C9orf72

C9orf72-SMCR8 complex subunit

General Information

Name	C9orf72-SMCR8 complex subunit
Alias	guanine nucleotide exchange factor C9orf72 guanine nucleotide exchange C9orf72 protein C9orf72
Gene_family	SWC tripartite complex\|DENN domain containing
organism	Homo sapiens
entrez_id	203228
location	9p21.2
transcript_count	3
exon_count	12

Cross References

Location

by NCBI GRCh38.p14

Summary

Entrez The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]

Stringdb Guanine nucleotide exchange C9orf72; 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 regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity. Positively [...]

nextProt Regulates stress granule assembly in response to cellular stress.

Interactions

NCBI

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C9orf72	BioGRID	Rab18	GeneID	BioGRID	Proximity Label-MS
C9orf72	BioGRID	ATG16L1	GeneID	BioGRID	Proximity Label-MS
C9orf72	BioGRID	ORF1ab	GeneID	BioGRID	Protein-RNA
C9orf72	BioGRID	RET	GeneID	BioGRID	Proximity Label-MS
C9orf72	BioGRID	EPHA8	GeneID	BioGRID	Proximity Label-MS
C9orf72	BioGRID	PRKN	GeneID	BioGRID	Affinity Capture-MS
C9orf72	BioGRID	RAB7A	GeneID	BioGRID	Proximity Label-MS
C9orf72	BioGRID	RHOQ	GeneID	BioGRID	Affinity Capture-MS
C9orf72	BioGRID	RHOG	GeneID	BioGRID	Affinity Capture-MS
C9orf72	BioGRID	RHOA	GeneID	BioGRID	Affinity Capture-MS

Showing 1 to 10 of 124 entries

StringDB

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C9orf72	UBAP1	0	0	155	154	1	1
C9orf72	RAB35	0	0	135	152	1	1
C9orf72	PKP3	270	0	0	270	1	1
C9orf72	YEATS2	0	0	134	165	1	1
C9orf72	TMEM106B	0	0	807	812	1	1
C9orf72	TSPO	0	0	169	175	1	1
C9orf72	TXNRD1	0	0	0	206	1	1
C9orf72	RAB1A	270	800	960	993	1	1
C9orf72	FAM105A	98	0	0	456	1	1
C9orf72	C9orf92	0	0	293	297	1	1

Showing 1 to 10 of 632 entries

Ontologies

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GO:0000932	Cellular Component	P-body	located_in	IDA
GO:0001933	Biological Process	negative regulation of protein phosphorylation	involved_in	IMP
GO:0005085	Molecular Function	guanyl-nucleotide exchange factor activity	contributes_to	IDA
GO:0005515	Molecular Function	protein binding	enables	IPI
GO:0005615	Cellular Component	extracellular space	located_in	IDA
GO:0005634	Cellular Component	nucleus	located_in	IDA
GO:0005737	Cellular Component	cytoplasm	located_in	IDA
GO:0005764	Cellular Component	lysosome	located_in	IDA
GO:0005768	Cellular Component	endosome	is_active_in	IBA
GO:0005768	Cellular Component	endosome	located_in	IDA

Showing 1 to 10 of 41 entries

Pathways

Name	DB	ID
Mesodermal commitment pathway (WP2857)	WikiPathways	WP2857_r118395

Transcripts

Accession	Version	MolecularType	Name	NCBI	Comments
NM_001256054	3	mRNA	transcript variant 3	NC_000009	Reference
NM_018325	5	mRNA	transcript variant 2	NC_000009	Reference
NM_145005	7	mRNA	transcript variant 1	NC_000009	Reference