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Protein

Sulfatase-modifying factor 2

Gene

SUMF2

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

Functioni

Lacks formyl-glycine 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

Sites

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

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:
Sulfatase-modifying factor 2
Alternative name(s):
C-alpha-formylglycine-generating enzyme 2
Gene namesi
Name:SUMF2
ORF Names:PSEC0171, UNQ1968/PRO4500
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

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 – 301Sulfatase-modifying factor 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

2D gel databases

REPRODUCTION-2DPAGEiIPI00171412

PTM databases

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
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

BioGridi11738613 interactors.
IntActiQ8NBJ7 6 interactors.
MINTiQ8NBJ7
STRINGi9606.ENSP00000341938

Structurei

Secondary structure

1301
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi30 – 33Combined sources4
Beta strandi36 – 41Combined sources6
Beta strandi55 – 59Combined sources5
Beta strandi61 – 67Combined sources7
Helixi71 – 81Combined sources11
Helixi86 – 90Combined sources5
Beta strandi92 – 96Combined sources5
Helixi97 – 99Combined sources3
Helixi102 – 106Combined sources5
Beta strandi118 – 122Combined sources5
Helixi149 – 158Combined sources10
Helixi166 – 174Combined sources9
Beta strandi185 – 187Combined sources3
Turni200 – 202Combined sources3
Beta strandi231 – 241Combined sources11
Helixi245 – 247Combined sources3
Beta strandi250 – 254Combined sources5
Beta strandi263 – 268Combined sources6
Beta strandi274 – 277Combined sources4
Beta strandi291 – 293Combined sources3

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...

Miscellaneous databases

EvolutionaryTraceiQ8NBJ7

Family & Domainsi

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

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

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

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

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: February 28, 2018
This is version 154 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