Recombinant Human Smith-Magenis syndrome chromosomal region candidate gene 8 protein (SMCR8), Truncated

Uniprot Id

Q8TEV9

Target Species

Human

Target Name

SMCR8

Target Full Name

Guanine nucleotide exchange protein SMCR8

Target Function

Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy. 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. 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

Target Subcellular Location

Cytoplasm. Nucleus.

Target Protein Families

SMCR8 family

Target Tissue Specificity

Expressed in all tissues tested.

Target Synonyms

SMCR8; Guanine nucleotide exchange protein SMCR8; Smith-Magenis syndrome chromosomal region candidate gene 8 protein