca gatttagaat tccttgtgtt taaaaatagt aattcctaat
     2401 agctcctatt tttcagtacc tccccctatc ctgacacatt ccacacagca tgccaactga
     2461 tcctcaaaac aatgctgcaa aagttttctt tgcaaaatag ttttctttat ccccatttta
     2521 cagataagga aatagaggga agagtggtgg taacttgcta atagatggca gactagcatt
     2581 tgatctctct tctactcaat ttccttgctc atgctctttc attacaccac actaccacct
     2641 atctgaagac aaaaacttag atcaaacatt tgagagtcag tttcatcagc ccagcctctg
     2701 gccttcaatg gggagacaat actttatagt gaaaggaaca caagaaatct gcttcctcca
     2761 acactttctt ccatgaagca aagcaacaga ggaaggcagg ccataagtga cagaactgat
     2821 tgattcacaa aaacttaatt tatttgcacc agccatgcct gggccaacat gaataggcat
     2881 acaacaatta gagaacccct ttgtaaactg cgcaagctct ttcctaaaag ttctttcttc
     2941 ttgtcttcta cgcaagcctt gcctatcgtc atcacaattc tccctcaagg ctgagtcctg
     3001 agtgaatggt ttgtcactgc taagtgggtc ttttcactgt actagctctc acagcgggaa
     3061 ggggccatca caaggcagga gggagccaac ttcagcctag ttctctgttc caggtccacc
     3121 tcaatcctgc catctacaga agtgaacatt ctgcatgttc ctccttgcta tcttgcttgt
     3181 gtcttcatat acatctgaca gacccagatc tgtctgcact tctaaaatca atattttagt
     3241 acatcctgtt ttaaataata ttccatgcat cgccaaaaaa ttatacattt aaaaatcttc
     3301 taaccaccta gattttatct tcttatcatt tagtctaata catttgcctt cttcgataca
     3361 atggatgtaa tactctgatt agtacaactt aactcaatca aagagaacgc tgctgcatgg
     3421 aacctttctt gtgtaactca ttaaattcta aacagtttaa atccttaatc ctgacgtggc
     3481 acacggtgct ctaggatggc ttgctctcga ccagtccatg gccactttac ttataccagt
     3541 ggttctcagc taggagcaaa tgtgccccct gtccccagaa aacatccagc actgtccaga
     3601 gatatttctg gttgtcataa ctgaggtgag ggggctgcca ctggagtcta gtaggtaggg
     3661 accataaatt ctataataca tggggcagcc ctctaaaaca aagaattaac aagcccgaaa
     3721 catcaatagc gccaagattg gaaactccac cctgtgccat tacattaaat attcacagaa
     3781 ccttctgaga cagaaaatca gggagatact tgctgccatt ttacagataa agaaattgag
     3841 gctcatgata agtaaaatag ctttctccat accagaatgt ggatgaggaa caaagaccag
     3901 ggtactcttt tcccatactc tcctctcaaa gaagatgggg aagggcatgt gtccgatggc
     3961 tcctgccctc gttttcagtt aagaaatgct ttcaacccta caaatacaaa tctttaacat
     4021 tcaaattagt aacacatggt tagaagggat aatttatact tcaattttga ggaaacattt
     4081 tttattacat tcattcattc attcattcat tcagagatgt actggggaca gatgatccct
     4141 tccccatttc ctcccccatg aggaagaagg ggcttttgac ttgttgcctt aactcattca
     4201 atgggaaaag attccatttt tcacctacag gcagaggcag ctggaaactc ccagaagtag
     4261 aggctcagtc tctctggagg ctactgaaga gcaccctgaa gggtgtcaca atcctcagtg
     4321 ttgggggaaa gttgggtaag tttttaccat gaacactgga gggaccagct cctctcaggg
     4381 tgaaatgagc cttgaaggaa ggacagaggg aatcacgctt gggcaagtgt tttgccctca
     4441 caccaagagt accagggaag cagagggtac cagtccaaac agatgtcagc agctctatct
     4501 caccaatgac agccagaata gcaagcaacc actgcaaaaa aaaaaaaaaa aaaaaaaaaa
     4561 tggagaggaa ccagaggtgt gtggaccatt gcgtgaacca actcattccc tcacctccaa
     4621 ccacacctac tgggtcagac attcaggcac tgaagacaga ataagggaga gcgggcagcc
     4681 aggtcctcct tttctgcctg aggccactgc agtagaacag aagttccacg ggtggagaag
     4741 aaagacttta aactggatga gaaccataaa caataataac ctaaatgcag ttaaatgaat
     4801 atctaccgga aataaaactt ttaaaacaga a
//
