Anti-C9orf72 Antibody (CAB15970)

Antibody Name:	Anti-C9orf72 Antibody
Antibody SKU:	CAB15970
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-230 of human C9orf72 (NP_060795.1).

Application:	WB IHC IF
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:100 IF 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	Mouse kidney

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-230 of human C9orf72 (NP_060795.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	MSTL CPPP SPAV AKTE IALS GKSP LLAA TFAY WDNI LGPR VRHI WAPK TEQV LLSD GEIT FLAN HTLN GEIL RNAE SGAI DVKF FVLS EKGV IIVS LIFD GNWN GDRS TYGL SIIL PQTE LSFY LPLH RVCV DRLT HIIR KGRI WMHK ERQE NVQK IILE GTER MEDQ GQSI IPML TGEV IPVM ELLS SMKS HSVP EEID IADT VLND DDIG DSCH EGFL LNAI SSHL QT
Gene ID:	203228
Uniprot:	Q96LT7
Cellular Location:	Cytoplasm, Cytoplasmic vesicle, Endosome, Lysosome, Nucleus, Secreted, autophagosome
Calculated MW:	24kDa/54kDa
Observed MW:	54kDa

Synonyms:

C9orf72, ALSFTD, DENNL72, FTDALS, FTDALS1

Background:

The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms.

UniProt Protein Function:	Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity (PubMed:27617292). Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ATG1/ULK1 kinase complex to the phagophore which leads to autophagosome formation (PubMed:27334615). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131). Plays a role in endosomal trafficking (PubMed:24549040). May be involved in regulating the maturation of phagosomes to lysosomes. Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation (PubMed:27723745). This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to cofilin activation (PubMed:27723745). Positively regulates axon extension and axon growth cone size in spinal motor neurons (PubMed:27723745). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity.
NCBI Summary:	The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
UniProt Code:	Q96LT7
NCBI GenInfo Identifier:	71152412
NCBI Gene ID:	203228
NCBI Accession:	Q96LT7.2
UniProt Secondary Accession:	Q96LT7,Q6NUS9, A8K5W0, D3DRK6, G8I0B6,
UniProt Related Accession:	Q96LT7
Molecular Weight:	54 kDa
NCBI Full Name:	Guanine nucleotide exchange C9orf72
NCBI Synonym Full Names:	chromosome 9 open reading frame 72
NCBI Official Symbol:	C9orf72
NCBI Official Synonym Symbols:	ALSFTD; FTDALS; DENNL72; FTDALS1
NCBI Protein Information:	guanine nucleotide exchange C9orf72
UniProt Protein Name:	Guanine nucleotide exchange C9orf72
Protein Family:	Protein
UniProt Gene Name:	C9orf72

	Western blot analysis of extracts of mouse kidney, using C9orf72 antibody (CAB15970) at 1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
	Immunohistochemistry of paraffin-embedded rat kidney using C9orf72 Rabbit pAb (CAB15970) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded human esophageal cancer using C9orf72 Rabbit pAb (CAB15970) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded mouse kidney using C9orf72 Rabbit pAb (CAB15970) at dilution of 1:100 (40x lens).

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)