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GNPTG cDNA ORF clone, Homo sapiens (human)

Gene Symbol GNPTG
Entrez Gene ID 84572
Full Name N-acetylglucosamine-1-phosphate transferase, gamma subunit
Synonyms C16orf27, GNPTAG, LP2537, RJD9
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p13.3

Summary This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]. lac of sum
Disorder MIM:

607838

Disorder Html: Mucolipidosis III gamma, 252605 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_032520 NP_115909 N-acetylglucosamine-1-phosphotransferase subunit gamma precursor



Homo sapiens (human) GNPTG NP_115909.1
Pan troglodytes (chimpanzee) GNPTG XP_001159025.1
Canis lupus familiaris (dog) GNPTG XP_003639173.2
Bos taurus (cattle) GNPTG NP_001017428.1
Mus musculus (house mouse) Gnptg NP_766117.2
Rattus norvegicus (Norway rat) Gnptg NP_001093963.1
Gallus gallus (chicken) GNPTG NP_001264495.1
Danio rerio (zebrafish) gnptg NP_001002057.2
Xenopus (Silurana) tropicalis (western clawed frog) gnptg NP_001011369.1


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

The following GNPTG gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GNPTG 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
OHu20222 NM_032520 Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $216.30
$309.00
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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.


CloneID OHu20222
Clone ID Related Accession (Same CDS sequence) NM_032520
Accession Version NM_032520.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 918bp)
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
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product N-acetylglucosamine-1-phosphotransferase subunit gamma precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DT219524.1, BC014592.1, AK312067.1 and AY203933.1. This sequence is a reference standard in the RefSeqGene project. On Feb 12, 2010 this sequence version replaced gi:42476109. 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 :: AY203933.1, BC014592.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##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
ATGGCGGCGG GGCTGGCGCG GCTCCTGTTG CTCCTCGGGC TCTCGGCCGG CGGGCCCGCG 
CCGGCAGGTG CAGCGAAGAT GAAGGTGGTG GAGGAGCCCA ACGCGTTTGG GGTGAACAAC
CCGTTCTTGC CTCAGGCCAG TCGCCTCCAG GCCAAGAGGG ATCCTTCACC CGTGTCTGGA
CCCGTGCATC TCTTCCGACT CTCGGGCAAG TGCTTCAGCC TGGTGGAGTC CACGTACAAG
TATGAGTTCT GCCCGTTCCA CAACGTGACC CAGCACGAGC AGACCTTCCG CTGGAACGCC
TACAGTGGGA TCCTCGGCAT CTGGCACGAG TGGGAGATCG CCAACAACAC CTTCACGGGC
ATGTGGATGA GGGACGGTGA CGCCTGCCGT TCCCGGAGCC GGCAGAGCAA GGTGGAGCTG
GCGTGTGGAA AAAGCAACCG GCTGGCCCAT GTGTCCGAGC CGAGCACCTG CGTCTACGCG
CTGACGTTCG AGACCCCCCT CGTCTGCCAC CCCCACGCCT TGCTAGTGTA CCCAACCCTG
CCAGAGGCCC TGCAGCGGCA GTGGGACCAG GTAGAGCAGG ACCTGGCCGA TGAGCTGATC
ACCCCCCAGG GCCATGAGAA GTTGCTGAGG ACACTTTTTG AGGATGCTGG CTACTTAAAG
ACCCCAGAAG AAAATGAACC CACCCAGCTG GAGGGAGGTC CTGACAGCTT GGGGTTTGAG
ACCCTGGAAA ACTGCAGGAA GGCTCATAAA GAACTCTCAA AGGAGATCAA AAGGCTGAAA
GGTTTGCTCA CCCAGCACGG CATCCCCTAC ACGAGGCCCA CAGAAACTTC CAACTTGGAG
CACTTGGGCC ACGAGACGCC CAGAGCCAAG TCTCCAGAGC AGCTGCGGGG TGACCCAGGA
CTGCGTGGGA GTTTGTGA

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

RefSeq NP_115909.1
CDS68..985
Misc Feature(1)41..43(+)
Misc Feature(2)272..454(+)
Exon (1)1..119
Gene:GNPTG
Gene Synonym:
Exon (2)120..177
Gene:GNPTG
Gene Synonym:
Exon (3)178..245
Gene:GNPTG
Gene Synonym:
Exon (4)246..300
Gene:GNPTG
Gene Synonym:
Exon (5)301..384
Gene:GNPTG
Gene Synonym:
Exon (6)385..478
Gene:GNPTG
Gene Synonym:
Exon (7)479..593
Gene:GNPTG
Gene Synonym:
Exon (8)594..676
Gene:GNPTG
Gene Synonym:
Exon (9)677..808
Gene:GNPTG
Gene Synonym:
Exon (10)809..890
Gene:GNPTG
Gene Synonym:
Exon (11)891..1245
Gene:GNPTG
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_032520
Organism Homo sapiens (human)
Definition Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_032520

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGCGGCGG GGCTGGCGCG GCTCCTGTTG CTCCTCGGGC TCTCGGCCGG CGGGCCCGCG 
CCGGCAGGTG CAGCGAAGAT GAAGGTGGTG GAGGAGCCCA ACGCGTTTGG GGTGAACAAC
CCGTTCTTGC CTCAGGCCAG TCGCCTCCAG GCCAAGAGGG ATCCTTCACC CGTGTCTGGA
CCCGTGCATC TCTTCCGACT CTCGGGCAAG TGCTTCAGCC TGGTGGAGTC CACGTACAAG
TATGAGTTCT GCCCGTTCCA CAACGTGACC CAGCACGAGC AGACCTTCCG CTGGAACGCC
TACAGTGGGA TCCTCGGCAT CTGGCACGAG TGGGAGATCG CCAACAACAC CTTCACGGGC
ATGTGGATGA GGGACGGTGA CGCCTGCCGT TCCCGGAGCC GGCAGAGCAA GGTGGAGCTG
GCGTGTGGAA AAAGCAACCG GCTGGCCCAT GTGTCCGAGC CGAGCACCTG CGTCTACGCG
CTGACGTTCG AGACCCCCCT CGTCTGCCAC CCCCACGCCT TGCTAGTGTA CCCAACCCTG
CCAGAGGCCC TGCAGCGGCA GTGGGACCAG GTAGAGCAGG ACCTGGCCGA TGAGCTGATC
ACCCCCCAGG GCCATGAGAA GTTGCTGAGG ACACTTTTTG AGGATGCTGG CTACTTAAAG
ACCCCAGAAG AAAATGAACC CACCCAGCTG GAGGGAGGTC CTGACAGCTT GGGGTTTGAG
ACCCTGGAAA ACTGCAGGAA GGCTCATAAA GAACTCTCAA AGGAGATCAA AAGGCTGAAA
GGTTTGCTCA CCCAGCACGG CATCCCCTAC ACGAGGCCCA CAGAAACTTC CAACTTGGAG
CACTTGGGCC ACGAGACGCC CAGAGCCAAG TCTCCAGAGC AGCTGCGGGG TGACCCAGGA
CTGCGTGGGA GTTTGTGA

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

book

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma
Gene 535 (2), 294-298 (2014)
Liu S, Zhang W, Shi H, Meng Y and Qiu Z.


book

A role for inherited metabolic deficits in persistent developmental stuttering
Mol. Genet. Metab. 107 (3), 276-280 (2012)
Kang C and Drayna D.


book

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma
Mol. Genet. Metab. 102 (1), 107-109 (2011)
Gao Y, Yang K, Xu S, Wang C, Liu J, Zhang Z, Yuan M, Luo X, Liu M, Wang QK and Liu JY.


book

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering
N. Engl. J. Med. 362 (8), 677-685 (2010)
Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC and Drayna D.


book

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma
Hum. Mutat. 30 (6), 978-984 (2009)
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M and Beccari T.


book

Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT)
J. Proteome Res. 8 (3), 1304-1314 (2009)
Gonzalez-Begne M, Lu B, Han X, Hagen FK, Hand AR, Melvin JE and Yates JR.


book

Identification of genes related to Parkinson's disease using expressed sequence tags
DNA Res. 13 (6), 275-286 (2006)
Kim JM, Lee KH, Jeon YJ, Oh JH, Jeong SY, Song IS, Kim JM, Lee DS and Kim NS.


book

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
J. Clin. Invest. 105 (5), 673-681 (2000)
Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A and Canfield WM.


book

Mucolipidosis III Gamma
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Raas-Rothschild,A. and Spiegel,R.


book

Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation
Biochem. J. 235 (3), 883-886 (1986)
Ben-Yoseph,Y., Potier,M., Pack,B.A., Mitchell,D.A., Melancon,S.B. and Nadler,H.L.


 
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