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Protein

Inactive C-alpha-formylglycine-generating enzyme 2

Gene

SUMF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1.3 Publications

Caution

Although strongly similar to formylglycine-generating enzyme, lacks the catalytic Cys residues at positions 261 and 266 that bind the catalytic copper. The catalytic copper is required to activate oxygen and catalyze oxidative C-H activation.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi194Calcium 1; via carbonyl oxygen1 Publication1
Metal bindingi195Calcium 1; via carbonyl oxygen1 Publication1
Metal bindingi208Calcium 11 Publication1
Metal bindingi210Calcium 1; via carbonyl oxygen1 Publication1
Metal bindingi229Calcium 2; via carbonyl oxygen1 Publication1
Metal bindingi232Calcium 2; via carbonyl oxygen1 Publication1
Metal bindingi234Calcium 2; via carbonyl oxygen1 Publication1
Metal bindingi236Calcium 21 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
R-HSA-1663150 The activation of arylsulfatases

Names & Taxonomyi

Protein namesi
Recommended name:
Inactive C-alpha-formylglycine-generating enzyme 2Curated
Alternative name(s):
Paralog of formylglycine-generating enzyme3 Publications
Short name:
pFGE3 Publications
Sulfatase-modifying factor 21 Publication
Gene namesi
Name:SUMF21 PublicationImported
ORF Names:PSEC01711 Publication, UNQ1968/PRO45001 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000129103.17
HGNCiHGNC:20415 SUMF2
MIMi607940 gene
neXtProtiNX_Q8NBJ7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi156C → A: Abolishes interaction with and inhibition of SUMF1. Can still form homodimers. 1 Publication1
Mutagenesisi290C → A: Abolishes interaction with and inhibition of SUMF1. Can still form homodimers. 1 Publication1
Mutagenesisi298 – 301Missing : Abolishes endoplasmic reticulum retention. 1 Publication4
Mutagenesisi298 – 299PG → KD: Does not affect endoplasmic reticulum retention. 1 Publication2
Mutagenesisi298P → S: Does not affect endoplasmic reticulum retention. 1 Publication1

Organism-specific databases

DisGeNETi25870
OpenTargetsiENSG00000129103
PharmGKBiPA134921869

Polymorphism and mutation databases

BioMutaiSUMF2
DMDMi296452916

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000003345926 – 301Inactive C-alpha-formylglycine-generating enzyme 2Add BLAST276

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi156 ↔ 2902 Publications
Glycosylationi191N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ8NBJ7
MaxQBiQ8NBJ7
PaxDbiQ8NBJ7
PeptideAtlasiQ8NBJ7
PRIDEiQ8NBJ7
ProteomicsDBi72779
72780 [Q8NBJ7-2]
72781 [Q8NBJ7-3]
72782 [Q8NBJ7-4]
72783 [Q8NBJ7-5]

2D gel databases

REPRODUCTION-2DPAGEiIPI00171412

PTM databases

GlyConnecti1773
iPTMnetiQ8NBJ7
PhosphoSitePlusiQ8NBJ7

Miscellaneous databases

PMAP-CutDBiQ8NBJ7

Expressioni

Tissue specificityi

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Highest levels in kidney, liver and placenta.2 Publications

Gene expression databases

BgeeiENSG00000129103 Expressed in 196 organ(s), highest expression level in right uterine tube
CleanExiHS_SUMF2
ExpressionAtlasiQ8NBJ7 baseline and differential
GenevisibleiQ8NBJ7 HS

Organism-specific databases

HPAiCAB025743
HPA024040
HPA074892

Interactioni

Subunit structurei

Homodimer and heterodimer with SUMF1.2 Publications

Protein-protein interaction databases

BioGridi117386, 13 interactors
IntActiQ8NBJ7, 6 interactors
MINTiQ8NBJ7
STRINGi9606.ENSP00000341938

Structurei

Secondary structure

1301
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8NBJ7
SMRiQ8NBJ7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NBJ7

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi298 – 301Non-canonical ER retention motif1 Publication4

Domaini

The non-canonical ER retention motif mediates retention of the protein in the endoplasmic reticulum.1 Publication

Sequence similaritiesi

Belongs to the sulfatase-modifying factor family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IFQ0 Eukaryota
COG1262 LUCA
GeneTreeiENSGT00390000008983
HOVERGENiHBG054193
InParanoidiQ8NBJ7
PhylomeDBiQ8NBJ7

Family and domain databases

InterProiView protein in InterPro
IPR016187 CTDL_fold
IPR005532 SUMF_dom
PfamiView protein in Pfam
PF03781 FGE-sulfatase, 1 hit
SUPFAMiSSF56436 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. AlignAdd to basket

This entry has 5 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NBJ7-1) [UniParc]FASTAAdd 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
MARHGLPLLP LLSLLVGAWL KLGNGQATSM VQLQGGRFLM GTNSPDSRDG
60 70 80 90 100
DGPVREATVK PFAIDIFPVT NKDFRDFVRE KKYRTEAEMF GWSFVFEDFV
110 120 130 140 150
SDELRNKATQ PMKSVLWWLP VEKAFWRQPA GPGSGIRERL EHPVLHVSWN
160 170 180 190 200
DARAYCAWRG KRLPTEEEWE FAARGGLKGQ VYPWGNWFQP NRTNLWQGKF
210 220 230 240 250
PKGDKAEDGF HGVSPVNAFP AQNNYGLYDL LGNVWEWTAS PYQAAEQDMR
260 270 280 290 300
VLRGASWIDT ADGSANHRAR VTTRMGNTPD SASDNLGFRC AADAGRPPGE

L
Length:301
Mass (Da):33,843
Last modified:May 18, 2010 - v2
Checksum:i1E834CEA56922755
GO
Isoform 2 (identifier: Q8NBJ7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-88: Missing.

Show »
Length:213
Mass (Da):24,117
Checksum:iE8AF9A2220AEE11D
GO
Isoform 3 (identifier: Q8NBJ7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-301: LYDLLGNVWE...ADAGRPPGEL → WATLQIQPQT...QVFLLEAKYY

Note: No experimental confirmation available.
Show »
Length:339
Mass (Da):37,395
Checksum:i74E1DA4C9B85F276
GO
Isoform 5 (identifier: Q8NBJ7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     114-197: Missing.

Show »
Length:217
Mass (Da):23,902
Checksum:i80822E9067E4E5C2
GO
Isoform 4 (identifier: Q8NBJ7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     114-301: SVLWWLPVEK...ADAGRPPGEL → VKFTHGGTGS...QVFLLEAKYY

Note: No experimental confirmation available.
Show »
Length:321
Mass (Da):34,187
Checksum:iA4B285CB52C41407
GO

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WA42F8WA42_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
358Annotation score:
C9J660C9J660_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
352Annotation score:
A8MXB9A8MXB9_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
305Annotation score:
E9PBT8E9PBT8_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
232Annotation score:
J3QT17J3QT17_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
236Annotation score:
J3KQJ1J3KQJ1_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
320Annotation score:
F8WEV7F8WEV7_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
102Annotation score:
E9PG02E9PG02_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
183Annotation score:
F8WEX5F8WEX5_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
165Annotation score:
H7C3B2H7C3B2_HUMAN
Inactive C-alpha-formylglycine-gene...
SUMF2
304Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAH00224 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAB43247 differs from that shown. Reason: Frameshift at positions 150 and 187.Curated
The sequence CAB43247 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04695151D → ECombined sources6 PublicationsCorresponds to variant dbSNP:rs4245575Ensembl.1
Natural variantiVAR_080774228Y → C Found in a consanguineous family with intellectual disability; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0078781 – 88Missing in isoform 2. 2 PublicationsAdd BLAST88
Alternative sequenceiVSP_007880114 – 301SVLWW…PPGEL → VKFTHGGTGSSQTAPTCGRE SSPRETKLRMASMESPQMLS PPRTTTGSMTSWGTCGSGQH HRTRLLSRTCASSGGHPGST QLMALPITGPGSPPGWATLQ IQPQTTSVSAVLQTQAGRQG SCKQPGGDKEKSLLGSLSFP GHVANSAIPSSRASASGKNF PFPVSHPSVAGASHQGRRGL SLLCFGEGAQCVLTMAGGQV FLLEAKYY in isoform 4. 1 PublicationAdd BLAST188
Alternative sequenceiVSP_040878114 – 197Missing in isoform 5. CuratedAdd BLAST84
Alternative sequenceiVSP_007879227 – 301LYDLL…PPGEL → WATLQIQPQTTSVSAVLQTQ AGRQGSCKQPGGDKEKSLLG SLSFPGHVANSAIPSSRASA SGKNFPFPVSHPSVAGASHQ GRRGLSLLCFGEGAQCVLTM AGGQVFLLEAKYY in isoform 3. 1 PublicationAdd BLAST75

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY323911 mRNA Translation: AAP86218.1
AY359103 mRNA Translation: AAQ89461.1
AK300488 mRNA Translation: BAG62203.1
AK301627 mRNA Translation: BAG63112.1
AK075477 mRNA Translation: BAC11643.1
AL050037 mRNA Translation: CAB43247.1 Sequence problems.
CH471140 Genomic DNA Translation: EAX07980.1
BC000224 mRNA Translation: AAH00224.1 Different initiation.
BC006159 mRNA Translation: AAH06159.1
BC015600 mRNA Translation: AAH15600.2
BC084539 mRNA Translation: AAH84539.1
BC111092 mRNA Translation: AAI11093.1
CCDSiCCDS55111.1 [Q8NBJ7-2]
PIRiT08715
RefSeqiNP_001035934.2, NM_001042469.1
NP_001035935.2, NM_001042470.1
NP_001123541.1, NM_001130069.2
NP_001139805.1, NM_001146333.1 [Q8NBJ7-2]
NP_056226.2, NM_015411.2
UniGeneiHs.279696

Genome annotation databases

EnsembliENST00000275607; ENSP00000275607; ENSG00000129103 [Q8NBJ7-2]
GeneIDi25870
KEGGihsa:25870
UCSCiuc003trt.4 human [Q8NBJ7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY323911 mRNA Translation: AAP86218.1
AY359103 mRNA Translation: AAQ89461.1
AK300488 mRNA Translation: BAG62203.1
AK301627 mRNA Translation: BAG63112.1
AK075477 mRNA Translation: BAC11643.1
AL050037 mRNA Translation: CAB43247.1 Sequence problems.
CH471140 Genomic DNA Translation: EAX07980.1
BC000224 mRNA Translation: AAH00224.1 Different initiation.
BC006159 mRNA Translation: AAH06159.1
BC015600 mRNA Translation: AAH15600.2
BC084539 mRNA Translation: AAH84539.1
BC111092 mRNA Translation: AAI11093.1
CCDSiCCDS55111.1 [Q8NBJ7-2]
PIRiT08715
RefSeqiNP_001035934.2, NM_001042469.1
NP_001035935.2, NM_001042470.1
NP_001123541.1, NM_001130069.2
NP_001139805.1, NM_001146333.1 [Q8NBJ7-2]
NP_056226.2, NM_015411.2
UniGeneiHs.279696

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y4JX-ray1.86A/B27-301[»]
ProteinModelPortaliQ8NBJ7
SMRiQ8NBJ7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117386, 13 interactors
IntActiQ8NBJ7, 6 interactors
MINTiQ8NBJ7
STRINGi9606.ENSP00000341938

PTM databases

GlyConnecti1773
iPTMnetiQ8NBJ7
PhosphoSitePlusiQ8NBJ7

Polymorphism and mutation databases

BioMutaiSUMF2
DMDMi296452916

2D gel databases

REPRODUCTION-2DPAGEiIPI00171412

Proteomic databases

EPDiQ8NBJ7
MaxQBiQ8NBJ7
PaxDbiQ8NBJ7
PeptideAtlasiQ8NBJ7
PRIDEiQ8NBJ7
ProteomicsDBi72779
72780 [Q8NBJ7-2]
72781 [Q8NBJ7-3]
72782 [Q8NBJ7-4]
72783 [Q8NBJ7-5]

Protocols and materials databases

DNASUi25870
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000275607; ENSP00000275607; ENSG00000129103 [Q8NBJ7-2]
GeneIDi25870
KEGGihsa:25870
UCSCiuc003trt.4 human [Q8NBJ7-1]

Organism-specific databases

CTDi25870
DisGeNETi25870
EuPathDBiHostDB:ENSG00000129103.17
GeneCardsiSUMF2
HGNCiHGNC:20415 SUMF2
HPAiCAB025743
HPA024040
HPA074892
MIMi607940 gene
neXtProtiNX_Q8NBJ7
OpenTargetsiENSG00000129103
PharmGKBiPA134921869
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFQ0 Eukaryota
COG1262 LUCA
GeneTreeiENSGT00390000008983
HOVERGENiHBG054193
InParanoidiQ8NBJ7
PhylomeDBiQ8NBJ7

Enzyme and pathway databases

ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
R-HSA-1663150 The activation of arylsulfatases

Miscellaneous databases

EvolutionaryTraceiQ8NBJ7
GeneWikiiSUMF2
GenomeRNAii25870
PMAP-CutDBiQ8NBJ7
PROiPR:Q8NBJ7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129103 Expressed in 196 organ(s), highest expression level in right uterine tube
CleanExiHS_SUMF2
ExpressionAtlasiQ8NBJ7 baseline and differential
GenevisibleiQ8NBJ7 HS

Family and domain databases

InterProiView protein in InterPro
IPR016187 CTDL_fold
IPR005532 SUMF_dom
PfamiView protein in Pfam
PF03781 FGE-sulfatase, 1 hit
SUPFAMiSSF56436 SSF56436, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSUMF2_HUMAN
AccessioniPrimary (citable) accession number: Q8NBJ7
Secondary accession number(s): B4DU41
, B4DWQ0, Q14DW5, Q53ZE3, Q96BH2, Q9BRN3, Q9BWI1, Q9Y405
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: May 18, 2010
Last modified: October 10, 2018
This is version 158 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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