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protein C9orf72 (C9orf72)
Compartment:
- cytoplasm. nucleus
- detected in the cytoplasm of neurons from post mortem brain tissue [2]
- detected in the nucleus in fibroblasts [3]
Alternative splicing:
- named isoforms=2
- encoded by 2 transcripts differing in the 5' non-coding region
Expression:
- both isoforms are widely expressed, including kidney, lung, liver, heart, testis & several brain regions
- in brain, expressed in cerebellum, frontal cortex
- expressed in lymphoblasts (at protein level)
Pathology:
- defects in the gene associated with:
- frontotemporal dementia
- amyotrophic lateral sclerosis
- GGGGCC hexanucleotide expansion within the first C9orf72 intron
- the expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 & to the formation of nuclear RNA foci
- production of large amounts of sense & anti-sense mRNA [4]
Pharmacology:
- repeated intrathecal antisense oligonucleotides that selectively blunt expression of G4C2 repeat-containing transcripts & effectively suppress CSF levels of poly(Gly-Pro) dipeptides [5]
Note: uncertain whether Met-1 or Met-7 is the initiator
Properties
GENERAL: uncharacterized protein
SIZE: entity length = 481 aa
MW = 54 kD
COMPARTMENT: cytoplasm
cell nucleus
FORM: protein C9orf72
Database Correlations
OMIM correlations
UniProt Q96LT7
Entrez Gene 203228
Kegg hsa:203228
References
- UniProt :accession Q96LT6
- PMID: 21944778
- PMID: 21944779
- Mizielinska S, Lashley T, Norona FE et al
C9orf72 frontotemporal lobar degeneration is characterised
by frequent neuronal sense and antisense RNA foci.
Acta Neuropathol. 2013 Oct 30. [Epub ahead of print]
PMID: 24170096
- Tran H, Moazami MP, Yang H et al
Suppression of mutant C9orf72 expression by a potent mixed backbone
antisense oligonucleotide.
Nature Medicine 2021. Dec 23
PMID: 34949835
https://www.nature.com/articles/s41591-021-01557-6