LOCUS       NM_182496               1918 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.
ACCESSION   NM_182496
VERSION     NM_182496.3
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 1918)
  AUTHORS   Chung,S.A., Brown,E.E., Williams,A.H., Ramos,P.S., Berthier,C.C.,
            Bhangale,T., Alarcon-Riquelme,M.E., Behrens,T.W., Criswell,L.A.,
            Graham,D.C., Demirci,F.Y., Edberg,J.C., Gaffney,P.M., Harley,J.B.,
            Jacob,C.O., Kamboh,M.I., Kelly,J.A., Manzi,S., Moser-Sivils,K.L.,
            Russell,L.P., Petri,M., Tsao,B.P., Vyse,T.J., Zidovetzki,R.,
            Kretzler,M., Kimberly,R.P., Freedman,B.I., Graham,R.R. and
            Langefeld,C.D.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
  TITLE     Lupus nephritis susceptibility loci in women with systemic lupus
            erythematosus
  JOURNAL   J Am Soc Nephrol 25 (12), 2859-2870 (2014)
   PUBMED   24925725
REFERENCE   2  (bases 1 to 1918)
  AUTHORS   Firat-Karalar,E.N., Sante,J., Elliott,S. and Stearns,T.
  TITLE     Proteomic analysis of mammalian sperm cells identifies new
            components of the centrosome
  JOURNAL   J Cell Sci 127 (Pt 19), 4128-4133 (2014)
   PUBMED   25074808
REFERENCE   3  (bases 1 to 1918)
  AUTHORS   Wain,L.V., Sayers,I., Soler Artigas,M., Portelli,M.A., Zeggini,E.,
            Obeidat,M., Sin,D.D., Bosse,Y., Nickle,D., Brandsma,C.A.,
            Malarstig,A., Vangjeli,C., Jelinsky,S.A., John,S., Kilty,I.,
            McKeever,T., Shrine,N.R., Cook,J.P., Patel,S., Spector,T.D.,
            Hollox,E.J., Hall,I.P. and Tobin,M.D.
  TITLE     Whole exome re-sequencing implicates CCDC38 and cilia structure and
            function in resistance to smoking related airflow obstruction
  JOURNAL   PLoS Genet 10 (5), e1004314 (2014)
   PUBMED   24786987
  REMARK    GeneRIF: strongest signal of association with smoking resistance
            for a non-synonymous SNP in CCDC38, a gene which has previously
            been reported to show association with FEV1/FVC, and we demonstrate
            moderate expression of CCDC38 in bronchial epithelial cells
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1918)
  AUTHORS   Hancock,D.B., Soler Artigas,M., Gharib,S.A., Henry,A.,
            Manichaikul,A., Ramasamy,A., Loth,D.W., Imboden,M., Koch,B.,
            McArdle,W.L., Smith,A.V., Smolonska,J., Sood,A., Tang,W.,
            Wilk,J.B., Zhai,G., Zhao,J.H., Aschard,H., Burkart,K.M.,
            Curjuric,I., Eijgelsheim,M., Elliott,P., Gu,X., Harris,T.B.,
            Janson,C., Homuth,G., Hysi,P.G., Liu,J.Z., Loehr,L.R., Lohman,K.,
            Loos,R.J., Manning,A.K., Marciante,K.D., Obeidat,M., Postma,D.S.,
            Aldrich,M.C., Brusselle,G.G., Chen,T.H., Eiriksdottir,G.,
            Franceschini,N., Heinrich,J., Rotter,J.I., Wijmenga,C.,
            Williams,O.D., Bentley,A.R., Hofman,A., Laurie,C.C., Lumley,T.,
            Morrison,A.C., Joubert,B.R., Rivadeneira,F., Couper,D.J.,
            Kritchevsky,S.B., Liu,Y., Wjst,M., Wain,L.V., Vonk,J.M.,
            Uitterlinden,A.G., Rochat,T., Rich,S.S., Psaty,B.M., O'Connor,G.T.,
            North,K.E., Mirel,D.B., Meibohm,B., Launer,L.J., Khaw,K.T.,
            Hartikainen,A.L., Hammond,C.J., Glaser,S., Marchini,J., Kraft,P.,
            Wareham,N.J., Volzke,H., Stricker,B.H., Spector,T.D.,
            Probst-Hensch,N.M., Jarvis,D., Jarvelin,M.R., Heckbert,S.R.,
            Gudnason,V., Boezen,H.M., Barr,R.G., Cassano,P.A., Strachan,D.P.,
            Fornage,M., Hall,I.P., Dupuis,J., Tobin,M.D. and London,S.J.
  TITLE     Genome-wide joint meta-analysis of SNP and SNP-by-smoking
            interaction identifies novel loci for pulmonary function
  JOURNAL   PLoS Genet 8 (12), e1003098 (2012)
   PUBMED   23284291
REFERENCE   5  (bases 1 to 1918)
  AUTHORS   Soler Artigas,M., Loth,D.W., Wain,L.V., Gharib,S.A., Obeidat,M.,
            Tang,W., Zhai,G., Zhao,J.H., Smith,A.V., Huffman,J.E., Albrecht,E.,
            Jackson,C.M., Evans,D.M., Cadby,G., Fornage,M., Manichaikul,A.,
            Lopez,L.M., Johnson,T., Aldrich,M.C., Aspelund,T., Barroso,I.,
            Campbell,H., Cassano,P.A., Couper,D.J., Eiriksdottir,G.,
            Franceschini,N., Garcia,M., Gieger,C., Gislason,G.K., Grkovic,I.,
            Hammond,C.J., Hancock,D.B., Harris,T.B., Ramasamy,A.,
            Heckbert,S.R., Heliovaara,M., Homuth,G., Hysi,P.G., James,A.L.,
            Jankovic,S., Joubert,B.R., Karrasch,S., Klopp,N., Koch,B.,
            Kritchevsky,S.B., Launer,L.J., Liu,Y., Loehr,L.R., Lohman,K.,
            Loos,R.J., Lumley,T., Al Balushi,K.A., Ang,W.Q., Barr,R.G.,
            Beilby,J., Blakey,J.D., Boban,M., Boraska,V., Brisman,J.,
            Britton,J.R., Brusselle,G.G., Cooper,C., Curjuric,I., Dahgam,S.,
            Deary,I.J., Ebrahim,S., Eijgelsheim,M., Francks,C., Gaysina,D.,
            Granell,R., Gu,X., Hankinson,J.L., Hardy,R., Harris,S.E.,
            Henderson,J., Henry,A., Hingorani,A.D., Hofman,A., Holt,P.G.,
            Hui,J., Hunter,M.L., Imboden,M., Jameson,K.A., Kerr,S.M.,
            Kolcic,I., Kronenberg,F., Liu,J.Z., Marchini,J., McKeever,T.,
            Morris,A.D., Olin,A.C., Porteous,D.J., Postma,D.S., Rich,S.S.,
            Ring,S.M., Rivadeneira,F., Rochat,T., Sayer,A.A., Sayers,I.,
            Sly,P.D., Smith,G.D., Sood,A., Starr,J.M., Uitterlinden,A.G.,
            Vonk,J.M., Wannamethee,S.G., Whincup,P.H., Wijmenga,C.,
            Williams,O.D., Wong,A., Mangino,M., Marciante,K.D., McArdle,W.L.,
            Meibohm,B., Morrison,A.C., North,K.E., Omenaas,E., Palmer,L.J.,
            Pietilainen,K.H., Pin,I., Pola Sbreve Ek,O., Pouta,A., Psaty,B.M.,
            Hartikainen,A.L., Rantanen,T., Ripatti,S., Rotter,J.I., Rudan,I.,
            Rudnicka,A.R., Schulz,H., Shin,S.Y., Spector,T.D., Surakka,I.,
            Vitart,V., Volzke,H., Wareham,N.J., Warrington,N.M., Wichmann,H.E.,
            Wild,S.H., Wilk,J.B., Wjst,M., Wright,A.F., Zgaga,L., Zemunik,T.,
            Pennell,C.E., Nyberg,F., Kuh,D., Holloway,J.W., Boezen,H.M.,
            Lawlor,D.A., Morris,R.W., Probst-Hensch,N., Kaprio,J., Wilson,J.F.,
            Hayward,C., Kahonen,M., Heinrich,J., Musk,A.W., Jarvis,D.L.,
            Glaser,S., Jarvelin,M.R., Ch Stricker,B.H., Elliott,P.,
            O'Connor,G.T., Strachan,D.P., London,S.J., Hall,I.P., Gudnason,V.
            and Tobin,M.D.
  CONSRTM   International Lung Cancer Consortium; GIANT consortium
  TITLE     Genome-wide association and large-scale follow up identifies 16 new
            loci influencing lung function
  JOURNAL   Nat Genet 43 (11), 1082-1090 (2011)
   PUBMED   21946350
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK097408.1 and BC095479.1.
            
            On Nov 22, 2018 this sequence version replaced NM_182496.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC095479.1, AK097408.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161674 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344280.8/ ENSP00000345470.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1786              AK097408.1         37-1822
            1787-1796           BC095479.1         1771-1780
            1797-1917           AK097408.1         1833-1953
            1918-1918           BC095479.1         1902-1902
FEATURES             Location/Qualifiers
     source          1..1918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..1918
                     /gene="CCDC38"
                     /note="coiled-coil domain containing 38"
                     /db_xref="GeneID:120935"
                     /db_xref="HGNC:HGNC:26843"
     exon            1..184
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            185..235
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..1890
                     /gene="CCDC38"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 38"
                     /protein_id="NP_872302.2"
                     /db_xref="CCDS:CCDS9056.1"
                     /db_xref="GeneID:120935"
                     /db_xref="HGNC:HGNC:26843"
                     /translation="MSSNLLPTLNSGGKVKDGSTKEDRPYKIFFRDLFLVKENEMAAK
                     ETEKFMNRNMKVYQKTTFSSRMKSHSYLSQLAFYPKRSGRSFEKFGPGPAPIPRLIEG
                     SDTKRTVHEFINDQRDRFLLEYALSTKRNTIKKFEKDIAMRERQLKKAEKKLQDDALA
                     FEEFLRENDQRSVDALKMAAQETINKLQMTAELKKASMEVQAVKSEIAKTEFLLREYM
                     KYGFFLLQMSPKHWQIQQALKRAQASKSKANIILPKILAKLSLHSSNKEGILEESGRT
                     AVLSEDASQGRDSQGKPSRSLTRTPEKKKSNLAESFGSEDSLEFLLDDEMDVDLEPAL
                     YFKEPEELLQVLRELEEQNLTLFQYSQDVDENLEEVNKREKVIQDKTNSNIEFLLEQE
                     KMLKANCVREEEKAAELQLKSKLFSFGEFNSDAQEILIDSLSKKITQVYKVCIGDAED
                     DGLNPIQKLVKVESRLVELCDLIESIPKENVEAIERMKQKEWRQKFRDEKMKEKQRHQ
                     QERLKAALEKAVAQPKKKLGRRLVFHSKPPSGNKQQLPLVNETKTKSQEEEYFFT"
     exon            236..336
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            337..502
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            503..567
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            568..731
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            732..812
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            813..970
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1069
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1118
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1188
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1340
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            1341..1476
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            1477..1682
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1776
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     exon            1777..1918
                     /gene="CCDC38"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1890..1895
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC38"
                     /note="hexamer: AATAAA"
     polyA_site      1918
                     /gene="CCDC38"
                     /note="major polyA site"
ORIGIN      
        1 gcacttatcc gttggccagc tgcgttccgg gatcagctac cagacggtcc ctgagatgac
       61 cgggaaccgg gctgggggag gatagagccg agactggagg atcgattggc acctccgccc
      121 acttttccca caacgccttc ccgaacgata ggttggaaag gctcctggat ccaaactcgc
      181 tgagggccag gcaagaaaat gtcctcaaat ttattgccaa cactgaattc tggaggtaaa
      241 gtaaaagatg gctcaaccaa agaggacagg ccttataaga tctttttcag agatctcttt
      301 cttgtcaaag aaaatgaaat ggcagcaaag gaaacggaaa aatttatgaa ccgtaacatg
      361 aaagtctacc agaaaactac tttttcatcc agaatgaaga gtcattcata cctgagccaa
      421 ctagctttct accctaaaag gagtggtagg tcatttgaaa agtttgggcc aggtcctgct
      481 ccgattccta gattaataga aggttccgac acaaaaagga ctgtccatga atttattaat
      541 gaccagagag acaggtttct gctcgagtat gctttgtcaa ccaaaagaaa cacaatcaaa
      601 aagtttgaaa aagacatagc aatgagggaa cggcaactaa aaaaagcaga gaaaaagctc
      661 caagatgatg cactggcctt tgaagagttc cttcgagaaa atgaccagag atctgtagac
      721 gctctgaaaa tggcagcaca ggaaacaata aacaaactcc aaatgacagc agagctgaag
      781 aaagcaagca tggaggtaca agcagtgaaa agtgaaatag caaaaacaga attcctcctc
      841 agggagtata tgaaatatgg tttttttctg ctgcaaatgt ctccaaaaca ttggcaaatc
      901 cagcaagcac taaaaagagc acaggcatca aaaagtaaag caaatatcat ccttccaaaa
      961 atattagcaa aattatcatt acattcaagt aacaaggaag gcatccttga ggagtccggg
     1021 aggacagctg tcctttcaga agatgcttct cagggaagag acagccaagg aaagccaagc
     1081 agaagcctga ctcgcactcc agagaaaaag aaatcaaacc tggctgaaag tttcggttca
     1141 gaagacagtt tggaattcct tttagatgat gaaatggacg ttgatttgga gccagcactt
     1201 tatttcaagg aaccagagga gttacttcaa gtcctcagag agctggaaga gcagaatctt
     1261 actttgtttc aatattccca agatgtagat gaaaatcttg aagaggtaaa caaaagagaa
     1321 aaagttatac aggataaaac aaatagcaac atagagtttc ttttggagca agaaaaaatg
     1381 cttaaagcta actgtgtgag agaagaagag aaagcagcag aattgcaatt aaagtccaag
     1441 ctctttagct ttggagaatt taattcagat gctcaggaaa tactgataga ctcacttagt
     1501 aaaaagatta ctcaagtata caaagtctgc attggagatg ctgaggatga cggcctcaac
     1561 ccaattcaaa agctggtaaa agtagaatct cgcctggtag aactgtgtga cctcatcgaa
     1621 tccattccca aagaaaatgt ggaggcaatt gagaggatga aacagaaaga atggcggcaa
     1681 aagtttcgtg atgagaaaat gaaagaaaaa caaagacacc aacaggaaag gctaaaagct
     1741 gctctggaaa aagcagtagc acaaccaaag aaaaagttgg gaagacgact tgtctttcat
     1801 tcaaaacctc catctggtaa caaacagcag ctacctttag tcaatgaaac aaaaacaaaa
     1861 tcacaagagg aagaatattt ttttacttga ataaaagcag taagacattt tattacca
//
