LOCUS       NM_001363               2469 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens dyskerin pseudouridine synthase 1 (DKC1), transcript
            variant 1, mRNA.
ACCESSION   NM_001363
VERSION     NM_001363.5
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 2469)
  AUTHORS   Zhang,D., Zhu,Q., Huang,X., Zhang,B., Zhang,J. and Qin,Y.
  TITLE     Identifying and validating the roles of the cuproptosis-related
            gene DKC1 in cancer with a focus on esophageal carcinoma
  JOURNAL   J Cancer Res Clin Oncol 150 (8), 382 (2024)
   PUBMED   39103487
  REMARK    GeneRIF: Identifying and validating the roles of the
            cuproptosis-related gene DKC1 in cancer with a focus on esophageal
            carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2469)
  AUTHORS   Chen,H., Wu,Y., Jiang,Y., Chen,Z. and Zheng,T.
  TITLE     DKC1 aggravates gastric cancer cell migration and invasion through
            up-regulating the expression of TNFAIP6
  JOURNAL   Funct Integr Genomics 24 (2), 38 (2024)
   PUBMED   38376551
  REMARK    GeneRIF: DKC1 aggravates gastric cancer cell migration and invasion
            through up-regulating the expression of TNFAIP6.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2469)
  AUTHORS   Liu,X.Y., Tan,Q. and Li,L.X.
  TITLE     A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a
            prognostic biomarker
  JOURNAL   Hereditas 160 (1), 38 (2023)
   PUBMED   38082360
  REMARK    GeneRIF: A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1)
            as a prognostic biomarker.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2469)
  AUTHORS   Turano,M., Angrisani,A., Di Maio,N. and Furia,M.
  TITLE     Intron retention: a human DKC1 gene common splicing event
  JOURNAL   Biochem Cell Biol 91 (6), 506-512 (2013)
   PUBMED   24219293
  REMARK    GeneRIF: 3 novel alternative splice isoforms of DKC1 derived from
            human X-linked dyskeratosis congenita 1 have been identified.
REFERENCE   5  (bases 1 to 2469)
  AUTHORS   Angrisani,A., Turano,M., Paparo,L., Di Mauro,C. and Furia,M.
  TITLE     A new human dyskerin isoform with cytoplasmic localization
  JOURNAL   Biochim Biophys Acta 1810 (12), 1361-1368 (2011)
   PUBMED   21820037
  REMARK    GeneRIF: suggests that DKC1 nucleolar and cytoplasmic functions
            might cumulatively account for the plethora of manifestations
            displayed by this syndrome
REFERENCE   6  (bases 1 to 2469)
  AUTHORS   Heiss,N.S., Knight,S.W., Vulliamy,T.J., Klauck,S.M., Wiemann,S.,
            Mason,P.J., Poustka,A. and Dokal,I.
  TITLE     X-linked dyskeratosis congenita is caused by mutations in a highly
            conserved gene with putative nucleolar functions
  JOURNAL   Nat Genet 19 (1), 32-38 (1998)
   PUBMED   9590285
REFERENCE   7  (bases 1 to 2469)
  AUTHORS   Devriendt,K., Matthijs,G., Legius,E., Schollen,E., Blockmans,D.,
            van Geet,C., Degreef,H., Cassiman,J.J. and Fryns,J.P.
  TITLE     Skewed X-chromosome inactivation in female carriers of dyskeratosis
            congenita
  JOURNAL   Am J Hum Genet 60 (3), 581-587 (1997)
   PUBMED   9042917
REFERENCE   8  (bases 1 to 2469)
  AUTHORS   Aalfs,C.M., van den Berg,H., Barth,P.G. and Hennekam,R.C.
  TITLE     The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate
            entity with prenatal growth retardation, progressive pancytopenia
            and cerebellar hypoplasia
  JOURNAL   Eur J Pediatr 154 (4), 304-308 (1995)
   PUBMED   7607282
REFERENCE   9  (bases 1 to 2469)
  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 2469)
  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 AC109993.4.
            
            On Nov 23, 2018 this sequence version replaced NM_001363.4.
            
            Summary: This gene functions in two distinct complexes. It plays an
            active role in telomerase stabilization and maintenance, as well as
            recognition of snoRNAs containing H/ACA sequences which provides
            stability during biogenesis and assembly into H/ACA small nucleolar
            RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and
            widely expressed, and may play additional roles in
            nucleo-cytoplasmic shuttling, DNA damage response, and cell
            adhesion. Mutations have been associated with X-linked dyskeratosis
            congenita. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR1660809.57806.1, BC009928.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369550.10/ ENSP00000358563.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-118               AC109993.4         76847-76964
            119-186             AC109993.4         78882-78949
            187-273             AC109993.4         79427-79513
            274-365             AC109993.4         79890-79981
            366-550             AC109993.4         80199-80383
            551-615             AC109993.4         80980-81044
            616-742             AC109993.4         81239-81365
            743-873             AC109993.4         82285-82415
            874-1017            AC109993.4         83150-83293
            1018-1138           AC109993.4         84742-84862
            1139-1257           AC109993.4         87114-87232
            1258-1361           AC109993.4         88585-88688
            1362-1440           AC109993.4         89178-89256
            1441-1578           AC109993.4         90170-90307
            1579-2469           AC109993.4         90782-91672
FEATURES             Location/Qualifiers
     source          1..2469
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2469
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /note="dyskerin pseudouridine synthase 1"
                     /db_xref="GeneID:1736"
                     /db_xref="HGNC:HGNC:2890"
                     /db_xref="MIM:300126"
     exon            1..118
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..1647
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /note="isoform 1 is encoded by transcript variant 1; H/ACA
                     ribonucleoprotein complex subunit 4; nucleolar protein
                     family A member 4; snoRNP protein DKC1; nopp140-associated
                     protein of 57 kDa; CBF5 homolog; dyskeratosis congenita 1,
                     dyskerin; nucleolar protein NAP57; H/ACA ribonucleoprotein
                     complex subunit DKC1"
                     /codon_start=1
                     /product="H/ACA ribonucleoprotein complex subunit DKC1
                     isoform 1"
                     /protein_id="NP_001354.1"
                     /db_xref="CCDS:CCDS14761.1"
                     /db_xref="GeneID:1736"
                     /db_xref="HGNC:HGNC:2890"
                     /db_xref="MIM:300126"
                     /translation="MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKV
                     AKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSS
                     HEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
                     NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWV
                     SCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNH
                     KDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIV
                     VITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLM
                     IKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRE
                     SESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKE
                     VELVSE"
     exon            119..186
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            187..273
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            274..365
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            366..550
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            551..615
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            616..742
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            743..873
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            874..1017
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1138
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1257
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1361
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1440
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..1578
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..2469
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2338..2343
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /note="hexamer: ATTAAA"
     polyA_site      2368
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /note="major polyA site"
     regulatory      2429..2434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /note="hexamer: ATTAAA"
     polyA_site      2469
                     /gene="DKC1"
                     /gene_synonym="CBF5; CHINE1; DKC; DKCX; NAP57; NOLA4;
                     XAP101"
                     /note="major polyA site"
ORIGIN      
        1 gggtgggtcc tagcagcgcg gcctgacggg accaaggcgg cgggagtctg cggtcgttcc
       61 ctcggctgtg gaccgggcgg cacgcacgcg gtgcagggta acatggcgga tgcggaagta
      121 attattttgc caaagaaaca taagaagaaa aaggagcgga agtcattgcc agaagaagat
      181 gtagccgaaa tacaacacgc tgaagaattt cttatcaaac ctgaatccaa agttgctaag
      241 ttggacacgt ctcagtggcc ccttttgcta aagaattttg ataagctgaa tgtaaggaca
      301 acacactata cacctcttgc atgtggttca aatcctctga agagagagat tggggactat
      361 atcaggacag gtttcattaa tcttgacaag ccctctaacc cctcttccca tgaggtggta
      421 gcctggattc gacggatact tcgggtggag aagacagggc acagtggtac gctggatccc
      481 aaggtgactg gttgtttaat cgtgtgcata gaacgagcca ctcgcttggt gaagtcacaa
      541 cagagtgcag gcaaagagta tgtggggatt gtccggctgc acaatgctat tgaagggggg
      601 acccagcttt ctagggccct agaaactctg acaggtgcct tattccagcg acccccactt
      661 attgctgcag taaagaggca gctccgagtg aggaccatct acgagagcaa aatgattgaa
      721 tacgatcctg aaagaagatt aggaatcttt tgggtgagtt gtgaggctgg cacctacatt
      781 cggacattat gtgtgcacct tggtttgtta ttgggagttg gtggtcagat gcaggagctt
      841 cggagggttc gttctggagt catgagtgaa aaggaccaca tggtgacaat gcatgatgtg
      901 cttgatgctc agtggctgta tgataaccac aaggatgaga gttacctgcg gcgagttgtt
      961 taccctttgg aaaagctgtt gacatctcat aaacggctgg ttatgaaaga cagtgcagta
     1021 aatgccatct gctatggggc caagattatg cttccaggtg ttcttcgata tgaggacggc
     1081 attgaggtca atcaggagat tgtggttatc accaccaaag gagaagcaat ctgcatggct
     1141 attgcattaa tgaccacagc ggtcatctct acctgcgacc atggtatagt agccaagatc
     1201 aagagagtga tcatggagag agacacttac cctcggaagt ggggtttagg tccaaaggca
     1261 agtcagaaga agctgatgat caagcagggc cttctggaca agcatgggaa gcccacagac
     1321 agcacacctg ccacctggaa gcaggagtat gttgactaca gtgagtctgc caaaaaagag
     1381 gtggttgctg aagtggtaaa agccccgcag gtagttgccg aagcagcaaa aactgcgaag
     1441 cggaagcgag agagtgagag tgaaagtgac gagactcctc cagcagctcc tcagttgatc
     1501 aagaaggaaa agaagaagag taagaaggac aagaaggcca aagctggtct ggagagcggg
     1561 gccgagcctg gagatgggga cagtgatacc accaagaaga agaagaagaa gaagaaagca
     1621 aaagaggtag aattggtttc tgagtagtga aggccacttg aagctggagg agaaactaaa
     1681 gccttattga gaaaacatgt tatagatcct tttgttgctg agagagtgga acataggtcc
     1741 tagacagggt gaagagttct ggcacatttt agctgctact ttgagacctc ggtgatgtta
     1801 cctggtgtgg tcatcccatc ttgtcctgtt ttaaggatat gggtggtgaa agatgaaaga
     1861 ggcagagttt atcccaatga cttctctgtt tgagttggga agcctcacct tcagacccag
     1921 taactgtccg cagctgtctg ctagtggttg tcttaacatc gtagtcctag tttgcatttt
     1981 ttaaatcccc tctgtttaaa aggtttgtaa aacaaaaaca aaaaactaag tctgctcagt
     2041 gaaatgctgt agaaccctaa ataagtggta gaagagtgtc actgaatttt gtctctgaat
     2101 tcagtataac tgagttttgt ccatgctggt gtctgggtta taggcctgat gggcctggta
     2161 gttttccatc ttgttctggc ctagaggtca gtcctttgca cttcctcaaa gcttgtgtac
     2221 agtgctcacc taaatccatc tgactacttg ttcctgtgcc ctcttgtttt aggcctcgtt
     2281 tacttttaaa aaatgaaatt gttcattgct gggagaagaa tgttgtaatt tttacttatt
     2341 aaagtcaact tgttaagttt tttatgtatt cctgttgggt tttcttgttg atctcatgct
     2401 agcagagcaa aaattgtaaa atattttgat taaaaatcta gggaccttta tgtcctattt
     2461 gaaatgtga
//
