SMCR8 report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of SMCR8 at tissue level.

III. Associated gene sets

GO_0016242Biological processnegative regulation of macroautophagy
GO_0043547Biological processpositive regulation of GTPase activity
GO_0010629Biological processnegative regulation of gene expression
GO_1903432Biological processregulation of TORC1 signaling
GO_0050777Biological processnegative regulation of immune response
GO_0010506Biological processregulation of autophagy
GO_1902902Biological processnegative regulation of autophagosome assembly
GO_0006914Biological processautophagy
GO_0045920Biological processnegative regulation of exocytosis
GO_1901098Biological processpositive regulation of autophagosome maturation
GO_0032008Biological processpositive regulation of TOR signaling
GO_0098793Cellular componentpresynapse
GO_0032045Cellular componentguanyl-nucleotide exchange factor complex
GO_0005654Cellular componentnucleoplasm
GO_0098794Cellular componentpostsynapse
GO_1990316Cellular componentAtg1/ULK1 kinase complex
GO_0005737Cellular componentcytoplasm
GO_0042995Cellular componentcell projection
GO_0000785Cellular componentchromatin
GO_0004860Molecular functionprotein kinase inhibitor activity
GO_0005085Molecular functionguanyl-nucleotide exchange factor activity
GO_0019901Molecular functionprotein kinase binding
GO_0005096Molecular functionGTPase activator activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameSMCR8
Protein nameGuanine nucleotide exchange protein SMCR8 (Smith-Magenis syndrome chromosomal region candidate gene 8 protein)
Synonyms
DescriptionFUNCTION: 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 ULK1/ATG1 kinase complex and inhibiting its protein kinase activity . As part of the C9orf72-SMCR8 complex, stimulates RAB8A and RAB11A GTPase activity in vitro . 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 . .

AccessionsQ8TEV9
ENST00000406438.5 [Q8TEV9-1]
ENST00000639332.2 [Q8TEV9-1]