Version 5.4
Homo sapiens Gene: SUMF1
Summary
InnateDB Gene IDBG-14007.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SUMF1
Gene Name sulfatase modifying factor 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000144455
Encoded Proteins
IDBP-14011
sulfatase modifying factor 1
IDBP-14013
sulfatase modifying factor 1
IDBP-292459
sulfatase modifying factor 1
IDBP-360794
sulfatase modifying factor 1
IDBP-360795
sulfatase modifying factor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:3700814-4467281
Strand Reverse strand
Band p26.1
Transcripts
ENST00000272902 ENSP00000272902
ENST00000383843 ENSP00000373355
ENST00000405420 ENSP00000384977
ENST00000448413 ENSP00000404384
ENST00000458465 ENSP00000410060
ENST00000470751
ENST00000469888
ENST00000484993
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
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030101
View Gene Order
ENSBTAG00000039855
Not yet available
Pathways
NETPATH
REACTOME
REACT_121036
The activation of arylsulfatases pathway
REACT_116105
Glycosphingolipid metabolism pathway
REACT_19323
Sphingolipid metabolism pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_22161
Post-translational protein modification pathway
REACT_1069
PTM: gamma carboxylation, hypusine formation and arylsulfatase activation pathway
REACT_17015
Metabolism of proteins pathway
REACT_111217
Metabolism pathway
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.350475 Hs.665943
RefSeq NM_001164674 NM_001164675 NM_182760 XM_006713118
HUGO
OMIM
CCDS CCDS2564 CCDS54548 CCDS54549
HPRD 06399
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca