LOCUS       NM_017774               3272 bp    mRNA    linear   PRI 22-JAN-2025
DEFINITION  Homo sapiens CDKAL1 threonylcarbamoyladenosine tRNA
            methylthiotransferase (CDKAL1), mRNA.
ACCESSION   NM_017774
VERSION     NM_017774.3
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 3272)
  AUTHORS   Wang,Y., Pan,H., Gong,X., Wang,Z., Qin,X., Zhou,S., Zhu,C., Hu,X.,
            Chen,S., Liu,H., Jin,H., Pang,Q. and Wu,W.
  TITLE     CDC123 promotes Hepatocellular Carcinoma malignant progression by
            regulating CDKAL1
  JOURNAL   Pathol Res Pract 254, 154987 (2024)
   PUBMED   38237400
  REMARK    GeneRIF: CDC123 promotes Hepatocellular Carcinoma malignant
            progression by regulating CDKAL1.
REFERENCE   2  (bases 1 to 3272)
  AUTHORS   Dziedziejko,V., Safranow,K., Kijko-Nowak,M., Sienko,J.,
            Malinowski,D., Szumilas,K. and Pawlik,A.
  TITLE     The Association between CDKAL1 Gene rs10946398 Polymorphism and
            Post-Transplant Diabetes in Kidney Allograft Recipients Treated
            with Tacrolimus
  JOURNAL   Genes (Basel) 14 (8), 1595 (2023)
   PUBMED   37628646
  REMARK    GeneRIF: The Association between CDKAL1 Gene rs10946398
            Polymorphism and Post-Transplant Diabetes in Kidney Allograft
            Recipients Treated with Tacrolimus.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3272)
  AUTHORS   Srinivasan,S., Liju,S., Sathish,N., Siddiqui,M.K., Anjana,R.M.,
            Pearson,E.R., Doney,A.S.F., Mohan,V., Radha,V. and Palmer,C.N.A.
  TITLE     Common and Distinct Genetic Architecture of Age at Diagnosis of
            Diabetes in South Indian and European Populations
  JOURNAL   Diabetes Care 46 (8), 1515-1523 (2023)
   PUBMED   37308106
  REMARK    GeneRIF: Common and Distinct Genetic Architecture of Age at
            Diagnosis of Diabetes in South Indian and European Populations.
REFERENCE   4  (bases 1 to 3272)
  AUTHORS   An,D.B., Ann,S.J., Seok,S., Kang,Y. and Lee,S.H.
  TITLE     Hepatic Cdkal1 deletion regulates HDL catabolism and promotes
            reverse cholesterol transport
  JOURNAL   Atherosclerosis 375, 21-29 (2023)
   PUBMED   37245423
  REMARK    GeneRIF: Hepatic Cdkal1 deletion regulates HDL catabolism and
            promotes reverse cholesterol transport.
REFERENCE   5  (bases 1 to 3272)
  AUTHORS   Huang,C., Guo,Y., Li,W., Xiang,B., Zeng,J., Zhou,F., She,L.,
            Zhang,P., Wang,S., Liu,B., Dai,Q. and Yang,M.
  TITLE     Association of the CDKAL1 gene polymorphism with gestational
            diabetes mellitus in Chinese women
  JOURNAL   BMJ Open Diabetes Res Care 11 (2) (2023)
   PUBMED   37055162
  REMARK    GeneRIF: Association of the CDKAL1 gene polymorphism with
            gestational diabetes mellitus in Chinese women.
REFERENCE   6  (bases 1 to 3272)
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Genome-wide association study of 14,000 cases of seven common
            diseases and 3,000 shared controls
  JOURNAL   Nature 447 (7145), 661-678 (2007)
   PUBMED   17554300
REFERENCE   7  (bases 1 to 3272)
  AUTHORS   Zeggini,E., Weedon,M.N., Lindgren,C.M., Frayling,T.M.,
            Elliott,K.S., Lango,H., Timpson,N.J., Perry,J.R., Rayner,N.W.,
            Freathy,R.M., Barrett,J.C., Shields,B., Morris,A.P., Ellard,S.,
            Groves,C.J., Harries,L.W., Marchini,J.L., Owen,K.R., Knight,B.,
            Cardon,L.R., Walker,M., Hitman,G.A., Morris,A.D., Doney,A.S.,
            McCarthy,M.I. and Hattersley,A.T.
  CONSRTM   Wellcome Trust Case Control Consortium (WTCCC)
  TITLE     Replication of genome-wide association signals in UK samples
            reveals risk loci for type 2 diabetes
  JOURNAL   Science 316 (5829), 1336-1341 (2007)
   PUBMED   17463249
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Science. 2007 Aug 24;317(5841):1035-6]
REFERENCE   8  (bases 1 to 3272)
  AUTHORS   Scott,L.J., Mohlke,K.L., Bonnycastle,L.L., Willer,C.J., Li,Y.,
            Duren,W.L., Erdos,M.R., Stringham,H.M., Chines,P.S., Jackson,A.U.,
            Prokunina-Olsson,L., Ding,C.J., Swift,A.J., Narisu,N., Hu,T.,
            Pruim,R., Xiao,R., Li,X.Y., Conneely,K.N., Riebow,N.L., Sprau,A.G.,
            Tong,M., White,P.P., Hetrick,K.N., Barnhart,M.W., Bark,C.W.,
            Goldstein,J.L., Watkins,L., Xiang,F., Saramies,J., Buchanan,T.A.,
            Watanabe,R.M., Valle,T.T., Kinnunen,L., Abecasis,G.R., Pugh,E.W.,
            Doheny,K.F., Bergman,R.N., Tuomilehto,J., Collins,F.S. and
            Boehnke,M.
  TITLE     A genome-wide association study of type 2 diabetes in Finns detects
            multiple susceptibility variants
  JOURNAL   Science 316 (5829), 1341-1345 (2007)
   PUBMED   17463248
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 3272)
  AUTHORS   Saxena,R., Voight,B.F., Lyssenko,V., Burtt,N.P., de Bakker,P.I.,
            Chen,H., Roix,J.J., Kathiresan,S., Hirschhorn,J.N., Daly,M.J.,
            Hughes,T.E., Groop,L., Altshuler,D., Almgren,P., Florez,J.C.,
            Meyer,J., Ardlie,K., Bengtsson Bostrom,K., Isomaa,B., Lettre,G.,
            Lindblad,U., Lyon,H.N., Melander,O., Newton-Cheh,C., Nilsson,P.,
            Orho-Melander,M., Rastam,L., Speliotes,E.K., Taskinen,M.R.,
            Tuomi,T., Guiducci,C., Berglund,A., Carlson,J., Gianniny,L.,
            Hackett,R., Hall,L., Holmkvist,J., Laurila,E., Sjogren,M.,
            Sterner,M., Surti,A., Svensson,M., Svensson,M., Tewhey,R.,
            Blumenstiel,B., Parkin,M., Defelice,M., Barry,R., Brodeur,W.,
            Camarata,J., Chia,N., Fava,M., Gibbons,J., Handsaker,B., Healy,C.,
            Nguyen,K., Gates,C., Sougnez,C., Gage,D., Nizzari,M., Gabriel,S.B.,
            Chirn,G.W., Ma,Q., Parikh,H., Richardson,D., Ricke,D. and
            Purcell,S.
  CONSRTM   Diabetes Genetics Initiative of Broad Institute of Harvard and MIT,
            Lund University, and Novartis Institutes of BioMedical Research
  TITLE     Genome-wide association analysis identifies loci for type 2
            diabetes and triglyceride levels
  JOURNAL   Science 316 (5829), 1331-1336 (2007)
   PUBMED   17463246
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   10 (bases 1 to 3272)
  AUTHORS   Steinthorsdottir,V., Thorleifsson,G., Reynisdottir,I.,
            Benediktsson,R., Jonsdottir,T., Walters,G.B., Styrkarsdottir,U.,
            Gretarsdottir,S., Emilsson,V., Ghosh,S., Baker,A., Snorradottir,S.,
            Bjarnason,H., Ng,M.C., Hansen,T., Bagger,Y., Wilensky,R.L.,
            Reilly,M.P., Adeyemo,A., Chen,Y., Zhou,J., Gudnason,V., Chen,G.,
            Huang,H., Lashley,K., Doumatey,A., So,W.Y., Ma,R.C., Andersen,G.,
            Borch-Johnsen,K., Jorgensen,T., van Vliet-Ostaptchouk,J.V.,
            Hofker,M.H., Wijmenga,C., Christiansen,C., Rader,D.J., Rotimi,C.,
            Gurney,M., Chan,J.C., Pedersen,O., Sigurdsson,G., Gulcher,J.R.,
            Thorsteinsdottir,U., Kong,A. and Stefansson,K.
  TITLE     A variant in CDKAL1 influences insulin response and risk of type 2
            diabetes
  JOURNAL   Nat Genet 39 (6), 770-775 (2007)
   PUBMED   17460697
  REMARK    GeneRIF: Single Nucleotide polymorphism in CDK5 regulatory subunit
            associated protein 1-like 1 is associated with type 2 diabetes
            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 AK128546.1, BC121020.1 and
            AL451080.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 16, 2010 this sequence version replaced NM_017774.2.
            
            Summary: The protein encoded by this gene is a member of the
            methylthiotransferase family. The function of this gene is not
            known. Genome-wide association studies have linked single
            nucleotide polymorphisms in an intron of this gene with
            susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010].
            
            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 :: SRR1803611.146631.1,
                                           SRR1803616.131533.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274695.8/ ENSP00000274695.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AK128546.1         1-70
            71-2030             BC121020.1         1-1960
            2031-3272           AL451080.11        24559-25800
FEATURES             Location/Qualifiers
     source          1..3272
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.3"
     gene            1..3272
                     /gene="CDKAL1"
                     /note="CDKAL1 threonylcarbamoyladenosine tRNA
                     methylthiotransferase"
                     /db_xref="GeneID:54901"
                     /db_xref="HGNC:HGNC:21050"
                     /db_xref="MIM:611259"
     exon            1..118
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            119..162
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            163..340
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..1907
                     /gene="CDKAL1"
                     /EC_number="2.8.4.5"
                     /note="tRNA-t(6)A37 methylthiotransferase; CDK5 regulatory
                     subunit associated protein 1 like 1"
                     /codon_start=1
                     /product="threonylcarbamoyladenosine tRNA
                     methylthiotransferase"
                     /protein_id="NP_060244.2"
                     /db_xref="CCDS:CCDS4546.1"
                     /db_xref="GeneID:54901"
                     /db_xref="HGNC:HGNC:21050"
                     /db_xref="MIM:611259"
                     /translation="MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQ
                     KYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAYGYKITENASDAD
                     LWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQI
                     DRVVEVVEETIKGHSVRLLGQKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNAC
                     TYCKTKHARGNLASYPIDELVDRAKQSFQEGVCEIWLTSEDTGAYGRDIGTNLPTLLW
                     KLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMK
                     REYCVADFKRVVDFLKEKVPGITIATDIICGFPGETDQDFQETVKLVEEYKFPSLFIN
                     QFYPRPGTPAAKMEQVPAQVKKQRTKDLSRVFHSYSPYDHKIGERQQVLVTEESFDSK
                     FYVAHNQFYEQVLVPKNPAFMGKMVEVDIYESGKHFMKGQPVSDAKVYTPSISKPLAK
                     GEVSGLTKDFRNGLGNQLSSGSHTSAASQCDSASSRMVLPMPRLHQDCALRMSVGLAL
                     LGLLFAFFVKVYN"
     exon            341..453
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            454..538
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            539..635
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            636..684
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            685..805
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            806..909
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1076
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1222
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1403
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1466
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1467..1550
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1715
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1716..3272
                     /gene="CDKAL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3249..3254
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDKAL1"
                     /note="hexamer: AATAGA"
     polyA_site      3272
                     /gene="CDKAL1"
                     /note="major polyA site"
ORIGIN      
        1 aaataaacgt ggcgggacgt atgtgtcatg gcgctctcca tctaaagtct gtgcagcttc
       61 cggagagtgg cgggttgatt ttctcacttt ggactggttt ttacttcccg acttctggac
      121 tcatctttca agaggacttt agactaattg cagataatta agagaatatg ccttctgcat
      181 cctgtgatac actactggat gacatcgaag atatcgtgtc tcaggaagat tcaaaaccac
      241 aagataggca ttttgtaaga aaggatgttg tcccgaaggt acgaaggcga aatacccaaa
      301 aatatttgca agaggaagaa aacagtccac caagtgacag cactattcca ggcatacaga
      361 aaatttggat acgaacatgg ggttgttctc ataataattc agatggagaa tatatggctg
      421 gacagctagc tgcttatggc tataaaatta cagaaaatgc atccgatgca gatttatggc
      481 tcctgaacag ttgcactgta aaaaacccag ctgaagacca ctttagaaac tcaattaaaa
      541 aagctcaaga ggagaacaag aaaatcgtac tggctggatg cgttcctcaa gcccagcctc
      601 gccaggacta ccttaaggga ctgagtatca ttggggttca gcagatagat cgtgtggtag
      661 aagttgtgga ggagacaatt aaaggtcact ctgtgagact gctgggtcag aaaaaggata
      721 atggaaggcg gcttggggga gcacgattgg atttgccgaa gattaggaag aatccactga
      781 tagaaatcat ttccatcaat accgggtgtc tcaatgcttg tacctactgc aaaactaaac
      841 acgccagagg aaatttggcc agttatccaa ttgatgaact agtagataga gccaaacaat
      901 cttttcaaga gggtgtttgt gagatatggt tgaccagtga agacacgggg gcttatggca
      961 gagatattgg caccaatctc cccacactcc tgtggaaact ggttgaagtg attcctgagg
     1021 gagcaatgct gaggcttggc atgacaaatc cgccctatat tttagagcat ctggaggaaa
     1081 tggcaaaaat ccttaatcac cccagagtct acgcttttct gcacatacca gtccagtctg
     1141 cctccgacag cgtactcatg gaaatgaaaa gagaatactg tgtggctgac ttcaaaagag
     1201 tagtggattt tctgaaagag aaagttcctg gaataactat tgctacagat attatctgtg
     1261 gttttcctgg agaaacagat caggattttc aagaaacagt gaaacttgtt gaagagtaca
     1321 aattcccaag cctgtttatt aaccaatttt acccaagacc aggaactcct gctgcaaaaa
     1381 tggaacaagt tccagcacaa gtgaaaaagc aaaggacaaa agatctttct cgggtgtttc
     1441 attcttacag tccatatgat cacaagattg gtgaaagaca acaagtgtta gtaacagaag
     1501 aatcttttga ttccaagttt tatgttgcac acaatcaatt ctatgagcag gttttagtgc
     1561 caaagaaccc tgcgttcatg gggaagatgg ttgaagtgga catctatgaa tcaggcaaac
     1621 attttatgaa agggcagcca gtatctgatg ccaaagtgta cacgccctcc atcagcaaac
     1681 cgctagcaaa gggagaagtc tcgggtttga caaaggactt cagaaatggg cttgggaacc
     1741 agctgagttc aggatcccac acctctgctg catctcagtg tgactcagcg agttccagaa
     1801 tggtgctgcc catgccaagg ctacatcaag actgtgcgct gaggatgtcc gtgggcttgg
     1861 ctctgctggg tcttcttttt gctttttttg tcaaggtcta taattagaat acaactaatg
     1921 gaaacatcta taaagaagaa tacatttcta attaaaatct tcaatgaaca ggaaagcgac
     1981 atctccattc tccaagggca ataatttgta ctggtcatgc tgcctccttc tcagccactc
     2041 ttcttaatga ggctccccct gtctcacatt gagttgggcc cattggttat ttgacctaaa
     2101 acctaatcac cgctaccata gcacatcctt caaattaaac tgcttttggt ttacttttag
     2161 caagaaatgc aagcggttgc atttttttct gtttgtttca atctctaatc tttaagtcag
     2221 aacctaattg tacagtggct ctggccatct tttcctcatg tggaagaatt ttctatcttt
     2281 aataaacttt ttctttgttt tttttttcca gatggagttt cgctcttgtc ccccaggctg
     2341 gagtggtgca gtggcacgat ctcaggtcac tgcaacctct gcctcctggg ttcaaacgat
     2401 tctcctgcct cagcctccca agtagctggg attacaggca tgcgccacca agcccagaca
     2461 atttttttgt gttttcagta gagacggagt ttcaccatgt tggccaggct agtctcgaac
     2521 tcctgacctc aagtgatccg cccgcctcgg cctcccaaag tgctaggatt acaggcgtga
     2581 gccactgcgc ccggcctctt taataaatat ttttaagtgc atcttcccct tcaggctttg
     2641 tttggagtcc cagtgctaca aacattgtat ttttcacagc agatgtgttc ctgaaaagtg
     2701 tatagaaacc tgttctggga acctgaatgc ttttggaatg cacggggaga gtctgccagc
     2761 taaaggactc ctggcaacat tctgtgaaat atgaaactgg aaaactggat ttgtcgaaaa
     2821 ctaattgtgc ccattttctc acatttttga tccattgggg tttttttttt gtttttgttt
     2881 tttttttttt ttgagtcaag gtctcactct gtcaccctgg ctggagtgca atggcactat
     2941 cttggctcac tgcagccttg acctcctgga ctcaagcagt cctcctacct cagcctccct
     3001 aatagccagg ggctacaggc atataccacc atgcccaact aattttttaa ttttttgtag
     3061 agatgagtgt cactatgttg cccaggcttg cctggaactc ctagcctcaa gcagtcttct
     3121 tgcctcagcc tcccaaagtg ctgggattac aggcgtgagc cactccaccc agcccagatt
     3181 aaatgttttt atttctacct gccatcattg gtctttacta agtgaagtga cttctttctt
     3241 taacaataaa tagaattggt atactaagca aa
//
