AlphaFold predicted structure
NEK1 · Q96PY6
Mean pLDDT
56.8/ 100
Low
1,258 residues
Confidence breakdown
- Very high(≥ 90)17%
- Confident(70–90)27%
- Low(50–70)7%
- Very low(< 50)49%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
NEK1
Chr 4q33NIMA related kinase 1
- Aliases:
- NY-REN-55, KIAA1901
- MANE:
- ENST00000507142.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAmyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownClefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalSkeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
short-rib thoracic dysplasia 6 with or without polydactyly
0.81short rib-polydactyly syndrome
0.59amyotrophic lateral sclerosis
0.58Orofaciodigital syndrome type 2
0.58orofaciodigital syndrome type II
0.52smoking initiation
0.41connective tissue disorder
0.41motor neuron disorder
0.40short rib-polydactyly syndrome, Majewski type
0.38asphyxiating thoracic dystrophy 3
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Serine/threonine-protein kinase Nek1
Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA damage, NEK1 phosphorylates VDAC1 to limit mitochondrial cell death (PubMed:20230784). May be implicated in the control of meiosis (By similarity). Involved in cilium assembly (PubMed:21211617)
Diseases associated with NEK1
Curated MONDO disease pages that list NEK1 among their top associated genes.