DISEASES

Disease-gene associations mined from literature

Literature on SMCR8

SMCR8 [ENSP00000385025]

Guanine nucleotide exchange protein SMCR8; Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity . Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates . In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes . ECO:0000269|PubMed:27193190, ECO:0000269|PubMed:27559131,

Synonyms:  SMCR8,  SMCR8p,  hSMCR8,  Q8TEV9,  Q8TEV9p ...

Linkouts:  STRING  Pharos  UniProt