LOCUS       NM_017612               4113 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens zinc finger CCHC-type containing 8 (ZCCHC8),
            transcript variant 1, mRNA.
ACCESSION   NM_017612 XR_111357
VERSION     NM_017612.5
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 4113)
  AUTHORS   Nitschke,N.J., Jelsig,A.M., Lautrup,C., Lundsgaard,M.,
            Severinsen,M.T., Cowland,J.B., Maroun,L.L., Andersen,M.K. and
            Gronbaek,K.
  TITLE     Expanding the understanding of telomere biology disorder with
            reports from two families harboring variants in ZCCHC8 and TERC
  JOURNAL   Clin Genet 106 (2), 187-192 (2024)
   PUBMED   38606545
  REMARK    GeneRIF: Expanding the understanding of telomere biology disorder
            with reports from two families harboring variants in ZCCHC8 and
            TERC.
REFERENCE   2  (bases 1 to 4113)
  AUTHORS   Viard,J., Loe-Mie,Y., Daudin,R., Khelfaoui,M., Plancon,C.,
            Boland,A., Tejedor,F., Huganir,R.L., Kim,E., Kinoshita,M., Liu,G.,
            Haucke,V., Moncion,T., Yu,E., Hindie,V., Blehaut,H., Mircher,C.,
            Herault,Y., Deleuze,J.F., Rain,J.C., Simonneau,M. and
            Lepagnol-Bestel,A.M.
  TITLE     Chr21 protein-protein interactions: enrichment in proteins involved
            in intellectual disability, autism, and late-onset Alzheimer's
            disease
  JOURNAL   Life Sci Alliance 5 (12), e202101205 (2022)
   PUBMED   35914814
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4113)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 4113)
  AUTHORS   Kilchert,C., Wittmann,S. and Vasiljeva,L.
  TITLE     The regulation and functions of the nuclear RNA exosome complex
  JOURNAL   Nat Rev Mol Cell Biol 17 (4), 227-239 (2016)
   PUBMED   26726035
  REMARK    Review article
REFERENCE   5  (bases 1 to 4113)
  AUTHORS   Tiedje,C., Lubas,M., Tehrani,M., Menon,M.B., Ronkina,N.,
            Rousseau,S., Cohen,P., Kotlyarov,A. and Gaestel,M.
  TITLE     p38MAPK/MK2-mediated phosphorylation of RBM7 regulates the human
            nuclear exosome targeting complex
  JOURNAL   RNA 21 (2), 262-278 (2015)
   PUBMED   25525152
REFERENCE   6  (bases 1 to 4113)
  AUTHORS   Lubas,M., Andersen,P.R., Schein,A., Dziembowski,A., Kudla,G. and
            Jensen,T.H.
  TITLE     The human nuclear exosome targeting complex is loaded onto newly
            synthesized RNA to direct early ribonucleolysis
  JOURNAL   Cell Rep 10 (2), 178-192 (2015)
   PUBMED   25578728
REFERENCE   7  (bases 1 to 4113)
  AUTHORS   Lubas,M., Christensen,M.S., Kristiansen,M.S., Domanski,M.,
            Falkenby,L.G., Lykke-Andersen,S., Andersen,J.S., Dziembowski,A. and
            Jensen,T.H.
  TITLE     Interaction profiling identifies the human nuclear exosome
            targeting complex
  JOURNAL   Mol Cell 43 (4), 624-637 (2011)
   PUBMED   21855801
REFERENCE   8  (bases 1 to 4113)
  AUTHORS   Gustafson,M.P., Welcker,M., Hwang,H.C. and Clurman,B.E.
  TITLE     Zcchc8 is a glycogen synthase kinase-3 substrate that interacts
            with RNA-binding proteins
  JOURNAL   Biochem Biophys Res Commun 338 (3), 1359-1367 (2005)
   PUBMED   16263084
  REMARK    GeneRIF: Zcchc8 is a glycogen synthase kinase-3 substrate with a
            role in RNA metabolism
REFERENCE   9  (bases 1 to 4113)
  AUTHORS   Savage,S.A. and Niewisch,M.R.
  TITLE     Dyskeratosis Congenita and Related Telomere Biology Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301779
REFERENCE   10 (bases 1 to 4113)
  AUTHORS   Garcia,C.K. and Talbert,J.L.
  TITLE     Pulmonary Fibrosis Predisposition Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301408
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK074638.1, AC127002.3 and
            BE048845.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_017612.4.
            
            Summary: This gene encodes a scaffold protein which serves as an
            assessory factor to the nuclear RNA exosome complex. The encoded
            protein forms a trimeric human nuclear exosome targeting (NEXT)
            complex, together with hMTR4 and the RNA-binding factor RBM7 which
            promotes the exosomal degradation of non-coding promoter-upstream
            transcripts, enhancer RNAs and 3'-extended products of histone- and
            small nuclear RNA transcription. This complex is also thought to
            recruit the exosome to degrade intronic RNAs via its interaction
            with both the exosome and the spliceosome. It contains both an
            N-terminal zinc-knuckle domain and a C-terminal proline-rich
            domain. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074638.1, BC065918.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000633063.3/ ENSP00000488055.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1836              AK074638.1         40-1875
            1837-3635           AC127002.3         52923-54721         c
            3636-4113           BE048845.1         7-484               c
FEATURES             Location/Qualifiers
     source          1..4113
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..4113
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /note="zinc finger CCHC-type containing 8"
                     /db_xref="GeneID:55596"
                     /db_xref="HGNC:HGNC:25265"
                     /db_xref="MIM:616381"
     exon            1..291
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..2216
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     TRAMP-like complex RNA-binding factor ZCCHC8; zinc finger,
                     CCHC domain containing 8"
                     /codon_start=1
                     /product="zinc finger CCHC domain-containing protein 8
                     isoform 1"
                     /protein_id="NP_060082.2"
                     /db_xref="CCDS:CCDS91763.1"
                     /db_xref="GeneID:55596"
                     /db_xref="HGNC:HGNC:25265"
                     /db_xref="MIM:616381"
                     /translation="MAAEVYFGDLELFEPFDHPEESIPKPVHTRFKDDDGDEEDENGV
                     GDAELRERLRQCEETIEQLRAENQELKRKLNILTRPSGILVNDTKLDGPILQILFMNN
                     AISKQYHQEIEEFVSNLVKRFEEQQKNDVEKTSFNLLPQPSSIVLEEDHKVEESCAIK
                     NNKEAFSVVGSVLYFTNFCLDKLGQPLLNENPQLSEGWEIPKYHQVFSHIVSLEGQEI
                     QVKAKRPKPHCFNCGSEEHQMKDCPMPRNAARISEKRKEYMDACGEANNQNFQQRYHA
                     EEVEERFGRFKPGVISEELQDALGVTDKSLPPFIYRMRQLGYPPGWLKEAELENSGLA
                     LYDGKDGTDGETEVGEIQQNKSVTYDLSKLVNYPGFNISTPRGIPDEWRIFGSIPMQA
                     CQQKDVFANYLTSNFQAPGVKSGNKRSSSHSSPGSPKKQKNESNSAGSPADMELDSDM
                     EVPHGSQSSESFQFQPPLPPDTPPLPRGTPPPVFTPPLPKGTPPLTPSDSPQTRTASG
                     AVDEDALTLEELEEQQRRIWAALEQAESVNSDSDVPVDTPLTGNSVASSPCPNELDLP
                     VPEGKTSEKQTLDEPEVPEIFTKKSEAGHASSPDSEVTSLCQKEKAELAPVNTEGALL
                     DNGSVVPNCDISNGGSQKLFPADTSPSTATKIHSPIPDMSKFATGITPFEFENMAEST
                     GMYLRIRSLLKNSPRNQQKNKKASE"
     exon            292..334
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            335..409
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            410..515
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            516..593
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            594..697
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            698..763
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            764..824
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            825..967
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1110
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1232
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1319
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1437
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..4113
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2574..2579
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /note="hexamer: AATATA"
     polyA_site      2599
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
     regulatory      2796..2801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /note="hexamer: AATAAA"
     polyA_site      2820
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /note="major polyA site"
     regulatory      3828..3833
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /note="hexamer: AATAAA"
     polyA_site      3851
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
     regulatory      4091..4096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
                     /note="hexamer: AATAAA"
     polyA_site      4113
                     /gene="ZCCHC8"
                     /gene_synonym="PFBMFT5"
ORIGIN      
        1 agagctctag agagtggtgc cgccttccaa ccttcttccc caagccctgg tggccggctc
       61 cgcctcttct cgaatctttt ccacagccca aaatggccgc agaggtgtat tttggcgatc
      121 tagagctctt cgagccgttc gaccacccag aggagtcgat tccgaagccc gttcacactc
      181 gcttcaagga cgacgacggc gacgaggagg acgaaaatgg ggtcggcgac gcggagctac
      241 gggagcggct tcggcagtgc gaggagacca tcgagcagct ccgcgccgag aatcaagaac
      301 ttaaacgaaa attgaacatt ctgactcgac cgagtggaat attggtgaac gatactaagt
      361 tagatggacc tatattacag attctattca tgaacaatgc tatttcaaag caatatcatc
      421 aagaaataga ggaatttgta tcaaatttag taaaaagatt tgaggaacag cagaaaaatg
      481 atgtggaaaa gacttccttt aatcttttgc cccagccatc cagtattgtg ctagaggagg
      541 accacaaagt ggaagagtcc tgtgccatta aaaacaacaa ggaagctttc agtgttgtag
      601 gaagtgtcct gtattttact aatttttgcc ttgataaatt ggggcaaccg cttctaaatg
      661 aaaaccctca gctttccgaa ggatgggaaa tacccaagta ccatcaagtc ttcagccaca
      721 ttgtttctct agaagggcaa gaaatacaag taaaggcaaa aaggccaaag cctcactgtt
      781 tcaattgtgg ttctgaagaa caccaaatga aagattgccc aatgcctcgg aatgctgctc
      841 gaataagtga aaagagaaaa gagtatatgg atgcctgtgg agaagcaaac aatcagaatt
      901 tccagcagcg ataccacgca gaagaagtag aagaaagatt tggaagattc aagccaggag
      961 ttattagtga ggaacttcaa gatgcactag gtgtgacaga caagagtctt ccacctttta
     1021 tctatcggat gcgccagcta gggtacccac cagggtggct caaagaggct gaattggaga
     1081 attcggggct tgcactctat gatggaaaag atggcactga tggggaaaca gaagttggag
     1141 aaatacaaca gaataaaagt gtcacttacg atctctcaaa attggtcaac tatcctggtt
     1201 ttaatatatc tactcccaga ggaattccag acgaatggag gatctttggt tccataccaa
     1261 tgcaggcatg tcagcagaag gatgtgtttg ccaattacct tacttctaac ttccaagcgc
     1321 caggtgtgaa gtctggcaac aagaggtctt catctcactc tagcccaggt agtccaaaga
     1381 agcagaagaa tgaaagcaac tcagcgggat ctcccgccga catggagctc gattcagata
     1441 tggaggtacc acatggttct cagagcagcg aaagttttca gtttcaacca ccattacctc
     1501 ctgacactcc tccactcccc cggggaactc ctccacccgt cttcacccct ccactcccaa
     1561 agggcacccc gccgctgact cccagtgact caccccagac cagaacagca tctggagctg
     1621 tggatgagga cgcactgact ctagaagaac ttgaagaaca gcagaggcgg atctgggcag
     1681 ctcttgagca ggccgagagc gtaaacagcg actccgacgt tcctgtggac acacctttaa
     1741 ctggcaattc cgttgcctca tcaccttgtc caaatgagct agacctccct gtcccggagg
     1801 gaaaaacatc tgaaaagcag acgctggatg agcctgaggt accagagatt tttacaaaga
     1861 aatcagaagc tggacatgcc tccagtccag actctgaggt gacatcactt tgtcagaagg
     1921 aaaaagcaga gttggctccg gtaaacactg aaggtgccct tcttgataat ggcagtgtcg
     1981 taccaaactg tgacatcagc aatgggggca gccagaagct ctttcctgca gacaccagtc
     2041 cttcaacggc cactaaaatt catagcccta tacctgacat gagcaaattt gcaactggaa
     2101 tcacgccatt tgaatttgag aatatggcag aatctactgg aatgtacctc aggataagaa
     2161 gcttgttaaa gaactcaccc cgaaaccagc agaaaaacaa aaaggcctct gaataatggc
     2221 ttgacttagc actgagagct atttaataac tttgttccgt taattagtac taattaagtg
     2281 gatagataga atggttttcc tgtttgtccc tcccatgttt aaaaatctat ccaaggttca
     2341 tgttccaaag tcaagcctat tttaaagaaa gactgagctc actagttcag tatattttat
     2401 tctcactgac aaaacttggg gggagatgtg aatatgacct ggtttagaga gggtttgtta
     2461 aggtttatac tatttttgga ttgtgactat ccgtcgagag tgatggtttt tatctgtctt
     2521 ttgtacattg ttttcccttt ctacattttg ctaattatcc tgtatataag tttaatatat
     2581 cactttttaa aagaaaaaat tctaccattt taaattcatg tttcaactcc tacaaccaaa
     2641 tgagaaaaat cagggatgag cagctttatc ccatttgggg tatttttgta agtgatttac
     2701 atgtgtcaat tttagtaata cttttacttt tttgtaactt catccttcat atatgcttgc
     2761 tatacaggta tgttcatctt tgtgtacaga ggtttaataa attagttttc atatacataa
     2821 tctaagactt tgaatacaaa aaagtgattc acaggtaaaa tcagtgtata taaccttttt
     2881 tttttttgag acaagggttt cactcttgtt gcccaggctg gagtgcaatg gcacaatctc
     2941 ggctcaccgc aacctccgcc tcccgagttt aagcgattct cctgcctcag cctccggagt
     3001 agctgggatt acaggcatgt gccaccacgc ccagctaact tcgtattttt agtagagatg
     3061 gggtttctcc acgtcgggtc aggctggtct tgacctcctg acttcaggtg atctgcccgc
     3121 ccagcctccc aaagtgctgg gattacaggc gtaagccacc tcacctggcc ggtgcatata
     3181 acttttaagt ttaaaagtaa attgttggcc aggcgtggtg gctcatgctt ataatcctag
     3241 cactttggga ggccaaggag gaaggatcac ctgaggtcag gagttcgaga ccagcctggc
     3301 caacatggca aaaccccatc tctacataaa tacaaaaatt agccaggtgt ggtggtacat
     3361 gcctgtaatc ccagctactc gggaggctga ggcaggagaa tcacttgaac ctgggagtgg
     3421 gaggttgcag tgagccgagg tcgcgccatt gcactccagc ctgggcaaca agagcaaaac
     3481 tccatctcaa aaaaaaaaaa aaaaaaaggt aaattgtaaa aatcagtggt agcaaaacaa
     3541 aaataatgat aggaattgca agtttgggtg ttttcagtgg atttcagcct taaatataga
     3601 aacagcagaa tttttgaaaa gtaattattt tgaaaaatga atggcatgca gctagccttt
     3661 gtataaaaat aattttctag atttgaaccc taatagttaa aaattaaaaa ttaaacataa
     3721 acatactgct tttaattgtc aggtatatat ataagataga gctgaaactg tggtttaggt
     3781 ctttctgtgg aatgccatta catctttata ttagtcaagt ccatgaaaat aaatgtttag
     3841 atcgtcttga attgttagtc tcaggcagtg ttatcctgct ctcaggccaa cagggggagc
     3901 aaaatagaaa cattccagat atagctttca tttttgagaa cttgagtaat cagaatttac
     3961 tgttctgtaa agaataaagg aaaggaaaat tataaagaga gaaatttctt tttaaagccc
     4021 tcacagaatg tgctagaaat agaataaaat ttaaaatact tttggcttct tttcctcagc
     4081 ttaagttcaa aataaaagca atcctttaca gtt
//
