SMCR8 - SMCR8-C9orf72 complex subunit Gene

Homo sapiens

Also known as DENND8A

Gene ID: 140775 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.