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Protein Page:
C9orf72 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
C9orf72 Defects in C9orf72 are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS). 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. Caused by a large expansion of a GGGGCC hexanucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 9p21.2
Cellular Component: extracellular space; lysosome; autophagic vacuole; cytoplasmic vesicle; nucleus; endosome
Molecular Function: protein binding; Rab GTPase binding
Biological Process: cell death; autophagy; endocytosis
Reference #:  Q96LT7 (UniProtKB)
Alt. Names/Synonyms: C9orf72; chromosome 9 open reading frame 72; CI072; hypothetical protein LOC203228; MGC23980; RP11-27J8.2; Uncharacterized protein C9orf72
Gene Symbols: C9orf72
Molecular weight: 54,328 Da
Basal Isoelectric point: 5.82  Predict pI for various phosphorylation states
Select Structure to View Below

C9orf72

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 2 S9-p STLCPPPsPAVAKTE
0 1 K388-ub LDQVFQLkPGLSLRS
0 1 T440-p LKIDLDLtAEGDLNI
  mouse

 
S9-p STICPPPsPAVAKTE
K388 LDQVFHLKPGLSLRS
- gap
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