SUMF1
entrez
285362
canonical
uniprot
Q8NBK3
canonical
ensembl
ENSG00000144455
resolver
ensp
ENSP00000272902
resolver
ensp
ENSP00000373355
resolver
ensp
ENSP00000384977
resolver
ensp
ENSP00000404384
resolver
ensp
ENSP00000603352
resolver
ensp
ENSP00000724371
resolver
ensp
ENSP00000778118
resolver
genesymbol
SUMF1
resolver
hgnc
HGNC:20376
resolver
uniprot
B4DXK5
resolver
uniprot
B7XD05
resolver
uniprot
E9PGL0
resolver
uniprot
G5E9B0
resolver
uniprot
Q0VAC6
resolver
uniprot
Q0VAC7
resolver
uniprot
Q2NL78
resolver
uniprot
Q53ZE4
resolver
uniprot
Q6UY39
resolver
uniprot
Q96AK5
resolver
uniprot
Q96DK8
resolver
uniprot_entry
SUMF1_HUMAN
resolver
uniprot_sec
B4DXK5
resolver
uniprot_sec
B7XD05
resolver
uniprot_sec
E9PGL0
resolver
uniprot_sec
G5E9B0
resolver
uniprot_sec
Q0VAC6
resolver
uniprot_sec
Q0VAC7
resolver
uniprot_sec
Q2NL78
resolver
uniprot_sec
Q53ZE4
resolver
uniprot_sec
Q6UY39
resolver
uniprot_sec
Q96AK5
resolver
uniprot_sec
Q96DK8
resolver
amino_acid_sequence
MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD
uniprot
proteins
disease_involvement
DISEASE: Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. {ECO:0000269|PubMed:12757705, ECO:0000269|PubMed:12757706, ECO:0000269|PubMed:15146462, ECO:0000269|PubMed:18157819, ECO:0000269|PubMed:21224894}. Note=The disease is caused by variants affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases. {ECO:0000269|PubMed:12757706}.
uniprot
proteins
ec_number
1.8.3.7
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:12757706, ECO:0000269|PubMed:15657036, ECO:0000269|PubMed:15907468, ECO:0000269|PubMed:16368756, ECO:0000269|PubMed:21224894, ECO:0000269|PubMed:25931126}.
uniprot
proteins
mass_dalton
40556
uniprot
proteins
mutagenesis
MUTAGEN 333; /note="S->A: Loss of activity."; /evidence="ECO:0000269|PubMed:15907468"; MUTAGEN 333; /note="S->T: Reduces activity by 99%."; /evidence="ECO:0000269|PubMed:15907468"; MUTAGEN 336; /note="C->S: Loss of activity."; /evidence="ECO:0000269|PubMed:15907468"; MUTAGEN 337; /note="H->A: Reduces activity 5-fold."; /evidence="ECO:0000269|PubMed:15907468"; MUTAGEN 340; /note="Y->F: No effect."; /evidence="ECO:0000269|PubMed:15907468"; MUTAGEN 341; /note="C->S: Loss of activity."; /evidence="ECO:0000269|PubMed:15907468
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; sulfatase oxidation. {ECO:0000269|PubMed:12757706, ECO:0000269|PubMed:15657036, ECO:0000269|PubMed:15907468, ECO:0000269|PubMed:25931126}.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. Contains high-mannose-type oligosaccharides. {ECO:0000269|PubMed:15657036, ECO:0000269|PubMed:15907468, ECO:0000269|PubMed:19159218}.
uniprot
proteins
protein_family
Sulfatase-modifying factor family
uniprot
proteins
pubmed
12757705
uniprot
proteins
pubmed
12757706
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15146462
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15657036
uniprot
proteins
pubmed
15907468
uniprot
proteins
pubmed
15962010
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16368756
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18157819
uniprot
proteins
pubmed
18266766
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19262745
uniprot
proteins
pubmed
21224894
uniprot
proteins
pubmed
25931126
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
374
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:15657036, ECO:0000269|PubMed:15962010, ECO:0000269|PubMed:18266766, ECO:0000269|PubMed:21224894}.
uniprot
proteins