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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SUMF1 Gene

protein-coding   GIFtS: 59
GCID: GC03M003742

sulfatase modifying factor 1

 Explore 17 diseases affiliated with
SUMF1 via our new
 Human Malady Compendium 
Biological research products
for SUMF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sulfatase Modifying Factor 11 2     AAPA30372
FGE1 2 3 5     FGly-Generating Enzyme2
C-Alpha-Formylglycine-Generating Enzyme 12 3     Sulfatase-Modifying Factor 12
UNQ30371     EC 1.8.99.-3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SUMF1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SUMF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Endoplasmic reticulum lumen
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
6/14 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

Post-translational modifications:

  • N-glycosylated. Contains high-mannose-type oligosaccharides1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NBK3

  • SUMF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for SUMF1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    SUMF1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SUMF1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    Catalytic activity: [sulfatase]-cysteine + acceptor = [sulfatase]-3-oxoalanine + reduced acceptor

    Enzyme Number (IUBMB): EC 1.8.99.-1

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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--


    SUMF1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Sumf1tm1Lex for SUMF1
         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sumf1):
     behavior/neurological  cellular  craniofacial  growth/size  hematopoietic system 
     immune system  limbs/digits/tail  liver/biliary system  mortality/aging  nervous system 
     skeleton 

    SUMF1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    Sphingolipid metabolism1.00
    Glycosphingolipid metabolism0.54
    2PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation1.00
    The activation of arylsulfatases0.46
    3Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    4Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.15
    5Lysosome
    Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for SUMF1 (see all 8)
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    Metabolism of proteins


    1         Kegg Pathway  (Kegg details for SUMF1):
        Lysosome

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


    SUMF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SUMF1

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

    5/29 Interacting proteins for SUMF1 (Q8NBK32, 3 ENSP000002729024) via UniProtKB, MINT, STRING, and/or I2D (see all 29)

    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--


    SUMF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SUMF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SUMF1
    4 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SUMF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 cDNA 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 

    24/112 AceView cDNA sequences (see all 112):

    AI347010 BX381448 BX379410 AA195080 CR615481 AY208752 AI873170 BX403255 
    BQ683180 AA905255 NM_182760 AY323910 BF725507 BE271837 BX349149 BU628423 
    AI627833 CA425710 CF529064 AI767341 AI471443 AW183622 AW237610 BQ005985 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SUMF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTGTGTTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SUMF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SUMF1

    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
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SUMF1 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sumf11 , 5 sulfatase modifying factor 11, 5 84.59(n)1
    86.56(a)1
      6 (49.71 cM)5
    589111  NM_145937.31  NP_666049.21 
     1081070285 
    chicken
    (Gallus gallus)
    Aves LOC1008592611 sulfatase-modifying factor 1-like 73.14(n)
    76.47(a)
      100859261  XM_003642022.1  XP_003642070.1 
    lizard
    (Anolis carolinensis)
    Reptilia SUMF16
    --
    81(a)
    1 ↔ 1
    2(173489996-173574647)
    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 56.94(n)
    57.7(a)
      38022  NM_138159.3  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)
    About This Section
    Paralogs for SUMF1 gene
    SUMF22  
    2 SIMAP similar genes for SUMF1 using alignment to 3 protein entries:     SUMF1_HUMAN (see all proteins):
    DKFZP566I1024    SUMF2

    SUMF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2277 NCBI SNPs in SUMF1 are shown (see all 2277    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378528491,2
    C,pathogenic16292625(-) AACTGC/TGCCTG 6 A V mis11Minor allele frequency- T:0.00NA 4552
    rs98256051,2
    C,F,H,--4335902(+) TTCTTT/ACAAAT 3 -- ds50017Minor allele frequency- A:0.12NS EA NA WA 542
    rs170404921,2
    C,F,H,--4336074(+) TTGACT/GTGGCA 3 -- ds50017Minor allele frequency- G:0.01NA NS EA 556
    rs566715171,2
    C,--4336222(+) CAAATA/CAAACA 3 -- ds50012Minor allele frequency- C:0.04WA 120
    rs790319511,2
    C,F,--4336495(+) CGTTCG/ACTGAA 3 -- ut311Minor allele frequency- A:0.07WA 118
    rs730220331,2
    C,--4336732(+) CACACC/TCCTCT 3 -- ut312Minor allele frequency- T:0.05NA 122
    rs105146551,2
    C,F,H,--4336748(+) AAATAA/CTACAT 3 -- ut3197Minor allele frequency- C:0.02NS EA PA EU CA WA NA 5788
    rs170405041,2
    C,F,H,--4336782(+) TTAGTA/GTCACT 3 -- ut319Minor allele frequency- G:0.02NA NS EA CSA WA 681
    rs1130564541,2
    C,--4336904(+) CCAGAG/CGTCAT 3 -- ut311Minor allele frequency- C:0.50NA 2
    rs1112570101,2
    --4337003(+) CCTGCG/ATAGGA 3 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for SUMF1 (3742498 - 3992498 bp, first 250kb of SUMF1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SUMF1
         1 CNV: 3416
    Human Gene Mutation Database (HGMD): SUMF1

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    (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.)
    About This Section

    SUMF1 for disorders           About GeneDecksing

    OMIM gene information: 607939   
    OMIM disorders: 272200  
    UniProtKB/Swiss-Prot: SUMF1_HUMAN, Q8NBK3
  • Defects in SUMF1 are the cause of multiple sulfatase deficiency (MSD) [MIM:272200]. MSD is 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. Inheritance is autosomal recessive

    17 diseases for SUMF1:    About MalaCards
    x-linked ichthyosis    lysosomal storage disease    metachromatic leukodystrophy    chondrodysplasia punctata
    mucolipidosis ii    mucolipidosis    leukodystrophy    chondrodysplasia
    ichthyosis    spinocerebellar ataxia    mucopolysaccharidosis    multiple sclerosis
    ataxia    neurodegeneration    retinitis    tuberculosis
    mycobacterium tuberculosis

    3 diseases from the University of Copenhagen DISEASES database for SUMF1:
    Mucopolysaccharidosis     Metachromatic leukodystrophy     X-linked ichthyosis

    3 Novoseek 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)

    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)
    About This Section

    PubMed articles for SUMF1 gene, integrated from 9 sources (see all 52):
    (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. (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. (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. (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. (2006)
    5. Molecular characterization of the human Calpha-formylglycine- generating enzyme. (PubMed id 15657036)1, 2, 9 Preusser-Kunze A.... Dierks T. (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. (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. (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. (2009)
    9. 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. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SUMF1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SUMF1

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