AGA cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	AGA
Entrez Gene ID	175
Full Name	aspartylglucosaminidase
Synonyms	AGU,ASRG,GA
General protein information	Preferred Names aspartylglucosaminidase Names N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase aspartylglucosylamine deaspartylase glycosylasparaginase
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 4 Map Location: 4q34.3
Summary	This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015].
Disorder MIM:	613228
Disorder Html:	Aspartylglucosaminuria, 208400 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001171988.1	NP_001165459.1	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 2 precursor
NM_000027.3	NP_000018.2	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein
NM_000027.4	NP_000018.2	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein

Pathways from BioSystems

Homologies

Pan troglodytes (chimpanzee)	AGA	XP_517545.2
Bos taurus (cattle)	AGA	NP_001068979.1
Mus musculus (house mouse)	Aga	NP_001005847.1
Rattus norvegicus (Norway rat)	Aga	NP_001026811.1
Danio rerio (zebrafish)	aga	NP_001103751.1
Drosophila melanogaster (fruit fly)	CG1827	NP_610504.3
Homo sapiens (human)	AGA	NP_000018.2
Caenorhabditis elegans (roundworm)	R04B3.2	NP_508448.1
Oryza sativa (rice)	Os04g0549300	NP_001053482.1
Xenopus tropicalis (tropical clawed frog)	aga	XP_002934303.2
Canis lupus familiaris (dog)	AGA	XP_005630078.1
Drosophila melanogaster (fruit fly)	CG10474	NP_611404.1
Magnaporthe oryzae (rice blast fungus)	MGG_03346	XP_003716606.1
	AGA	XP_001090811.2
Gallus gallus (chicken)	AGA	NP_001006445.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP012301	XP_320240.4
Arabidopsis thaliana (thale cress)	AT5G61540	NP_200962.2

Gene Ontology
Bibliography

Related articles in PubMed

Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate.
Pande S, Lakshminarasimhan D, Guo HC
Molecular genetics and metabolism121(2)150-156(2017 Jun)

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T
Brain & development39(5)422-425(2017 May)

Development of a model system for neuronal dysfunction in Fabry disease.
Kaneski CR, Brady RO, Hanover JA, Schueler UH
Molecular genetics and metabolism119(1-2)144-50(2016 09)

Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum.
Thaysen-Andersen M, Venkatakrishnan V, Loke I, Laurini C, Diestel S, Parker BL, Packer NH
The Journal of biological chemistry290(14)8789-802(2015 Apr)

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

We show that gene-silenced cells show specifically reduced AGA activity and store globotriaosylceramide. In gene-silenced cells, release of the neurotransmitter acetylcholine is significantly reduced, demonstrating that this model may be used to study specific neuronal functions such as neurotransmitter release in Fabry disease
Title: Development of a model system for neuronal dysfunction in Fabry disease.

study reports 2 novel aspartylglucosaminidase gene mutations, one in Qatari twins with an early, perinatal presentation not previously described for aspartylglucosaminuria and the other in 3 Turkish children with newly diagnosed aspartylglucosaminuria and a more classical disease course
Title: Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

[review] Natural killer (NK) cell tumors, subtypes of myeloid leukemias and T-cell lymphomas respond to ASNase; ovarian carcinomas and other solid tumors have been proposed as additional targets for ASNase, with a potential role for glutaminase. activity.
Title: Expanding targets for a metabolic therapy of cancer: L-asparaginase.

Increased AGA plasma activity, although a consistent finding in congenital disorders of glycosylation patients, is not specific to this group of disorders.
Title: Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.

The amino acid substitutions in aspartylglucosaminidase responsible for aspartylglucosaminuria were classified and divided in three groups.
Title: Structural basis of aspartylglucosaminuria.

The following AGA gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the AGA 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)
OHu12301	NM_001171988.1 Latest version!	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$202.30 $289.00
OHu21642	NM_000027.4 Latest version!	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$265.30 $379.00
View Old Accession Versions >>
OHu21642	NM_000027.3	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$265.30 $379.00
Hide Old Accession Versions >>

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** 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)

AGA ( NM_001171988.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001165459.1 Homo sapiens aspartylglucosaminidase (AGA), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu12301
Clone ID Related Accession (Same CDS sequence)	NM_001171988.1
Accession Version	NM_001171988.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1011bp) 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	2019-12-27
Organism	Homo sapiens(human)
Product	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 2 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA346002.1, BC012392.1, AW467768.1, AC027627.6 and BM968469.1. Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the central coding region compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1. 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 :: SRR1803612.329846.1, SRR1163655.424718.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCGCGGA AGTCGAACTT GCCTGTGCTT CTCGTGCCGT TTCTGCTCTG CCAGGCCCTA 
GTGCGCTGCT CCAGCCCTCT GCCCCTGGTC GTCAACACTT GGCCCTTTAA GAATGCAACC 
GAAGCAGCGT GGAGGGCATT AGCATCTGGA GGCTCTGCCC TGGATGCAGT GGAGAGCGGC 
TGTGCCATGT GTGAGAGAGA GCAGTGTGAC GGCTCTGTAG GCTTTGGAGG AAGTCCTGAT 
GAACTTGGAG AAACCACACT AGATGCCATG ATCATGGATG GCACTACTAT GGATGTAGGA 
GCAGTAGGAG ATCTCAGACG AATTAAAAAT GCTATTGGTG TGGCACGGAA AGTACTGGAA 
CATACAACAC ACACACTTTT AGTAGGAGAG TCAGCCACCA CATTTGCTCA AAGTATGGGG 
TTTATCAATG AAGACTTATC TACCACTGCT TCTCAAGCTC TTCATTCAGA TTGGCTTGCT 
CGGAATTGCC AGCCAAATTA TTGGAGGAAT GTTATACCAG ATCCCTCAAA ATACTGCGGA 
CCCTACAAAC CACCTGGTAT CTTAAAGCAG GATATTCCTA TCCATAAAGA AACAGAAGAT 
GATCGTGGTC ATGACACTAT TGGCATGGTT GTAATCCATA AGACAGGACA TATTGCTGCT 
GGTACATCTA CAAATGGAGA CTCACCAATA CCTGGAGCTG GAGCCTATGC TGACGATACT 
GCAGGGGCAG CCGCAGCCAC TGGGAATGGT GATATATTGA TGCGCTTCCT GCCAAGCTAC 
CAAGCTGTAG AATACATGAG AAGAGGAGAA GATCCAACCA TAGCTTGCCA AAAAGTGATT 
TCAAGAATCC AGAAGCATTT TCCAGAATTC TTTGGGGCTG TTATATGTGC CAATGTGACT 
GGAAGTTACG GTGCTGCTTG CAATAAACTT TCAACATTTA CTCAGTTTAG TTTCATGGTT 
TATAATTCCG AAAAAAATCA GCCAACTGAG GAAAAAGTGG ACTGCATCTA A

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

RefSeq	NP_001165459.1
CDS	129..1139
Translation	MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGTSTNGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI

Target ORF information:

RefSeq Version	NM_001171988.1
Organism	Homo sapiens(human)
Definition	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 2, mRNA.

Target ORF information:

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

NM_001171988.1

ORF Insert Sequence:

ATGGCGCGGA AGTCGAACTT GCCTGTGCTT CTCGTGCCGT TTCTGCTCTG CCAGGCCCTA 
GTGCGCTGCT CCAGCCCTCT GCCCCTGGTC GTCAACACTT GGCCCTTTAA GAATGCAACC 
GAAGCAGCGT GGAGGGCATT AGCATCTGGA GGCTCTGCCC TGGATGCAGT GGAGAGCGGC 
TGTGCCATGT GTGAGAGAGA GCAGTGTGAC GGCTCTGTAG GCTTTGGAGG AAGTCCTGAT 
GAACTTGGAG AAACCACACT AGATGCCATG ATCATGGATG GCACTACTAT GGATGTAGGA 
GCAGTAGGAG ATCTCAGACG AATTAAAAAT GCTATTGGTG TGGCACGGAA AGTACTGGAA 
CATACAACAC ACACACTTTT AGTAGGAGAG TCAGCCACCA CATTTGCTCA AAGTATGGGG 
TTTATCAATG AAGACTTATC TACCACTGCT TCTCAAGCTC TTCATTCAGA TTGGCTTGCT 
CGGAATTGCC AGCCAAATTA TTGGAGGAAT GTTATACCAG ATCCCTCAAA ATACTGCGGA 
CCCTACAAAC CACCTGGTAT CTTAAAGCAG GATATTCCTA TCCATAAAGA AACAGAAGAT 
GATCGTGGTC ATGACACTAT TGGCATGGTT GTAATCCATA AGACAGGACA TATTGCTGCT 
GGTACATCTA CAAATGGAGA CTCACCAATA CCTGGAGCTG GAGCCTATGC TGACGATACT 
GCAGGGGCAG CCGCAGCCAC TGGGAATGGT GATATATTGA TGCGCTTCCT GCCAAGCTAC 
CAAGCTGTAG AATACATGAG AAGAGGAGAA GATCCAACCA TAGCTTGCCA AAAAGTGATT 
TCAAGAATCC AGAAGCATTT TCCAGAATTC TTTGGGGCTG TTATATGTGC CAATGTGACT 
GGAAGTTACG GTGCTGCTTG CAATAAACTT TCAACATTTA CTCAGTTTAG TTTCATGGTT 
TATAATTCCG AAAAAAATCA GCCAACTGAG GAAAAAGTGG ACTGCATCTA A

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

AGA ( NM_000027.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000018.2 Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu21642
Clone ID Related Accession (Same CDS sequence)	NM_000027.3 , NM_000027.4
Accession Version	NM_000027.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1041bp) 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	2017-12-10
Organism	Homo sapiens(human)
Product	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA346002.1, BC012392.1, AW467768.1, AC027627.6 and BM968469.1. This sequence is a reference standard in the RefSeqGene project. On Jan 30, 2010 this sequence version replaced NM_000027.2. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). 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 :: SRR1803616.223518.1, SRR1803611.108629.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCGCGGA AGTCGAACTT GCCTGTGCTT CTCGTGCCGT TTCTGCTCTG CCAGGCCCTA 
GTGCGCTGCT CCAGCCCTCT GCCCCTGGTC GTCAACACTT GGCCCTTTAA GAATGCAACC 
GAAGCAGCGT GGAGGGCATT AGCATCTGGA GGCTCTGCCC TGGATGCAGT GGAGAGCGGC 
TGTGCCATGT GTGAGAGAGA GCAGTGTGAC GGCTCTGTAG GCTTTGGAGG AAGTCCTGAT 
GAACTTGGAG AAACCACACT AGATGCCATG ATCATGGATG GCACTACTAT GGATGTAGGA 
GCAGTAGGAG ATCTCAGACG AATTAAAAAT GCTATTGGTG TGGCACGGAA AGTACTGGAA 
CATACAACAC ACACACTTTT AGTAGGAGAG TCAGCCACCA CATTTGCTCA AAGTATGGGG 
TTTATCAATG AAGACTTATC TACCACTGCT TCTCAAGCTC TTCATTCAGA TTGGCTTGCT 
CGGAATTGCC AGCCAAATTA TTGGAGGAAT GTTATACCAG ATCCCTCAAA ATACTGCGGA 
CCCTACAAAC CACCTGGTAT CTTAAAGCAG GATATTCCTA TCCATAAAGA AACAGAAGAT 
GATCGTGGTC ATGACACTAT TGGCATGGTT GTAATCCATA AGACAGGACA TATTGCTGCT 
GGTACATCTA CAAATGGTAT AAAATTCAAA ATACATGGCC GTGTAGGAGA CTCACCAATA 
CCTGGAGCTG GAGCCTATGC TGACGATACT GCAGGGGCAG CCGCAGCCAC TGGGAATGGT 
GATATATTGA TGCGCTTCCT GCCAAGCTAC CAAGCTGTAG AATACATGAG AAGAGGAGAA 
GATCCAACCA TAGCTTGCCA AAAAGTGATT TCAAGAATCC AGAAGCATTT TCCAGAATTC 
TTTGGGGCTG TTATATGTGC CAATGTGACT GGAAGTTACG GTGCTGCTTG CAATAAACTT 
TCAACATTTA CTCAGTTTAG TTTCATGGTT TATAATTCCG AAAAAAATCA GCCAACTGAG 
GAAAAAGTGG ACTGCATCTA A

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

RefSeq	NP_000018.2
CDS	129..1169
Translation	MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGTSTNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI

Target ORF information:

RefSeq Version	NM_000027.3
Organism	Homo sapiens(human)
Definition	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.

Target ORF information:

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

NM_000027.3

ORF Insert Sequence:

ATGGCGCGGA AGTCGAACTT GCCTGTGCTT CTCGTGCCGT TTCTGCTCTG CCAGGCCCTA 
GTGCGCTGCT CCAGCCCTCT GCCCCTGGTC GTCAACACTT GGCCCTTTAA GAATGCAACC 
GAAGCAGCGT GGAGGGCATT AGCATCTGGA GGCTCTGCCC TGGATGCAGT GGAGAGCGGC 
TGTGCCATGT GTGAGAGAGA GCAGTGTGAC GGCTCTGTAG GCTTTGGAGG AAGTCCTGAT 
GAACTTGGAG AAACCACACT AGATGCCATG ATCATGGATG GCACTACTAT GGATGTAGGA 
GCAGTAGGAG ATCTCAGACG AATTAAAAAT GCTATTGGTG TGGCACGGAA AGTACTGGAA 
CATACAACAC ACACACTTTT AGTAGGAGAG TCAGCCACCA CATTTGCTCA AAGTATGGGG 
TTTATCAATG AAGACTTATC TACCACTGCT TCTCAAGCTC TTCATTCAGA TTGGCTTGCT 
CGGAATTGCC AGCCAAATTA TTGGAGGAAT GTTATACCAG ATCCCTCAAA ATACTGCGGA 
CCCTACAAAC CACCTGGTAT CTTAAAGCAG GATATTCCTA TCCATAAAGA AACAGAAGAT 
GATCGTGGTC ATGACACTAT TGGCATGGTT GTAATCCATA AGACAGGACA TATTGCTGCT 
GGTACATCTA CAAATGGTAT AAAATTCAAA ATACATGGCC GTGTAGGAGA CTCACCAATA 
CCTGGAGCTG GAGCCTATGC TGACGATACT GCAGGGGCAG CCGCAGCCAC TGGGAATGGT 
GATATATTGA TGCGCTTCCT GCCAAGCTAC CAAGCTGTAG AATACATGAG AAGAGGAGAA 
GATCCAACCA TAGCTTGCCA AAAAGTGATT TCAAGAATCC AGAAGCATTT TCCAGAATTC 
TTTGGGGCTG TTATATGTGC CAATGTGACT GGAAGTTACG GTGCTGCTTG CAATAAACTT 
TCAACATTTA CTCAGTTTAG TTTCATGGTT TATAATTCCG AAAAAAATCA GCCAACTGAG 
GAAAAAGTGG ACTGCATCTA A

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

AGA ( NM_000027.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_000018.2 Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu21642
Clone ID Related Accession (Same CDS sequence)	NM_000027.3 , NM_000027.4
Accession Version	NM_000027.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1041bp) 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	2019-08-21
Organism	Homo sapiens(human)
Product	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA346002.1, BC012392.1, AW467768.1, AC027627.6 and BM968469.1. This sequence is a reference standard in the RefSeqGene project. On Nov 20, 2018 this sequence version replaced NM_000027.3. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). 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 :: SRR3476690.973824.1, SRR1803612.248008.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000264595.7/ ENSP00000264595.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCGCGGA AGTCGAACTT GCCTGTGCTT CTCGTGCCGT TTCTGCTCTG CCAGGCCCTA 
GTGCGCTGCT CCAGCCCTCT GCCCCTGGTC GTCAACACTT GGCCCTTTAA GAATGCAACC 
GAAGCAGCGT GGAGGGCATT AGCATCTGGA GGCTCTGCCC TGGATGCAGT GGAGAGCGGC 
TGTGCCATGT GTGAGAGAGA GCAGTGTGAC GGCTCTGTAG GCTTTGGAGG AAGTCCTGAT 
GAACTTGGAG AAACCACACT AGATGCCATG ATCATGGATG GCACTACTAT GGATGTAGGA 
GCAGTAGGAG ATCTCAGACG AATTAAAAAT GCTATTGGTG TGGCACGGAA AGTACTGGAA 
CATACAACAC ACACACTTTT AGTAGGAGAG TCAGCCACCA CATTTGCTCA AAGTATGGGG 
TTTATCAATG AAGACTTATC TACCACTGCT TCTCAAGCTC TTCATTCAGA TTGGCTTGCT 
CGGAATTGCC AGCCAAATTA TTGGAGGAAT GTTATACCAG ATCCCTCAAA ATACTGCGGA 
CCCTACAAAC CACCTGGTAT CTTAAAGCAG GATATTCCTA TCCATAAAGA AACAGAAGAT 
GATCGTGGTC ATGACACTAT TGGCATGGTT GTAATCCATA AGACAGGACA TATTGCTGCT 
GGTACATCTA CAAATGGTAT AAAATTCAAA ATACATGGCC GTGTAGGAGA CTCACCAATA 
CCTGGAGCTG GAGCCTATGC TGACGATACT GCAGGGGCAG CCGCAGCCAC TGGGAATGGT 
GATATATTGA TGCGCTTCCT GCCAAGCTAC CAAGCTGTAG AATACATGAG AAGAGGAGAA 
GATCCAACCA TAGCTTGCCA AAAAGTGATT TCAAGAATCC AGAAGCATTT TCCAGAATTC 
TTTGGGGCTG TTATATGTGC CAATGTGACT GGAAGTTACG GTGCTGCTTG CAATAAACTT 
TCAACATTTA CTCAGTTTAG TTTCATGGTT TATAATTCCG AAAAAAATCA GCCAACTGAG 
GAAAAAGTGG ACTGCATCTA A

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

RefSeq	NP_000018.2
CDS	63..1103
Translation	MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGTSTNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI

Target ORF information:

RefSeq Version	NM_000027.4
Organism	Homo sapiens(human)
Definition	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.

Target ORF information:

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

NM_000027.4

ORF Insert Sequence:

ATGGCGCGGA AGTCGAACTT GCCTGTGCTT CTCGTGCCGT TTCTGCTCTG CCAGGCCCTA 
GTGCGCTGCT CCAGCCCTCT GCCCCTGGTC GTCAACACTT GGCCCTTTAA GAATGCAACC 
GAAGCAGCGT GGAGGGCATT AGCATCTGGA GGCTCTGCCC TGGATGCAGT GGAGAGCGGC 
TGTGCCATGT GTGAGAGAGA GCAGTGTGAC GGCTCTGTAG GCTTTGGAGG AAGTCCTGAT 
GAACTTGGAG AAACCACACT AGATGCCATG ATCATGGATG GCACTACTAT GGATGTAGGA 
GCAGTAGGAG ATCTCAGACG AATTAAAAAT GCTATTGGTG TGGCACGGAA AGTACTGGAA 
CATACAACAC ACACACTTTT AGTAGGAGAG TCAGCCACCA CATTTGCTCA AAGTATGGGG 
TTTATCAATG AAGACTTATC TACCACTGCT TCTCAAGCTC TTCATTCAGA TTGGCTTGCT 
CGGAATTGCC AGCCAAATTA TTGGAGGAAT GTTATACCAG ATCCCTCAAA ATACTGCGGA 
CCCTACAAAC CACCTGGTAT CTTAAAGCAG GATATTCCTA TCCATAAAGA AACAGAAGAT 
GATCGTGGTC ATGACACTAT TGGCATGGTT GTAATCCATA AGACAGGACA TATTGCTGCT 
GGTACATCTA CAAATGGTAT AAAATTCAAA ATACATGGCC GTGTAGGAGA CTCACCAATA 
CCTGGAGCTG GAGCCTATGC TGACGATACT GCAGGGGCAG CCGCAGCCAC TGGGAATGGT 
GATATATTGA TGCGCTTCCT GCCAAGCTAC CAAGCTGTAG AATACATGAG AAGAGGAGAA 
GATCCAACCA TAGCTTGCCA AAAAGTGATT TCAAGAATCC AGAAGCATTT TCCAGAATTC 
TTTGGGGCTG TTATATGTGC CAATGTGACT GGAAGTTACG GTGCTGCTTG CAATAAACTT 
TCAACATTTA CTCAGTTTAG TTTCATGGTT TATAATTCCG AAAAAAATCA GCCAACTGAG 
GAAAAAGTGG ACTGCATCTA A

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

PubMed

Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate.
Molecular genetics and metabolism121(2)150-156(2017 Jun)
Pande S,Lakshminarasimhan D,Guo HC

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
Brain & development39(5)422-425(2017 May)
Yamamoto T,Shimojima K,Matsufuji M,Mashima R,Sakai E,Okuyama T

Development of a model system for neuronal dysfunction in Fabry disease.
Molecular genetics and metabolism119(1-2)144-50(2016 09)
Kaneski CR,Brady RO,Hanover JA,Schueler UH

Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum.
The Journal of biological chemistry290(14)8789-802(2015 Apr)
Thaysen-Andersen M,Venkatakrishnan V,Loke I,Laurini C,Diestel S,Parker BL,Packer NH

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AGA cDNA ORF clone, Homo sapiens(human)

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Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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