Description
| Product Name: | Human SUMF1 Recombinant Protein |
| Product Code: | RPPB4875 |
| Size: | 10µg |
| Species: | Human |
| Target: | SUMF1 |
| Synonyms: | Sulfatase modifying factor 1, FGE, C-alpha-formylglycine-generating enzyme 1, FGly-generating enzyme, UNQ3037, AAPA3037, EC 1.8.99. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | SUMF1 protein solution (0.5mg/ml) containing 20mM Tris-HCl buffer (pH8.0), 2M UREA, 2mM DTT and 20% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 85% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MVPIPAGVFT MGTDDPQIKQ DGEAPARRVT IDAFYMDAYE VSNTEFEKFV NSTGYLTEAE KFGDSFVFEG MLSEQVKTNI QQAVAAAPWW LPVKGANWRH PEGPDSTILH RPDHPVLHVS WNDAVAYCTW AGKRLPTEAE WEYSCRGGLH NRLFPWGNKL QPKGQHYANI WQGEFPVTNT GEDGFQGTAP VDAFPPNGYG LYNIVGNAWE TSDWWTVHH SVEETLNPKG PPSGKDRVKK GGSYMCHRSY CYRYRCAARS QNTPDSSASN LGFRCAADRL PTMD |
SUMF1 is a member of the SUMF family. SUMF1 catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue called C-alpha-formylglycine. Alterations in this gene result in multiple sulfatase deficiency which is a lysosomal storage disorder.
SUMF1 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 304 amino acids (91-374 a.a.) and having a molecular mass of 34.1kDa.SUMF1 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | SUMF1: Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE. Defects in SUMF1 are the cause of multiple sulfatase deficiency (MSD). MSD is a clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Inheritance is autosomal recessive. Belongs to the sulfatase-modifying factor family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Secreted, signal peptide; EC 1.8.99.-; Endoplasmic reticulum; Secreted; Oxidoreductase Chromosomal Location of Human Ortholog: 3p26.1 Cellular Component: endoplasmic reticulum lumen Molecular Function:oxidoreductase activity Biological Process: glycosphingolipid metabolic process; post-translational protein modification Disease: Multiple Sulfatase Deficiency |
| NCBI Summary: | This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] |
| UniProt Code: | Q8NBK3 |
| NCBI GenInfo Identifier: | 62298562 |
| NCBI Gene ID: | 285362 |
| NCBI Accession: | Q8NBK3.3 |
| UniProt Secondary Accession: | Q8NBK3,Q0VAC6, Q0VAC7, Q2NL78, Q53ZE4, Q6UY39, Q96AK5 Q96DK8, B4DXK5, B7XD05, E9PGL0, G5E9B0, |
| UniProt Related Accession: | Q8NBK3 |
| Molecular Weight: | 38,386 Da |
| NCBI Full Name: | Sulfatase-modifying factor 1 |
| NCBI Synonym Full Names: | sulfatase modifying factor 1 |
| NCBI Official Symbol: | SUMF1�� |
| NCBI Official Synonym Symbols: | FGE; UNQ3037; AAPA3037�� |
| NCBI Protein Information: | sulfatase-modifying factor 1 |
| UniProt Protein Name: | Sulfatase-modifying factor 1 |
| UniProt Synonym Protein Names: | C-alpha-formylglycine-generating enzyme 1 |
| Protein Family: | Sulfatase-modifying factor |
| UniProt Gene Name: | SUMF1�� |
| UniProt Entry Name: | SUMF1_HUMAN |
