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

    Gene ID: 285362, updated on 8-Jul-2021

    Summary

    Official Symbol
    SUMF1provided by HGNC
    Official Full Name
    sulfatase modifying factor 1provided by HGNC
    Primary source
    HGNC:HGNC:20376
    See related
    Ensembl:ENSG00000144455 MIM:607939
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 5.9), thyroid (RPKM 5.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SUMF1 in Genome Data Viewer
    Location:
    3p26.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (4034714..4467270, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (4402830..4508953, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986007 Neighboring gene leucine rich repeat neuronal 1 Neighboring gene uncharacterized LOC102723512 Neighboring gene polyribonucleotide nucleotidyltransferase 1 pseudogene 1 Neighboring gene uncharacterized LOC107986008 Neighboring gene Sharpr-MPRA regulatory region 4455 Neighboring gene SET domain and mariner transposase fusion gene Neighboring gene mitochondrial ribosomal protein S10 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 14798 Neighboring gene ITPR1 divergent transcript Neighboring gene inositol 1,4,5-trisphosphate receptor type 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
    GeneReviews: Not available
    Genome-wide association study of chronic periodontitis in a general German population.
    GeneReviews: Not available
    Multiple sulfatase deficiency
    MedGen: C0268263 OMIM: 272200 GeneReviews: Multiple Sulfatase Deficiency
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC131853, MGC150436

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Formylglycine-generating oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cupric ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    formylglycine-generating enzyme
    Names
    C-alpha-formylglycine-generating enzyme 1
    FGly-generating enzyme
    NP_001158146.1
    NP_001158147.1
    NP_877437.2
    XP_011531926.1
    XP_011531927.1
    XP_011531928.1
    XP_016861741.1
    XP_016861742.1
    XP_016861743.1
    XP_016861744.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016225.2 RefSeqGene

      Range
      5014..111137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164674.2NP_001158146.1  formylglycine-generating enzyme 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
      ENSP00000373355.5, ENST00000383843.9
      Conserved Domains (2) summary
      TIGR03525
      Location:91349
      GldK; gliding motility-associated lipoprotein GldK
      pfam03781
      Location:91342
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
    2. NM_001164675.2NP_001158147.1  formylglycine-generating enzyme 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
      ENSP00000384977.2, ENST00000405420.2
      Conserved Domains (2) summary
      TIGR03525
      Location:91354
      GldK; gliding motility-associated lipoprotein GldK
      pfam03781
      Location:91347
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
    3. NM_182760.4NP_877437.2  formylglycine-generating enzyme 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
      Consensus CDS
      CCDS2564.1
      UniProtKB/Swiss-Prot
      Q8NBK3
      Related
      ENSP00000272902.5, ENST00000272902.10
      Conserved Domains (2) summary
      TIGR03525
      Location:91374
      GldK; gliding motility-associated lipoprotein GldK
      pfam03781
      Location:91367
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      4034714..4467270 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006254.2XP_016861743.1  formylglycine-generating enzyme isoform X4

      Related
      ENSP00000404384.1, ENST00000448413.5
      Conserved Domains (1) summary
      pfam03781
      Location:91347
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
    2. XM_017006253.1XP_016861742.1  formylglycine-generating enzyme isoform X3

      Conserved Domains (2) summary
      pfam03781
      Location:91322
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
      cl17169
      Location:321396
      RRM_SF; RNA recognition motif (RRM) superfamily
    3. XM_017006252.2XP_016861741.1  formylglycine-generating enzyme isoform X2

      Conserved Domains (2) summary
      pfam03781
      Location:91324
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
      cl17169
      Location:326401
      RRM_SF; RNA recognition motif (RRM) superfamily
    4. XM_011533624.3XP_011531926.1  formylglycine-generating enzyme isoform X1

      Conserved Domains (2) summary
      pfam03781
      Location:91347
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
      cl17169
      Location:346421
      RRM_SF; RNA recognition motif (RRM) superfamily
    5. XM_011533625.3XP_011531927.1  formylglycine-generating enzyme isoform X5

      Conserved Domains (1) summary
      pfam03781
      Location:91339
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
    6. XM_017006255.2XP_016861744.1  formylglycine-generating enzyme isoform X7

      Conserved Domains (1) summary
      pfam03781
      Location:91337
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
    7. XM_011533626.3XP_011531928.1  formylglycine-generating enzyme isoform X6

      Conserved Domains (1) summary
      pfam03781
      Location:91337
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
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