Sulfatase Modifying Factor 1/SUMF1 Recombinant Protein | SUMF1 recombinant protein

Recombinant Sulfatase Modifying Factor 1/SUMF1

Cat. Num. AAA201158

• Gene Names: SUMF1; FGE; UNQ3037; AAPA3037
• Applications: SDS-Page
• Purity: >85% by SDS-PAGE
• Synonyms: Sulfatase Modifying Factor 1/SUMF1; Recombinant Sulfatase Modifying Factor 1/SUMF1; SUMF1; AAPA3037; FGE; UNQ3037; Formylglycine-generating enzyme; C-alpha-formylglycine-generating enzyme 1; Sulfatase-modifying factor 1; SUMF1 recombinant protein

• Host: Baculovirus
• Purity/Purification: >85% by SDS-PAGE
• Form/Format: Liquid; In Phosphate Buffered Saline (pH 7.4) Containing 10% Glycerol.
• Concentration: 0.25mg/ml (determined by Absorbance at 280nm) (varies by lot)
• Sequence Positions: 34-374aa
• Sequence: SQEAGTGAGA GSLAGSCGCG TPQRPGAHGS SAAAHRYSRE ANAPGPVPGE RQLAHSKMVP IPAGVFTMGT DDPQIKQDGE APARRVTIDA FYMDAYEVSN TEFEKFVNST GYLTEAEKFG DSFVFEGMLS EQVKTNIQQA VAAAPWWLPV KGANWRHPEG PDSTILHRPD HPVLHVSWND AVAYCTWAGK RLPTEAEWEY SCRGGLHNRL FPWGNKLQPK GQHYANIWQG EFPVTNTGED GFQGTAPVDA FPPNGYGLYN IVGNAWEWTS DWWTVHHSVE ETLNPKGPPS GKDRVKKGGS YMCHRSYCYR YRCAARSQNT PDSSASNLGF RCAADRLPTM D HHHHHH
• Sequence Length: 349

• Applicable Applications for SUMF1 recombinant protein: SDS-PAGE
• Species: Human
• Endotoxin: <1 EU per 1ug of protein (determined by LAL method)
• Tag: His-Tag
• Predicted N-Terminal: Ser 34
• Preparation and Storage: Can be stored at 2 degree C to 8 degree C for 1 week. For long term storage, aliquot and store at -20 degree C to -80 degree C. Avoid repeated freezing and thawing cycles.

SDS-Page

(3ug by SDS-PAGE under reducing condition and visualized by coomassie blue stain )

Related Product Information for SUMF1 recombinant protein

SUMF1, also known as sulfatase-modifying factor 1 isoform 1, is a Ca2+-binging member of the sulfatase-modifying factor family. This protein as soluble ER lumenal glycoprotein converts inactive sulfatases into an active form by transforming a catalytic site cysteine into a formylglycine residue. In the ER, it can exist as either a monomer, or a disulfide-linked homodimer or a heterodimer with SUMF2. The genetic defect of FGly formation caused by mutations in the SUMF1 gene results in inactive FGE, and subsequently multiple sulfatase deficiency, a lysosomal storage disorder. Recombinant Human SUMF1, fused to His-tag at C-terminus, was expressed in insect cell and purified by using conventional chromatography techniques.

Product Categories/Family for SUMF1 recombinant protein

Cytoskeleton; Development; Differentiation & Regeneration; Enzymes & Proteases; Epigenetics and Nuclear Signaling; Epigenomics (Transcription & Translation); Fusion Tag & Detection; Glycobiology; Growth factors; Heat Shock Proteins; Histone Related; Homeo

References

Preusser-Kunze A., et al, (2005) J. Biol. Chem. 280:14900-14910. Zito E., et al, (2005) EMBO Rep. 6:655-660.

NCBI and Uniprot Product Information

• NCBI GI #: 257470975
• NCBI GeneID: 285362
• NCBI Accession #: NP_001158146.1
• NCBI GenBank Nucleotide #: NP_001158146.1
• UniProt Accession #: Q8NBK3
• Molecular Weight: 38.1kDa (347aa)
• NCBI Official Full Name: formylglycine-generating enzyme isoform 2
• NCBI Official Synonym Full Names: sulfatase modifying factor 1
• NCBI Official Symbol: SUMF1
• NCBI Official Synonym Symbols: FGE; UNQ3037; AAPA3037
• NCBI Protein Information: formylglycine-generating enzyme
• UniProt Protein Name: Sulfatase-modifying factor 1
• Protein Family: Sulfatase-modifying factor
• UniProt Gene Name: SUMF1
• UniProt Synonym Gene Names: FGE
• UniProt Entry Name: SUMF1_HUMAN

NCBI Description

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 Description

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.

Protein type: EC 1.8.99.-; Secreted, signal peptide; Oxidoreductase; Endoplasmic reticulum; Secreted

Chromosomal Location of Human Ortholog: 3p26.1

Cellular Component: endoplasmic reticulum lumen

Molecular Function: protein homodimerization activity; metal ion binding; oxidoreductase activity

Biological Process: sphingolipid metabolic process; cellular protein metabolic process; glycosphingolipid metabolic process; post-translational protein modification

Disease: Multiple Sulfatase Deficiency