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SUMF1 sulfatase modifying factor 1 [ Homo sapiens (human) ]

Gene ID: 285362, updated on 8-May-2016
Official Symbol
SUMF1provided by HGNC
Official Full Name
sulfatase modifying factor 1provided by HGNC
Primary source
HGNC:HGNC:20376
See related
Ensembl:ENSG00000144455 HPRD:06399; MIM:607939; Vega:OTTHUMG00000090269
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FGE; UNQ3037; AAPA3037
Summary
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]
Orthologs
Location:
3p26.1
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (4065934..4467282, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (4402829..4508966, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723512 Neighboring gene uncharacterized LOC105376930 Neighboring gene uncharacterized LOC105377640 Neighboring gene uncharacterized LOC105376929 Neighboring gene SET domain and mariner transposase fusion gene Neighboring gene mitochondrial ribosomal protein S10 pseudogene 2 Neighboring gene ITPR1 antisense RNA 1 (head to head) Neighboring gene inositol 1,4,5-trisphosphate receptor type 1 Neighboring gene uncharacterized LOC105376933

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Multiple sulfatase deficiency
MedGen: C0268263 OMIM: 272200 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
  • Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
    Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
  • The activation of arylsulfatases, organism-specific biosystem (from REACTOME)
    The activation of arylsulfatases, organism-specific biosystemSulfatase activity requires a unique posttranslational modification (PTM) of a catalytic cysteine residue into a formylglycine. This modification is impaired in patients with multiple sulfatase defic...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC131853, MGC150436

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity TAS
Traceable Author Statement
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
Preferred Names
sulfatase-modifying factor 1
Names
C-alpha-formylglycine-generating enzyme 1
FGly-generating enzyme
NP_001158146.1
NP_001158147.1
NP_877437.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016225.1 RefSeqGene

    Range
    5001..111138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164674.1NP_001158146.1  sulfatase-modifying factor 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001158146.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AC034191, AK302018, CA413741, DA844846
    Consensus CDS
    CCDS54548.1
    UniProtKB/Swiss-Prot
    Q8NBK3
    Related
    ENSP00000373355, OTTHUMP00000207089, ENST00000383843, OTTHUMT00000337992
    Conserved Domains (2) summary
    TIGR03530
    Location:43341
    GldJ_short; gliding motility-associated lipoprotein GldJ
    pfam03781
    Location:91342
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
  2. NM_001164675.1NP_001158147.1  sulfatase-modifying factor 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AC034191, BC121123, CA413741, DA844846
    Consensus CDS
    CCDS54549.1
    UniProtKB/Swiss-Prot
    Q8NBK3
    Related
    ENSP00000384977, OTTHUMP00000207086, ENST00000405420, OTTHUMT00000337989
    Conserved Domains (2) summary
    COG1262
    Location:78348
    YfmG; Formylglycine-generating enzyme, required for sulfatase activity, contains SUMF1/FGE domain [Posttranslational modification, protein turnover, chaperones]
    pfam03781
    Location:91347
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
  3. NM_182760.3NP_877437.2  sulfatase-modifying factor 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_877437.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC034191, BC121122, CA413741, DA844846
    Consensus CDS
    CCDS2564.1
    UniProtKB/Swiss-Prot
    Q8NBK3
    Related
    ENSP00000272902, OTTHUMP00000115300, ENST00000272902, OTTHUMT00000206591
    Conserved Domains (2) summary
    TIGR03530
    Location:43366
    GldJ_short; gliding motility-associated lipoprotein GldJ
    pfam03781
    Location:91367
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    4065934..4467282 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533623.1XP_011531925.1  

    Conserved Domains (2) summary
    COG1262
    Location:78310
    YfmG; Formylglycine-generating enzyme, required for sulfatase activity, contains SUMF1/FGE domain [Posttranslational modification, protein turnover, chaperones]
    pfam03781
    Location:91347
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
  2. XM_011533624.1XP_011531926.1  

    Related
    ENSP00000404384, OTTHUMP00000207088, ENST00000448413, OTTHUMT00000337991
    Conserved Domains (3) summary
    COG1262
    Location:78310
    YfmG; Formylglycine-generating enzyme, required for sulfatase activity, contains SUMF1/FGE domain [Posttranslational modification, protein turnover, chaperones]
    pfam03781
    Location:91347
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
    cl17169
    Location:346421
    RRM_SF; RNA recognition motif (RRM) superfamily
  3. XM_011533625.1XP_011531927.1  

    Conserved Domains (2) summary
    COG1262
    Location:78310
    YfmG; Formylglycine-generating enzyme, required for sulfatase activity, contains SUMF1/FGE domain [Posttranslational modification, protein turnover, chaperones]
    pfam03781
    Location:91339
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
  4. XM_011533626.1XP_011531928.1  

    Conserved Domains (2) summary
    COG1262
    Location:78310
    YfmG; Formylglycine-generating enzyme, required for sulfatase activity, contains SUMF1/FGE domain [Posttranslational modification, protein turnover, chaperones]
    pfam03781
    Location:91337
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    4352916..4459038 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)