Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Serine/threonine-protein kinase NEK1

The NEK1 gene encodes a protein kinase which is involved in control of DNA double-strand repair, neuronal development, and coordination of ciliogenesis. Mutations cause autosomal recessive and digenic recessive Short-rib thoracic dysplasia with or without polydactyly type 6.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Short-rib thoracic dysplasia with or without polydactyly 06
NEK1

References:

1.

Nagase T et. al. (2001) Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.

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2.

Thiel C et. al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

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3.

El Hokayem J et. al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

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4.

Letwin K et. al. (1992) A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells.

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5.

Janaswami PM et al. (1997) Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.

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6.

Vogler C et. al. (1999) Clinical and pathologic findings in two new allelic murine models of polycystic kidney disease.

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7.

Upadhya P et. al. (2000) Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice.

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8.

Surpili MJ et. al. (2003) Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1.

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9.

Polci R et. al. (2004) NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response.

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10.

Chen Y et. al. (2008) Never-in-mitosis related kinase 1 functions in DNA damage response and checkpoint control.

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11.

Hilton LK et. al. (2009) The NIMA-related kinase NEK1 cycles through the nucleus.

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12.

Fang X et. al. (2015) The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.

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Update: Sept. 26, 2018