InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: C9orf72

Summary

InnateDB Protein

IDBP-55468.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

C9orf72

Protein Name

chromosome 9 open reading frame 72

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000369331

InnateDB Gene

IDBG-55462 (C9orf72)

Protein Structure

UniProt Annotation

Function

May play a role in endosomal trafficking and autophagy. {ECO:0000269PubMed:24549040}.

Subcellular Localization

Nucleus. Cytoplasm. Endosome. Lysosome. Cytoplasmic vesicle, autophagosome. Secreted. Note=Detected in the cytoplasm of neurons from post mortem brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). {ECO:0000269PubMed:21944778, ECO:0000269PubMed:21944779}.

Disease Associations

Frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) [MIM:105550]: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. {ECO:0000269PubMed:21944778, ECO:0000269PubMed:21944779, ECO:0000269PubMed:22936364}. Note=The disease is caused by mutations affecting the gene represented in this entry. In the first intron of the gene, the expansion of a GGGGCC hexanucleotide that can vary from 10 to thousands of repeats, represents the most common genetic cause of both familial and sporadic FTDALS. The hexanucleotide repeat expansion (HRE) is structurally polymorphic and during transcription, is responsible for the formation of RNA and DNA G- quadruplexes resulting in the production of aborted transcripts at the expense of functional transcripts. The accumulation of those aborted transcripts may cause nucleolar stress and indirectly cell death (PubMed:24598541). {ECO:0000269PubMed:24598541}.

Tissue Specificity

Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level). {ECO:0000269PubMed:21944778, ECO:0000269PubMed:21944779}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.