Recombinant Human Uncharacterized protein C9orf72(C9orf72)

Code CSB-YP842710HU
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Source Yeast
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Code CSB-EP842710HU
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Source E.coli
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Code CSB-EP842710HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP842710HU
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Source Baculovirus
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Code CSB-MP842710HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names C9orf72
Uniprot No. Q96LT7
Alternative Names ALSFTD; C9orf72; chromosome 9 open reading frame 72; CI072_HUMAN; FTDALS; MGC23980; Protein C9orf72; RP11-27J8.2; Uncharacterized protein C9orf72
Species Homo sapiens (Human)
Expression Region 1-481
Target Protein Sequence MSTLCPPPSP AVAKTEIALS GKSPLLAATF AYWDNILGPR VRHIWAPKTE QVLLSDGEIT FLANHTLNGE ILRNAESGAI DVKFFVLSEK GVIIVSLIFD GNWNGDRSTY GLSIILPQTE LSFYLPLHRV CVDRLTHIIR KGRIWMHKER QENVQKIILE GTERMEDQGQ SIIPMLTGEV IPVMELLSSM KSHSVPEEID IADTVLNDDD IGDSCHEGFL LNAISSHLQT CGCSVVVGSS AEKVNKIVRT LCLFLTPAER KCSRLCEAES SFKYESGLFV QGLLKDSTGS FVLPFRQVMY APYPTTHIDV DVNTVKQMPP CHEHIYNQRR YMRSELTAFW RATSEEDMAQ DTIIYTDESF TPDLNIFQDV LHRDTLVKAF LDQVFQLKPG LSLRSTFLAQ FLLVLHRKAL TLIKYIEDDT QKGKKPFKSL RNLKIDLDLT AEGDLNIIMA LAEKIKPGLH SFIFGRPFYT SVQERDVLMT F
Protein Length full length protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Background

Function
(From Uniprot)
Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy
Gene References into Functions
  1. Review: Drosophila has been widely used to model G4C2 repeat RNA and dipeptide repeat protein toxicity. Overexpression of disease molecules in flies has revealed important molecular insights. These have been validated and further explored in human neurons differentiated from induced pluripotent stem cells (iPSCs), a disease-relevant model in which expanded G4C2 repeats are expressed in their native molecular context. PMID: 29729808
  2. Amyotrophic lateral sclerosis patients with C9ORF72 repeat expansions accumulate symmetric arginine demethylated proteins which co-localize with p62. PMID: 30022074
  3. This study demonstrated that C9orf72 RE is not genetically associated to MS spectrum. PMID: 30099204
  4. Results found that in sodium or potassium salt solutions, single-stranded d(C2G4)n within C9orf72 gene fold to form G-quadruplexes. Especially under slightly acidic conditions, d(C2G4)n oligonucleotides fold to form a distinctive higher order structure whose most striking feature is an "inverted" circular dichroism spectrum, which is distinguishable from the spectrum of the left handed DNA double-helix, Z-DNA. PMID: 29912891
  5. repeat RNA-sequestration of SRSF1 triggers the NXF1-dependent nuclear export of C9ORF72 transcripts retaining expanded hexanucleotide repeats PMID: 28677678
  6. Review discussing the discovery of an intronic (G4C2)*(G2C4) expansion causing the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery linked ALS with a clinically distinct form of dementia and a larger group of microsatellite repeat diseases, and catalyzed basic and translational research. PMID: 29703376
  7. G4C2 hexanucleotide repeat expansions in the C9orf72 gene seem to be the cause of numerous cases of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD). PMID: 29449030
  8. C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews. PMID: 29352617
  9. C9orf72 disease is clinically heterogeneous and without evident imaging markers PMID: 29441485
  10. that the overall frequency of C9orf72-positive cases in Greek FTD is high, comparable to Greek ALS, similar to some Western European, but significantly higher than some Mediterranean FTD populations PMID: 29166782
  11. The C9orf72 repeat expansion linked to aggressive disease in male patients with spinal-onset ALS. PMID: 27739539
  12. The genetic mutations of C9ORF72 caused amyotrophic lateral sclerosis. PMID: 29478603
  13. Findings provide evidence that C9orf72 poly GA is a key mediator of cytotoxicity and that cross-talk between DPR proteins likely modifies their pathogenic status in C9ALS/FTD. PMID: 28973350
  14. DNA methylation analysis of C9orf72 patients revealed that increased DNAm age-acceleration is associated with a more severe disease phenotype with a shorter disease duration and earlier age of onset. PMID: 28439722
  15. This study demonstrated that poly-GA triggers behavioral deficits through inflammation and protein sequestration that likely contribute to the prodromal symptoms and disease progression of C9orf72 patients. PMID: 28409281
  16. A pathological repeat expansion in the C9orf72 gene (50 repeats) was found in a patient with mild diffuse brain atrophy and type 2 progressive apraxia of speech. This is the first described association of this gene with type 2 progressive speech apraxia. PMID: 27166164
  17. The association of the C9orf72 repeat expansion with ALS and frontotemporal degeneration. PMID: 27713094
  18. in common neurological diseases, intermediate C9orf72 repeats do not influence disease risk but may associate with higher frequency of neuropsychiatric symptoms PMID: 28689190
  19. Mutations in the footprinted region of Nup54 polymers blocked both polymerization and binding by the toxic proline:arginine poly-dipeptide suggesting that toxicity of the C9orf72 PRn poly-dipeptide results in part from its ability to lock the FG repeats of nuclear pore proteins in the polymerized state. PMID: 28069952
  20. DPR-mediated dysfunction of U2 snRNP could account for as much as approximately 44% of the mis-spliced cassette exons in C9ORF72 patient brains. PMID: 28614712
  21. C9ORF72 repeat expansion leads to the upregulation of GluA1 in motor neurons, that could lead to a potential pathogenic excitotoxic mechanism in amyotrophic lateral sclerosis patients. PMID: 29367641
  22. This study demonstrated that in ALS with cognition disorder has C9orf72 mutation. PMID: 28444446
  23. von Economo neuron density was reduced in sporadic behavioral variant frontotemporal dementia (bvFTD) cases only. Thalamus degeneration was identified only in bvFTD cases with the C9ORF72 repeat expansion, and to a similar extent in cases with and without psychosis. No significant difference in von Economo neuron density or thalamus degeneration was seen between bvFTD cases with or without the C9ORF72 repeat expansion. PMID: 28482638
  24. The result of this study concluded that behavioral variant frontotemporal dementia patients carrying the C9ORF72 expansion may display more pronounced executive deficits together with less severe verbal memory impairment as compared to their non-carrier behavioral variant frontotemporal dementia counterparts. PMID: 28453474
  25. The C9orf72 hexanucleotide repeat was only found in humans, chimpanzees and gorillas, species with higher opposability indices PMID: 28010125
  26. the presence of an HREM was found to be coupled to a lower age of onset and a shorter disease survival in amyotrophic lateral sclerosis PMID: 27936955
  27. toxic poly-dipeptides translated from C9orf72 may account for hereditary cases of amyotrophic lateral sclerosis and frontotemporal dementia PMID: 29045370
  28. For DNA, the data are consistent with TMPyP4 stacking on the terminal tetrads and intercalation. For RNA, the thermodynamics of the two binding modes are consistent with groove binding and intercalation. PMID: 29274339
  29. Demyelinating lesions might facilitate expressivity of C9orf72 expansion, through NF-kappaB activation. This plausible association may lead to the identification of a therapeutic target in this subgroup of C9orf72-amyotrophic lateral sclerosis patients. PMID: 29055436
  30. These findings suggest that the presence of a C9orf72 mutation does not influence the tau signature of ALS or ALSci. PMID: 28562075
  31. We created Smcr8 knockout mice and found that Smcr8 mutant cells exhibit impaired autophagy induction, which is similarly observed in C9orf72 knockdown cells. Mechanistically, SMCR8/C9ORF72 interacts with the key autophagy initiation ULK1 complex and regulates expression and activity of ULK1 PMID: 27617292
  32. Our study did not find any pathological C9ORF72 repeat expansions in two large groups of patients with disease and multiple system atrophy, suggesting that C9ORF72 expansions do not play a major role in the susceptibility to the wider spectrum of Parkinsonism. However, study identified a statistically significant association between number of repeats and age at onset in Parkinson's disease patients. PMID: 27473499
  33. Pathogenesis may occur either due to loss of function of the C9orf72 gene, or a toxic gain of function, via the production of repetitive sense and antisense RNA and/or repetitive dipeptide repeat proteins. Recently, mouse knockouts have suggested that a loss of function of C9orf72 alone is insufficient to lead to neurodegeneration, whilst overexpression of hexanucleotide DNA is sufficient in a wide range of model systems PMID: 28364657
  34. We review what has been published regarding C9orf72 repeat size as modifier for phenotypic characteristics. Conclusive evidence is lacking, partly due to the difficulties in accurately defining the exact repeat size and the presence of repeat variability due to somatic mosaicism PMID: 28319737
  35. C9orf72 patients had enhanced visual network functional connectivity versus sporadic-motor and sporadic-early cases PMID: 28666709
  36. C9orf72 and ATXN2 repeat expansions cause ataxia, dementia, and parkinsonism in a Guyana family. PMID: 28124431
  37. These findings indicate that tracking poly(GP) proteins in Cerebrospinal fluid could provide a means to assess target engagement of G4C2 repeat expansion RNA-based therapies in symptomatic C9ORF72 repeat expansion carriers. PMID: 28356511
  38. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. PMID: 29182198
  39. This study is an extensive characterization of induced pluripotent stem cells-derived motor neurons as cellular models of amyotrophic lateral sclerosis carrying C9orf72 hexanucleotide repeats. PMID: 27097283
  40. this implies that the difference between C9 hESCs and iPSCs may be crucial for investigating the neural phenotype of the C9/ALS-FTD disease, given that mutant hESCs are likely to present a more accurate and more severe phenotype than comparable iPSCs. PMID: 27773700
  41. The low penetrance of C9orf72 mutations, its contribution to sporadic cases, and its combination with other genes support an oligogenic model where two or more genes contribute to disease risk, onset, progression and phenotype: from 'pure' Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)to combined ALS/FTD PMID: 28087719
  42. Together, these data implicate C9ORF72 GGGGCC expansion-mediated sequestration of hnRNP H as a significant contributor to neurodegeneration in C9 amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. PMID: 27623008
  43. The chromosome 9 open reading frame 72 (c9orf72) gene contains a hexanucleotide (GGGGCC) repeat expansion responsible for many cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). PMID: 28132891
  44. Psychotic symptoms in frontotemporal dementia with the C9orf72 gene expansion. PMID: 28116236
  45. Intronic repeat expansions in C9orf72 not observed in Iranian Parkinson's disease patients. PMID: 28365006
  46. Its mutation is a genetic cause of amyotrophic lateral sclerosis. PMID: 28222900
  47. Diffuse atrophy is a common underlying feature of disease associated with C9orf72 mutations. PMID: 27995069
  48. Its repeat expansion is a cause of amyotrophic lateral sclerosis in New Zealand. PMID: 27480424
  49. C9orf72 repeat expansions are not causally associated with dementia with lewy body. PMID: 27666590
  50. Repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene have been recognized as a major contributor to amyotrophic lateral sclerosis. PMID: 28527524

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Involvement in disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1)
Subcellular Location Nucleus, Cytoplasm, Cytoplasm, P-body, Cytoplasm, Stress granule, Endosome, Lysosome, Cytoplasmic vesicle, autophagosome, Secreted, Cell projection, axon, Cell projection, growth cone, Perikaryon, Note=Detected in the cytoplasm of neurons from brain tissue (PubMed:21944778), Detected in the nucleus in fibroblasts (PubMed:21944779), During corticogenesis, transitions from being predominantly cytoplasmic to a more even nucleocytoplasmic distribution (By similarity), SUBCELLULAR LOCATION: Isoform 1: Perikaryon, Cell projection, dendrite, Note=Expressed diffusely throughout the cytoplasm and dendritic processes of cerebellar Purkinje cells, Also expressed diffusely throughout the cytoplasm of spinal motor neurons, SUBCELLULAR LOCATION: Isoform 2: Nucleus membrane, Peripheral membrane protein, Nucleus
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).
Database Links

HGNC: 28337

OMIM: 105550

KEGG: hsa:203228

STRING: 9606.ENSP00000369339

UniGene: Hs.493639

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