Property Summary

NCBI Gene PubMed Count 35
PubMed Score 149.54
PubTator Score 58.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
posterior fossa group A ependymoma 1.300 1.2e-07
tuberculosis 1.200 5.1e-06
intraductal papillary-mucinous neoplasm ... 1.300 8.9e-03
group 4 medulloblastoma -1.100 7.2e-03
pilocytic astrocytoma 1.200 5.8e-05
subependymal giant cell astrocytoma 2.100 1.3e-02
ovarian cancer 1.400 7.2e-03

Protein-protein Interaction (6)

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.
18509892 This study present clinical findings of two consanguineous patients with multiple sulfatase deficiency. They were found to be homozygous for a novel missense mutation c.739G > C causing a p.G247R amino acid substitution in the SUMF1 protein.
18508857 Study shows that SUMF1 interacts with protein disulfide isomerase (PDI) and ERp44, two thioredoxin family members residing in the early secretory pathway, and with ERGIC-53, a lectin that shuttles between the ER and the Golgi.
18305113 the non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum
18178549 ERp44-mediated retention of FGE, indicating that noncovalent interactions between ERp44 and FGE are sufficient to mediate ER retention.
18157819 Molecular analysis of sulfatase modifying factor 1 mutations.
17932120 Our data provide evidence that haploinsufficiency of ITPR1 alone, but not SUMF1, causes SCA16 and SCA15.
17657823 Complete loss of SUMF1 function is likely to be lethal in humans.
17446859 study demonstrates that upon secretion, SUMF1 can be taken up from the medium by several cell lines; following its uptake, SUMF1 shuttles from the plasma membrane to the endoplasmic reticulum
17206939 co-delivery of SUMF1 may enhance the efficacy of gene therapy in several sulfatase deficiencies
15962010 Sulphatase-modifying factor 1 interacts with SUMF2 to regulate sulphatase activities
15907468 FGE is a single-domain monomer with a surprising paucity of secondary structure and adopts a unique fold. The effect of all 18 missense mutations found in MSD patients is explained by the FGE structure, providing a molecular basis of MSD.
15657036 characterization of the human Calpha-formylglycine-generating enzyme
15146462 mutational analysis of SUMF1 in 20 Multiple sulfatase deficiency patients of different ethnic origin

AA Sequence

MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGAHGSSAAAHRY      1 - 70
SREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVTIDAFYMDAYEVSNTEFEKFV     71 - 140
NSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWWLPVKGANWRHPEGPDSTILHRPDHPVLHVS    141 - 210
WNDAVAYCTWAGKRLPTEAEWEYSCRGGLHNRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAP    211 - 280
VDAFPPNGYGLYNIVGNAWEWTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARS    281 - 350
QNTPDSSASNLGFRCAADRLPTMD                                                  351 - 374
//

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.
19262745 2009 Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
18509892 2008 Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
18508857 2008 Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
18305113 2008 The non-catalytic N-terminal extension of formylglycine-generating enzyme is required for its biological activity and retention in the endoplasmic reticulum.
18178549 2008 ERp44 mediates a thiol-independent retention of formylglycine-generating enzyme in the endoplasmic reticulum.
18157819 2008 Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
17932120 2008 Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.
17657823 2007 Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
17446859 2007 Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
17206939 2007 SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16368756 2006 A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15962010 2005 Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.
15907468 2005 Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
15657036 2005 Molecular characterization of the human Calpha-formylglycine-generating enzyme.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146462 2004 Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12757706 2003 The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
12757705 2003 Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8012384 1994 Purification of CpG islands using a methylated DNA binding column.