C9orf72 C9orf72, member of C9orf72-SMCR8 complex [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C9orf72provided by MGI
Official Full Name: C9orf72, member of C9orf72-SMCR8 complexprovided by MGI
Primary source: MGI:MGI:1920455
See related: Ensembl:ENSMUSG00000028300 AllianceGenome:MGI:1920455
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dennd9; 3110043O21Rik
Summary: Enables small GTPase binding activity. Involved in several processes, including axon extension; late endosome to lysosome transport; and negative regulation of GTP binding activity. Located in several cellular components, including extracellular space; neuron projection; and perikaryon. Is expressed in several structures, including adipose tissue; alimentary system; nervous system; reproductive system; and sensory organ. Used to study autoimmune disease. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis-1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in subcutaneous fat pad adult (RPKM 12.1), CNS E18 (RPKM 11.9) and 26 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 4; 4 A5

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (35191285..35226153, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (35191285..35226153, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C9orf72 functions in the nucleus to regulate DNA damage repair.
Title: C9orf72 functions in the nucleus to regulate DNA damage repair.
Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice.
Title: Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice.
Enhanced motor cortex output and disinhibition in asymptomatic female mice with C9orf72 genetic expansion.
Title: Enhanced motor cortex output and disinhibition in asymptomatic female mice with C9orf72 genetic expansion.
Loss of C9orf72 in Microglia Drives Neuronal Injury by Enhancing Synaptic Pruning in Aged and Alzheimer's Disease Mice.
Title: Loss of C9orf72 in Microglia Drives Neuronal Injury by Enhancing Synaptic Pruning in Aged and Alzheimer's Disease Mice.
C9orf72 knockdown alleviates hepatic insulin resistance by promoting lipophagy.
Title: C9orf72 knockdown alleviates hepatic insulin resistance by promoting lipophagy.
C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
Title: C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
Expression of C9orf72 hexanucleotide repeat expansion leads to formation of RNA foci and dipeptide repeat proteins but does not influence autophagy or proteasomal function in neuronal cells.
Title: Expression of C9orf72 hexanucleotide repeat expansion leads to formation of RNA foci and dipeptide repeat proteins but does not influence autophagy or proteasomal function in neuronal cells.
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
Title: p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.
Title: C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.
C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis.
Title: C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (7) 1 citation
Endonuclease-mediated (7) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Homology

Homologs of the C9orf72 gene: The C9orf72 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 491 organisms have orthologs with human gene C9orf72
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in autophagy	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in autophagy	ISO Inferred from Sequence Orthology more info
involved_in axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon extension	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in endocytosis	ISO Inferred from Sequence Orthology more info
involved_in late endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of GTP binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of exocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macroautophagy	ISO Inferred from Sequence Orthology more info
involved_in regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin filament organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in regulation of autophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stress granule assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Atg1/ULK1 kinase complex	ISO Inferred from Sequence Orthology more info
located_in Flemming body	ISO Inferred from Sequence Orthology more info
located_in P-body	ISO Inferred from Sequence Orthology more info
is_active_in autophagosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in autophagosome	ISO Inferred from Sequence Orthology more info
located_in axonal growth cone	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasmic stress granule	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
part_of guanyl-nucleotide exchange factor complex	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in main axon	ISO Inferred from Sequence Orthology more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: guanine nucleotide exchange factor C9orf72 homolog; guanine nucleotide exchange C9orf72 homolog

Names: protein C9orf72 homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001081343.2 → NP_001074812.1 guanine nucleotide exchange factor C9orf72 homolog isoform 1

See identical proteins and their annotated locations for NP_001074812.1

Status: VALIDATED

Source sequence(s)

AL831776

Consensus CDS

CCDS38708.1

UniProtKB/Swiss-Prot

Q3U3D8, Q6DFW0

UniProtKB/TrEMBL

A0A8C6I6B0

Related

ENSMUSP00000103762.4, ENSMUST00000108127.4

Conserved Domains (1) summary

pfam15019
Location:61 → 324

C9orf72-like; C9orf72-like protein family
NM_028466.2 → NP_082742.2 guanine nucleotide exchange factor C9orf72 homolog isoform 2

Status: VALIDATED

Source sequence(s)

AK014175, AL831776, BQ177018

Consensus CDS

CCDS89726.1

UniProtKB/TrEMBL

A2ANZ2

Related

ENSMUSP00000103761.2, ENSMUST00000108126.8

Conserved Domains (1) summary

pfam15019
Location:9 → 160

C9orf72-like; C9orf72-like protein family