GBE1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	GBE1
Entrez Gene ID	2632
Full Name	1,4-alpha-glucan branching enzyme 1
Synonyms	APBD,GBE,GSD4
General protein information	Preferred Names 1,4-alpha-glucan branching enzyme 1 Names 1,4-alpha-glucan-branching enzyme amylo-(1,4 to 1,6) transglucosidase amylo-(1,4 to 1,6) transglycosylase brancher enzyme glucan (1,4-alpha-), branching enzyme 1 glycogen branching enzyme
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 3 Map Location: 3p12.2
Summary	The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008].
Disorder MIM:	607839
Disorder Html:	Glycogen storage disease IV, 232500 (3); Polyglucosan body disease, adult form, 263570 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000158.3	NP_000149.3	1,4-alpha-glucan-branching enzyme
NM_000158.4	NP_000149.4	1,4-alpha-glucan-branching enzyme

Pathways from BioSystems

Homologies

Gallus gallus (chicken)	GBE1	XP_425536.4
Danio rerio (zebrafish)	si:ch211-213e17.1	XP_002663606.3
Canis lupus familiaris (dog)	LOC478380	XP_535555.3
Rattus norvegicus (Norway rat)	Gbe1	NP_001093972.1
Arabidopsis thaliana (thale cress)	SBE2.1	NP_181180.1
Xenopus tropicalis (tropical clawed frog)	gbe1	XP_004912135.1
Homo sapiens (human)	GBE1	NP_000149.3
Magnaporthe oryzae (rice blast fungus)	MGG_03186	XP_003716803.1
Oryza sativa (rice)	Os02g0528200	NP_001047009.1
Bos taurus (cattle)	GBE1	NP_001116201.1
Drosophila melanogaster (fruit fly)	CG33138	NP_001260941.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP010428	XP_311519.3
Kluyveromyces lactis	KLLA0A11176g	XP_451486.1
Eremothecium gossypii	AGOS_AEL044W	NP_984817.1
Neurospora crassa	NCU05429	XP_963252.2
Arabidopsis thaliana (thale cress)	SBE2.2	NP_195985.3
Pan troglodytes (chimpanzee)	GBE1	XP_516593.2
	GBE1	XP_001118968.2
Mus musculus (house mouse)	Gbe1	NP_083079.1
Danio rerio (zebrafish)	LOC559212	XP_687620.6
Caenorhabditis elegans (roundworm)	CELE_T04A8.7	NP_497961.1
Saccharomyces cerevisiae (baker's yeast)	GLC3	NP_010905.1

Gene Ontology
Bibliography

Related articles in PubMed

A novel GBE1 gene variant in a child with glycogen storage disease type IV.
Said SM, Murphree MI, Mounajjed T, El-Youssef M, Zhang L
Human pathology54152-6(2016 08)

Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.
Furtado LV, Kadri S, Wurst MN, Long BC, Segal JP, Pytel P
Muscle & nerve53(3)473-5(2016 Mar)

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, ?lvarez R, Escrib? PV, Minassian BA, von Delft F, Kakhlon O, Yue WW
Human molecular genetics24(20)5667-76(2015 Oct)

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
Akman HO, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA
JAMA neurology72(4)441-5(2015 Apr)

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

Case Report: novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene resulting in glycogen storage disease type IV.
Title: A novel GBE1 gene variant in a child with glycogen storage disease type IV.

The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation.
Title: Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.

The crystal structure of GBE1 in complex with oligosaccharides was determined, the structural and molecular bases of Adult Polyglucosan Body Disease-linked missense mutations was investigated.
Title: Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease
Title: Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

GBE1 mutations can cause an early adult-onset relapsing-remitting form of polyglucosan body disease distinct from adult polyglucosan body disease in several ways, including younger age at onset.
Title: Branching enzyme deficiency: expanding the clinical spectrum.

The following GBE1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GBE1 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	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)	Select
OHu26410	NM_000158.3 Latest version!	Homo sapiens 1,4-alpha-glucan branching enzyme 1 (GBE1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	12-14	$391.30 $559.00
OHu107608	NM_000158.4 Latest version!	Homo sapiens 1,4-alpha-glucan branching enzyme 1 (GBE1), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	14-16	$391.30 $559.00

ORF Online Only Promotion

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** 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.

Reference Sequences (Refseq)

GBE1 ( NM_000158.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000149.3 Homo sapiens 1,4-alpha-glucan branching enzyme 1 (GBE1), mRNA.

Price & Availability↑

CloneID	OHu26410
Clone ID Related Accession (Same CDS sequence)	NM_000158.3
Accession Version	NM_000158.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 2109bp) 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
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-12-26
Organism	Homo sapiens(human)
Product	1,4-alpha-glucan-branching enzyme
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK125918.1, AB209731.1, BQ632568.1 and BQ022720.1. This sequence is a reference standard in the RefSeqGene project. On Jun 6, 2008 this sequence version replaced NM_000158.2. 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 :: AK125918.1, SRR1660803.25660.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCGGCTC CGATGACTCC CGCGGCTCGG CCCGAGGACT ACGAGGCGGC GCTCAATGCC 
GCCCTGGCTG ACGTGCCCGA ACTGGCCAGA CTCCTGGAGA TCGACCCGTA CTTGAAGCCC 
TACGCCGTGG ACTTCCAGCG CAGGTATAAG CAGTTTAGCC AAATTTTGAA GAACATTGGA 
GAAAATGAAG GTGGTATTGA TAAGTTTTCC AGAGGCTATG AATCATTTGG CGTCCACAGA 
TGTGCTGATG GTGGTTTATA CTGCAAAGAA TGGGCCCCGG GAGCAGAAGG AGTTTTTCTT 
ACTGGAGATT TTAATGGTTG GAATCCATTT TCGTACCCAT ACAAAAAACT GGATTATGGA 
AAATGGGAGC TGTATATCCC ACCAAAGCAG AATAAATCTG TACTCGTGCC TCATGGATCC 
AAATTAAAGG TAGTTATTAC TAGTAAAAGC GGAGAGATCT TGTATCGTAT TTCACCGTGG 
GCAAAGTATG TGGTTCGTGA AGGTGATAAT GTGAATTATG ATTGGATACA CTGGGATCCA 
GAACACTCAT ATGAGTTTAA GCATTCCAGA CCAAAGAAGC CACGGAGTCT AAGAATTTAT 
GAATCTCATG TGGGAATTTC TTCCCATGAA GGAAAAGTAG CTTCTTATAA ACATTTTACA 
TGCAATGTAC TACCAAGAAT CAAAGGCCTT GGATACAACT GCATTCAGTT GATGGCAATC 
ATGGAGCATG CTTACTATGC CAGCTTTGGT TACCAAATCA CAAGCTTCTT TGCAGCTTCC 
AGCCGTTATG GAACACCTGA AGAGCTACAA GAACTGGTAG ACACAGCTCA TTCCATGGGT 
ATCATAGTCC TCTTAGATGT GGTACACAGC CATGCTTCAA AAAATTCAGC AGATGGATTG 
AATATGTTTG ATGGGACAGA TTCCTGTTAT TTTCATTCTG GACCTAGAGG GACTCATGAT 
CTTTGGGATA GCAGATTGTT TGCCTACTCC AGCTGGGAAG TTTTAAGATT CCTTCTGTCA 
AACATAAGAT GGTGGTTGGA AGAATATCGC TTTGATGGAT TTCGTTTTGA TGGTGTTACG 
TCCATGCTTT ATCATCACCA TGGAGTGGGT CAAGGTTTCT CAGGTGATTA CAGTGAATAT 
TTCGGACTAC AAGTAGATGA AGATGCCTTG ACTTACCTCA TGTTGGCAAA TCATTTGGTT 
CACACGCTGT GTCCCGATTC TATAACAATA GCTGAGGATG TATCAGGAAT GCCAGCTCTG 
TGCTCTCCAA TTTCCCAGGG AGGGGGTGGT TTTGACTATC GACTAGCCAT GGCAATTCCA 
GATAAGTGGA TTCAGCTACT TAAAGAGTTT AAAGATGAAG ACTGGAACAT GGGCGATATA 
GTATACACGC TCACAAACAG GCGCTACCTT GAAAAGTGCA TTGCTTATGC AGAGAGCCAT 
GATCAGGCAT TGGTTGGGGA TAAGTCGCTG GCATTTTGGT TGATGGATGC CGAAATGTAT 
ACAAACATGA GTGTCCTGAC TCCTTTTACT CCAGTTATTG ATCGTGGAAT ACAGCTTCAT 
AAAATGATTC GACTCATTAC GCATGGGCTT GGTGGAGAAG GCTATCTCAA TTTCATGGGT 
AATGAATTTG GGCATCCTGA ATGGTTAGAC TTCCCAAGAA AAGGAAATAA TGAGAGTTAC 
CATTATGCCA GGCGGCAGTT TCATTTAACT GACGACGACC TTCTTCGCTA CAAGTTCCTA 
AATAATTTTG ACAGGGATAT GAATAGATTG GAAGAAAGAT ATGGTTGGCT TGCAGCTCCA 
CAGGCCTACG TGAGTGAAAA ACATGAAGGC AATAAGATCA TTGCTTTTGA AAGAGCAGGT 
CTTCTTTTCA TTTTCAACTT CCATCCAAGC AAGAGCTACA CTGACTACCG AGTTGGAACA 
GCATTGCCAG GGAAATTCAA AATTGTGCTA GATTCAGATG CAGCGGAATA TGGAGGGCAT 
CAGAGACTGG ACCACAGCAC TGACTTTTTT TCTGAGGCTT TTGAACATAA TGGGCGTCCC 
TATTCTCTTT TGGTGTACAT TCCAAGCAGA GTGGCCCTCA TCCTTCAGAA TGTGGATCTG 
CCGAATTGA

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

RefSeq	NP_000149.3
CDS	284..2392
Translation	MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEVLRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN

Target ORF information:

RefSeq Version	NM_000158.3
Organism	Homo sapiens(human)
Definition	Homo sapiens 1,4-alpha-glucan branching enzyme 1 (GBE1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000158.3

ORF Insert Sequence:

ATGGCGGCTC CGATGACTCC CGCGGCTCGG CCCGAGGACT ACGAGGCGGC GCTCAATGCC 
GCCCTGGCTG ACGTGCCCGA ACTGGCCAGA CTCCTGGAGA TCGACCCGTA CTTGAAGCCC 
TACGCCGTGG ACTTCCAGCG CAGGTATAAG CAGTTTAGCC AAATTTTGAA GAACATTGGA 
GAAAATGAAG GTGGTATTGA TAAGTTTTCC AGAGGCTATG AATCATTTGG CGTCCACAGA 
TGTGCTGATG GTGGTTTATA CTGCAAAGAA TGGGCCCCGG GAGCAGAAGG AGTTTTTCTT 
ACTGGAGATT TTAATGGTTG GAATCCATTT TCGTACCCAT ACAAAAAACT GGATTATGGA 
AAATGGGAGC TGTATATCCC ACCAAAGCAG AATAAATCTG TACTCGTGCC TCATGGATCC 
AAATTAAAGG TAGTTATTAC TAGTAAAAGC GGAGAGATCT TGTATCGTAT TTCACCGTGG 
GCAAAGTATG TGGTTCGTGA AGGTGATAAT GTGAATTATG ATTGGATACA CTGGGATCCA 
GAACACTCAT ATGAGTTTAA GCATTCCAGA CCAAAGAAGC CACGGAGTCT AAGAATTTAT 
GAATCTCATG TGGGAATTTC TTCCCATGAA GGAAAAGTAG CTTCTTATAA ACATTTTACA 
TGCAATGTAC TACCAAGAAT CAAAGGCCTT GGATACAACT GCATTCAGTT GATGGCAATC 
ATGGAGCATG CTTACTATGC CAGCTTTGGT TACCAAATCA CAAGCTTCTT TGCAGCTTCC 
AGCCGTTATG GAACACCTGA AGAGCTACAA GAACTGGTAG ACACAGCTCA TTCCATGGGT 
ATCATAGTCC TCTTAGATGT GGTACACAGC CATGCTTCAA AAAATTCAGC AGATGGATTG 
AATATGTTTG ATGGGACAGA TTCCTGTTAT TTTCATTCTG GACCTAGAGG GACTCATGAT 
CTTTGGGATA GCAGATTGTT TGCCTACTCC AGCTGGGAAG TTTTAAGATT CCTTCTGTCA 
AACATAAGAT GGTGGTTGGA AGAATATCGC TTTGATGGAT TTCGTTTTGA TGGTGTTACG 
TCCATGCTTT ATCATCACCA TGGAGTGGGT CAAGGTTTCT CAGGTGATTA CAGTGAATAT 
TTCGGACTAC AAGTAGATGA AGATGCCTTG ACTTACCTCA TGTTGGCAAA TCATTTGGTT 
CACACGCTGT GTCCCGATTC TATAACAATA GCTGAGGATG TATCAGGAAT GCCAGCTCTG 
TGCTCTCCAA TTTCCCAGGG AGGGGGTGGT TTTGACTATC GACTAGCCAT GGCAATTCCA 
GATAAGTGGA TTCAGCTACT TAAAGAGTTT AAAGATGAAG ACTGGAACAT GGGCGATATA 
GTATACACGC TCACAAACAG GCGCTACCTT GAAAAGTGCA TTGCTTATGC AGAGAGCCAT 
GATCAGGCAT TGGTTGGGGA TAAGTCGCTG GCATTTTGGT TGATGGATGC CGAAATGTAT 
ACAAACATGA GTGTCCTGAC TCCTTTTACT CCAGTTATTG ATCGTGGAAT ACAGCTTCAT 
AAAATGATTC GACTCATTAC GCATGGGCTT GGTGGAGAAG GCTATCTCAA TTTCATGGGT 
AATGAATTTG GGCATCCTGA ATGGTTAGAC TTCCCAAGAA AAGGAAATAA TGAGAGTTAC 
CATTATGCCA GGCGGCAGTT TCATTTAACT GACGACGACC TTCTTCGCTA CAAGTTCCTA 
AATAATTTTG ACAGGGATAT GAATAGATTG GAAGAAAGAT ATGGTTGGCT TGCAGCTCCA 
CAGGCCTACG TGAGTGAAAA ACATGAAGGC AATAAGATCA TTGCTTTTGA AAGAGCAGGT 
CTTCTTTTCA TTTTCAACTT CCATCCAAGC AAGAGCTACA CTGACTACCG AGTTGGAACA 
GCATTGCCAG GGAAATTCAA AATTGTGCTA GATTCAGATG CAGCGGAATA TGGAGGGCAT 
CAGAGACTGG ACCACAGCAC TGACTTTTTT TCTGAGGCTT TTGAACATAA TGGGCGTCCC 
TATTCTCTTT TGGTGTACAT TCCAAGCAGA GTGGCCCTCA TCCTTCAGAA TGTGGATCTG 
CCGAATTGA

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

GBE1 ( NM_000158.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_000149.4 Homo sapiens 1,4-alpha-glucan branching enzyme 1 (GBE1), mRNA.

Price & Availability↑

CloneID	OHu107608
Clone ID Related Accession (Same CDS sequence)	NM_000158.4
Accession Version	NM_000158.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 2109bp) 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
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-09-26
Organism	Homo sapiens(human)
Product	1,4-alpha-glucan-branching enzyme
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC017015.4, AC025029.16 and AC099049.2. On Nov 23, 2018 this sequence version replaced NM_000158.3. 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 :: SRR1660807.195099.1, AK125918.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000429644.7/ ENSP00000410833.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCGGCTC CGATGACTCC CGCGGCTCGG CCCGAGGACT ACGAGGCGGC GCTCAATGCC 
GCCCTGGCTG ACGTGCCCGA ACTGGCCAGA CTCCTGGAGA TCGACCCGTA CTTGAAGCCC 
TACGCCGTGG ACTTCCAGCG CAGGTATAAG CAGTTTAGCC AAATTTTGAA GAACATTGGA 
GAAAATGAAG GTGGTATTGA TAAGTTTTCC AGAGGCTATG AATCATTTGG CGTCCACAGA 
TGTGCTGATG GTGGTTTATA CTGCAAAGAA TGGGCCCCGG GAGCAGAAGG AGTTTTTCTT 
ACTGGAGATT TTAATGGTTG GAATCCATTT TCGTACCCAT ACAAAAAACT GGATTATGGA 
AAATGGGAGC TGTATATCCC ACCAAAGCAG AATAAATCTG TACTCGTGCC TCATGGATCC 
AAATTAAAGG TAGTTATTAC TAGTAAAAGC GGAGAGATCT TGTATCGTAT TTCACCGTGG 
GCAAAGTATG TGGTTCGTGA AGGTGATAAT GTGAATTATG ATTGGATACA CTGGGATCCA 
GAACACTCAT ATGAGTTTAA GCATTCCAGA CCAAAGAAGC CACGGAGTCT AAGAATTTAT 
GAATCTCATG TGGGAATTTC TTCCCATGAA GGAAAAGTAG CTTCTTATAA ACATTTTACA 
TGCAATGTAC TACCAAGAAT CAAAGGCCTT GGATACAACT GCATTCAGTT GATGGCAATC 
ATGGAGCATG CTTACTATGC CAGCTTTGGT TACCAAATCA CAAGCTTCTT TGCAGCTTCC 
AGCCGTTATG GAACACCTGA AGAGCTACAA GAACTGGTAG ACACAGCTCA TTCCATGGGT 
ATCATAGTCC TCTTAGATGT GGTACACAGC CATGCTTCAA AAAATTCAGC AGATGGATTG 
AATATGTTTG ATGGGACAGA TTCCTGTTAT TTTCATTCTG GACCTAGAGG GACTCATGAT 
CTTTGGGATA GCAGATTGTT TGCCTACTCC AGCTGGGAAA TTTTAAGATT CCTTCTGTCA 
AACATAAGAT GGTGGTTGGA AGAATATCGC TTTGATGGAT TTCGTTTTGA TGGTGTTACG 
TCCATGCTTT ATCATCACCA TGGAGTGGGT CAAGGTTTCT CAGGTGATTA CAGTGAATAT 
TTCGGACTAC AAGTAGATGA AGATGCCTTG ACTTACCTCA TGTTGGCAAA TCATTTGGTT 
CACACGCTGT GTCCCGATTC TATAACAATA GCTGAGGATG TATCAGGAAT GCCAGCTCTG 
TGCTCTCCAA TTTCCCAGGG AGGGGGTGGT TTTGACTATC GACTAGCCAT GGCAATTCCA 
GATAAGTGGA TTCAGCTACT TAAAGAGTTT AAAGATGAAG ACTGGAACAT GGGCGATATA 
GTATACACGC TCACAAACAG GCGCTACCTT GAAAAGTGCA TTGCTTATGC AGAGAGCCAT 
GATCAGGCAT TGGTTGGGGA TAAGTCGCTG GCATTTTGGT TGATGGATGC CGAAATGTAT 
ACAAACATGA GTGTCCTGAC TCCTTTTACT CCAGTTATTG ATCGTGGAAT ACAGCTTCAT 
AAAATGATTC GACTCATTAC GCATGGGCTT GGTGGAGAAG GCTATCTCAA TTTCATGGGT 
AATGAATTTG GGCATCCTGA ATGGTTAGAC TTCCCAAGAA AAGGAAATAA TGAGAGTTAC 
CATTATGCCA GGCGGCAGTT TCATTTAACT GACGACGACC TTCTTCGCTA CAAGTTCCTA 
AATAATTTTG ACAGGGATAT GAATAGATTG GAAGAAAGAT ATGGTTGGCT TGCAGCTCCA 
CAGGCCTACG TGAGTGAAAA ACATGAAGGC AATAAGATCA TTGCTTTTGA AAGAGCAGGT 
CTTCTTTTCA TTTTCAACTT CCATCCAAGC AAGAGCTACA CTGACTACCG AGTTGGAACA 
GCATTGCCAG GGAAATTCAA AATTGTGCTA GATTCAGATG CAGCGGAATA TGGAGGGCAT 
CAGAGACTGG ACCACAGCAC TGACTTTTTT TCTGAGGCTT TTGAACATAA TGGGCGTCCC 
TATTCTCTTT TGGTGTACAT TCCAAGCAGA GTGGCCCTCA TCCTTCAGAA TGTGGATCTG 
CCGAATTGA

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

RefSeq	NP_000149.4
CDS	129..2237
Translation	MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN

Target ORF information:

RefSeq Version	NM_000158.4
Organism	Homo sapiens(human)
Definition	Homo sapiens 1,4-alpha-glucan branching enzyme 1 (GBE1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000158.4

ORF Insert Sequence:

ATGGCGGCTC CGATGACTCC CGCGGCTCGG CCCGAGGACT ACGAGGCGGC GCTCAATGCC 
GCCCTGGCTG ACGTGCCCGA ACTGGCCAGA CTCCTGGAGA TCGACCCGTA CTTGAAGCCC 
TACGCCGTGG ACTTCCAGCG CAGGTATAAG CAGTTTAGCC AAATTTTGAA GAACATTGGA 
GAAAATGAAG GTGGTATTGA TAAGTTTTCC AGAGGCTATG AATCATTTGG CGTCCACAGA 
TGTGCTGATG GTGGTTTATA CTGCAAAGAA TGGGCCCCGG GAGCAGAAGG AGTTTTTCTT 
ACTGGAGATT TTAATGGTTG GAATCCATTT TCGTACCCAT ACAAAAAACT GGATTATGGA 
AAATGGGAGC TGTATATCCC ACCAAAGCAG AATAAATCTG TACTCGTGCC TCATGGATCC 
AAATTAAAGG TAGTTATTAC TAGTAAAAGC GGAGAGATCT TGTATCGTAT TTCACCGTGG 
GCAAAGTATG TGGTTCGTGA AGGTGATAAT GTGAATTATG ATTGGATACA CTGGGATCCA 
GAACACTCAT ATGAGTTTAA GCATTCCAGA CCAAAGAAGC CACGGAGTCT AAGAATTTAT 
GAATCTCATG TGGGAATTTC TTCCCATGAA GGAAAAGTAG CTTCTTATAA ACATTTTACA 
TGCAATGTAC TACCAAGAAT CAAAGGCCTT GGATACAACT GCATTCAGTT GATGGCAATC 
ATGGAGCATG CTTACTATGC CAGCTTTGGT TACCAAATCA CAAGCTTCTT TGCAGCTTCC 
AGCCGTTATG GAACACCTGA AGAGCTACAA GAACTGGTAG ACACAGCTCA TTCCATGGGT 
ATCATAGTCC TCTTAGATGT GGTACACAGC CATGCTTCAA AAAATTCAGC AGATGGATTG 
AATATGTTTG ATGGGACAGA TTCCTGTTAT TTTCATTCTG GACCTAGAGG GACTCATGAT 
CTTTGGGATA GCAGATTGTT TGCCTACTCC AGCTGGGAAA TTTTAAGATT CCTTCTGTCA 
AACATAAGAT GGTGGTTGGA AGAATATCGC TTTGATGGAT TTCGTTTTGA TGGTGTTACG 
TCCATGCTTT ATCATCACCA TGGAGTGGGT CAAGGTTTCT CAGGTGATTA CAGTGAATAT 
TTCGGACTAC AAGTAGATGA AGATGCCTTG ACTTACCTCA TGTTGGCAAA TCATTTGGTT 
CACACGCTGT GTCCCGATTC TATAACAATA GCTGAGGATG TATCAGGAAT GCCAGCTCTG 
TGCTCTCCAA TTTCCCAGGG AGGGGGTGGT TTTGACTATC GACTAGCCAT GGCAATTCCA 
GATAAGTGGA TTCAGCTACT TAAAGAGTTT AAAGATGAAG ACTGGAACAT GGGCGATATA 
GTATACACGC TCACAAACAG GCGCTACCTT GAAAAGTGCA TTGCTTATGC AGAGAGCCAT 
GATCAGGCAT TGGTTGGGGA TAAGTCGCTG GCATTTTGGT TGATGGATGC CGAAATGTAT 
ACAAACATGA GTGTCCTGAC TCCTTTTACT CCAGTTATTG ATCGTGGAAT ACAGCTTCAT 
AAAATGATTC GACTCATTAC GCATGGGCTT GGTGGAGAAG GCTATCTCAA TTTCATGGGT 
AATGAATTTG GGCATCCTGA ATGGTTAGAC TTCCCAAGAA AAGGAAATAA TGAGAGTTAC 
CATTATGCCA GGCGGCAGTT TCATTTAACT GACGACGACC TTCTTCGCTA CAAGTTCCTA 
AATAATTTTG ACAGGGATAT GAATAGATTG GAAGAAAGAT ATGGTTGGCT TGCAGCTCCA 
CAGGCCTACG TGAGTGAAAA ACATGAAGGC AATAAGATCA TTGCTTTTGA AAGAGCAGGT 
CTTCTTTTCA TTTTCAACTT CCATCCAAGC AAGAGCTACA CTGACTACCG AGTTGGAACA 
GCATTGCCAG GGAAATTCAA AATTGTGCTA GATTCAGATG CAGCGGAATA TGGAGGGCAT 
CAGAGACTGG ACCACAGCAC TGACTTTTTT TCTGAGGCTT TTGAACATAA TGGGCGTCCC 
TATTCTCTTT TGGTGTACAT TCCAAGCAGA GTGGCCCTCA TCCTTCAGAA TGTGGATCTG 
CCGAATTGA

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

PubMed

A novel GBE1 gene variant in a child with glycogen storage disease type IV.
Human pathology54152-6(2016 08)
Said SM,Murphree MI,Mounajjed T,El-Youssef M,Zhang L

Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.
Muscle & nerve53(3)473-5(2016 Mar)
Furtado LV,Kadri S,Wurst MN,Long BC,Segal JP,Pytel P

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Human molecular genetics24(20)5667-76(2015 Oct)
Froese DS,Michaeli A,McCorvie TJ,Krojer T,Sasi M,Melaev E,Goldblum A,Zatsepin M,Lossos A,?lvarez R,Escrib? PV,Minassian BA,von Delft F,Kakhlon O,Yue WW

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
JAMA neurology72(4)441-5(2015 Apr)
Akman HO,Kakhlon O,Coku J,Peverelli L,Rosenmann H,Rozenstein-Tsalkovich L,Turnbull J,Meiner V,Chama L,Lerer I,Shpitzen S,Leitersdorf E,Paradas C,Wallace M,Schiffmann R,DiMauro S,Lossos A,Minassian BA

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GBE1 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

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Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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