Details for Gene SQSTM1

GENE NAME SQSTM1
CHROMOSOME 5
ENSEMBL ID None
ENTREZ ID ENSG00000161011
UNIPROT ACCESSION NUMBER Q13501
GO MOLECULAR FUNCTION ['protein kinase C binding', 'zinc ion binding', 'ubiquitin protein ligase binding', 'ubiquitin binding', 'enzyme binding', 'protein kinase binding', 'protein binding', 'K63-linked polyubiquitin modification-dependent protein binding', 'receptor tyrosine kinase binding', 'ionotropic glutamate receptor binding', 'protein serine/threonine kinase activity', 'SH2 domain binding', 'identical protein binding', 'protein-containing complex binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04137; hsa04140; hsa04217; hsa04218; hsa04380; hsa05014; hsa05022; hsa05131; hsa05418; R-HSA-1280215; R-HSA-162582; R-HSA-1632852; R-HSA-168256; R-HSA-193639; R-HSA-193704; R-HSA-204998; R-HSA-205043; R-HSA-209543; R-HSA-209560; R-HSA-446652; R-HSA-449147; R-HSA-5205647; R-HSA-5205685; R-HSA-73887; R-HSA-9020702; R-HSA-9612973; R-HSA-9663891; R-HSA-9664873
18 combinations linked to SQSTM1 OLI272; OLI404; OLI275; OLI1632; OLI824; OLI823; OLI1394; OLI1623; OLI440; OLI022; OLI636; OLI1732; OLI1637; OLI1400; OLI1700; OLI952; OLI633; OLI1430
13 variants linked to SQSTM1 SQSTM1:c.1175C>T, p.Pro392Leu; SQSTM1:c.457G>A, p.Val153Ile; SQSTM1:c.712A>G, p.Lys238Glu; SQSTM1:c.911C>T, p.Thr304Met; SQSTM1:c.822G>C, p.Glu274Asp; SQSTM1:c.1178G>A, p.Arg393Gln; SQSTM1:c.1165G>C, p.Glu389Gln; SQSTM1:c.799C>T, p.Arg267Cys; SQSTM1:c.1088G>A, p.Gly363Glu; SQSTM1:c.374A>G, p.Asn125Ser; SQSTM1:c.1175C>T, p.Pro392Leu; SQSTM1:c.754+1G>T, ; SQSTM1:p.Gly262Arg
5 diseases linked to SQSTM1 Amyotrophic lateral sclerosis; Facial onset sensory and motor neuronopathy; Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype; Distal myopathy
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