• Gene id: 285362

Gene Summary

• Gene Symbol: SUMF1   Gene   UCSC   Ensembl
• Aliases: AAPA3037, FGE, UNQ3037
• Gene name: sulfatase modifying factor 1
• Alternate names: formylglycine-generating enzyme, C-alpha-formylglycine-generating enzyme 1, FGly-generating enzyme,
• Gene location: 3p26.1 (4467281: 4034713)     Exons: 15     NC_000003.12
• Gene summary(Entrez): 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 multi
• OMIM: 615740

Protein Summary

• Protein general information: Q8NBK3  
  • Name: Formylglycine generating enzyme (FGE) (EC 1.8.3.7) (C alpha formylglycine generating enzyme 1) (Sulfatase modifying factor 1)
  • Length: 374  
  • Mass: 40556
  • 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
• Sequence:

  MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREAN
  APGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAE
  KFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRL
  PTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWE
  WTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD

• Structural information:
  • Interpro: IPR016187  IPR005532  IPR042095  
  • PDB: 1Y1E 1Y1F 1Y1G 1Y1H 1Y1I 1Y1J 1Z70 2AFT 2AFY 2AII 2AIJ 2AIK 2HI8 2HIB
  • PDBsum: 1Y1E 1Y1F 1Y1G 1Y1H 1Y1I 1Y1J 1Z70 2AFT 2AFY 2AII 2AIJ 2AIK 2HI8 2HIB
  • STRING: ENSP00000272902
• Other Databases: GeneCards:  SUMF1  Malacards:  SUMF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043687	post-translational protein modification	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043687	post-translational protein modification	IDA	biological process
GO:0018158	protein oxidation	IDA	biological process
GO:0120147	Formylglycine-generating oxidase activity	IDA	molecular function
GO:1903135	cupric ion binding	IDA	molecular function
GO:0018158	protein oxidation	IDA	biological process
GO:0120147	Formylglycine-generating oxidase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0120147	Formylglycine-generating oxidase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	TAS	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Sphingolipidosis	KEGG:H00423
Multiple sulfatase deficiency	KEGG:H00272
Sphingolipidosis	KEGG:H00423
Multiple sulfatase deficiency	KEGG:H00272
Sphingolipidosis	PMID:12757705
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray