C9orf72

Identifiers

C9orf72, chromosome 9 open reading frame 72, ALSFTD, FTDALS, FTDALS1, DENNL72

External IDs

MGI: 1920455 HomoloGene: 10137 GeneCards: C9orf72

Gene ontology
Molecular function	• Rab GTPase binding • protein binding • Rab guanyl-nucleotide exchange factor activity • guanyl-nucleotide exchange factor activity
Cellular component	• autophagosome • extracellular region • endosome • lysosome • cytoplasmic vesicle • nucleus • extracellular space • guanyl-nucleotide exchange factor complex • cytoplasm • ATG1/ULK1 kinase complex
Biological process	• endocytosis • positive regulation of macroautophagy • positive regulation of GTPase activity • regulation of autophagy • regulation of TORC1 signaling • autophagy
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


203228


73205

Ensembl


ENSG00000147894


ENSMUSG00000028300

UniProt


Q96LT7


Q6DFW0

RefSeq (mRNA)


NM_145005 NM_001256054 NM_018325


NM_001081343

RefSeq (protein)


NP_001242983 NP_060795 NP_659442


NP_001074812

Location (UCSC)

Chr 9: 27.55 – 27.57 Mb

Chr 4: 35.19 – 35.23 Mb

PubMed search

NM_145005
NM_001256054
NM_018325

NM_001081343

NP_001242983
NP_060795
NP_659442

NP_001074812

C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene C9orf72.

The human C9orf72 gene is located on the short (p) arm of chromosome 9 open reading frame 72, from base pair 27,546,542 to base pair 27,573,863. Its cytogenetic location is at 9p21.2.

The protein is found in many regions of the brain, in the cytoplasm of neurons as well as in presynaptic terminals. Disease causing mutations in the gene were first discovered by two independent research teams, led by Rosa Rademakers of Mayo Clinic and Bryan Traynor of the National Institutes of Health, and were first reported in October 2011. The mutations in C9orf72 are significant because it is the first pathogenic mechanism identified to be a genetic link between familial frontotemporal dementia (FTD) and of amyotrophic lateral sclerosis (ALS). As of 2012, it is the most common mutation identified that is associated with familial FTD and/or ALS.

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