SUMF1

Chr 3p26.1

sulfatase modifying factor 1

Aliases:: FGE, UNQ3037
MANE:: ENST00000272902.10

OMIM: 607939 ↗NCBI: 285362 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SUMF1 · Q8NBK3

v62025-08-01

Predicted Aligned Error matrix for SUMF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.6/ 100

Confident

374 residues

Confidence breakdown

Very high(≥ 90)71%
Confident(70–90)5%
Low(50–70)4%
Very low(< 50)20%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Multiple sulfatase deficiency
0.85
mucosulfatidosis
0.74
spinocerebellar ataxia type 15/16
0.42
inherited retinal dystrophy
0.37
hereditary disease
0.34
placenta praevia
0.32
alcohol drinking
0.32
hypertrophic cardiomyopathy
0.29
lower respiratory tract disorder
0.28
tooth disorder
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Formylglycine-generating enzyme

Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:21224894, PubMed:25931126). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:25931126). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15657036, PubMed:15907468)