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Guidelines

MIRAGE

C9orf72-SMCR8 complex subunit

Summary

Gene Symbol

C9orf72

Organism

Homo sapiens (human)

External Links

NCBI Gene

203228

PubChem

203228

Alliance of Genome Resources

HGNC:28337

Annotation

Keyword

3D-structure
Alternative splicing
Amyotrophic lateral sclerosis
Autophagy
Cell projection
Cytoplasm
Cytoplasmic vesicle
Endosome
Guanine-nucleotide releasing factor
Lysosome
Membrane
Nucleus
Proteomics identification
Reference proteome
Secreted
Synapse

Proteins

Displaying 1 entry
UniProt	Protein Name
Q96LT7

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 19 in total

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GO Term	Evidence Code	PMID
negative regulation of protein phosphorylation	IMP	27723745
endocytosis	IMP	24549040
endocytosis	IBA
autophagy	IMP	24549040
autophagy	IBA

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

cellular catabolic process [inference]

autophagy

cellular metabolic process [inference]

cellular catabolic process [inference]

autophagy

cellular process [inference]

cell growth [inference]

developmental cell growth [inference]

neuron projection extension [inference]

axon extension

vesicle-mediated transport [inference]

endocytosis

cellular metabolic process [inference]

cellular catabolic process [inference]

autophagy

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport [inference]

late endosome to lysosome transport

process utilizing autophagic mechanism [inference]

autophagy

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

stress granule assembly

cellular component assembly [inference]

organelle assembly [inference]

non-membrane-bounded organelle assembly [inference]

stress granule assembly

growth [inference]

cell growth [inference]

developmental cell growth [inference]

neuron projection extension [inference]

axon extension

developmental growth [inference]

developmental cell growth [inference]

neuron projection extension [inference]

axon extension

developmental growth involved in morphogenesis [inference]

neuron projection extension [inference]

axon extension

localization [inference]

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

endocytosis

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport [inference]

late endosome to lysosome transport

import into cell [inference]

endocytosis

establishment of localization in cell [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport [inference]

late endosome to lysosome transport

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport [inference]

late endosome to lysosome transport

biological regulation [inference]

regulation of biological process [inference]

regulation of immune system process [inference]

negative regulation of immune system process [inference]

negative regulation of immune response

regulation of immune response [inference]

negative regulation of immune response

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of catabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of phosphorus metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

regulation of phosphate metabolic process [inference]

regulation of phosphorylation [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

regulation of nitrogen compound metabolic process [inference]

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

regulation of TORC1 signaling

regulation of localization [inference]

regulation of transport [inference]

regulation of secretion [inference]

negative regulation of secretion [inference]

negative regulation of secretion by cell [inference]

negative regulation of exocytosis

regulation of secretion by cell [inference]

regulation of exocytosis [inference]

negative regulation of exocytosis

negative regulation of secretion by cell [inference]

negative regulation of exocytosis

negative regulation of transport [inference]

negative regulation of secretion [inference]

negative regulation of secretion by cell [inference]

negative regulation of exocytosis

regulation of vesicle-mediated transport [inference]

regulation of exocytosis [inference]

negative regulation of exocytosis

regulation of synaptic vesicle cycle

regulation of cellular localization [inference]

regulation of protein localization

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of catabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

negative regulation of biological process [inference]

negative regulation of immune system process [inference]

negative regulation of immune response

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein modification process [inference]

negative regulation of protein phosphorylation

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of secretion by cell [inference]

negative regulation of exocytosis

negative regulation of response to stimulus [inference]

negative regulation of immune response

negative regulation of transport [inference]

negative regulation of secretion [inference]

negative regulation of secretion by cell [inference]

negative regulation of exocytosis

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

regulation of TORC1 signaling

negative regulation of response to stimulus [inference]

negative regulation of immune response

regulation of immune response [inference]

negative regulation of immune response

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

regulation of TORC1 signaling

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of macroautophagy [inference]

positive regulation of macroautophagy

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

regulation of phosphorus metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

regulation of phosphate metabolic process [inference]

regulation of phosphorylation [inference]

regulation of protein phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

regulation of actin filament-based process [inference]

regulation of actin cytoskeleton organization [inference]

regulation of actin filament organization

regulation of cellular component biogenesis [inference]

regulation of organelle assembly [inference]

regulation of autophagosome assembly

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular catabolic process [inference]

positive regulation of autophagy [inference]

positive regulation of macroautophagy

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of phosphorus metabolic process [inference]

negative regulation of phosphate metabolic process [inference]

negative regulation of phosphorylation [inference]

negative regulation of protein phosphorylation

negative regulation of secretion by cell [inference]

negative regulation of exocytosis

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

regulation of vacuole organization [inference]

regulation of autophagosome assembly

regulation of cytoskeleton organization [inference]

regulation of actin cytoskeleton organization [inference]

regulation of actin filament organization

regulation of organelle assembly [inference]

regulation of autophagosome assembly

regulation of supramolecular fiber organization [inference]

regulation of actin filament organization

regulation of cellular localization [inference]

regulation of protein localization

regulation of vesicle-mediated transport [inference]

regulation of exocytosis [inference]

negative regulation of exocytosis

regulation of synaptic vesicle cycle

regulation of secretion by cell [inference]

regulation of exocytosis [inference]

negative regulation of exocytosis

negative regulation of secretion by cell [inference]

negative regulation of exocytosis

Displaying entries **1 - 5** of 29 in total

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GO Term	Evidence Code	PMID
P-body	IDA	27037575
extracellular space	IDA	24549040
nucleus	IDA	24549040 26174152 27037575
cytoplasm	NAS	27617292
cytoplasm	IDA	27037575 27193190

GO Hierarchy

cellular component

protein-containing complex [inference]

intracellular protein-containing complex [inference]

guanyl-nucleotide exchange factor complex

catalytic complex [inference]

transferase complex [inference]

transferase complex, transferring phosphorus-containing groups [inference]

protein kinase complex [inference]

serine/threonine protein kinase complex [inference]

Atg1/ULK1 kinase complex

cellular anatomical entity [inference]

cytosolic region [inference]

presynaptic cytosol

membrane [inference]

organelle membrane [inference]

nuclear membrane

cell junction [inference]

synapse [inference]

glutamatergic synapse

neuron to neuron synapse [inference]

hippocampal mossy fiber to CA3 synapse

site of polarized growth [inference]

growth cone [inference]

axonal growth cone

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

dendrite

perikaryon

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

intracellular membrane-bounded organelle

nucleus

vacuole [inference]

lytic vacuole [inference]

lysosome

autophagosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle

nucleus

vacuole [inference]

lytic vacuole [inference]

lysosome

autophagosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

intracellular non-membrane-bounded organelle [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

supramolecular complex [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

Displaying **all 4** entries
GO Term	Evidence Code	PMID
guanyl-nucleotide exchange factor activity	IDA	27103069 27617292
GTPase activator activity	IMP	32303654
protein binding	IPI	21516116 24549040 25416956 27103069 27107012 27334615 27559131 28195531 29950492 32296183 32303654 33961781
small GTPase binding	IDA	24549040

GO Hierarchy

molecular function

binding [inference]

protein binding

enzyme binding [inference]

GTPase binding [inference]

small GTPase binding

molecular function regulator activity [inference]

enzyme regulator activity [inference]

enzyme activator activity [inference]

GTPase activator activity

nucleoside-triphosphatase regulator activity [inference]

GTPase regulator activity [inference]

molecular function activator activity [inference]

enzyme activator activity [inference]

GTPase activator activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

guanine nucleotide exchange C9orf72

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying 1 entry
InterPro
Guanine nucleotide exchange factor C9orf72

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0060213	frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Alliance of Genome Resources

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Last updated: December 8, 2025