GNPTAB cdna clone
GNPTAB cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
Uniprot Description
GNPTAB: Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. Defects in GNPTAB are the cause of mucolipidosis type II (MLII); also known as inclusion cell disease or I- cell disease (ICD). MLII is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. Defects in GNPTAB are the cause of mucolipidosis type III complementation group A (MLIIIA); also known as variant pseudo-Hurler polydystrophy. MLIIIA is an autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. Belongs to the stealth family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; EC 2.7.8.17; Transferase
Chromosomal Location of Human Ortholog: 12q23.2
Cellular Component: Golgi membrane; Golgi apparatus; integral to membrane; nucleus
Molecular Function: UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; calcium ion binding; transcription factor binding
Biological Process: lysosome organization and biogenesis; carbohydrate phosphorylation; protein secretion; cell differentiation
Disease: Mucolipidosis Iii Alpha/beta; Mucolipidosis Ii Alpha/beta
Research Articles on GNPTAB
Similar Products
Product Notes
The GNPTAB gnptab (Catalog #AAA1276821) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGCTGTTCA AGCTCCTGCA GAGACAGACC TATACCTGCC TGTCCCACAG GTATGGGCTC TACGTGTGCT TCTTGGGCGT CGTTGTCACC ATCGTCTCCG CCTTCCAGTT CGGAGAGGTG GTTCTGGAAT GGAGCCGAGA TCAATACCAT GTTTTGTTTG ATTCCTATAG AGACAATATT GCTGGAAAGT CCTTTCAGAA TCGGCTTTGT CTGCCCATGC CGATTGACGT TGTTTACACC TGGGTGAATG GCACAGATCT TGAACTACTG AAGGAACTAC AGCAGGTCAG AGAACAGATG GAGGAGGAGC AGAAAGCAAT GAGAGAAATC CTTGGGAAAA ACACAACGGA ACCTACTAAG AAGAGTGAGA AGCAGTTAGA GTGTTTGCTA ACACACTGCA TTAAGGTGCC AATGCTTGTC CTGGACCCAG CCCTGCCAGC CAACATCACC CTGAAGGACC TGCCATCTCT TTATCCTTCT TTTCATTCTG CCAGTGACAT TTTCAATGTT GCAAAACCAA AAAACCCTTC TACCAATGTC TCAGTTGTTG TTTTTGACAG TACTAAGGAT GTTGAAGATG CCCACTCTGG ACTGCTTAAA GGAAATAGCA GACAGACAGT ATGGAGGGGC TACTTGACAA CAGATAAAGA AGTCCCTGGA TTAGTGCTAA TGCAAGATTT GGCTTTCCTG AGTGGATTTC CACCAACATT CAAGGAAACA AATCAACTAA AAACAAAATT GCCAGAAAAT CTTTCCTCTA AAGTCAAACT GTTGCAGTTG TATTCAGAGG CCAGTGTAGC GCTTCTAAAA CTGAATAACC CCAAGGATTT TCAAGAATTG AATAAGCAAA CTAAGAAGAA CATGACCATT GATGGAAAAG AACTGACCAT AAGTCCTGCA TATTTATTAT GGGATCTGAG CGCCATCAGC CAGTCTAAGC AGGATGAAGA CATCTCTGCC AGTCGTTTTG AAGATAACGA AGAACTGAGG TACTCATTGC GATCTATCGA GAGGCATGCA CCATGGGTTC GGAATATTTT CATTGTCACC AACGGGCAGA TTCCATCCTG GCTGAACCTT GACAATCCTC GAGTGACAAT AGTAACACAC CAGGATGTTT TTCGAAATTT GAGCCACTTG CCTACCTTTA GTTCACCTGC TATTGAAAGT CACATTCATC GCATCGAAGG GCTGTCCCAG AAGTTTATTT ACCTAAATGA TGATGTCATG TTTGGGAAGG ATGTCTGGCC AGATGATTTT TACAGTCACT CCAAAGGCCA GAAGGTTTAT TTGACATGGC CTGTGCCAAA CTGTGCCGAG GGCTGCCCAG GTTCCTGGAT TAAGGATGGC TATTGTGACA AGGCTTGTAA TAATTCAGCC TGCGATTGGG ATGGTGGGGA TTGCTCTGGA AACAGTGGAG GGAGTCGCTA TATTGCAGGA GGTGGAGGTA CTGGGAGTAT TGGAGTTGGA CAGCCCTGGC AGTTTGGTGG AGGAATAAAC AGTGTCTCTT ACTGTAATCA GGGATGTGCG AATTCCTGGC TCGCTGATAA GTTCTGTGAC CAAGCATGCA ATGTCTTGTC CTGTGGGTTT GATGCTGGCG ACTGTGGGCA AGATCATTTT CATGAATTGT ATAAAGTGAT CCTTCTCCCA AACCAGACTC ACTATATTAT TCCAAAAGGT GAATGCCTGC CTTATTTCAG CTTTGCAGAA GTAGCCAAAA GAGGAGTTGA AGGTGCCTAT AGTGACAATC CAATAATTCG ACATGCTTCT ATTGCCAACA AGTGGAAAAC CATCCACCTC ATAATGCACA GTGGAATGAA TGCCACCACA ATACATTTTA ATCTCACGTT TCAAAATACA AACGATGAAG AGTTCAAAAT GCAGATAACA GTGGAGGTGG ACACAAGGGA GGGACCAAAA CTGAATTCTA CGGCCCAGAA GGGTTACGAA AATTTAGTTA GTCCCATAAC ACTTCTTCCA GAGGCGGAAA TCCTTTTTGA GGATATTCCC AAAGAAAAAC GCTTCCCGAA GTTTAAGAGA CATGATGTTA ACTCAACAAG GAGAGCCCAG GAAGAGGTGA AAATTCCCCT GGTAAATATT TCACTCCTTC CAAAAGACGC CCAGTTGAGT CTCAATACCT TGGATTTGCA ACTGGAACAT GGAGACATCA CTTTGAAAGG ATACAATTTG TCCAAGTCAG CCTTGCTGAG ATCATTTCTG ATGAACTCAC AGCATGCTAA AATAAAAAAT CAAGCTATAA TAACAGATGA AACAAATGAC AGTTTGGTGG CTCCACAGGA AAAACAGGTT CATAAAAGCA TCTTGCCAAA CAGCTTAGGA GTGTCTGAAA GATTGCAGAG GTTGACTTTT CCTGCAGTGA GTGTAAAAGT GAATGGTCAT GACCAGGGTC AGAATCCACC CCTGGACTTG GAGACCACAG CAAGATTTAG AGTGGAAACT CACACCCAAA AAACCATAGG CGGAAATGTG ACAAAAGAAA AGCCCCCATC TCTGATTGTT CCACTGGAAA GCCAGATGAC AAAAGAAAAG AAAATCACAG GGAAAGAAAA AGAGAACAGT AGAATGGAGG AAAATGCTGA AAATCACATA GGCGTTACTG AAGTGTTACT TGGAAGAAAG CTGCAGCATT ACACAGATAG TTACTTGGGC TTTTTGCCAT GGGAGAAAAA AAAGTATTTC CAAGATCTTC TCGACGAAGA AGAGTCATTG AAGACACAAT TGGCATACTT CACTGATAGC AAAAATACTG GGAGGCAACT AAAAGATACA TTTGCAGATT CCCTCAGATA TGTAAATAAA ATTCTAAATA GCAAGTTTGG ATTCACATCG CGGAAAGTCC CTGCTCACAT GCCTCACATG ATTGACCGGA TTGTTATGCA AGAACTGCAA GATATGTTCC CTGAAGAATT TGACAAGACG TCATTTCACA AAGTGCGCCA TTCTGAGGAT ATGCAGTTTG CCTTCTCTTA TTTTTATTAT CTCATGAGTG CAGTGCAGCC ACTGAATATA TCTCAAGTCT TTGATGAAGT TGATACAGAT CAATCTGGTG TCTTGTCTGA CAGAGAAATC CGAACACTGG CTACCAGAAT TCACGAACTG CCGTTAAGTT TGCAGGATTT GACAGGTCTG GAACACATGC TAATAAATTG CTCAAAAATG CTTCCTGCTG ATATCACGCA GCTAAATAAT ATTCCACCAA CTCAGGAATC CTACTATGAT CCCAACCTGC CACCGGTCAC TAAAAGTCTA GTAACAAACT GTAAACCAGT AACTGACAAA ATCCACAAAG CATATAAGGA CAAAAACAAA TATAGGTTTG AAATCATGGG AGAAGAAGAA ATCGCTTTTA AAATGATTCG TACCAACGTT TCTCATGTGG TTGGCCAGTT GGATGACATA AGAAAAAACC CTAGGAAGTT TGTTTGCCTG AATGACAACA TTGACCACAA TCATAAAGAT GCTCAGACAG TGAAGGCTGT TCTCAGGGAC TTCTATGAAT CCATGTTCCC CATACCTTCC CAATTTGAAC TGCCAAGAGA GTATCGAAAC CGTTTCCTTC ATATGCATGA GCTGCAGGAA TGGAGGGCTT ATCGAGACAA ATTGAAGTTT TGGACCCATT GTGTACTAGC AACATTGATT ATGTTTACTA TATTCTCATT TTTTGCTGAG CAGTTAATTG CACTTAAGCG GAAGATATTT CCCAGAAGGA GGATACACAA AGAAGCTAGT CCCAATCGAA TCAGAGTATA G. It is sometimes possible for the material contained within the vial of "GNPTAB, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
