Human SUMF1 Recombinant Protein (RPPB4876)

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SKU:
RPPB4876
Product type:
Recombinant Protein
Size:
10ug
Species:
Human
Target:
SUMF1
Synonyms:
SUMF1
Synonyms:
AAPA3037
Synonyms:
FGE
Synonyms:
UNQ3037
Source:
Sf9 Insect cells
Uniprot:
Q8NBK3
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Description

Product Name:Human SUMF1 Recombinant Protein
Product Code:RPPB4876
Size:10µg
Species:Human
Target:SUMF1
Synonyms:SUMF1, AAPA3037, FGE, UNQ3037, Formylglycine-generating enzyme, C-alpha-formylglycine-generating enzyme 1, Sulfatase-modifying factor 1.
Source:Sf9 Insect cells
Physical Appearance:Sterile Filtered colorless solution.
Formulation:SUMF1 protein solution (0.25mg/ml) contains Phosphate Buffered Saline (pH 7.4) and 10% 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 85.0% as determined by SDS-PAGE.
Amino Acid 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 DHHHHHH

SUMF1 is a part of the SUMF protein 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. Mutations in this gene will cause multiple sulfatase deficiency meaning a lysosomal storage disorder.

SUMF1 produced in Sf9 Insect cells is a single, glycosylated polypeptide chain containing  347 amino acids (34-374.a.) and having a molecular mass of  38.1kDa (Molecular size on SDS-PAGE will appear at approximately 40-57kDa). SUMF1 is expressed with a 6 amino acid His tag at C-Terminus and 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
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