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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SUMF1
sulfatase modifying factor 1
Chromosome 3 Β· 3p26.1
NCBI Gene: 285362Ensembl: ENSG00000144455.15HGNC: HGNC:20376UniProt: Q8NBK3
59PubMed Papers
21Diseases
0Drugs
134Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcupric ion bindingprotein oxidationpost-translational protein modificationMultiple sulfatase deficiencymucosulfatidosisspinocerebellar ataxia type 15/16inherited retinal dystrophy
✦AI Summary

SUMF1 encodes formylglycine-generating enzyme (FGE), a critical oxidase that catalyzes the post-translational conversion of cysteine residues to 3-oxoalanine (formylglycine) in target proteins 12. This modification is essential for activating arylsulfatases and alkaline phosphatases, which use the hydrated 3-oxoalanine form as a catalytic nucleophile 12. Known SUMF1 substrates include GALNS, ARSA, STS, and ARSE 12. SUMF1 functions primarily in the endoplasmic reticulum lumen, where it performs oxidoreductase activity on nascent sulfatases 3. Its localization is controlled through sequential interactions with protein disulfide isomerase, ERGIC-53, and ERp44, which regulate ER retention, activation, and secretion 3. SUMF1 mutations cause multiple sulfatase deficiency (MSD), a rare autosomal-recessive lysosomal storage disorder affecting multi-organ systems 45. Beyond MSD, emerging evidence suggests SUMF1 dysregulation associates with disease severity in COVID-19 through inflammatory pathways 6, cystic fibrosis via the CFTR-linc-SUMF1-2 axis 7, and glioma progression through effects on cell proliferation and immune microenvironment 8. SUMF1 was also identified as a novel biomarker for early Parkinson's disease 9.

Sources cited
1
SUMF1 catalyzes cysteine to 3-oxoalanine/formylglycine conversion in sulfatases
PMID: 12757706
2
Formylglycine modification is essential for sulfatase and alkaline phosphatase catalytic activity
PMID: 15657036
3
SUMF1 trafficking and function controlled by PDI, ERGIC-53, and ERp44 in the ER
PMID: 18508857
4
SUMF1 mutations cause multiple sulfatase deficiency; defines evolutionary conserved gene family
PMID: 14563551
5
MSD presents with multi-organ involvement including ichthyosis, neurological features, and leukodystrophy
PMID: 36959582
6
SUMF1 rs794185 polymorphism associated with COVID-19 severity in Chinese and European populations
PMID: 37344788
7
linc-SUMF1-2 involved in CFTR-dependent gene dysregulation in cystic fibrosis
PMID: 30598261
8
SUMF1 overexpression promotes glioma cell growth and correlates with poor prognosis and immune status
PMID: 38460946
9
SUMF1 identified as biomarker for early Parkinson's disease in proteomics analysis
PMID: 38467937
Disease Associationsβ“˜21
Multiple sulfatase deficiencyOpen Targets
0.84Strong
mucosulfatidosisOpen Targets
0.74Strong
spinocerebellar ataxia type 15/16Open Targets
0.41Moderate
inherited retinal dystrophyOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
alcohol drinkingOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.32Weak
lower respiratory tract diseaseOpen Targets
0.30Weak
hypertrophic cardiomyopathyOpen Targets
0.29Weak
tooth diseaseOpen Targets
0.23Weak
uterine fibroidOpen Targets
0.15Weak
breast carcinomaOpen Targets
0.13Weak
Uterine leiomyomaOpen Targets
0.13Weak
atrial fibrillationOpen Targets
0.11Weak
benign neoplasm of adrenal glandOpen Targets
0.10Weak
atrial flutterOpen Targets
0.10Suggestive
luminal A breast carcinomaOpen Targets
0.10Suggestive
breast diseaseOpen Targets
0.09Suggestive
placental retentionOpen Targets
0.09Suggestive
protozoa infectious diseaseOpen Targets
0.09Suggestive
Multiple sulfatase deficiencyUniProt
Pathogenic Variants134
NM_182760.4(SUMF1):c.955-3_970delPathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2026
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)Pathogenic
Multiple sulfatase deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 155
NM_182760.4(SUMF1):c.896G>A (p.Trp299Ter)Pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 299
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)Pathogenic
Multiple sulfatase deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 279
NM_182760.4(SUMF1):c.955-2A>GLikely pathogenic
Multiple sulfatase deficiency|SUMF1-related disorder
β˜…β˜…β˜†β˜†2026
NM_182760.4(SUMF1):c.519+5_519+8delPathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025
NM_182760.4(SUMF1):c.602+1G>APathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025
NM_182760.4(SUMF1):c.706C>T (p.Arg236Ter)Pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 236
NM_182760.4(SUMF1):c.271-1G>CLikely pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025
NM_182760.4(SUMF1):c.603-2delPathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)Pathogenic
Multiple sulfatase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 231
NM_182760.4(SUMF1):c.156C>A (p.Cys52Ter)Pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 52
NM_182760.4(SUMF1):c.451A>G (p.Lys151Glu)Likely pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 151
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)Pathogenic
Multiple sulfatase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 349
NM_182760.4(SUMF1):c.520-1G>CLikely pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)Pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys)Pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 345
NM_182760.4(SUMF1):c.536G>A (p.Trp179Ter)Pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 179
NM_182760.4(SUMF1):c.840+1G>ALikely pathogenic
Multiple sulfatase deficiency
β˜…β˜…β˜†β˜†2025
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys)Pathogenic
Multiple sulfatase deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 113
View on ClinVar β†—
Related Genes
ITPR1Protein interaction99%SUMF2Protein interaction97%ARSAProtein interaction96%ARSBProtein interaction96%GALNSProtein interaction96%ARSGProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
79%
Ovary
70%
Bone Marrow
59%
Heart
45%
Brain
38%
Gene Interaction Network
Click a node to explore
SUMF1ITPR1SUMF2ARSAARSBGALNSARSG
PROTEIN STRUCTURE
Preparing viewer…
PDB5SSX Β· 1.02 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.25LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.99 [0.78–1.25]
RankingsWhere SUMF1 stands among ~20K protein-coding genes
  • #7,822of 20,598
    Most Researched59
  • #577of 5,498
    Most Pathogenic Variants134 Β· top quartile
  • #13,226of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedSUMF1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson's disease.
PMID: 38467937
Acta Neuropathol Β· 2024
1.00
2
Association between SUMF1 polymorphisms and COVID-19 severity.
PMID: 37344788
BMC Genom Data Β· 2023
0.90
3
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.
PMID: 14563551
Gene Β· 2003
0.80
4
Integrative expression analysis identifies a novel interplay between CFTR and linc-SUMF1-2 that involves CF-associated gene dysregulation.
PMID: 30598261
Biochem Biophys Res Commun Β· 2019
0.70
5
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
PMID: 36959582
BMC Pediatr Β· 2023
0.60