Anti-GNPTAB Antibody (CAB15895)
- SKU:
- CAB15895
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
| 抗体名: | Anti-GNPTAB Antibody |
| 抗体コード: | CAB15895 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | WB |
| 反応性: | Human |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 42-350 of human GNPTAB (NP_077288.2). |
| 申し込み: | WB |
| 推奨希釈: | WB 1:500 - 1:2000 |
| 反応性: | Human |
| ポジティブサンプル: | LO2, 293T |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 42-350 of human GNPTAB (NP_077288.2). |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | LEWS RDQY HVLF DSYR DNIA GKSF QNRL CLPM PIDV VYTW VNGT DLEL LKEL QQVR EQME EEQK AMRE ILGK NTTE PTKK SEKQ LECL LTHC IKVP MLVL DPAL PANI TLKD LPSL YPSF HSAS DIFN VAKP KNPS TNVS VVVF DSTK DVED AHSG LLKG NSRQ TVWR GYLT TDKE VPGL VLMQ DLAF LSGF PPTF KETN QLKT KLPE NLSS KVKL LQLY SEAS VALL KLNN PKDF QELN KQTK KNMT IDGK ELTI SPAY LLWD LSAI SQSK QDED ISAS RFED NEEL RYSL RSIE RHAP WVRN IFIV T |
| 遺伝子ID: | 79158 |
| Uniprot: | Q3T906 |
| セルラーロケーション: | Golgi apparatus membrane, Single-pass type I membrane protein, Single-pass type II membrane protein |
| 計算された分子量: | 55kDa/143kDa |
| 観察された分子量: | 144kDa |
| 同義語: | GNPTAB, GNPTA, ICD |
| バックグラウンド: | 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. |
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:EC 2.7.8.17; Transferase; Membrane protein, integral 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 |
| NCBI Summary: | 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 Code: | Q3T906 |
| NCBI GenInfo Identifier: | 33990967 |
| NCBI Gene ID: | 79158 |
| NCBI Accession: | BC002779 |
| UniProt Secondary Accession: | Q3T906,Q3ZQK2, Q6IPW5, Q86TQ2, Q96N13, Q9ULL2, A2RRQ9 |
| UniProt Related Accession: | Q3T906 |
| Molecular Weight: | 143,622 Da |
| NCBI Full Name: | Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits, mRNA |
| NCBI Synonym Full Names: | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits |
| NCBI Official Symbol: | GNPTAB |
| NCBI Official Synonym Symbols: | ICD; GNPTA |
| NCBI Protein Information: | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; stealth protein GNPTAB; GlcNAc phosphotransferase; glcNAc-1-phosphotransferase subunits alpha/beta; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase |
| UniProt Protein Name: | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
| UniProt Synonym Protein Names: | GlcNAc-1-phosphotransferase subunits alpha/beta; Stealth protein GNPTAB; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
| Protein Family: | N-acetylglucosamine-1-phosphotransferase |
| UniProt Gene Name: | GNPTAB |
| UniProt Entry Name: | GNPTA_HUMAN |
 | Western blot analysis of extracts of various cell lines, using GNPTAB antibody (CAB15895) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Enhanced Kit (RM00021). Exposure time: 90s. |
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