Property Summary

NCBI Gene PubMed Count 35
Grant Count 10
R01 Count 5
Funding $690,409.61
PubMed Score 149.54
PubTator Score 58.51

Knowledge Summary

Patent

No data available

Expression

Gene RIF (23)

PMID Text
26077311 SUMF1 catalyses a monooxygenase type of reaction.
25931126 The complete kinetic parameters for both forms of FGE are described, along with a proposed mechanism for FGE catalysis that accounts for the copper-dependent activity.
25885655 This detailed clinical description and follow-up of a cohort of patients, together with the molecular characterisation of their underlying defects, contribute to improved knowledge of multiple sulfatase deficiency.
25516103 MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G
25222778 A novel missense mutation & an insertional truncating mutation in SUMF1 gene causing nultiple sulphatase deficiency.
23288839 furin-mediated processing of FGE during secretion is a physiological means of higher eukaryotic cells to regulate FGE activity upon exit from the endoplasmic reticulum
21224894 Phenotypic outcome in Multiple Sulfatase Deficiency depends on both residual FGE activity as well as protein stability.
20802204 This study identified genetic variation of SUMF1 in genes associated with in vivo glutamate measured using 1H magnetic resonance spectroscopic imaging in the grey matter of patients with multiple sclerosis.
20802204 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18579805 We have identified a 414-kb deletion including the entire ITPR1 and exon 1 of SUMF1 in patients in a Japanese family with Spinocerebellar ataxia type 15.
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AA Sequence

MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRY      1 - 70
SREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFV     71 - 140
NSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVS    141 - 210
WNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAP    211 - 280
VDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARS    281 - 350
QNTPDSSASNLGFRCAADRLPTMD                                                  351 - 374
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Text Mined References (37)

PMID Year Title
26077311 2015 Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25931126 2015 Reconstitution of Formylglycine-generating Enzyme with Copper(II) for Aldehyde Tag Conversion.
25885655 2015 Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
25516103 2014 Multiple sulfatase deficiency with neonatal manifestation.
25222778 2014 Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23288839 2013 Proprotein convertases process and thereby inactivate formylglycine-generating enzyme.
21224894 2011 SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
20802204 2010 Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
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