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Protein

Formylglycine-generating enzyme

Gene

SUMF1

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

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
  1. KM=0.34 µM for [sulfatase]-L-cysteine1 Publication

    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 keyPosition(s)DescriptionActionsGraphical viewLength
    Metal bindingi130Calcium 21 Publication1
    Metal bindingi259Calcium 11 Publication1
    Metal bindingi260Calcium 1; via carbonyl oxygen1 Publication1
    Metal bindingi273Calcium 11 Publication1
    Metal bindingi275Calcium 1; via carbonyl oxygen1 Publication1
    Metal bindingi293Calcium 2; via carbonyl oxygen1 Publication1
    Metal bindingi296Calcium 2; via carbonyl oxygen1 Publication1
    Metal bindingi298Calcium 2; via carbonyl oxygen1 Publication1
    Metal bindingi300Calcium 21 Publication1
    Metal bindingi336Copper(2+); catalytic1 Publication1
    Metal bindingi341Copper(2+); catalytic1 Publication1

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionOxidoreductase
    LigandCalcium, Copper, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000144455-MONOMER
    ReactomeiR-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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 3

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000144455.13
    HGNCiHGNC:20376 SUMF1
    MIMi607939 gene
    neXtProtiNX_Q8NBK3

    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

    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.
    See also OMIM:272200
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_01905020L → F in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs200142963EnsemblClinVar.1
    Natural variantiVAR_016053155S → P in MSD; loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs137852850EnsemblClinVar.1
    Natural variantiVAR_019051177A → 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 Publications1
    Natural variantiVAR_042602179W → 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_016054218C → Y in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852854EnsemblClinVar.1
    Natural variantiVAR_019052224R → W in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759888604Ensembl.1
    Natural variantiVAR_080468247G → R in MSD. 1 Publication1
    Natural variantiVAR_019053259N → I in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs764215221Ensembl.1
    Natural variantiVAR_080469263G → V in MSD; mild phenotype; reduced but not abolished activity. 1 Publication1
    Natural variantiVAR_019054266P → L in MSD; retains some activity. 1 PublicationCorresponds to variant dbSNP:rs763243827Ensembl.1
    Natural variantiVAR_016055279A → 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_080470327 – 374Missing in MSD; almost abolished enzyme activity. 1 PublicationAdd BLAST48
    Natural variantiVAR_016056336C → R in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852848EnsemblClinVar.1
    Natural variantiVAR_016057345R → C in MSD; reduced but not abolished activity. 3 PublicationsCorresponds to variant dbSNP:rs137852852EnsemblClinVar.1
    Natural variantiVAR_016058348A → P in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852853EnsemblClinVar.1
    Natural variantiVAR_016059349R → Q in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852847EnsemblClinVar.1
    Natural variantiVAR_016060349R → 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

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi333S → A: Loss of activity. 1 Publication1
    Mutagenesisi333S → T: Reduces activity by 99%. 1 Publication1
    Mutagenesisi336C → S: Loss of activity. 1 Publication1
    Mutagenesisi337H → A: Reduces activity 5-fold. 1 Publication1
    Mutagenesisi340Y → F: No effect. 1 Publication1
    Mutagenesisi341C → S: Loss of activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Ichthyosis, Leukodystrophy, Metachromatic leukodystrophy, Mucopolysaccharidosis

    Organism-specific databases

    DisGeNETi285362
    MalaCardsiSUMF1
    MIMi272200 phenotype
    OpenTargetsiENSG00000144455
    Orphaneti585 Multiple sulfatase deficiency
    PharmGKBiPA134977552

    Polymorphism and mutation databases

    BioMutaiSUMF1
    DMDMi62298562

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Signal peptidei1 – 331 PublicationAdd BLAST33
    ChainiPRO_000003345634 – 374Formylglycine-generating enzymeAdd BLAST341

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Disulfide bondi50 ↔ 522 Publications
    Glycosylationi141N-linked (GlcNAc...) asparagine3 Publications1
    Disulfide bondi218 ↔ 3652 Publications
    Disulfide bondi235 ↔ 3462 Publications

    Post-translational modificationi

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

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    EPDiQ8NBK3
    MaxQBiQ8NBK3
    PaxDbiQ8NBK3
    PeptideAtlasiQ8NBK3
    PRIDEiQ8NBK3
    ProteomicsDBi72786
    72787 [Q8NBK3-2]
    72788 [Q8NBK3-3]

    PTM databases

    GlyConnecti1772
    iPTMnetiQ8NBK3
    PhosphoSitePlusiQ8NBK3

    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

    BgeeiENSG00000144455 Expressed in 209 organ(s), highest expression level in metanephros
    CleanExiHS_SUMF1
    ExpressionAtlasiQ8NBK3 baseline and differential
    GenevisibleiQ8NBK3 HS

    Organism-specific databases

    HPAiHPA038025

    Interactioni

    Subunit structurei

    Monomer, homodimer and heterodimer with SUMF2.3 Publications

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi130091, 19 interactors
    IntActiQ8NBK3, 4 interactors
    MINTiQ8NBK3
    STRINGi9606.ENSP00000272902

    Structurei

    Secondary structure

    1374
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliQ8NBK3
    SMRiQ8NBK3
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ8NBK3

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni341 – 360Interaction with sulfatases1 PublicationAdd BLAST20

    Sequence similaritiesi

    Belongs to the sulfatase-modifying factor family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiENOG410IEYZ Eukaryota
    COG1262 LUCA
    GeneTreeiENSGT00390000008983
    HOGENOMiHOG000135466
    HOVERGENiHBG054193
    InParanoidiQ8NBK3
    KOiK13444
    OMAiKLFPWGN
    OrthoDBiEOG091G0DD2
    PhylomeDBiQ8NBK3
    TreeFamiTF324027

    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 2 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q8NBK3-1) [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
    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]FASTAAdd to basket

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

    Note: No experimental confirmation available.
    Show »
    Length:284
    Mass (Da):31,900
    Checksum:iE616A28A77F81996
    GO
    Isoform 3 (identifier: Q8NBK3-3) [UniParc]FASTAAdd to basket

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

    Show »
    Length:426
    Mass (Da):46,857
    Checksum:i957E7E1E13D034A6
    GO
    Isoform 4 (identifier: Q8NBK3-4) [UniParc]FASTAAdd to basket

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

    Note: No experimental confirmation available.
    Show »
    Length:349
    Mass (Da):37,770
    Checksum:i4C5192677FABF9CC
    GO
    Isoform 5 (identifier: Q8NBK3-5) [UniParc]FASTAAdd to basket

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

    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.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    E9PF05E9PF05_HUMAN
    Formylglycine-generating enzyme
    SUMF1
    242Annotation score:
    F5GXA0F5GXA0_HUMAN
    Formylglycine-generating enzyme
    SUMF1
    426Annotation score:

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti112G → E in BAG63417 (PubMed:14702039).Curated1
    Sequence conflicti119V → A in AAI21124 (PubMed:15489334).Curated1
    Sequence conflicti124F → L in BAC11634 (PubMed:16303743).Curated1
    Sequence conflicti264E → D in BAC11634 (PubMed:16303743).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_01905020L → F in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs200142963EnsemblClinVar.1
    Natural variantiVAR_01605263S → N2 PublicationsCorresponds to variant dbSNP:rs2819590EnsemblClinVar.1
    Natural variantiVAR_016053155S → P in MSD; loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs137852850EnsemblClinVar.1
    Natural variantiVAR_019051177A → 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 Publications1
    Natural variantiVAR_042602179W → 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_016054218C → Y in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852854EnsemblClinVar.1
    Natural variantiVAR_019052224R → W in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759888604Ensembl.1
    Natural variantiVAR_080468247G → R in MSD. 1 Publication1
    Natural variantiVAR_019053259N → I in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs764215221Ensembl.1
    Natural variantiVAR_080469263G → V in MSD; mild phenotype; reduced but not abolished activity. 1 Publication1
    Natural variantiVAR_019054266P → L in MSD; retains some activity. 1 PublicationCorresponds to variant dbSNP:rs763243827Ensembl.1
    Natural variantiVAR_016055279A → 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_080470327 – 374Missing in MSD; almost abolished enzyme activity. 1 PublicationAdd BLAST48
    Natural variantiVAR_016056336C → R in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852848EnsemblClinVar.1
    Natural variantiVAR_016057345R → C in MSD; reduced but not abolished activity. 3 PublicationsCorresponds to variant dbSNP:rs137852852EnsemblClinVar.1
    Natural variantiVAR_016058348A → P in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852853EnsemblClinVar.1
    Natural variantiVAR_016059349R → Q in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852847EnsemblClinVar.1
    Natural variantiVAR_016060349R → 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 keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0078771 – 90Missing in isoform 2. 1 PublicationAdd BLAST90
    Alternative sequenceiVSP_045414149 – 173Missing in isoform 4. 1 PublicationAdd BLAST25
    Alternative sequenceiVSP_045415319 – 338Missing in isoform 5. 1 PublicationAdd BLAST20
    Alternative sequenceiVSP_013185340 – 374YCYRY…LPTMD → QEYYDPYFQDVASEMLRRHT ASRWKAFSSLEPCCSIRRHQ QYAAIERLTCGKFELRCASL RKIDCLNTNIACSYSMRQHG PRLHCVD in isoform 3. 1 PublicationAdd BLAST35

    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
    CCDSiCCDS2564.1 [Q8NBK3-1]
    CCDS54548.1 [Q8NBK3-4]
    CCDS54549.1 [Q8NBK3-5]
    RefSeqiNP_001158146.1, NM_001164674.1 [Q8NBK3-4]
    NP_001158147.1, NM_001164675.1 [Q8NBK3-5]
    NP_877437.2, NM_182760.3 [Q8NBK3-1]
    UniGeneiHs.350475

    Genome annotation databases

    EnsembliENST00000272902; ENSP00000272902; ENSG00000144455 [Q8NBK3-1]
    ENST00000383843; ENSP00000373355; ENSG00000144455 [Q8NBK3-4]
    ENST00000405420; ENSP00000384977; ENSG00000144455 [Q8NBK3-5]
    GeneIDi285362
    KEGGihsa:285362
    UCSCiuc003bpz.3 human [Q8NBK3-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    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
    CCDSiCCDS2564.1 [Q8NBK3-1]
    CCDS54548.1 [Q8NBK3-4]
    CCDS54549.1 [Q8NBK3-5]
    RefSeqiNP_001158146.1, NM_001164674.1 [Q8NBK3-4]
    NP_001158147.1, NM_001164675.1 [Q8NBK3-5]
    NP_877437.2, NM_182760.3 [Q8NBK3-1]
    UniGeneiHs.350475

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1Y1EX-ray1.73X73-374[»]
    1Y1FX-ray1.80X73-374[»]
    1Y1GX-ray1.67X73-374[»]
    1Y1HX-ray1.67X73-374[»]
    1Y1IX-ray2.61X73-374[»]
    1Y1JX-ray1.55X73-374[»]
    1Z70X-ray1.15X73-374[»]
    2AFTX-ray1.66X86-371[»]
    2AFYX-ray1.49X86-371[»]
    2AIIX-ray1.54X86-371[»]
    2AIJX-ray1.55X86-371[»]
    2AIKX-ray1.73X86-371[»]
    2HI8X-ray1.64X86-371[»]
    2HIBX-ray2.00X86-371[»]
    ProteinModelPortaliQ8NBK3
    SMRiQ8NBK3
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi130091, 19 interactors
    IntActiQ8NBK3, 4 interactors
    MINTiQ8NBK3
    STRINGi9606.ENSP00000272902

    PTM databases

    GlyConnecti1772
    iPTMnetiQ8NBK3
    PhosphoSitePlusiQ8NBK3

    Polymorphism and mutation databases

    BioMutaiSUMF1
    DMDMi62298562

    Proteomic databases

    EPDiQ8NBK3
    MaxQBiQ8NBK3
    PaxDbiQ8NBK3
    PeptideAtlasiQ8NBK3
    PRIDEiQ8NBK3
    ProteomicsDBi72786
    72787 [Q8NBK3-2]
    72788 [Q8NBK3-3]

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000272902; ENSP00000272902; ENSG00000144455 [Q8NBK3-1]
    ENST00000383843; ENSP00000373355; ENSG00000144455 [Q8NBK3-4]
    ENST00000405420; ENSP00000384977; ENSG00000144455 [Q8NBK3-5]
    GeneIDi285362
    KEGGihsa:285362
    UCSCiuc003bpz.3 human [Q8NBK3-1]

    Organism-specific databases

    CTDi285362
    DisGeNETi285362
    EuPathDBiHostDB:ENSG00000144455.13
    GeneCardsiSUMF1
    HGNCiHGNC:20376 SUMF1
    HPAiHPA038025
    MalaCardsiSUMF1
    MIMi272200 phenotype
    607939 gene
    neXtProtiNX_Q8NBK3
    OpenTargetsiENSG00000144455
    Orphaneti585 Multiple sulfatase deficiency
    PharmGKBiPA134977552
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiENOG410IEYZ Eukaryota
    COG1262 LUCA
    GeneTreeiENSGT00390000008983
    HOGENOMiHOG000135466
    HOVERGENiHBG054193
    InParanoidiQ8NBK3
    KOiK13444
    OMAiKLFPWGN
    OrthoDBiEOG091G0DD2
    PhylomeDBiQ8NBK3
    TreeFamiTF324027

    Enzyme and pathway databases

    UniPathwayi
    UPA00910

    BioCyciMetaCyc:ENSG00000144455-MONOMER
    ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
    R-HSA-1663150 The activation of arylsulfatases

    Miscellaneous databases

    ChiTaRSiSUMF1 human
    EvolutionaryTraceiQ8NBK3
    GeneWikiiSUMF1
    GenomeRNAii285362
    PROiPR:Q8NBK3
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000144455 Expressed in 209 organ(s), highest expression level in metanephros
    CleanExiHS_SUMF1
    ExpressionAtlasiQ8NBK3 baseline and differential
    GenevisibleiQ8NBK3 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 nameiSUMF1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NBK3
    Secondary accession number(s): B4DXK5
    , B7XD05, E9PGL0, G5E9B0, Q0VAC6, Q0VAC7, Q2NL78, Q53ZE4, Q6UY39, Q96AK5, Q96DK8
    Entry historyiIntegrated 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 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. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
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