LOCUS       NM_144974               2059 bp    mRNA    linear   PRI 09-FEB-2024
DEFINITION  Homo sapiens coiled-coil domain containing 122 (CCDC122),
            transcript variant 1, mRNA.
ACCESSION   NM_144974 XM_170735
VERSION     NM_144974.5
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 2059)
  AUTHORS   Xiong,J.H., Mao,C., Sha,X.W., Jin,Z., Wang,H., Liu,Y.Y. and Ning,Y.
  TITLE     Association between genetic variants in NOD2, C13orf31, and CCDC122
            genes and leprosy among the Chinese Yi population
  JOURNAL   Int J Dermatol 55 (1), 65-69 (2016)
   PUBMED   26235265
REFERENCE   2  (bases 1 to 2059)
  AUTHORS   Sales-Marques,C., Salomao,H., Fava,V.M., Alvarado-Arnez,L.E.,
            Amaral,E.P., Cardoso,C.C., Dias-Batista,I.M., da Silva,W.L.,
            Medeiros,P., da Cunha Lopes Virmond,M., Lana,F.C., Pacheco,A.G.,
            Moraes,M.O., Mira,M.T. and Pereira Latini,A.C.
  TITLE     NOD2 and CCDC122-LACC1 genes are associated with leprosy
            susceptibility in Brazilians
  JOURNAL   Hum Genet 133 (12), 1525-1532 (2014)
   PUBMED   25367361
  REMARK    GeneRIF: Association between leprosy and tag SNPs at NOD2
            (rs8057431) and CCDC122-LACC1 (rs4942254).
REFERENCE   3  (bases 1 to 2059)
  AUTHORS   Grant,A.V., Alter,A., Huong,N.T., Orlova,M., Van Thuc,N., Ba,N.N.,
            Thai,V.H., Abel,L., Schurr,E. and Alcais,A.
  TITLE     Crohn's disease susceptibility genes are associated with leprosy in
            the Vietnamese population
  JOURNAL   J Infect Dis 206 (11), 1763-1767 (2012)
   PUBMED   22984114
REFERENCE   4  (bases 1 to 2059)
  AUTHORS   Umm-e-Kalsoom, Basit,S., Kamran-ul-Hassan Naqvi,S., Ansar,M. and
            Ahmad,W.
  TITLE     Genetic mapping of an autosomal recessive postaxial polydactyly
            type A to chromosome 13q13.3-q21.2 and screening of the candidate
            genes
  JOURNAL   Hum Genet 131 (3), 415-422 (2012)
   PUBMED   21877132
REFERENCE   5  (bases 1 to 2059)
  AUTHORS   Chapman,S.J. and Hill,A.V.
  TITLE     Human genetic susceptibility to infectious disease
  JOURNAL   Nat Rev Genet 13 (3), 175-188 (2012)
   PUBMED   22310894
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2059)
  AUTHORS   Zhang,F.R., Huang,W., Chen,S.M., Sun,L.D., Liu,H., Li,Y., Cui,Y.,
            Yan,X.X., Yang,H.T., Yang,R.D., Chu,T.S., Zhang,C., Zhang,L.,
            Han,J.W., Yu,G.Q., Quan,C., Yu,Y.X., Zhang,Z., Shi,B.Q.,
            Zhang,L.H., Cheng,H., Wang,C.Y., Lin,Y., Zheng,H.F., Fu,X.A.,
            Zuo,X.B., Wang,Q., Long,H., Sun,Y.P., Cheng,Y.L., Tian,H.Q.,
            Zhou,F.S., Liu,H.X., Lu,W.S., He,S.M., Du,W.L., Shen,M., Jin,Q.Y.,
            Wang,Y., Low,H.Q., Erwin,T., Yang,N.H., Li,J.Y., Zhao,X.,
            Jiao,Y.L., Mao,L.G., Yin,G., Jiang,Z.X., Wang,X.D., Yu,J.P.,
            Hu,Z.H., Gong,C.H., Liu,Y.Q., Liu,R.Y., Wang,D.M., Wei,D.,
            Liu,J.X., Cao,W.K., Cao,H.Z., Li,Y.P., Yan,W.G., Wei,S.Y.,
            Wang,K.J., Hibberd,M.L., Yang,S., Zhang,X.J. and Liu,J.J.
  TITLE     Genomewide association study of leprosy
  JOURNAL   N Engl J Med 361 (27), 2609-2618 (2009)
   PUBMED   20018961
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL512506.8, DA739121.1,
            AW373287.1 and CA427248.1.
            
            On Nov 22, 2018 this sequence version replaced NM_144974.4.
            
            Summary: This gene encodes a protein that contains a coiled-coil
            domain. Naturally occurring mutations in this gene are associated
            with leprosy. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments and orthologous data.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR5189667.200228.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000444614.8/ ENSP00000407763.2
            RefSeq Select criteria    :: based on conservation, expression,
                                         longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                AL512506.8         60421-60470         c
            51-612              DA739121.1         2-563
            613-738             AW373287.1         430-555             c
            739-739             AL512506.8         40527-40527         c
            740-1136            AW373287.1         32-428              c
            1137-1707           AL512506.8         17434-18004         c
            1708-2059           CA427248.1         16-367              c
FEATURES             Location/Qualifiers
     source          1..2059
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..2059
                     /gene="CCDC122"
                     /note="coiled-coil domain containing 122"
                     /db_xref="GeneID:160857"
                     /db_xref="HGNC:HGNC:26478"
                     /db_xref="MIM:613408"
     exon            1..110
                     /gene="CCDC122"
                     /inference="alignment:Splign:2.1.0"
     exon            111..196
                     /gene="CCDC122"
                     /inference="alignment:Splign:2.1.0"
     exon            197..355
                     /gene="CCDC122"
                     /inference="alignment:Splign:2.1.0"
     CDS             310..1131
                     /gene="CCDC122"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 122"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 122
                     isoform 1"
                     /protein_id="NP_659411.2"
                     /db_xref="CCDS:CCDS9390.2"
                     /db_xref="GeneID:160857"
                     /db_xref="HGNC:HGNC:26478"
                     /db_xref="MIM:613408"
                     /translation="MSDNKERKSQGFPKEDNQDTSSLADAVEKVAKQQQSQASEIEKN
                     KKVLFNLKNELHELEKEIAAISAETKETERQIYQQDSAIENTKLHCDSLETQIKSLHS
                     ENVKLKFDIETAQEDFEEHMIKYNAYYAKIKAHKNSLGEVESKWSFMTELHEKRDFVK
                     KLKTMKEELMQDLQNPGGNRITQVQEDITNLKDKIITVKESIIEKTCFLEEEKKTHEK
                     LRKEIEVQHKRYDAILKRLHCQVNKLQSNRRQWQWNIQQLEKTAAELRKCIGMQE"
     exon            356..465
                     /gene="CCDC122"
                     /inference="alignment:Splign:2.1.0"
     exon            466..864
                     /gene="CCDC122"
                     /inference="alignment:Splign:2.1.0"
     exon            865..981
                     /gene="CCDC122"
                     /inference="alignment:Splign:2.1.0"
     exon            982..2059
                     /gene="CCDC122"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2031..2036
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC122"
                     /note="hexamer: AATAAA"
     polyA_site      2059
                     /gene="CCDC122"
                     /note="major polyA site"
ORIGIN      
        1 acctacctcg ccgcggccgc acagattccc cgcctgatac cgtcccagga tcccagggga
       61 aacctgacgg ccaggttccc tcgtgccagc tgccgggagg cgggagggag tgccctgaaa
      121 ctctaatctc attgcctggc cagaaaagga agtaatccct agtgtcagca gattcagcgg
      181 tactggtgta taataggatc accaatatac aacaggaaaa aacaaaagtg aaagattatc
      241 aatatagatt attgagtagg agtaaagaag gtaaatcaaa aaggggaaaa gagattacag
      301 acacagaaaa tgtcagacaa caaagaaagg aagagtcaag gatttcctaa agaagataac
      361 caagacacaa gttcattagc tgatgctgta gagaaagttg caaagcaaca acaatcacaa
      421 gcatcagaga tagaaaaaaa caaaaaggtt ctgttcaatt tgaagaatga acttcatgag
      481 cttgaaaaag aaatagcagc tatctctgca gaaactaaag aaacagaaag acaaatttat
      541 caacaagatt ctgccataga gaataccaaa cttcattgtg atagcctgga aactcaaatc
      601 aaatccttac attcagaaaa tgtaaagctt aaatttgaca tagaaacagc ccaagaagat
      661 tttgaggaac acatgataaa atataatgca tattatgcaa aaataaaagc acataaaaat
      721 agtttggggg aagtagagag caaatggtca tttatgactg aactccatga aaagcgagat
      781 tttgttaaaa aattaaagac aatgaaagaa gaacttatgc aagatcttca aaatccagga
      841 gggaaccgaa taacacaagt acaggaagac attacaaact taaaggataa aattataact
      901 gtaaaagaat ctatcattga aaaaacttgt tttcttgagg aagaaaaaaa gacacatgaa
      961 aaattaagaa aagaaataga ggtacaacat aagaggtatg atgcaattct taagcgtttg
     1021 cattgtcagg tgaacaagct tcagtcaaat agacgacagt ggcaatggaa cattcaacaa
     1081 ttggaaaaaa ctgcagccga attaagaaaa tgcattggaa tgcaagagta acattgccat
     1141 agggcaatgt ggaacacaga ccatgacaac aaaaattact ggacagaaca ttaagaaaat
     1201 cttttggatt cttaataaca agcatccact attagagacc tgtcttaatg acagatgtct
     1261 tcggttgttg ttttttttaa atcagtcatc gatttgttaa aatgccttct aaccctacac
     1321 ttgatagcag tagacagaca ataggaatgt ctacgggaaa ataatgcaag agtctctgtg
     1381 actatttgga gtgtgtaaaa tgtattatac tcatgaatac ctgtttatgt tgcattcact
     1441 accctatgaa gtaaaaattt agaagggaaa aaacactcga attttcactg atttaaattg
     1501 ttaagatttt taaaatgttt gtctgtttcg aacttttttt tttttttttt ttttgagacg
     1561 gagtctcgct ctgtcgccca ggccggactg cggactgcag tggcgcagtc tcggctcact
     1621 gcaagctccg cttcctgggt tcacgccatt ctcctgcctc agcctcccga gtagctggga
     1681 ccacaggcgc ccgccaccgc gcccggctaa ttttttgtat ttttagtaga gacggggttt
     1741 caccttgtta gccaggatgg tctcgatctc ctgacctcat gatccacccg cctcggcctc
     1801 ccaaagtgct gggattacag gcgtgagcca ccgcgcccgg cctgtttcga actttttatt
     1861 ggaacttgtt tttttacagc tgccttcaca gtagcccata aatattgata tttataataa
     1921 tgtttttgta tgttcaatgc ttcaaatatt ttactccatt ttctctttta tccagaaggt
     1981 aacaatcatt tttctttgtt ataaaataac atattttgag tgatacgatg aataaaatat
     2041 tttgttcact ttctataaa
//
