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    Sumf1 sulfatase modifying factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 58911, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Sumf1provided by MGI
    Official Full Name
    sulfatase modifying factor 1provided by MGI
    Primary source
    MGI:MGI:1889844
    See related
    Ensembl:ENSMUSG00000030101 AllianceGenome:MGI:1889844
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    FGE
    Summary
    Enables formylglycine-generating oxidase activity and identical protein binding activity. Involved in post-translational protein modification. Located in endoplasmic reticulum. Is active in endoplasmic reticulum lumen. Is expressed in several structures, including brain; brown fat; eye; genitourinary system; and gut. Used to study mucosulfatidosis. Human ortholog(s) of this gene implicated in mucosulfatidosis. Orthologous to human SUMF1 (sulfatase modifying factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 10.0), genital fat pad adult (RPKM 8.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sumf1 in Genome Data Viewer
    Location:
    6 E1; 6 49.71 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (108083989..108162552, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (108107021..108185591, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene ARP1 actin-related protein 1 homolog B, centractin beta pseudogene Neighboring gene STARR-seq mESC enhancer starr_16948 Neighboring gene STARR-seq mESC enhancer starr_16949 Neighboring gene STARR-positive B cell enhancer ABC_E9097 Neighboring gene STARR-positive B cell enhancer ABC_E2198 Neighboring gene STARR-positive B cell enhancer ABC_E6463 Neighboring gene SET domain without mariner transposase fusion Neighboring gene ribosomal protein L36, pseudogene 12 Neighboring gene STARR-positive B cell enhancer ABC_E6464 Neighboring gene STARR-positive B cell enhancer ABC_E6465 Neighboring gene STARR-positive B cell enhancer ABC_E2199 Neighboring gene predicted gene, 38872 Neighboring gene inositol 1,4,5-trisphosphate receptor 1 Neighboring gene STARR-positive B cell enhancer mm9_chr6:108228936-108229237 Neighboring gene STARR-positive B cell enhancer ABC_E8120 Neighboring gene STARR-positive B cell enhancer ABC_E3666 Neighboring gene STARR-positive B cell enhancer ABC_E10398 Neighboring gene STARR-seq mESC enhancer starr_16959 Neighboring gene predicted gene, 35165

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. Sorrentino NC, et al. J Inherit Metab Dis, 2023 Mar. PMID 36433920, Free PMC Article
    2. Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Settembre C, et al. Proc Natl Acad Sci U S A, 2007 Mar 13. PMID 17360554, Free PMC Article
    3. Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Di Malta C, et al. Proc Natl Acad Sci U S A, 2012 Aug 28. PMID 22826245, Free PMC Article
    4. Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. Zito E, et al. EMBO J, 2007 May 16. PMID 17446859, Free PMC Article
    5. A block of autophagy in lysosomal storage disorders. Settembre C, et al. Hum Mol Genet, 2008 Jan 1. PMID 17913701

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
      Title: New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
    2. Sumf1(-/-) astrocytes failed to support the survival and function of wild-type cortical neurons, suggesting a non-cell autonomous mechanism for neurodegeneration.
      Title: Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
    3. Sumf1 controls hematopoietic stem progenitor cell differentiation and hematopoietic lineage development through FGF and Wnt signaling.
      Title: Sulfatase modifying factor 1-mediated fibroblast growth factor signaling primes hematopoietic multilineage development.
    4. Sumf1 is indispensable for sulfatase activation in mice and mammals, differently from bacteria, have a single sulfatase modification system
      Title: Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC39076

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cupric ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cupric ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables formylglycine-generating oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables formylglycine-generating oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables formylglycine-generating oxidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables formylglycine-generating oxidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in post-translational protein modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in post-translational protein modification ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in post-translational protein modification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein oxidation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    formylglycine-generating enzyme
    Names
    C-alpha-formylglycine-generating enzyme 1
    NP_001398303.1
    NP_666049.2
    XP_006506507.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001411374.1 → NP_001398303.1  formylglycine-generating enzyme isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC108919
      UniProtKB/TrEMBL
      E9Q265

    2. NM_145937.4 → NP_666049.2  formylglycine-generating enzyme isoform 1 precursor

      See identical proteins and their annotated locations for NP_666049.2

      Status: VALIDATED

      Source sequence(s)
      AC108919
      Consensus CDS
      CCDS51868.1
      UniProtKB/Swiss-Prot
      Q3TTT6, Q3TXM8, Q3U9A5, Q8R0F3
      UniProtKB/TrEMBL
      E9Q265
      Related
      ENSMUSP00000032191.10, ENSMUST00000032191.16
      Conserved Domains (2) summary
      TIGR03525
      Location:89 → 372
      GldK; gliding motility-associated lipoprotein GldK
      pfam03781
      Location:86 → 365
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      108083989..108162552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506444.1 → XP_006506507.1  formylglycine-generating enzyme isoform X1

      Conserved Domains (1) summary
      pfam03781
      Location:86 → 317
      FGE-sulfatase; Sulfatase-modifying factor enzyme 1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R0F3.2 GenPept UniProtKB/Swiss-Prot:Q8R0F3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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