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sulfatase modifying factor 1

Summary

Gene Symbol

SUMF1

Aliases

FGE
UNQ3037

Organism

Homo sapiens (human)

External Links

NCBI Gene

285362

HGNC

20376

KEGG Gene ID

hsa:285362

PubChem

285362

Alliance of Genome Resources

HGNC:20376

Annotation

Keyword

3D-structure
Alternative splicing
Calcium
Copper
Direct protein sequencing
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Ichthyosis
Metachromatic leukodystrophy
Metal-binding
Mucopolysaccharidosis
Oxidoreductase
Reference proteome
Signal

Proteins

Displaying 1 entry
UniProt	Protein Name
Q8NBK3	C-alpha-formylglycine-generating enzyme 1 Sulfatase-modifying factor 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
glycosphingolipid catabolic process
post-translational protein modification	IDA TAS	21224894 25931126
protein oxidation	IDA	21224894 25931126

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

protein metabolic process [inference]

protein modification process [inference]

organonitrogen compound catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

catabolic process [inference]

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

organonitrogen compound catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular metabolic process [inference]

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

protein metabolic process [inference]

protein modification process [inference]

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

macromolecule modification [inference]

protein modification process [inference]

carbohydrate derivative metabolic process [inference]

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

protein metabolic process [inference]

protein modification process [inference]

organonitrogen compound catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

carbohydrate derivative catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

organonitrogen compound catabolic process [inference]

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular process [inference]

cellular metabolic process [inference]

cellular catabolic process [inference]

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

cellular lipid catabolic process [inference]

membrane lipid catabolic process [inference]

glycolipid catabolic process [inference]

glycosphingolipid catabolic process

sphingolipid catabolic process [inference]

glycosphingolipid catabolic process

Displaying **all 2** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum lumen
endoplasmic reticulum	IBA IDA	18266766 21224894

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 5** entries
GO Term	Evidence Code	PMID
oxidoreductase activity
cupric ion binding	IDA	25931126
formylglycine-generating oxidase activity	IDA	21224894 25931126
protein binding	IPI	15962010
identical protein binding	IPI	15962010

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity

oxidoreductase activity, acting on a sulfur group of donors [inference]

oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor [inference]

formylglycine-generating oxidase activity

binding [inference]

protein binding

identical protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

copper ion binding [inference]

cupric ion binding

sulfur compound binding [inference]

cupric ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000144455

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K13444

Name

formylglycine-generating enzyme [EC:1.8.3.7]

References

Rhea

O₂ + a thiol

H₂O + H⁺ + hydrogen sulfide + an organic disulfide

Enzyme

1.8.3.7

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 53 in total

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DO ID	Disease Name	Source
DOID:0050441	mucosulfatidosis	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060215	Balo concentric sclerosis	DisGeNET
DOID:0060292	X-linked chondrodysplasia punctata 1	DisGeNET
DOID:0060293	autosomal dominant chondrodysplasia punctata	DisGeNET
DOID:0080029	autosomal recessive spinocerebellar ataxia 16	DisGeNET
DOID:0110851	rhizomelic chondrodysplasia punctata type 1	DisGeNET
DOID:0110852	rhizomelic chondrodysplasia punctata type 2	DisGeNET
DOID:0110853	rhizomelic chondrodysplasia punctata type 3	DisGeNET
DOID:0111390	mucopolysaccharidosis Ih	DisGeNET
DOID:0111391	mucopolysaccharidosis IVA	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 50 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000319	Smooth philtrum
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000463	Anteverted nares
HP:0000505	Visual impairment

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:585	mucosulfatidosis
OMIM:272200	mucosulfatidosis

PubChem Disease

GHR Health Conditions

Multiple sulfatase deficiency

MedGen Diseases

Multiple sulfatase deficiency

OMIM Phenotypes

MULTIPLE SULFATASE DEFICIENCY; MSD

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **61 - 65** of 65 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Equus asinus asinus	106848461		EQUAS01093
Salarias fasciatus	115388637		SALFA36065
Propithecus coquereli	105812727		PROCO19879
Nannospalax galili	103751201		NANGA07498
Carlito syrichta	103263067		CARSF22071

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.0.0

Last updated: August 19, 2024