SUMF1

Protein identityUniProt · HPA

UniProt accession

Q8NBK3

Gene

SUMF1

Ensembl

ENSG00000144455

Chromosome

3

Canonical length

374 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Secretome location

Intracellular and membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

374 residues, UniProt reviewed canonical sequence.

>Q8NBK3|SUMF1
     1  MAAPALGLVC GRCPELGLVL LLLLLSLLCG AAGSQEAGTG AGAGSLAGSC GCGTPQRPGA
    61  HGSSAAAHRY SREANAPGPV PGERQLAHSK MVPIPAGVFT MGTDDPQIKQ DGEAPARRVT
   121  IDAFYMDAYE VSNTEFEKFV NSTGYLTEAE KFGDSFVFEG MLSEQVKTNI QQAVAAAPWW
   181  LPVKGANWRH PEGPDSTILH RPDHPVLHVS WNDAVAYCTW AGKRLPTEAE WEYSCRGGLH
   241  NRLFPWGNKL QPKGQHYANI WQGEFPVTNT GEDGFQGTAP VDAFPPNGYG LYNIVGNAWE
   301  WTSDWWTVHH SVEETLNPKG PPSGKDRVKK GGSYMCHRSY CYRYRCAARS QNTPDSSASN
   361  LGFRCAADRL PTMD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SUMF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SUMF1.

Disease | AllUniProt

Conditions SUMF1 is implicated in, by any mechanism.

• Multiple sulfatase deficiency (MSD) MIM:272200

Disease | GeneticClinVar

134 pathogenic / likely-pathogenic of 825 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Multiple sulfatase deficiency
• SUMF1-related disorder
• Spinocerebellar ataxia type 15/16

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.07

gnomAD pLI

0

gnomAD missense Z

-0.5

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glycosphingolipid catabolic process
• post-translational protein modification
• protein oxidation

Molecular functions

• cupric ion binding
• identical protein binding
• oxidoreductase activity
• formylglycine-generating oxidase activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum lumen
• membrane

Protein domainsUniProt · Pfam · InterPro

• Sulfatase-modifying factor enzyme-like domain
• C-type lectin fold
• Sulfatase-modifying factor enzyme superfamily
• Sulfatase Modifying Factor and Kinase
• Sulfatase-modifying factor enzyme 1-like domain

KeywordsUniProt

• Calcium
• Copper
• Disulfide bond
• Endoplasmic reticulum
• Glycoprotein
• Ichthyosis
• Leukodystrophy
• Metachromatic leukodystrophy
• Metal-binding
• Mucopolysaccharidosis
• Oxidoreductase
• Signal

InteractionsUniProt · HPA

Protein binding partners of SUMF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARSA