InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SUMF1

Summary

InnateDB Protein

IDBP-14011.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SUMF1

Protein Name

sulfatase modifying factor 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000272902

InnateDB Gene

IDBG-14007 (SUMF1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12757706, ECO:0000269PubMed:15657036}.

Subcellular Localization

Endoplasmic reticulum lumen {ECO:0000269PubMed:15657036, ECO:0000269PubMed:15962010}.

Disease Associations

Multiple sulfatase deficiency (MSD) [MIM:272200]: 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. {ECO:0000269PubMed:12757705, ECO:0000269PubMed:12757706, ECO:0000269PubMed:15146462}. Note=The disease is caused by mutations affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases.

Tissue Specificity

Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart. {ECO:0000269PubMed:15962010}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0016491	oxidoreductase activity
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding

Biological Process

GO:0006665	sphingolipid metabolic process
GO:0006687	glycosphingolipid metabolic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process