CDK5 Regulatory Subunit-Associated Protein 1-Like 1

Alternative Names

CDKAL1

Length

697,948 bases

No. of Exons

No. of isoforms

Protein Name

Threonylcarbamoyladenosine tRNA methylthiotransferase

Molecular Mass

65111 Da

Amino Acid Count

579

Genomic Location

chr6:20,534,457-21,232,404

Gene Map Locus

6p22.3

Description

The protein encoded by CDKAL1 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. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_017774.3:c.371+10198T>C	Lebanon	NC_000006.12:g.20659575T>C		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.130119T>C; NM_017774.3:c.371+10198T>C	6456368
NM_017774.3:c.371+10757T>C	Lebanon	NC_000006.12:g.20660134T>C		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.130678T>C; NM_017774.3:c.371+10757T>C	6456369
NM_017774.3:c.371+11082G>A	Lebanon	NC_000006.12:g.20660459G>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.131003G>A; NM_017774.3:c.371+11082G>A	10946396
NM_017774.3:c.371+11312C>A	Lebanon	NC_000006.12:g.20660689C>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.131233C>A; NM_017774.3:c.371+11312C>A	1237176501
NM_017774.3:c.371+11426A>C	United Arab Emirates	NC_000006.12:g.20660803A>C	Uncertain Significance			NG_021195.2:g.131347A>C; NM_017774.3:c.371+11426A>C; NP_060244.2:p.?	10946398	986
NM_017774.3:c.371+11642G>C	Lebanon	NC_000006.12:g.20661019G>C	Risk factor	Association	Type 2 Diabetes Mellitus	NG_021195.1:g.131563G>C; NM_017774.3:c.371+11642G>C	7754840	812171
NM_017774.3:c.371+12609T>C	Lebanon	NC_000006.12:g.20661986T>C		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.132530T>C; NM_017774.3:c.371+12609T>C	35456723
NM_017774.3:c.371+16414G>A	Lebanon	NC_000006.12:g.20665791G>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.136335G>A; NM_017774.3:c.371+16414G>A	7752780
NM_017774.3:c.371+24272T>C	Lebanon	NC_000006.12:g.20673649T>C		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.144193T>C; NM_017774.3:c.371+24272T>C	7451008
NM_017774.3:c.371+26184C>A	Lebanon	NC_000006.12:g.20675561C>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.146105C>A; NM_017774.3:c.371+26184C>A	35261542
NM_017774.3:c.371+29702T>G	Lebanon	NC_000006.12:g.20679079T>G		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.149623T>G; NM_017774.3:c.371+29702T>G	1569699
NM_017774.3:c.371+30101A>G	Lebanon	chr6:20679478		Association	Type 2 Diabetes Mellitus	NG_021195.2:g.150022A>G; NM_017774.3:c.371+30101A>G	7756992	987
NM_017774.3:c.371+31070T>A	Lebanon	NC_000006.12:g.20680447T>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.150991T>A; NM_017774.3:c.371+31070T>A	9348441
NM_017774.3:c.371+3109C>G	Lebanon	NC_000006.12:g.20652486C>G		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.123030C>G; NM_017774.3:c.371+3109C>G	9295474
NM_017774.3:c.371+33556G>A	Lebanon	NC_000006.12:g.20682933G>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.153477G>A; NM_017774.3:c.371+33556G>A	9350271
NM_017774.3:c.371+36965C>A	Lebanon	NC_000006.12:g.20686342C>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.156886C>A; NM_017774.3:c.371+36965C>A	7766070
NM_017774.3:c.371+37388C>A	Lebanon	NC_000006.12:g.20686765C>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.157309C>A; NM_017774.3:c.371+37388C>A	9368222
NM_017774.3:c.371+8404A>C	Lebanon	NC_000006.12:g.20657781A>C		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.128325A>C; NM_017774.3:c.371+8404A>C	4710940
NM_017774.3:c.371+9979T>A	Lebanon	NC_000006.12:g.20659356T>A		Association	Type 2 Diabetes Mellitus	NG_021195.1:g.129900T>A; NM_017774.3:c.371+9979T>A	6456367

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=CDKAL1

Contributors

Pratibha Nair: 07.03.2022
Asha Deepthi: 18.02.2021
Asha Deepthi: 20.05.2020

Edit History

Pratibha Nair: 07.03.2022
Asha Deepthi: 18.02.2021
Asha Deepthi: 20.05.2020

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