Details for Gene NEK1

GENE NAME NEK1
CHROMOSOME 4
ENSEMBL ID None
ENTREZ ID ENSG00000137601
UNIPROT ACCESSION NUMBER Q96PY6
GO MOLECULAR FUNCTION ['protein tyrosine kinase activity', 'protein serine kinase activity', 'protein serine/threonine/tyrosine kinase activity', 'protein binding', 'protein kinase activity', 'protein serine/threonine kinase activity', '14-3-3 protein binding', 'metal ion binding', 'kinase activity', 'ATP binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS
25 combinations linked to NEK1 OLI826; OLI969; OLI983; OLI1628; OLI624; OLI1619; OLI968; OLI458; OLI1014; OLI1008; OLI951; OLI964; OLI1013; OLI1588; OLI1627; OLI1630; OLI1010; OLI1009; OLI827; OLI954; OLI984; OLI949; OLI1012; OLI970; OLI1011
22 variants linked to NEK1 NEK1:c.1640dup, p.Asn547LysfsTer2; NEK1:c.782G>A, p.Arg261His; NEK1:c.749A>G, p.Asn250Ser; NEK1:c.259dupG, p.Asp87fs; NEK1:c.1562+1G>A, ; NEK1:c.1381delA, p.Arg461fs; NEK1:c.2255A>G, p.Glu752Gly; NEK1:c.1388C>T, p.Ala463Val; NEK1:c.165G>T, p.Lys55Phe; NEK1:c.277A>G, p.Asn93Asp; NEK1:c.2137G>A, p.Val713Met; NEK1:c.1021G>A, p.Ala341Thr; NEK1:c.1138C>G, p.Gln380Glu; NEK1:c.1665G>A, p.Met555Ile; NEK1:c.1942A>G, p.Lys648Glu; NEK1:c.2726C>G, p.Ser909Cys; NEK1:c.3301C>T, p.Arg1073Cys; NEK1:p.Glu102Ter; NEK1:c.1142T>A, p.Ile381Asn; NEK1:c.3637C>A, p.His1213Asn; NEK1:c.89A>G, p.Tyr30Cys; NEK1:c.3107C>G, p.Ser1036Ter
4 diseases linked to NEK1 Overgrowth or tall stature syndrome with skeletal involvement; Short rib-polydactyly syndrome; Amyotrophic lateral sclerosis; Odontochondrodysplasia
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