Entity Details

Primary name SUMF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NBK3
EntryNameSUMF1_HUMAN
FullNameFormylglycine-generating enzyme
TaxID9606
Evidenceevidence at protein level
Length374
SequenceStatuscomplete
DateCreated2003-07-25
DateModified2021-06-02

Ontological Relatives

GenesSUMF1

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0006687 glycosphingolipid metabolic process
GO:0018158 protein oxidation
GO:0042802 identical protein binding
GO:0043687 post-translational protein modification
GO:0120147 Formylglycine-generating oxidase activity
GO:1903135 cupric ion binding

Subcellular Location

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Subcellular Location
Endoplasmic reticulum lumen

Domains

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DomainNameCategoryType
IPR005532 Sulfatase-modifying factor enzymeDomainDomain
IPR016187 C-type lectin foldFamilyHomologous superfamily
IPR042095 Sulfatase-modifying factor enzyme superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
272200 OMIMMultiple sulfatase deficiency (MSD)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. The disease is caused by variants affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases.

Interactions

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