SUMF1

GENE INFORMATION

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Gene name

SUMF1 (HGNC Symbol)

Synonyms

FGE, UNQ3037

Description

Sulfatase modifying factor 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

3

Cytoband

p26.1

Chromosome location (bp)

3742498 - 4508965

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000144455 (version 75.37)

Entrez gene

285362

UniProt

Q8NBK3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NBK3

Antibodypedia

SUMF1 antibodies
 

PROTEIN VIEW

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SUMF1-001
 
SUMF1-002
 
SUMF1-003
 
SUMF1-004
 
SUMF1-005
 
SUMF1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SUMF1-001 ENSP00000272902
ENST00000272902
Q8NBK3
Show all »
Show » Show » 374 40.6 Yes 0
SUMF1-002 ENSP00000384977
ENST00000405420
Q8NBK3
Show all »
Show » Show » 354 38.4 Yes 0
SUMF1-003 ENSP00000410060
ENST00000458465
E9PF05
Show all »
Show » 242 25.7 Yes 0
SUMF1-004 ENSP00000404384
ENST00000448413
F5GXA0
Show all »
Show » 426 46.8 Yes 0
SUMF1-005 ENSP00000373355
ENST00000383843
Q8NBK3
Show all »
Show » Show » 349 37.8 Yes 0
SUMF1-201 ENSP00000440421
ENST00000534863
F5GXA0
Show all »
Show » 426 46.8 Yes 0