Anti-EXT1 Antibody (CAB2030)
- SKU:
- CAB2030
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
| 抗体名: | Anti-EXT1 Antibody |
| 抗体コード: | CAB2030 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | WB IF |
| 反応性: | Human, Mouse |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 467-746 of human EXT1 (NP_000118.2). |
| 申し込み: | WB IF |
| 推奨希釈: | WB 1:500 - 1:2000 IF 1:10 - 1:100 |
| 反応性: | Human, Mouse |
| ポジティブサンプル: | K-562, SW480, PC-3, Mouse liver, Mouse lung |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 467-746 of human EXT1 (NP_000118.2). |
| 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: | YYYA NLGL KPPS KFTA VIHA VTPL VSQS QPVL KLLV AAAK SQYC AQII VLWN CDKP LPAK HRWP ATAV PVVV IEGE SKVM SSRF LPYD NIIT DAVL SLDE DTVL STTE VDFA FTVW QSFP ERIV GYPA RSHF WDNS KERW GYTS KWTN DYSM VLTG AAIY HKYY HYLY SHYL PASL KNMV DQLA NCED ILMN FLVS AVTK LPPI KVTQ KKQY KETM MGQT SRAS RWAD PDHF AQRQ SCMN TFAS WFGY MPLI HSQM RLDP VLFK DQVS ILRK KYRD IERL |
| 遺伝子ID: | 2131 |
| Uniprot: | Q16394 |
| セルラーロケーション: | Endoplasmic reticulum membrane, Golgi apparatus membrane, Single-pass type II membrane protein |
| 計算された分子量: | 86kDa |
| 観察された分子量: | 86kDa |
| 同義語: | EXT1, EXT, LGCR, LGS, TRPS2, TTV |
| バックグラウンド: | This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. |
| UniProt Protein Function: | EXT1: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Defects in EXT1 are a cause of hereditary multiple exostoses type 1 (EXT1). EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. Defects in EXT1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2). A syndrome that combines the clinical features of trichorhinophalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Defects in EXT1 are a cause of chondrosarcoma (CHDSA). It is a malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Belongs to the glycosyltransferase 47 family. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Glycan Metabolism - heparan sulfate biosynthesis; Tumor suppressor; Motility/polarity/chemotaxis; EC 2.4.1.225; EC 2.4.1.224; Transferase Chromosomal Location of Human Ortholog: 8q24.11 Cellular Component: Golgi membrane; Golgi apparatus; endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane; integral to endoplasmic reticulum membrane Molecular Function:acetylglucosaminyltransferase activity; transferase activity, transferring glycosyl groups; protein homodimerization activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; protein heterodimerization activity; glucuronosyltransferase activity; metal ion binding; heparan sulfate N-acetylglucosaminyltransferase activity; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Biological Process: glycosaminoglycan biosynthetic process; axon guidance; ossification; cellular polysaccharide biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; glycosaminoglycan metabolic process; olfactory bulb development; carbohydrate metabolic process; heparan sulfate proteoglycan biosynthetic process; protein amino acid glycosylation; gastrulation; pathogenesis; mesoderm development; signal transduction; skeletal development; endoderm development Disease: Chondrosarcoma; Exostoses, Multiple, Type I |
| NCBI Summary: | This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q16394 |
| NCBI GenInfo Identifier: | 20141422 |
| NCBI Gene ID: | 2131 |
| NCBI Accession: | Q16394.2 |
| UniProt Related Accession: | Q16394 |
| Molecular Weight: | ~ 86kDa |
| NCBI Full Name: | Exostosin-1 |
| NCBI Synonym Full Names: | exostosin glycosyltransferase 1 |
| NCBI Official Symbol: | EXT1 |
| NCBI Official Synonym Symbols: | EXT; LGS; TTV; LGCR; TRPS2 |
| NCBI Protein Information: | exostosin-1 |
| UniProt Protein Name: | Exostosin-1 |
| UniProt Synonym Protein Names: | Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 1; Putative tumor suppressor protein EXT1 |
| Protein Family: | Extensin |
| UniProt Gene Name: | EXT1 |
| UniProt Entry Name: | EXT1_HUMAN |
 | Western blot analysis of extracts of various cell lines, using EXT1 antibody (CAB2030) 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. |
 | Immunofluorescence analysis of HeLa cells using EXT1 antibody (CAB2030). Blue: DAPI for nuclear staining. |