Cell Biology Antibodies 8

Anti-EXT1 Antibody (CAB2030)

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SKU:
CAB2030
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Cell Biology

Description

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Antibody Name:Anti-EXT1 Antibody
Antibody SKU:CAB2030
Antibody Size:20uL, 50uL, 100uL
Application:WB IF
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 467-746 of human EXT1 (NP_000118.2).
Application:WB IF
Recommended Dilution:WB 1:500 - 1:2000 IF 1:10 - 1:100
Reactivity:Human, Mouse
Positive Samples:K-562, SW480, PC-3, Mouse liver, Mouse lung
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 467-746 of human EXT1 (NP_000118.2).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence: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
Gene ID:2131
Uniprot:Q16394
Cellular Location:Endoplasmic reticulum membrane, Golgi apparatus membrane, Single-pass type II membrane protein
Calculated MW:86kDa
Observed MW:86kDa
Synonyms:EXT1, EXT, LGCR, LGS, TRPS2, TTV
Background: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
Anti-EXT1 Antibody (CAB2030)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.
Anti-EXT1 Antibody (CAB2030)Immunofluorescence analysis of HeLa cells using EXT1 antibody (CAB2030). Blue: DAPI for nuclear staining.
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