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SUMF1 Gene

protein-coding   GIFtS: 62
GCID: GC03M003742

Sulfatase Modifying Factor 1

  See SUMF1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sulfatase Modifying Factor 11 2     FGly-Generating Enzyme2
FGE2 3 5     Sulfatase-Modifying Factor 12
C-Alpha-Formylglycine-Generating Enzyme 12 3     EC 1.8.99.-3
AAPA30372     

External Ids:    HGNC: 203761   Entrez Gene: 2853622   Ensembl: ENSG000001444557   OMIM: 6079395   UniProtKB: Q8NBK33   

Export aliases for SUMF1 gene to outside databases

Previous GC identifers: GC03M004394 GC03M004377 GC03M003844


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SUMF1 Gene:
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the
substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine.
Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Sep 2009)

GeneCards Summary for SUMF1 Gene:
SUMF1 (sulfatase modifying factor 1) is a protein-coding gene. Diseases associated with SUMF1 include mucosulfatidosis, and spinocerebellar ataxia type 15. GO annotations related to this gene include oxidoreductase activity and protein homodimerization activity. An important paralog of this gene is SUMF2.

UniProtKB/Swiss-Prot: SUMF1_HUMAN, Q8NBK3
Function: Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate
sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates
include GALNS, ARSA, STS and ARSE

Gene Wiki entry for SUMF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SUMF1 gene promoter:
         USF1   Pax-5   ATF-2   C/EBPalpha   CRE-BP1   USF-1   Sox9   IRF-7A   aMEF-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSUMF1 promoter sequence
   Search Chromatin IP Primers for SUMF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SUMF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p26.1   Ensembl cytogenetic band:  3p26.1   HGNC cytogenetic band: 3p26.1

SUMF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUMF1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M003742:  view genomic region     (about GC identifiers)

Start:
3,742,498 bp from pter      End:
4,508,966 bp from pter
Size:
766,469 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SUMF1_HUMAN, Q8NBK3 (See protein sequence)
Recommended Name: Sulfatase-modifying factor 1 precursor  
Size: 374 amino acids; 40556 Da
Subunit: Monomer, homodimer and heterodimer with SUMF2
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
Selected PDB 3D structures from and Proteopedia for SUMF1 (see all 14):
1Y1E (3D)        1Y1F (3D)        1Y1G (3D)        1Y1H (3D)        1Y1I (3D)        1Y1J (3D)    
Secondary accessions: B4DXK5 B7XD05 E9PGL0 G5E9B0 Q0VAC6 Q0VAC7 Q2NL78 Q53ZE4 Q6UY39 Q96AK5
Q96DK8
Alternative splicing: 5 isoforms:  Q8NBK3-1   Q8NBK3-2   Q8NBK3-3   Q8NBK3-4   Q8NBK3-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SUMF1: NX_Q8NBK3

Explore proteomics data for SUMF1 at MOPED

Post-translational modifications: 

  • N-glycosylated. Contains high-mannose-type oligosaccharides1
  • Glycosylation2 at Asn141

  • See SUMF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001158146.1  NP_001158147.1  NP_877437.2  

    ENSEMBL proteins: 
     ENSP00000404384   ENSP00000272902   ENSP00000373355   ENSP00000410060   ENSP00000384977  
     ENSP00000440421  
    Reactome Protein details: Q8NBK3

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR016187 C-type_lectin_fold
     IPR005532 FGE_dom

    Graphical View of Domain Structure for InterPro Entry Q8NBK3

    ProtoNet protein and cluster: Q8NBK3

    UniProtKB/Swiss-Prot: SUMF1_HUMAN, Q8NBK3
    Similarity: Belongs to the sulfatase-modifying factor family


    Find genes that share domains with SUMF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SUMF1_HUMAN, Q8NBK3
    Function: Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate
    sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates
    include GALNS, ARSA, STS and ARSE
    Catalytic activity: [sulfatase]-cysteine + acceptor = [sulfatase]-3-oxoalanine + reduced acceptor

         Enzyme Number (IUBMB): EC 1.8.99.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0016491oxidoreductase activity IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with SUMF1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SUMF1:
     Increased HPV18 LCR reporter a 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sumf1):
     behavior/neurological  cellular  craniofacial  growth/size/body  hematopoietic system 
     immune system  limbs/digits/tail  liver/biliary system  mortality/aging  nervous system 
     skeleton 

    Find genes that share phenotypes with SUMF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sumf1tm1Lex for SUMF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SUMF1
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    miRTarBase miRNAs that target SUMF1:
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    Block miRNA regulation of human, mouse, rat SUMF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SUMF1 (see all 23):
    hsa-miR-106a hsa-miR-519a hsa-miR-3150a-3p hsa-miR-124 hsa-miR-93 hsa-miR-330-3p hsa-miR-506 hsa-miR-520g
    SwitchGear 3'UTR luciferase reporter plasmidSUMF1 3' UTR sequence
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    Addgene plasmids for SUMF1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SUMF1_HUMAN, Q8NBK3: Endoplasmic reticulum lumen
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular2
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005788endoplasmic reticulum lumen TAS--

    Find genes that share ontologies with SUMF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SUMF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    The activation of arylsulfatases0.00
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    5Lysosome
    Lysosome


    Find genes that share SuperPaths with SUMF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for SUMF1
        Glycosphingolipid metabolism
    The activation of arylsulfatases


    1 Kegg Pathway  (Kegg details for SUMF1):
        Lysosome

    UniProtKB/Swiss-Prot: SUMF1_HUMAN, Q8NBK3
    Pathway: Protein modification; sulfatase oxidation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SUMF1
    Interactions:

        GeneGlobe Interaction Network for SUMF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SUMF1 (Q8NBK32, 3 ENSP000002729024) via UniProtKB, MINT, STRING, and/or I2D (see all 53)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSD17B10Q997142, 3, ENSP000001682164MINT-4793820 I2D: score=1 STRING: ENSP00000168216
    LAMP1P112792, 3, ENSP000003332984MINT-4793837 I2D: score=1 STRING: ENSP00000333298
    ARSAENSP000002161244STRING: ENSP00000216124
    ARSBENSP000002649144STRING: ENSP00000264914
    ARSDENSP000003705464STRING: ENSP00000370546
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with SUMF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SUMF1

    4 Novoseek inferred chemical compound relationships for SUMF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    formylglycine 98.1 43 14563551 (4), 18305113 (4), 15907468 (3), 18157819 (3) (see all 13)
    cysteine 64.7 22 16368756 (3), 18390551 (2), 16174644 (2), 18508857 (1) (see all 14)
    oxygen 0 2 16368756 (1), 15907468 (1)
    calcium 0 1 16041070 (1)



    Find genes that share compounds with SUMF1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SUMF1 gene (3 alternative transcripts): 
    NM_001164674.1  NM_001164675.1  NM_182760.3  

    Unigene Cluster for SUMF1:

    Sulfatase modifying factor 1
    Hs.350475  [show with all ESTs]
    Unigene Representative Sequence: NM_182760
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000470751 ENST00000448413(uc003bps.2) ENST00000469888 ENST00000484993
    ENST00000272902(uc003bpz.2 uc011ass.2 uc010hby.2 uc011ast.2)
    ENST00000383843 ENST00000458465 ENST00000405420 ENST00000534863
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    hsa-miR-106a hsa-miR-519a hsa-miR-3150a-3p hsa-miR-124 hsa-miR-93 hsa-miR-330-3p hsa-miR-506 hsa-miR-520g
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    Additional mRNA sequence: 

    AB448737.1 AK057983.1 AK075459.1 AK094111.1 AK295240.1 AK302018.1 AY208752.1 AY323910.1 
    BC017005.2 BC110862.1 BC121122.2 BC121123.2 

    10 DOTS entries:

    DT.100782200  DT.112739  DT.91740147  DT.120874400  DT.100782201  DT.120874382  DT.100839533  DT.100024584 
    DT.100763768  DT.100701154 

    Selected AceView cDNA sequences (see all 112):

    BX381448 NM_182760 AI347010 AY323910 BQ683180 AA905255 AA195080 CR615481 
    BX403255 BX379410 BF725507 AI873170 AY208752 AW590266 BM471268 BM924237 
    BX508211 AK094111 AY358092 AI168477 BM980384 BQ446521 BF001820 BX354887 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SUMF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTGTGTTG
    SUMF1 Expression
    About this image


    SUMF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    SUMF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SUMF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.350475

    UniProtKB/Swiss-Prot: SUMF1_HUMAN, Q8NBK3
    Tissue specificity: Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in
    leukocytes, lung, placenta, small intestine, skeletal muscle and heart

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUMF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SUMF1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sumf11 , 5 sulfatase modifying factor 11, 5 86.13(n)1
    89.6(a)1
      6 (49.71 cM)5
    589111  NM_145937.31  NP_666049.21 
     1081070285 
    chicken
    (Gallus gallus)
    Aves SUMF11 sulfatase modifying factor 1 74.84(n)
    79.25(a)
      100859261  XM_003642022.2  XP_003642070.1 
    lizard
    (Anolis carolinensis)
    Reptilia SUMF16
    sulfatase modifying factor 1
    64(a)
    1 ↔ 1
    2(173468877-173559110)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.155282 Xenopus laevis transcribed sequence with weak similarity more 78.37(n)    BJ054666.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd20g042 Transcribed sequences 74.72(n)    57056785 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70491 CG7049 56.31(n)
    56.96(a)
      38022  NM_138159.4  NP_612003.1 


    ENSEMBL Gene Tree for SUMF1 (if available)
    TreeFam Gene Tree for SUMF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SUMF1 gene
    SUMF22  
    2 SIMAP similar genes for SUMF1 using alignment to 3 protein entries:     SUMF1_HUMAN (see all proteins):
    DKFZP566I1024    SUMF2

    Find genes that share paralogs with SUMF1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SUMF1 (see all 2741)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0190514
    Multiple sulfatase deficiency (MSD)4--see VAR_0190512 A P mis40--------
    VAR_0160604
    Multiple sulfatase deficiency (MSD)4--see VAR_0160602 R W mis40--------
    VAR_0190524
    Multiple sulfatase deficiency (MSD)4--see VAR_0190522 R W mis40--------
    VAR_0160584
    Multiple sulfatase deficiency (MSD)4--see VAR_0160582 A P mis40--------
    VAR_0190504
    Multiple sulfatase deficiency (MSD)4--see VAR_0190502 L F mis40--------
    VAR_0160594
    Multiple sulfatase deficiency (MSD)4--see VAR_0160592 R Q mis40--------
    VAR_0160574
    Multiple sulfatase deficiency (MSD)4--see VAR_0160572 R C mis40--------
    VAR_0190534
    Multiple sulfatase deficiency (MSD)4--see VAR_0190532 N I mis40--------
    VAR_0190544
    Multiple sulfatase deficiency (MSD)4--see VAR_0190542 P L mis40--------
    VAR_0160534
    Multiple sulfatase deficiency (MSD)4--see VAR_0160532 S P mis40--------

    HapMap Linkage Disequilibrium report for SUMF1 (3742498 - 3992498 bp, first 250kb of SUMF1)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SUMF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422450CNV Deletion17116639
    esv1508587CNV Insertion17803354
    nsv876466CNV Loss21882294
    nsv876464CNV Loss21882294
    nsv876467CNV Gain21882294
    nsv876465CNV Gain21882294
    dgv1431e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SUMF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SUMF1
    DNA2.0 Custom Variant and Variant Library Synthesis for SUMF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607939   
    OMIM disorders: 272200  
    UniProtKB/Swiss-Prot: SUMF1_HUMAN, Q8NBK3
  • Multiple sulfatase deficiency (MSD) [MIM:272200]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry. SUMF1
    mutations result in defective post-translational modification of sulfatases

  • 4 diseases for SUMF1:    
    About MalaCards
    mucosulfatidosis    spinocerebellar ataxia type 15    mucolipidosis ii    metachromatic leukodystrophy

    2 diseases from the University of Copenhagen DISEASES database for SUMF1:
    Mucopolysaccharidosis     Metachromatic leukodystrophy

    Find genes that share disorders with SUMF1           About GenesLikeMe

    3 Novoseek inferred disease relationships for SUMF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple sulfatase deficiency 98.6 18 18508857 (2), 17360554 (1), 14563551 (1), 15708861 (1) (see all 13)
    leukodystrophy metachromatic 85.4 1 17206939 (1)
    lysosomal storage diseases 78 1 14563551 (1)

    Genetic Association Database (GAD): SUMF1
    Human Genome Epidemiology (HuGE) Navigator: SUMF1 (1 document)

    Export disorders for SUMF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SUMF1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with SUMF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Multiple sulfatase deficiency is caused by mutations in the gene encoding the Homo sapiens C-alpha-formyglycine-generating enzyme. (PubMed id 12757705)1, 2, 3, 9 Dierks T.... von Figura K. (Cell 2003)
    2. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. (PubMed id 12757706)1, 2, 3 Cosma M.P.... Ballabio A. (Cell 2003)
    3. Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. (PubMed id 18157819)1, 2, 9 Schlotawa L.... Gaertner J. (Hum. Mutat. 2008)
    4. A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme. (PubMed id 16368756)1, 2, 9 Roeser D.... Rudolph M.G. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    5. Molecular characterization of the human Calpha-formylglycine- generating enzyme. (PubMed id 15657036)1, 2, 9 Preusser-Kunze A.... Dierks T. (J. Biol. Chem. 2005)
    6. Sulphatase activities are regulated by the interaction of sulphatase- modifying factor 1 with SUMF2. (PubMed id 15962010)1, 2, 9 Zito E.... Cosma M.P. (EMBO Rep. 2005)
    7. Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. (PubMed id 15907468)1, 2, 9 Dierks T.... Rudolph M.G. (Cell 2005)
    8. Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19. (PubMed id 19262745)1, 2, 9 Oshikawa M.... Kato S. (Mol. Vis. 2009)
    9. Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. (PubMed id 20802204)1, 4 Baranzini S.E....Pelletier D. (Brain 2010)
    10. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 285362 HGNC: 20376 AceView: SUMF1 Ensembl:ENSG00000144455 euGenes: HUgn285362
    ECgene: SUMF1 Kegg: 285362 H-InvDB: SUMF1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SUMF1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SUMF1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SUMF1 gene:
    Search GeneIP for patents involving SUMF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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