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

Gene ID: 58911, updated on 21-Apr-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 identical protein binding activity. Predicted to be involved in post-translational protein modification and protein oxidation. Located in endoplasmic reticulum. 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, Apr 2022]
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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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. 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
  3. 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
  4. Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases. de Pablo-Latorre R, et al. Hum Mol Genet, 2012 Apr 15. PMID 22215441, 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 (35) 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 formylglycine-generating oxidase activity ISO
Inferred from Sequence Orthology
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 metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in post-translational protein modification ISO
Inferred from Sequence Orthology
more info
  
involved_in protein oxidation ISO
Inferred from Sequence Orthology
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
  

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

  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

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