Details for Gene DCTN1

GENE NAME DCTN1
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000204843
UNIPROT ACCESSION NUMBER Q14203
GO MOLECULAR FUNCTION ['protein kinase binding', 'tubulin binding', 'microtubule binding', 'protein binding', 'microtubule plus-end binding', 'tau protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04962; hsa05014; hsa05016; hsa05022; hsa05132; R-HSA-1280218; R-HSA-168256; R-HSA-199977; R-HSA-199991; R-HSA-2132295; R-HSA-2262752; R-HSA-3371497; R-HSA-381038; R-HSA-381070; R-HSA-381119; R-HSA-392499; R-HSA-446203; R-HSA-5653656; R-HSA-597592; R-HSA-6807878; R-HSA-6811436; R-HSA-6811442; R-HSA-8856688; R-HSA-8953897; R-HSA-948021
12 combinations linked to DCTN1 OLI964; OLI663; OLI283; OLI1638; OLI437; OLI277; OLI280; OLI271; OLI784; OLI953; OLI1631; OLI281
10 variants linked to DCTN1 DCTN1:c.586A>G, p.Ile196Val; DCTN1:c.3146G>A, p.Arg1049Gln; DCTN1:c.3746C>T, p.Thr1249Ile; DCTN1:c.3810C>A, p.His1270Gln; DCTN1:c.3799G>A, p.Glu1267Lys; DCTN1:c.3620T>C, p.Leu1207Pro; DCTN1:c.1843C>T, p.His615Tyr; DCTN1:c.*21C>T, ; DCTN1:c.3134T>C, p.Ile1045Thr; DCTN1:c.59C>T, p.Ala20Val
1 disease linked to DCTN1 Amyotrophic lateral sclerosis
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