LOCUS       NM_001243540            2091 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens CEP295 N-terminal like (CEP295NL), transcript variant
            2, mRNA.
ACCESSION   NM_001243540
VERSION     NM_001243540.2
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 2091)
  AUTHORS   Kottyan,L.C., Davis,B.P., Sherrill,J.D., Liu,K., Rochman,M.,
            Kaufman,K., Weirauch,M.T., Vaughn,S., Lazaro,S., Rupert,A.M.,
            Kohram,M., Stucke,E.M., Kemme,K.A., Magnusen,A., He,H.,
            Dexheimer,P., Chehade,M., Wood,R.A., Pesek,R.D., Vickery,B.P.,
            Fleischer,D.M., Lindbad,R., Sampson,H.A., Mukkada,V.A.,
            Putnam,P.E., Abonia,J.P., Martin,L.J., Harley,J.B. and
            Rothenberg,M.E.
  TITLE     Genome-wide association analysis of eosinophilic esophagitis
            provides insight into the tissue specificity of this allergic
            disease
  JOURNAL   Nat Genet 46 (8), 895-900 (2014)
   PUBMED   25017104
REFERENCE   2  (bases 1 to 2091)
  AUTHORS   Jaworski,D.M., Beem-Miller,M., Lluri,G. and Barrantes-Reynolds,R.
  TITLE     Potential regulatory relationship between the nested gene DDC8 and
            its host gene tissue inhibitor of metalloproteinase-2
  JOURNAL   Physiol Genomics 28 (2), 168-178 (2007)
   PUBMED   16985004
REFERENCE   3  (bases 1 to 2091)
  AUTHORS   Zody,M.C., Garber,M., Adams,D.J., Sharpe,T., Harrow,J.,
            Lupski,J.R., Nicholson,C., Searle,S.M., Wilming,L., Young,S.K.,
            Abouelleil,A., Allen,N.R., Bi,W., Bloom,T., Borowsky,M.L.,
            Bugalter,B.E., Butler,J., Chang,J.L., Chen,C.K., Cook,A., Corum,B.,
            Cuomo,C.A., de Jong,P.J., DeCaprio,D., Dewar,K., FitzGerald,M.,
            Gilbert,J., Gibson,R., Gnerre,S., Goldstein,S., Grafham,D.V.,
            Grocock,R., Hafez,N., Hagopian,D.S., Hart,E., Norman,C.H.,
            Humphray,S., Jaffe,D.B., Jones,M., Kamal,M., Khodiyar,V.K.,
            LaButti,K., Laird,G., Lehoczky,J., Liu,X., Lokyitsang,T.,
            Loveland,J., Lui,A., Macdonald,P., Major,J.E., Matthews,L.,
            Mauceli,E., McCarroll,S.A., Mihalev,A.H., Mudge,J., Nguyen,C.,
            Nicol,R., O'Leary,S.B., Osoegawa,K., Schwartz,D.C., Shaw-Smith,C.,
            Stankiewicz,P., Steward,C., Swarbreck,D., Venkataraman,V.,
            Whittaker,C.A., Yang,X., Zimmer,A.R., Bradley,A., Hubbard,T.,
            Birren,B.W., Rogers,J., Lander,E.S. and Nusbaum,C.
  TITLE     DNA sequence of human chromosome 17 and analysis of rearrangement
            in the human lineage
  JOURNAL   Nature 440 (7087), 1045-1049 (2006)
   PUBMED   16625196
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK057217.1 and AC100788.8.
            
            On May 17, 2019 this sequence version replaced NM_001243540.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            and initiates translation at an alternate start codon, compared to
            variant 1. The encoded isoform (2) has a longer N-terminus than
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK057217.1, SRR5189667.225738.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322630.3/ ENSP00000312767.2
            RefSeq Select criteria :: based on longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-102               AK057217.1         1-102
            103-103             AC100788.8         26298-26298         c
            104-2090            AK057217.1         104-2090
            2091-2091           AC100788.8         14985-14985         c
FEATURES             Location/Qualifiers
     source          1..2091
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..2091
                     /gene="CEP295NL"
                     /gene_synonym="DDC8; KIAA1731NL"
                     /note="CEP295 N-terminal like"
                     /db_xref="GeneID:100653515"
                     /db_xref="HGNC:HGNC:44659"
     exon            1..68
                     /gene="CEP295NL"
                     /gene_synonym="DDC8; KIAA1731NL"
                     /inference="alignment:Splign:2.1.0"
     exon            69..210
                     /gene="CEP295NL"
                     /gene_synonym="DDC8; KIAA1731NL"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..2032
                     /gene="CEP295NL"
                     /gene_synonym="DDC8; KIAA1731NL"
                     /note="isoform 2 is encoded by transcript variant 2;
                     differential display clone 8; protein DDC8 homolog;
                     KIAA1731 N-terminal like protein"
                     /codon_start=1
                     /product="protein DDC8 homolog isoform 2"
                     /protein_id="NP_001230469.1"
                     /db_xref="CCDS:CCDS58603.1"
                     /db_xref="GeneID:100653515"
                     /db_xref="HGNC:HGNC:44659"
                     /translation="MCSGWSSSVIWRHTQFAVERCGFCGSSGPGAPLEPSTLGSKHLP
                     WEAVSAGFADRNRNMDGAMWLSLCPDNEDLLWRKKHKLLQARGKGDLALQRRADAKLW
                     KNYQLQRLAEELRRGYQEAQHLHVGGLDRLQSARLLGWGGGRARENEPDSQGPIQRRS
                     ARPPRAKEKHRAALSEERSCREELGQQHPRHSRPRKTAASPEKPQTTKATGRMNSHLA
                     PPEKRKGRPEPSTKSGGGRCAIHPRRSKGADLERSNPLVAAVGEIGLVEEKEKGTARA
                     GRRQLGKGAVCFVPALTSRSQGQSLEGKLRDLGQLWPADSSCRREAVSPASQCTLREK
                     NKWQKELELAFEELFNINRKLKKHLCLYLALKPRMDQRPGEGHAFSEMQECGAGTPRG
                     KKMADPEMLPAGEPRSPAEEEAQQAASKTDLKTFMGKAQNQKYQGTVKPTFRNGSQTL
                     SPEAGIFINKEDSLLYSTESGQETPKLGTLAEGSLQLHLQDQADRVGSTASRQRQKAE
                     MEQRRQKQLESLEQMEHPDMSLEIHYKAELEKERREQRRARLAHLKSSSTRAQERERG
                     SELSTTSPSGTSLADDDRHSQMIRDQQQQILQQNRLHKQFLEEARKCLREFQNIC"
     exon            211..2091
                     /gene="CEP295NL"
                     /gene_synonym="DDC8; KIAA1731NL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2056..2061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP295NL"
                     /gene_synonym="DDC8; KIAA1731NL"
                     /note="hexamer: AATACA"
     polyA_site      2091
                     /gene="CEP295NL"
                     /gene_synonym="DDC8; KIAA1731NL"
                     /note="major polyA site"
ORIGIN      
        1 atgagtagcc agccagggca gaggccgggc tgcaggtgga ggcggggaag cgattccggc
       61 cacctttgtg atgggcgtct cactacctac aaagtcagcc cagtgatttc aagacagccc
      121 tggagacagt gcttcctgcc ctcctgtcag cttctgcctc cctgtaatgt gttctgggtg
      181 gtctagctca gtcatctgga gacacacaca gtttgctgtg gaacgttgtg gcttctgtgg
      241 ctcctcaggc ccgggggcgc cccttgaacc ctccactctt ggctccaagc accttccctg
      301 ggaagctgta tctgctgggt tcgcagacag gaacagaaac atggatggag ccatgtggct
      361 gagcctctgt cctgataacg aagacctgct ttggaggaaa aagcacaaat tgctacaagc
      421 ccggggcaaa ggcgatctcg ctctgcagag aagagcggat gccaagctgt ggaaaaacta
      481 ccagctccag cgcttggctg aggagttgag gagagggtat caggaggcac agcacctgca
      541 cgtcggtggc ctggacaggc tgcagtcagc acgtctgttg ggctggggag gaggacgggc
      601 cagggaaaat gagcctgact cgcaggggcc catccagcga agatcagcca ggcccccgag
      661 ggccaaggag aagcatagag cagcccttag tgaagagagg agttgcaggg aagagttggg
      721 ccagcaacac cccaggcact ccaggccccg gaagacagca gcgagtccag agaaaccaca
      781 gactacaaaa gccacgggtc ggatgaattc tcacctggcc ccgcctgaga agagaaaggg
      841 aaggccagaa ccttcgacca agtctggggg tggccgctgt gccatccatc ctcggaggag
      901 caaaggggcg gacctagaaa ggtcaaaccc actcgtggct gctgtgggag aaatcgggct
      961 tgtggaggaa aaagagaaag gaacagctcg ggcggggagg aggcaactgg gaaagggggc
     1021 agtttgcttt gttccagccc tgaccagtcg ctctcaggga cagagtctgg aggggaagct
     1081 gagagacctc gggcagctgt ggccagctga ttccagctgc agaagggaag ccgtgtcccc
     1141 agcatctcag tgcacgctcc gggagaagaa caagtggcag aaagagctgg agttggcctt
     1201 tgaagagttg tttaatataa acagaaagct gaaaaaacac ctgtgcttgt acctggcact
     1261 gaagcccagg atggaccaga gacctgggga agggcatgcc ttctcagaga tgcaagagtg
     1321 tggcgctggg accccaagag ggaagaaaat ggcagaccca gagatgctgc ctgccgggga
     1381 acccaggagc ccagcagagg aggaggcgca gcaggcagcg tccaagaccg acttgaaaac
     1441 gttcatgggc aaggcccaga accaaaaata tcagggcacg gtcaagccca cgtttagaaa
     1501 tggaagtcaa acattgtctc ccgaggcagg tatatttatc aacaaagagg actcattatt
     1561 gtatagcact gaatctggac aagagacccc caaactgggc acgctggcag agggctccct
     1621 tcagctccac cttcaagacc aggcagacag agtgggctcg acggcatcca ggcaaaggca
     1681 gaaagcagag atggagcaga gaagacaaaa acaactggaa tcgcttgaac aaatggaaca
     1741 cccagatatg agcttggaaa tccactacaa agctgagcta gaaaaagaga ggagggagca
     1801 aagaagagct cgactggccc atctgaagtc ctcctccacg agagcccagg aaagggagag
     1861 aggatctgag ctcagcacca cttccccatc gggcaccagc ctcgccgacg acgaccggca
     1921 cagtcagatg atccgagacc agcagcagca gatcttacag caaaacaggt tgcacaagca
     1981 gtttcttgaa gaagcccgga aatgcttgcg ggagtttcag aacatatgct aaatgcgaga
     2041 ggcccacccg gggtaaatac atcactgata atggtgctgc cagcactggt a
//
