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SMCR8 - SMCR8-C9orf72 complex subunit Gene

Also Known as DENND8A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 140775

About SMCR8

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,315,293-18,328,056 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele and 199 orthologues. Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 8.2) and 25 other tissues.

Summary

Enables protein kinase binding activity and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of macromolecule metabolic process; regulation of TOR signaling; and regulation of macroautophagy. Located in chromatin; cytoplasm; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. Colocalizes with Atg1/ULK1 kinase complex. [provided by Alliance of Genome Resources, Apr 2022]

SMCR8 Products (1)

mRNA	Protein	Name
NM_144775.3	NP_658988.2	guanine nucleotide exchange protein SMCR8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IMP IMP: Inferred from mutant phenotype	32303654	GOA
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	27103069	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	27103069	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	27103069	GOA
enables protein kinase inhibitor activity	IMP IMP: Inferred from mutant phenotype	28195531	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of autophagosome assembly	IMP IMP: Inferred from mutant phenotype	28195531	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	28195531	GOA
involved in negative regulation of macroautophagy	IMP IMP: Inferred from mutant phenotype	28195531	GOA
involved in positive regulation of TOR signaling	IMP IMP: Inferred from mutant phenotype	28195531	GOA
involved in positive regulation of autophagosome maturation	IMP IMP: Inferred from mutant phenotype	28195531	GOA
involved in regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	27559131	GOA
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	27103069	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Atg1/ULK1 kinase complex	IDA IDA: Inferred from direct assay	27193190	GOA
located in chromatin	IDA IDA: Inferred from direct assay	28195531	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	27193190	GOA
part of guanyl-nucleotide exchange factor complex	IDA IDA: Inferred from direct assay	27103069	GOA
part of guanyl-nucleotide exchange factor complex	IPI IPI: Inferred from physical interaction	29950492	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	28195531	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMCR8 Protein Structure

Folliculin

0
200
400
600
800
937 a.a.

Protein Preferred Names	Protein Names
guanine nucleotide exchange protein SMCR8	Smith-Magenis syndrome chromosome region, candidate 8

SMCR8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMCR8	Q8TEV9	C9orf72	Homo sapiens	Q96LT7	Validated Y2H	32296183
Intra	SMCR8	Q8TEV9	C9orf72	Homo sapiens	Q96LT7	Validated Y2H	27107012

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
Birt-Hogg-Dube Syndrome	Hornstein-Knickenberg Syndrome Fibrofolliculomas With Trichodiscomas And Acrochordons BHD Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculoma Familial Bhd Syndrome Birt Hogg Dube Syndrome Hornstein-Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculomas
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13428	SMCR8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SMCR8	VGNC	VGNC:104654
Bos taurus	SMCR8	VGNC	VGNC:58472
Rattus norvegicus	SMCR8	RGD	RGD:1564621
Felis catus	SMCR8	VGNC	VGNC:65484
Mus musculus	SMCR8	MGD	MGI:2444720
Others	SMCR8	NCBI