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C9orf72 cDNA ORF clone, Homo sapiens (human)

Gene Symbol C9orf72
Entrez Gene ID 203228
Full Name chromosome 9 open reading frame 72
Synonyms ALSFTD, FTDALS, FTDALS1
General protein information
Preferred Names
protein C9orf72
Names
protein C9orf72
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9p21.2

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 hexanucleotide repeat in non-coding 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, Feb 2015]. lac of sum
Disorder MIM:

614260


mRNA and Protein(s)

mRNA Protein Name
NM_001256054 NP_001242983 protein C9orf72 isoform a
NM_018325 NP_060795 protein C9orf72 isoform a
NM_145005 NP_659442 protein C9orf72 isoform b


Homo sapiens (human) C9orf72 NP_001242983.1
Pan troglodytes (chimpanzee) C9H9orf72 XP_003951454.1
Macaca mulatta (Rhesus monkey) C15H9orf72 XP_002800118.1
Canis lupus familiaris (dog) C11H9orf72 XP_005626755.1
Bos taurus (cattle) C8H9orf72 NP_001096558.1
Mus musculus (house mouse) 3110043O21Rik NP_001074812.1
Rattus norvegicus (Norway rat) RGD1359108 NP_001007703.1
Gallus gallus (chicken) C9ORF72 XP_424945.2
Danio rerio (zebrafish) zgc:100846 NP_991166.1

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following C9orf72 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the C9orf72 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu23067
NM_001256054 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$159.50-$223.30
$319.00
OHu23067
NM_018325 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$159.50-$223.30
$319.00
OHu22712
NM_145005 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$99.50-$139.30
$199.00
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu23067
Clone ID Related Accession (Same CDS sequence) NM_001256054 , NM_018325
Accession Version NM_001256054.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1446bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 11-JUL-2015
Organism Homo sapiens (human)
Product protein C9orf72 isoform a
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BQ068108.1, JN681271.1 and AL832229.1. On Feb 7, 2015 this sequence version replaced gi:365906243. Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a). Hexanucleotide expansions that can occur in a repeat region between the first and second exon of this variant have been associated with frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS;PMID: 21944778, PMID: 21944779 ). Variants 2 and 3 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: JN681271.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAATGCCA TCAGCTCACA CTTGCAAACC TGTGGCTGTT CCGTTGTAGT AGGTAGCAGT
GCAGAGAAAG TAAATAAGAT AGTCAGAACA TTATGCCTTT TTCTGACTCC AGCAGAGAGA
AAATGCTCCA GGTTATGTGA AGCAGAATCA TCATTTAAAT ATGAGTCAGG GCTCTTTGTA
CAAGGCCTGC TAAAGGATTC AACTGGAAGC TTTGTGCTGC CTTTCCGGCA AGTCATGTAT
GCTCCATATC CCACCACACA CATAGATGTG GATGTCAATA CTGTGAAGCA GATGCCACCC
TGTCATGAAC ATATTTATAA TCAGCGTAGA TACATGAGAT CCGAGCTGAC AGCCTTCTGG
AGAGCCACTT CAGAAGAAGA CATGGCTCAG GATACGATCA TCTACACTGA CGAAAGCTTT
ACTCCTGATT TGAATATTTT TCAAGATGTC TTACACAGAG ACACTCTAGT GAAAGCCTTC
CTGGATCAGG TCTTTCAGCT GAAACCTGGC TTATCTCTCA GAAGTACTTT CCTTGCACAG
TTTCTACTTG TCCTTCACAG AAAAGCCTTG ACACTAATAA AATATATAGA AGACGATACG
CAGAAGGGAA AAAAGCCCTT TAAATCTCTT CGGAACCTGA AGATAGACCT TGATTTAACA
GCAGAGGGCG ATCTTAACAT AATAATGGCT CTGGCTGAGA AAATTAAACC AGGCCTACAC
TCTTTTATCT TTGGAAGACC TTTCTACACT AGTGTGCAAG AACGAGATGT TCTAATGACT
TTTTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001242983.1
CDS203..1648
Misc Feature(1)179..181(+)
Misc Feature(2)380..1177(+)
Exon (1)1..158
Gene:C9orf72
Gene Synonym:
Exon (2)159..646
Gene:C9orf72
Gene Synonym:
Exon (3)647..706
Gene:C9orf72
Gene Synonym:
Exon (4)707..802
Gene:C9orf72
Gene Synonym:
Exon (5)803..867
Gene:C9orf72
Gene Synonym:
Exon (6)868..940
Gene:C9orf72
Gene Synonym:
Exon (7)941..1057
Gene:C9orf72
Gene Synonym:
Exon (8)1058..1293
Gene:C9orf72
Gene Synonym:
Exon (9)1294..1351
Gene:C9orf72
Gene Synonym:
Exon (10)1352..1461
Gene:C9orf72
Gene Synonym:
Exon (11)1462..3338
Gene:C9orf72
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001256054
Organism Homo sapiens (human)
Definition Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001256054

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAATGCCA TCAGCTCACA CTTGCAAACC TGTGGCTGTT CCGTTGTAGT AGGTAGCAGT
GCAGAGAAAG TAAATAAGAT AGTCAGAACA TTATGCCTTT TTCTGACTCC AGCAGAGAGA
AAATGCTCCA GGTTATGTGA AGCAGAATCA TCATTTAAAT ATGAGTCAGG GCTCTTTGTA
CAAGGCCTGC TAAAGGATTC AACTGGAAGC TTTGTGCTGC CTTTCCGGCA AGTCATGTAT
GCTCCATATC CCACCACACA CATAGATGTG GATGTCAATA CTGTGAAGCA GATGCCACCC
TGTCATGAAC ATATTTATAA TCAGCGTAGA TACATGAGAT CCGAGCTGAC AGCCTTCTGG
AGAGCCACTT CAGAAGAAGA CATGGCTCAG GATACGATCA TCTACACTGA CGAAAGCTTT
ACTCCTGATT TGAATATTTT TCAAGATGTC TTACACAGAG ACACTCTAGT GAAAGCCTTC
CTGGATCAGG TCTTTCAGCT GAAACCTGGC TTATCTCTCA GAAGTACTTT CCTTGCACAG
TTTCTACTTG TCCTTCACAG AAAAGCCTTG ACACTAATAA AATATATAGA AGACGATACG
CAGAAGGGAA AAAAGCCCTT TAAATCTCTT CGGAACCTGA AGATAGACCT TGATTTAACA
GCAGAGGGCG ATCTTAACAT AATAATGGCT CTGGCTGAGA AAATTAAACC AGGCCTACAC
TCTTTTATCT TTGGAAGACC TTTCTACACT AGTGTGCAAG AACGAGATGT TCTAATGACT
TTTTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu23067
Clone ID Related Accession (Same CDS sequence) NM_001256054 , NM_018325
Accession Version NM_018325.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1446bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 11-JUL-2015
Organism Homo sapiens (human)
Product protein C9orf72 isoform a
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG718065.1, AK291425.1, BC068445.1, BC020851.2, BC039112.1, BQ777139.1 and AL832229.1. On Feb 7, 2015 this sequence version replaced gi:365906242. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Both variants 2 and 3 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL832229.1, BC068445.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAATGCCA TCAGCTCACA CTTGCAAACC TGTGGCTGTT CCGTTGTAGT AGGTAGCAGT
GCAGAGAAAG TAAATAAGAT AGTCAGAACA TTATGCCTTT TTCTGACTCC AGCAGAGAGA
AAATGCTCCA GGTTATGTGA AGCAGAATCA TCATTTAAAT ATGAGTCAGG GCTCTTTGTA
CAAGGCCTGC TAAAGGATTC AACTGGAAGC TTTGTGCTGC CTTTCCGGCA AGTCATGTAT
GCTCCATATC CCACCACACA CATAGATGTG GATGTCAATA CTGTGAAGCA GATGCCACCC
TGTCATGAAC ATATTTATAA TCAGCGTAGA TACATGAGAT CCGAGCTGAC AGCCTTCTGG
AGAGCCACTT CAGAAGAAGA CATGGCTCAG GATACGATCA TCTACACTGA CGAAAGCTTT
ACTCCTGATT TGAATATTTT TCAAGATGTC TTACACAGAG ACACTCTAGT GAAAGCCTTC
CTGGATCAGG TCTTTCAGCT GAAACCTGGC TTATCTCTCA GAAGTACTTT CCTTGCACAG
TTTCTACTTG TCCTTCACAG AAAAGCCTTG ACACTAATAA AATATATAGA AGACGATACG
CAGAAGGGAA AAAAGCCCTT TAAATCTCTT CGGAACCTGA AGATAGACCT TGATTTAACA
GCAGAGGGCG ATCTTAACAT AATAATGGCT CTGGCTGAGA AAATTAAACC AGGCCTACAC
TCTTTTATCT TTGGAAGACC TTTCTACACT AGTGTGCAAG AACGAGATGT TCTAATGACT
TTTTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_060795.1
CDS108..1553
Misc Feature(1)84..86(+)
Misc Feature(2)285..1082(+)
Exon (1)1..63
Gene:C9orf72
Gene Synonym:
Exon (2)64..551
Gene:C9orf72
Gene Synonym:
Exon (3)552..611
Gene:C9orf72
Gene Synonym:
Exon (4)612..707
Gene:C9orf72
Gene Synonym:
Exon (5)708..772
Gene:C9orf72
Gene Synonym:
Exon (6)773..845
Gene:C9orf72
Gene Synonym:
Exon (7)846..962
Gene:C9orf72
Gene Synonym:
Exon (8)963..1198
Gene:C9orf72
Gene Synonym:
Exon (9)1199..1256
Gene:C9orf72
Gene Synonym:
Exon (10)1257..1366
Gene:C9orf72
Gene Synonym:
Exon (11)1367..3243
Gene:C9orf72
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_018325
Organism Homo sapiens (human)
Definition Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_018325

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAATGCCA TCAGCTCACA CTTGCAAACC TGTGGCTGTT CCGTTGTAGT AGGTAGCAGT
GCAGAGAAAG TAAATAAGAT AGTCAGAACA TTATGCCTTT TTCTGACTCC AGCAGAGAGA
AAATGCTCCA GGTTATGTGA AGCAGAATCA TCATTTAAAT ATGAGTCAGG GCTCTTTGTA
CAAGGCCTGC TAAAGGATTC AACTGGAAGC TTTGTGCTGC CTTTCCGGCA AGTCATGTAT
GCTCCATATC CCACCACACA CATAGATGTG GATGTCAATA CTGTGAAGCA GATGCCACCC
TGTCATGAAC ATATTTATAA TCAGCGTAGA TACATGAGAT CCGAGCTGAC AGCCTTCTGG
AGAGCCACTT CAGAAGAAGA CATGGCTCAG GATACGATCA TCTACACTGA CGAAAGCTTT
ACTCCTGATT TGAATATTTT TCAAGATGTC TTACACAGAG ACACTCTAGT GAAAGCCTTC
CTGGATCAGG TCTTTCAGCT GAAACCTGGC TTATCTCTCA GAAGTACTTT CCTTGCACAG
TTTCTACTTG TCCTTCACAG AAAAGCCTTG ACACTAATAA AATATATAGA AGACGATACG
CAGAAGGGAA AAAAGCCCTT TAAATCTCTT CGGAACCTGA AGATAGACCT TGATTTAACA
GCAGAGGGCG ATCTTAACAT AATAATGGCT CTGGCTGAGA AAATTAAACC AGGCCTACAC
TCTTTTATCT TTGGAAGACC TTTCTACACT AGTGTGCAAG AACGAGATGT TCTAATGACT
TTTTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu22712
Clone ID Related Accession (Same CDS sequence) NM_145005
Accession Version NM_145005.6 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 669bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 11-JUL-2015
Organism Homo sapiens (human)
Product protein C9orf72 isoform b
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BQ068108.1, AK057806.1, BC020851.2, DA802421.1 and AI141996.1. On Feb 7, 2015 this sequence version replaced gi:365906241. Transcript Variant: This variant (1) lacks multiple exons in the central and 3' coding regions, and its 3' terminal exon extends beyond a splice site that is used in variant 3 . This results in a novel 3' UTR, compared to variant 3. It encodes isoform b which is significantly shorter, and its C-terminal amino acid is distinct, compared to isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK057806.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAAGTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_659442.2
CDS125..793
Misc Feature(1)101..103(+)
Misc Feature(2)302..>745(+)
Exon (1)1..80
Gene:C9orf72
Gene Synonym:
Exon (2)81..568
Gene:C9orf72
Gene Synonym:
Exon (3)569..628
Gene:C9orf72
Gene Synonym:
Exon (4)629..724
Gene:C9orf72
Gene Synonym:
Exon (5)725..1950
Gene:C9orf72
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_145005
Organism Homo sapiens (human)
Definition Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_145005

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
ATGTCGACTC TTTGCCCACC GCCATCTCCA GCTGTTGCCA AGACAGAGAT TGCTTTAAGT 
GGCAAATCAC CTTTATTAGC AGCTACTTTT GCTTACTGGG ACAATATTCT TGGTCCTAGA
GTAAGGCACA TTTGGGCTCC AAAGACAGAA CAGGTACTTC TCAGTGATGG AGAAATAACT
TTTCTTGCCA ACCACACTCT AAATGGAGAA ATCCTTCGAA ATGCAGAGAG TGGTGCTATA
GATGTAAAGT TTTTTGTCTT GTCTGAAAAG GGAGTGATTA TTGTTTCATT AATCTTTGAT
GGAAACTGGA ATGGGGATCG CAGCACATAT GGACTATCAA TTATACTTCC ACAGACAGAA
CTTAGTTTCT ACCTCCCACT TCATAGAGTG TGTGTTGATA GATTAACACA TATAATCCGG
AAAGGAAGAA TATGGATGCA TAAGGAAAGA CAAGAAAATG TCCAGAAGAT TATCTTAGAA
GGCACAGAGA GAATGGAAGA TCAGGGTCAG AGTATTATTC CAATGCTTAC TGGAGAAGTG
ATTCCTGTAA TGGAACTGCT TTCATCTATG AAATCACACA GTGTTCCTGA AGAAATAGAT
ATAGCTGATA CAGTACTCAA TGATGATGAT ATTGGTGACA GCTGTCATGA AGGCTTTCTT
CTCAAGTAA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
Lancet Neurol 14 (3), 291-301 (2015)
Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN and Warren JD.


book

Emerging role of RNA*DNA hybrids in C9orf72-linked neurodegeneration
Cell Cycle 14 (4), 526-532 (2015)
Wang J, Haeusler AR and Simko EA.


book

A proteome-scale map of the human interactome network
Cell 159 (5), 1212-1226 (2014)
Rolland T, Tasan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, Yi S, Lemmens I, Fontanillo C, Mosca R, Kamburov A, Ghiassian SD, Yang X, Ghamsari L, Balcha D, Begg BE, Braun P, Brehme M, Broly MP, Carvunis AR, Convery-Zupan D, Corominas R, Coulombe-Huntington J, Dann E, Dreze M, Dricot A, Fan C, Franzosa E, Gebreab F, Gutierrez BJ, Hardy MF, Jin M, Kang S, Kiros R, Lin GN, Luck K, MacWilliams A, Menche J, Murray RR, Palagi A, Poulin MM, Rambout X, Rasla J, Reichert P, Romero V, Ruyssinck E, Sahalie JM, Scholz A, Shah AA, Sharma A, Shen Y, Spirohn K, Tam S, Tejeda AO, Trigg SA, Twizere JC, Vega K, Walsh J, Cusick ME, Xia Y, Barabasi AL, Iakoucheva LM, Aloy P, De Las Rivas J, Tavernier J, Calderwood MA, Hill DE, Hao T, Roth FP and Vidal M.


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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
Science 339 (6125), 1335-1338 (2013)
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C and Edbauer D.


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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
Neuron 72 (2), 257-268 (2011)
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ and Traynor BJ.


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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
Neuron 72 (2), 245-256 (2011)
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR and Rademakers R.


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No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis
Neurosci. Lett. 340 (3), 245-247 (2003)
Ostojic J, Axelman K, Lannfelt L and Froelich-Fabre S.


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Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
JAMA 284 (13), 1664-1669 (2000)
Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, Hung WY, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR and Brown RH Jr.


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C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
(in) Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Cruts,M., Engelborghs,S., van der Zee,J. and Van Broeckhoven,C.


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Amyotrophic Lateral Sclerosis Overview
(in) Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Kinsley,L. and Siddique,T.


 
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