NIMA-Related Kinase 1

Alternative Names

NEK1
Never in Mitosis Gene A-Related Kinase 1
KIAA1901

Length

219,821 bases

No. of Exons

No. of isoforms

Protein Name

Serine/threonine-protein kinase Nek1

Molecular Mass

142828 Da

Amino Acid Count

1258

Genomic Location

chr4:169,392,808-169,612,628

Gene Map Locus

4q33

Description

The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001199397.3:c.1690_1691del	Saudi Arabia	NC_000004.12:g.169508828_169508829del	Likely Pathogenic, Pathogenic	Pathogenic	Short-Rib Thoracic Dysplasia 6 with or without Polydactyly	NG_027982.1:g.108800_108801del; NM_001199397.3:c.1690_1691del; NP_001186326.1:p.Met564ValfsTer35	786205645	191325

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=nek1

Contributors

Asha Deepthi: 03.02.2022

Edit History

Asha Deepthi: 03.02.2022

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