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Gene

SUMF1

sulfatase modifying factor 1

Summary

Cytogenetic location
3p26.1
Coordinates
Chromosome 3: 4,361,146–4,467,269 (GRCh38)
Exons
9 exons across 106.1 kb
Protein
374 amino acids
Also known as
FGE, UNQ3037
MANE Select transcript
ENST00000272902.10NM_182760.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Lysosomal Storage Disease

      • Lysosomal storage disease (other and unspecified types)

        One of 59 genes linked to it

        Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

        • ClinGen rates the link definitive
        • 6 GenCC submitters rate it definitive or strong

    How SUMF1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 3, with a bracket where SUMF1 sits. SUMF1 and 2 genes near it on chromosome 3, from 3,914,208 to 4,914,207.Chromosome 33p26.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q294 Mb4.2 Mb4.4 Mb4.6 Mb4.8 MbSETMAR: 4,303,304–4,321,454, forward strandSETMARSUMF1: 4,361,146–4,467,269, reverse strandSUMF1ITPR1: 4,493,345–4,847,518, forward strandITPR1Diagram of SUMF1: 9 exons on the reverse strand of chromosome 3Exon 9: 8 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 6: 21 known disease-causing sitesExon 5: 16 known disease-causing sitesExon 4: 13 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 13 known disease-causing sitesExon 1: 35 known disease-causing sitesExon 9: 4,361,146–4,362,254, 1,109 basesExon 8: 4,376,330–4,376,389, 60 basesExon 7: 4,410,865–4,410,978, 114 basesExon 6: 4,417,128–4,417,242, 115 basesExon 5: 4,418,010–4,418,132, 123 basesExon 4: 4,420,064–4,420,146, 83 basesExon 3: 4,449,266–4,449,340, 75 basesExon 2: 4,452,876–4,453,049, 174 basesExon 1: 4,466,976–4,467,269, 294 bases9864215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 2.1 kb of the gene's 106.1 kb; 1,125 of those bases code for the protein.

    How a genome test reads SUMF1

    144

    positions in SUMF1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 106.1 kb of SUMF1, introns included, not only the 2.1 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). SUMF1 gene: sulfatase modifying factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/sumf1

    Vancouver

    Dante Labs. SUMF1 gene: sulfatase modifying factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sumf1

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