SUMF1

Functionⁱ

Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756, PubMed:21224894). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15907468, PubMed:15657036).6 Publications

Miscellaneous

The resulting 3-oxoalanine in the substrate protein is called C(alpha)-formylglycine by many authors. It should not be confused with N-formylglycine.

Caution

The disulfide bond observed in the structure does not exist in vivo (PubMed:15907468). The enzyme reaction was initially thought to act via a redox-active disulfide bond mechanism; however the disulfide bond only takes place with inactive enzyme that lacks the copper cofactor (PubMed:25931126). The catalytic copper is required to activate oxygen and catalyze oxidative C-H activation (PubMed:25931126).2 Publications

Catalytic activityⁱ

A [sulfatase]-L-cysteine + O₂ + 2 a thiol = a [sulfatase]-3-oxo-L-alanine + hydrogen sulfide + a disulfide + H₂O.2 Publications

Cofactorⁱ

Cu²⁺1 PublicationNote: The catalytic copper is required to activate oxygen and catalyze oxidative C-H activation.1 Publication

Kineticsⁱ

Kcat is 6.06 min(-1) with [sulfatase]-L-cysteine as substrate.1 Publication

K_M=
0.34 µM for [sulfatase]-L-cysteine
1 Publication
Manual assertion based on experiment inⁱ
- Ref.16
  "Reconstitution of formylglycine-generating enzyme with copper(II) for aldehyde tag conversion."
  Holder P.G., Jones L.C., Drake P.M., Barfield R.M., Banas S., de Hart G.W., Baker J., Rabuka D.
  J. Biol. Chem. 290:15730-15745(2015) [PubMed] [Europe PMC] [Abstract]
  Cited for: FUNCTION, PATHWAY, BIOPHYSICOCHEMICAL PROPERTIES, CATALYTIC ACTIVITY, COFACTOR.

Pathwayⁱ: sulfatase oxidation

This protein is involved in the pathway sulfatase oxidation, which is part of Protein modification.4 Publications
View all proteins of this organism that are known to be involved in the pathway sulfatase oxidation and in Protein modification.

Sites

Feature key	Position(s)	DescriptionActions	Length
Metal bindingⁱ	130	Calcium 21 Publication	1
Metal bindingⁱ	259	Calcium 11 Publication	1
Metal bindingⁱ	260	Calcium 1; via carbonyl oxygen1 Publication	1
Metal bindingⁱ	273	Calcium 11 Publication	1
Metal bindingⁱ	275	Calcium 1; via carbonyl oxygen1 Publication	1
Metal bindingⁱ	293	Calcium 2; via carbonyl oxygen1 Publication	1
Metal bindingⁱ	296	Calcium 2; via carbonyl oxygen1 Publication	1
Metal bindingⁱ	298	Calcium 2; via carbonyl oxygen1 Publication	1
Metal bindingⁱ	300	Calcium 21 Publication	1
Metal bindingⁱ	336	Copper(2+); catalytic1 Publication	1
Metal bindingⁱ	341	Copper(2+); catalytic1 Publication	1

GO - Molecular functionⁱ

cupric ion binding
Source: UniProtKB
Inferred from direct assayⁱ
- 25931126
Formylglycine-generating oxidase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 21224894
- 25931126
oxidoreductase activity Source: Reactome
protein homodimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

glycosphingolipid metabolic process Source: Reactome
post-translational protein modification
Source: UniProtKB
Inferred from direct assayⁱ
- 21224894
- 25931126
protein oxidation
Source: UniProtKB
Inferred from direct assayⁱ
- 21224894
- 25931126

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Oxidoreductase
Ligand	Calcium, Copper, Metal-binding

Enzyme and pathway databases

BioCycⁱ	MetaCyc:ENSG00000144455-MONOMER
Reactomeⁱ	R-HSA-1660662 Glycosphingolipid metabolism R-HSA-1663150 The activation of arylsulfatases
UniPathwayⁱ	UPA00910

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Formylglycine-generating enzyme1 Publication (EC:1.8.3.72 Publications) Short name: FGE1 Publication Alternative name(s): C-alpha-formylglycine-generating enzyme 11 Publication Sulfatase-modifying factor 11 Publication
Gene namesⁱ	Name:SUMF11 PublicationImported ORF Names:PSEC01521 Publication, UNQ3037/PRO98521 Publication
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 3

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000144455.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:20376 SUMF1
MIMⁱ	607939 gene
neXtProtⁱ	NX_Q8NBK3

Keywords - Cellular componentⁱ

Endoplasmic reticulum

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Multiple sulfatase deficiency (MSD)5 Publications

The disease is caused by mutations affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases.1 Publication

Disease descriptionA 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.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	333	S → A: Loss of activity. 1 Publication	1
Mutagenesisⁱ	333	S → T: Reduces activity by 99%. 1 Publication	1
Mutagenesisⁱ	336	C → S: Loss of activity. 1 Publication	1
Mutagenesisⁱ	337	H → A: Reduces activity 5-fold. 1 Publication	1
Mutagenesisⁱ	340	Y → F: No effect. 1 Publication	1
Mutagenesisⁱ	341	C → S: Loss of activity. 1 Publication	1

Keywords - Diseaseⁱ

Disease mutation, Ichthyosis, Leukodystrophy, Metachromatic leukodystrophy, Mucopolysaccharidosis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	285362
MalaCards human disease database More...MalaCardsⁱ	SUMF1
MIMⁱ	272200 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000144455
Orphanetⁱ	585 Multiple sulfatase deficiency
PharmGKBⁱ	PA134977552

Polymorphism and mutation databases

BioMutaⁱ	SUMF1
DMDMⁱ	62298562

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 33	1 PublicationAdd BLAST		33
ChainⁱPRO_0000033456	34 – 374	Formylglycine-generating enzymeAdd BLAST		341

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Disulfide bondⁱ	50 ↔ 52	2 Publications
Glycosylationⁱ	141	N-linked (GlcNAc...) asparagine3 Publications	1
Disulfide bondⁱ	218 ↔ 365	2 Publications
Disulfide bondⁱ	235 ↔ 346	2 Publications

Post-translational modificationⁱ

N-glycosylated. Contains high-mannose-type oligosaccharides.3 Publications

Keywords - PTMⁱ

Disulfide bond, Glycoprotein

Proteomic databases

EPDⁱ	Q8NBK3
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q8NBK3
PaxDbⁱ	Q8NBK3
PeptideAtlas More...PeptideAtlasⁱ	Q8NBK3
PRIDEⁱ	Q8NBK3
ProteomicsDBⁱ	72786 72787 [Q8NBK3-2] 72788 [Q8NBK3-3]

PTM databases

GlyConnectⁱ	1772
iPTMnetⁱ	Q8NBK3
PhosphoSitePlusⁱ	Q8NBK3

Expressionⁱ

Tissue specificityⁱ

Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000144455 Expressed in 209 organ(s), highest expression level in metanephros
CleanExⁱ	HS_SUMF1
ExpressionAtlasⁱ	Q8NBK3 baseline and differential
Genevisibleⁱ	Q8NBK3 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA038025

HPAⁱ

HPA038025

Interactionⁱ

Subunit structureⁱ

Monomer, homodimer and heterodimer with SUMF2.3 Publications

GO - Molecular functionⁱ

protein homodimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	130091, 19 interactors
IntActⁱ	Q8NBK3, 4 interactors
Molecular INTeraction database More...MINTⁱ	Q8NBK3
STRINGⁱ	9606.ENSP00000272902

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	91 – 94	Combined sources	4
Beta strandⁱ	97 – 102	Combined sources	6
Helixⁱ	109 – 111	Combined sources	3
Beta strandⁱ	117 – 121	Combined sources	5
Beta strandⁱ	124 – 129	Combined sources	6
Helixⁱ	133 – 143	Combined sources	11
Helixⁱ	148 – 152	Combined sources	5
Beta strandⁱ	154 – 158	Combined sources	5
Helixⁱ	159 – 161	Combined sources	3
Beta strandⁱ	180 – 184	Combined sources	5
Helixⁱ	211 – 220	Combined sources	10
Helixⁱ	228 – 236	Combined sources	9
Helixⁱ	252 – 254	Combined sources	3
Turnⁱ	265 – 267	Combined sources	3
Beta strandⁱ	293 – 305	Combined sources	13
Beta strandⁱ	315 – 317	Combined sources	3
Beta strandⁱ	325 – 331	Combined sources	7
Turnⁱ	338 – 340	Combined sources	3
Beta strandⁱ	350 – 352	Combined sources	3
Beta strandⁱ	366 – 369	Combined sources	4

Show more details

3D structure databases

ProteinModelPortalⁱ	Q8NBK3
SMRⁱ	Q8NBK3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q8NBK3

EvolutionaryTraceⁱ

Q8NBK3

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	341 – 360	Interaction with sulfatases1 PublicationAdd BLAST		20

Sequence similaritiesⁱ

Belongs to the sulfatase-modifying factor family.Curated

Keywords - Domainⁱ

Signal

Phylogenomic databases

eggNOGⁱ	ENOG410IEYZ Eukaryota COG1262 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000008983
HOGENOMⁱ	HOG000135466
HOVERGENⁱ	HBG054193
InParanoidⁱ	Q8NBK3
KEGG Orthology (KO) More...KOⁱ	K13444
OMAⁱ	KLFPWGN
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0DD2
PhylomeDBⁱ	Q8NBK3
TreeFamⁱ	TF324027

Family and domain databases

InterProⁱ	View protein in InterPro IPR016187 CTDL_fold IPR005532 SUMF_dom
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF03781 FGE-sulfatase, 1 hit
SUPFAMⁱ	SSF56436 SSF56436, 1 hit

Sequences (5+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q8NBK3-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAPALGLVC GRCPELGLVL LLLLLSLLCG AAGSQEAGTG AGAGSLAGSC 
        60         70         80         90        100
GCGTPQRPGA HGSSAAAHRY SREANAPGPV PGERQLAHSK MVPIPAGVFT 
       110        120        130        140        150
MGTDDPQIKQ DGEAPARRVT IDAFYMDAYE VSNTEFEKFV NSTGYLTEAE 
       160        170        180        190        200
KFGDSFVFEG MLSEQVKTNI QQAVAAAPWW LPVKGANWRH PEGPDSTILH 
       210        220        230        240        250
RPDHPVLHVS WNDAVAYCTW AGKRLPTEAE WEYSCRGGLH NRLFPWGNKL 
       260        270        280        290        300
QPKGQHYANI WQGEFPVTNT GEDGFQGTAP VDAFPPNGYG LYNIVGNAWE 
       310        320        330        340        350
WTSDWWTVHH SVEETLNPKG PPSGKDRVKK GGSYMCHRSY CYRYRCAARS 
       360        370 
QNTPDSSASN LGFRCAADRL PTMD

Length:374

Mass (Da):40,556

Last modified:March 29, 2005 - v3

Checksum:ⁱE64F2DF004C8CEA3

GO

Isoform 2 (identifier: Q8NBK3-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-90: Missing.

« Hide

        10         20         30         40         50
MVPIPAGVFT MGTDDPQIKQ DGEAPARRVT IDAFYMDAYE VSNTEFEKFV 
        60         70         80         90        100
NSTGYLTEAE KFGDSFVFEG MLSEQVKTNI QQAVAAAPWW LPVKGANWRH 
       110        120        130        140        150
PEGPDSTILH RPDHPVLHVS WNDAVAYCTW AGKRLPTEAE WEYSCRGGLH 
       160        170        180        190        200
NRLFPWGNKL QPKGQHYANI WQGEFPVTNT GEDGFQGTAP VDAFPPNGYG 
       210        220        230        240        250
LYNIVGNAWE WTSDWWTVHH SVEETLNPKG PPSGKDRVKK GGSYMCHRSY 
       260        270        280 
CYRYRCAARS QNTPDSSASN LGFRCAADRL PTMD

Note: No experimental confirmation available.

Show »

Length:284

Mass (Da):31,900

Checksum:ⁱE616A28A77F81996

GO

Isoform 3 (identifier: Q8NBK3-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
340-374: YCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD → QEYYDPYFQD...QHGPRLHCVD

« Hide

        10         20         30         40         50
MAAPALGLVC GRCPELGLVL LLLLLSLLCG AAGSQEAGTG AGAGSLAGSC 
        60         70         80         90        100
GCGTPQRPGA HGSSAAAHRY SREANAPGPV PGERQLAHSK MVPIPAGVFT 
       110        120        130        140        150
MGTDDPQIKQ DGEAPARRVT IDAFYMDAYE VSNTEFEKFV NSTGYLTEAE 
       160        170        180        190        200
KFGDSFVFEG MLSEQVKTNI QQAVAAAPWW LPVKGANWRH PEGPDSTILH 
       210        220        230        240        250
RPDHPVLHVS WNDAVAYCTW AGKRLPTEAE WEYSCRGGLH NRLFPWGNKL 
       260        270        280        290        300
QPKGQHYANI WQGEFPVTNT GEDGFQGTAP VDAFPPNGYG LYNIVGNAWE 
       310        320        330        340        350
WTSDWWTVHH SVEETLNPKG PPSGKDRVKK GGSYMCHRSQ EYYDPYFQDV 
       360        370        380        390        400
ASEMLRRHTA SRWKAFSSLE PCCSIRRHQQ YAAIERLTCG KFELRCASLR 
       410        420 
KIDCLNTNIA CSYSMRQHGP RLHCVD

Show »

Length:426

Mass (Da):46,857

Checksum:ⁱ957E7E1E13D034A6

GO

Isoform 4 (identifier: Q8NBK3-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
149-173: Missing.

« Hide

        10         20         30         40         50
MAAPALGLVC GRCPELGLVL LLLLLSLLCG AAGSQEAGTG AGAGSLAGSC 
        60         70         80         90        100
GCGTPQRPGA HGSSAAAHRY SREANAPGPV PGERQLAHSK MVPIPAGVFT 
       110        120        130        140        150
MGTDDPQIKQ DGEAPARRVT IDAFYMDAYE VSNTEFEKFV NSTGYLTEVA 
       160        170        180        190        200
AAPWWLPVKG ANWRHPEGPD STILHRPDHP VLHVSWNDAV AYCTWAGKRL 
       210        220        230        240        250
PTEAEWEYSC RGGLHNRLFP WGNKLQPKGQ HYANIWQGEF PVTNTGEDGF 
       260        270        280        290        300
QGTAPVDAFP PNGYGLYNIV GNAWEWTSDW WTVHHSVEET LNPKGPPSGK 
       310        320        330        340 
DRVKKGGSYM CHRSYCYRYR CAARSQNTPD SSASNLGFRC AADRLPTMD

Note: No experimental confirmation available.

Show »

Length:349

Mass (Da):37,770

Checksum:ⁱ4C5192677FABF9CC

GO

Isoform 5 (identifier: Q8NBK3-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
319-338: Missing.

« Hide

        10         20         30         40         50
MAAPALGLVC GRCPELGLVL LLLLLSLLCG AAGSQEAGTG AGAGSLAGSC 
        60         70         80         90        100
GCGTPQRPGA HGSSAAAHRY SREANAPGPV PGERQLAHSK MVPIPAGVFT 
       110        120        130        140        150
MGTDDPQIKQ DGEAPARRVT IDAFYMDAYE VSNTEFEKFV NSTGYLTEAE 
       160        170        180        190        200
KFGDSFVFEG MLSEQVKTNI QQAVAAAPWW LPVKGANWRH PEGPDSTILH 
       210        220        230        240        250
RPDHPVLHVS WNDAVAYCTW AGKRLPTEAE WEYSCRGGLH NRLFPWGNKL 
       260        270        280        290        300
QPKGQHYANI WQGEFPVTNT GEDGFQGTAP VDAFPPNGYG LYNIVGNAWE 
       310        320        330        340        350
WTSDWWTVHH SVEETLNPSY CYRYRCAARS QNTPDSSASN LGFRCAADRL 

PTMD

Note: No experimental confirmation available.

Show »

Length:354

Mass (Da):38,386

Checksum:ⁱAB2E4103EAC0E027

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

E9PF05	E9PF05_HUMAN	Formylglycine-generating enzyme Formylglycine-generating enzyme	SUMF1	242	Annotation score:
F5GXA0	F5GXA0_HUMAN	Formylglycine-generating enzyme Formylglycine-generating enzyme	SUMF1	426	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	112	G → E in BAG63417 (PubMed:14702039).Curated	1
Sequence conflictⁱ	119	V → A in AAI21124 (PubMed:15489334).Curated	1
Sequence conflictⁱ	124	F → L in BAC11634 (PubMed:16303743).Curated	1
Sequence conflictⁱ	264	E → D in BAC11634 (PubMed:16303743).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_019050	20	L → F in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs200142963EnsemblClinVar.	1
Natural variantⁱVAR_016052	63	S → N2 PublicationsCorresponds to variant dbSNP:rs2819590EnsemblClinVar.	1
Natural variantⁱVAR_016053	155	S → P in MSD; loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs137852850EnsemblClinVar.	1
Natural variantⁱVAR_019051	177	A → P in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type. 2 Publications	1
Natural variantⁱVAR_042602	179	W → S in MSD; decreases its specific enzyme activity to less than 3%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type. 1 PublicationCorresponds to variant dbSNP:rs757323641Ensembl.	1
Natural variantⁱVAR_016054	218	C → Y in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852854EnsemblClinVar.	1
Natural variantⁱVAR_019052	224	R → W in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759888604Ensembl.	1
Natural variantⁱVAR_080468	247	G → R in MSD. 1 Publication	1
Natural variantⁱVAR_019053	259	N → I in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs764215221Ensembl.	1
Natural variantⁱVAR_080469	263	G → V in MSD; mild phenotype; reduced but not abolished activity. 1 Publication	1
Natural variantⁱVAR_019054	266	P → L in MSD; retains some activity. 1 PublicationCorresponds to variant dbSNP:rs763243827Ensembl.	1
Natural variantⁱVAR_016055	279	A → V in MSD; loss of activity; decreases its specific enzyme activity to about 23%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is decreased. 3 PublicationsCorresponds to variant dbSNP:rs137852849EnsemblClinVar.	1
Natural variantⁱVAR_080470	327 – 374	Missing in MSD; almost abolished enzyme activity. 1 PublicationAdd BLAST	48
Natural variantⁱVAR_016056	336	C → R in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852848EnsemblClinVar.	1
Natural variantⁱVAR_016057	345	R → C in MSD; reduced but not abolished activity. 3 PublicationsCorresponds to variant dbSNP:rs137852852EnsemblClinVar.	1
Natural variantⁱVAR_016058	348	A → P in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852853EnsemblClinVar.	1
Natural variantⁱVAR_016059	349	R → Q in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852847EnsemblClinVar.	1
Natural variantⁱVAR_016060	349	R → W in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is severely decreased. 4 PublicationsCorresponds to variant dbSNP:rs137852846EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_007877	1 – 90	Missing in isoform 2. 1 PublicationAdd BLAST	90
Alternative sequenceⁱVSP_045414	149 – 173	Missing in isoform 4. 1 PublicationAdd BLAST	25
Alternative sequenceⁱVSP_045415	319 – 338	Missing in isoform 5. 1 PublicationAdd BLAST	20
Alternative sequenceⁱVSP_013185	340 – 374	YCYRY…LPTMD → QEYYDPYFQDVASEMLRRHT ASRWKAFSSLEPCCSIRRHQ QYAAIERLTCGKFELRCASL RKIDCLNTNIACSYSMRQHG PRLHCVD in isoform 3. 1 PublicationAdd BLAST	35

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY208752 mRNA Translation: AAO34683.1 AY323910 mRNA Translation: AAP86217.1 AB448737 mRNA Translation: BAH11168.1 AY358092 mRNA Translation: AAQ88459.1 AK057983 mRNA Translation: BAB71625.1 AK302018 mRNA Translation: BAG63417.1 AK075459 mRNA Translation: BAC11634.1 AC018822 Genomic DNA No translation available. AC023480 Genomic DNA No translation available. AC023483 Genomic DNA No translation available. AC023484 Genomic DNA No translation available. AC024167 Genomic DNA No translation available. AC024168 Genomic DNA No translation available. AC034191 Genomic DNA No translation available. CH471055 Genomic DNA Translation: EAW63906.1 CH471055 Genomic DNA Translation: EAW63907.1 BC017005 mRNA Translation: AAH17005.2 BC110862 mRNA Translation: AAI10863.1 BC121122 mRNA Translation: AAI21123.1 BC121123 mRNA Translation: AAI21124.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS2564.1 [Q8NBK3-1] CCDS54548.1 [Q8NBK3-4] CCDS54549.1 [Q8NBK3-5]
NCBI Reference Sequences More...RefSeqⁱ	NP_001158146.1, NM_001164674.1 [Q8NBK3-4] NP_001158147.1, NM_001164675.1 [Q8NBK3-5] NP_877437.2, NM_182760.3 [Q8NBK3-1]
UniGeneⁱ	Hs.350475

Genome annotation databases

Ensemblⁱ	ENST00000272902; ENSP00000272902; ENSG00000144455 [Q8NBK3-1] ENST00000383843; ENSP00000373355; ENSG00000144455 [Q8NBK3-4] ENST00000405420; ENSP00000384977; ENSG00000144455 [Q8NBK3-5]
GeneIDⁱ	285362
KEGGⁱ	hsa:285362
UCSC genome browser More...UCSCⁱ	uc003bpz.3 human [Q8NBK3-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8NBK3	Isoform 2 of Formylglycine-generating enzyme		HUMAN		284	UniRef100_Q8NBK3
UPI00006687B1		HUMAN		286

Protein	Similar proteins		Species	Score	Length	Source
Q8NBK3	Isoform 2 of Formylglycine-generating enzyme		HUMAN		284	UniRef90_Q8NBK3
SUMF1 isoform 5		PONAB		426
SUMF1 isoform 2		PANTR		426
Sulfatase modifying factor 1		GORGO		374
Uncharacterized protein		PANPA		374
+11
Q8NBK3-4	Uncharacterized protein		PANPA		349	UniRef90_Q8NBK3-4
SUMF1 isoform 6		PANTR		349
UPI0007DC7820		HUMAN		423
Q8NBK3-5	SUMF1 isoform 8		PANTR		354	UniRef90_Q8NBK3-5
SUMF1 isoform 2		PONAB		354
Sulfatase modifying factor 1		GORGO		354
UPI0007DC74FC		HUMAN		428
UPI0007DB9818		PANTR		351
+2

Protein	Similar proteins		Species	Score	Length	Source
Q8NBK3	Isoform 2 of Formylglycine-generating enzyme		HUMAN		284	UniRef50_Q8NBK3
SUMF1 isoform 5		PONAB		426
SUMF1 isoform 2		PANTR		426
Sulfatase modifying factor 1		GORGO		374
Uncharacterized protein		PANPA		374
+40
Q8NBK3-4	Uncharacterized protein		PANPA		349	UniRef50_Q8NBK3-4
SUMF1 isoform 6		PANTR		349
UPI0007DC7820		HUMAN		423
UPI000C314899		AMPOC		344
UPI000944356E		Chinese rufous horseshoe bat		371
+5

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY208752 mRNA Translation: AAO34683.1 AY323910 mRNA Translation: AAP86217.1 AB448737 mRNA Translation: BAH11168.1 AY358092 mRNA Translation: AAQ88459.1 AK057983 mRNA Translation: BAB71625.1 AK302018 mRNA Translation: BAG63417.1 AK075459 mRNA Translation: BAC11634.1 AC018822 Genomic DNA No translation available. AC023480 Genomic DNA No translation available. AC023483 Genomic DNA No translation available. AC023484 Genomic DNA No translation available. AC024167 Genomic DNA No translation available. AC024168 Genomic DNA No translation available. AC034191 Genomic DNA No translation available. CH471055 Genomic DNA Translation: EAW63906.1 CH471055 Genomic DNA Translation: EAW63907.1 BC017005 mRNA Translation: AAH17005.2 BC110862 mRNA Translation: AAI10863.1 BC121122 mRNA Translation: AAI21123.1 BC121123 mRNA Translation: AAI21124.1
CCDSⁱ	CCDS2564.1 [Q8NBK3-1] CCDS54548.1 [Q8NBK3-4] CCDS54549.1 [Q8NBK3-5]
RefSeqⁱ	NP_001158146.1, NM_001164674.1 [Q8NBK3-4] NP_001158147.1, NM_001164675.1 [Q8NBK3-5] NP_877437.2, NM_182760.3 [Q8NBK3-1]
UniGeneⁱ	Hs.350475

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1Y1E	X-ray	1.73	X	73-374	[»]
	1Y1F	X-ray	1.80	X	73-374	[»]
	1Y1G	X-ray	1.67	X	73-374	[»]
	1Y1H	X-ray	1.67	X	73-374	[»]
	1Y1I	X-ray	2.61	X	73-374	[»]
	1Y1J	X-ray	1.55	X	73-374	[»]
	1Z70	X-ray	1.15	X	73-374	[»]
	2AFT	X-ray	1.66	X	86-371	[»]
	2AFY	X-ray	1.49	X	86-371	[»]
	2AII	X-ray	1.54	X	86-371	[»]
	2AIJ	X-ray	1.55	X	86-371	[»]
	2AIK	X-ray	1.73	X	86-371	[»]
	2HI8	X-ray	1.64	X	86-371	[»]
	2HIB	X-ray	2.00	X	86-371	[»]
ProteinModelPortalⁱ	Q8NBK3
SMRⁱ	Q8NBK3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	130091, 19 interactors
IntActⁱ	Q8NBK3, 4 interactors
MINTⁱ	Q8NBK3
STRINGⁱ	9606.ENSP00000272902

PTM databases

GlyConnectⁱ	1772
iPTMnetⁱ	Q8NBK3
PhosphoSitePlusⁱ	Q8NBK3

Polymorphism and mutation databases

BioMutaⁱ	SUMF1
DMDMⁱ	62298562

Proteomic databases

EPDⁱ	Q8NBK3
MaxQBⁱ	Q8NBK3
PaxDbⁱ	Q8NBK3
PeptideAtlasⁱ	Q8NBK3
PRIDEⁱ	Q8NBK3
ProteomicsDBⁱ	72786 72787 [Q8NBK3-2] 72788 [Q8NBK3-3]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000272902; ENSP00000272902; ENSG00000144455 [Q8NBK3-1] ENST00000383843; ENSP00000373355; ENSG00000144455 [Q8NBK3-4] ENST00000405420; ENSP00000384977; ENSG00000144455 [Q8NBK3-5]
GeneIDⁱ	285362
KEGGⁱ	hsa:285362
UCSCⁱ	uc003bpz.3 human [Q8NBK3-1]

Organism-specific databases

CTDⁱ	285362
DisGeNETⁱ	285362
EuPathDBⁱ	HostDB:ENSG00000144455.13
GeneCardsⁱ	SUMF1
HGNCⁱ	HGNC:20376 SUMF1
HPAⁱ	HPA038025
MalaCardsⁱ	SUMF1
MIMⁱ	272200 phenotype 607939 gene
neXtProtⁱ	NX_Q8NBK3
OpenTargetsⁱ	ENSG00000144455
Orphanetⁱ	585 Multiple sulfatase deficiency
PharmGKBⁱ	PA134977552
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IEYZ Eukaryota COG1262 LUCA
GeneTreeⁱ	ENSGT00390000008983
HOGENOMⁱ	HOG000135466
HOVERGENⁱ	HBG054193
InParanoidⁱ	Q8NBK3
KOⁱ	K13444
OMAⁱ	KLFPWGN
OrthoDBⁱ	EOG091G0DD2
PhylomeDBⁱ	Q8NBK3
TreeFamⁱ	TF324027

Enzyme and pathway databases

UniPathwayⁱ	UPA00910
BioCycⁱ	MetaCyc:ENSG00000144455-MONOMER
Reactomeⁱ	R-HSA-1660662 Glycosphingolipid metabolism R-HSA-1663150 The activation of arylsulfatases

Miscellaneous databases

ChiTaRSⁱ	SUMF1 human
EvolutionaryTraceⁱ	Q8NBK3
GeneWikiⁱ	SUMF1
GenomeRNAiⁱ	285362
Protein Ontology More...PROⁱ	PR:Q8NBK3
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000144455 Expressed in 209 organ(s), highest expression level in metanephros
CleanExⁱ	HS_SUMF1
ExpressionAtlasⁱ	Q8NBK3 baseline and differential
Genevisibleⁱ	Q8NBK3 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR016187 CTDL_fold IPR005532 SUMF_dom
Pfamⁱ	View protein in Pfam PF03781 FGE-sulfatase, 1 hit
SUPFAMⁱ	SSF56436 SSF56436, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	SUMF1_HUMAN
Accessionⁱ	Q8NBK3Primary (citable) accession number: Q8NBK3 Secondary accession number(s): B4DXK5 Q96DK8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 25, 2003
	Last sequence update:	March 29, 2005
	Last modified:	October 10, 2018
	This is version 154 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PATHWAY comments
Index of metabolic and biosynthesis pathways
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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UniProtKB - Q8NBK3 (SUMF1_HUMAN)

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Formylglycine-generating enzyme

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

Caution

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: sulfatase oxidation

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Endoplasmic reticulum

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

Kineticsⁱ

Pathwayⁱ: sulfatase oxidation

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ