LOCUS NM_017774 3272 bp mRNA linear PRI 03-APR-2024
DEFINITION Homo sapiens CDK5 regulatory subunit associated protein 1 like 1
(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="CDK5 regulatory subunit associated protein 1 like
1"
/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"
misc_feature 159..161
/gene="CDKAL1"
/note="upstream in-frame stop codon"
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"
/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"
misc_feature 324..326
/gene="CDKAL1"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (Q5VV42.1); phosphorylation site"
misc_feature 531..533
/gene="CDKAL1"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (Q5VV42.1); phosphorylation site"
misc_feature 1662..1664
/gene="CDKAL1"
/note="Phosphothreonine.
/evidence=ECO:0007744|PubMed:18669648,
ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (Q5VV42.1); phosphorylation site"
misc_feature 1833..1901
/gene="CDKAL1"
/note="propagated from UniProtKB/Swiss-Prot (Q5VV42.1);
transmembrane region"
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
//