Basic Information

Symbol
SUMF1
RNA class
mRNA
Alias
Sulfatase Modifying Factor 1 FGE UNQ3037 C-Alpha-Formylglycine-Generating Enzyme 1 Formylglycine-Generating Enzyme Sulfatase-Modifying Factor 1 FGly-Generating Enzyme EC 1.8.3.7 AAPA3037
Location (GRCh38)
3:3700814-4467273
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Drug abuse diagnoses
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_182760.4
Sequence length
2147.0 nt
GC content
0.5119

Transcripts

ID Sequence Length GC content
NM_001164674.2 NCBI
GGGUCACAUGGCCCGCGGGACAACAUGGCUGCGCCCGCACUAGGGCUGG… 2072 nt 0.5140
NM_001164675.2 NCBI
GGGUCACAUGGCCCGCGGGACAACAUGGCUGCGCCCGCACUAGGGCUGG… 2087 nt 0.5117
NM_182760.4 NCBI
GGGUCACAUGGCCCGCGGGACAACAUGGCUGCGCCCGCACUAGGGCUGG… 2147 nt 0.5119
Summary

This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Forensic Context

A single-nucleus transcriptomics study of human postmortem nucleus accumbens tissue identified the SUMF1 as a protein-coding gene significantly upregulated in microglia (MGL) cell types from individuals with alcohol use disorder compared to controls [Van Den Oord et al. DOI:10.1111/Adb.13250].