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. [provid... See more...

Aliases for SUMF1 Gene

Aliases for SUMF1 Gene

  • Sulfatase Modifying Factor 1 2 3 5
  • FGE 2 3 4
  • C-Alpha-Formylglycine-Generating Enzyme 1 3 4
  • Formylglycine-Generating Enzyme 3 4
  • UNQ3037 2 3
  • Sulfatase-Modifying Factor 1 4
  • FGly-Generating Enzyme 3
  • EC 1.8.3.7 4
  • AAPA3037 3
  • SUMF1 5

External Ids for SUMF1 Gene

Previous GeneCards Identifiers for SUMF1 Gene

  • GC03M004394
  • GC03M004377
  • GC03M003844
  • GC03M003742

Summaries for SUMF1 Gene

Entrez Gene Summary for SUMF1 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]

GeneCards Summary for SUMF1 Gene

SUMF1 (Sulfatase Modifying Factor 1) is a Protein Coding gene. Diseases associated with SUMF1 include Multiple Sulfatase Deficiency and Metachromatic Leukodystrophy. Among its related pathways are Lysosome and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is SUMF2.

UniProtKB/Swiss-Prot Summary for SUMF1 Gene

  • 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:25931126, PubMed:16368756, PubMed:21224894). 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:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15907468, PubMed:15657036).

Gene Wiki entry for SUMF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUMF1 Gene

Genomics for SUMF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUMF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J004466 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 610.7 +0.5 460 2 SP1 GATAD2A PRDM10 REST ZNF629 TFE3 SIX5 NFKBIZ POLR2A ZNF692 SUMF1 lnc-SUMF1-3 SETMAR ITPR1 piR-35371-007
GH03J004355 Enhancer 0.9 Ensembl ENCODE 51.6 +111.4 111381 2.2 MTA1 ZNF24 DPF2 HDAC1 SOX6 FOXJ2 EP300 ZNF766 CTBP1 JUND SUMF1 piR-40110-477 piR-61580-433 SETMAR
GH03J004302 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 21.9 +163.4 163381 2.6 SP1 SIX5 IKZF1 POLR2A BACH1 JUND LARP7 ZNF143 RBFOX2 PKNOX1 SETMAR piR-61676-003 piR-48699 SUMF1 ENSG00000286579
GH03J004491 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -26.7 -26746 5.3 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 REST RFX1 SIX5 LEF1 ITPR1 ITPR1-DT SUMF1 SETMAR RF00066-125 BHLHE40
GH03J004387 Enhancer 0.6 Ensembl 33.1 +78.2 78181 3.8 IKZF2 RUNX3 JUNB BATF ATF2 ATF7 MTA2 TCF7 SPI1 IKZF1 SUMF1 piR-41525-474 lnc-CRBN-16 SETMAR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUMF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUMF1

Top Transcription factor binding sites by QIAGEN in the SUMF1 gene promoter:
  • aMEF-2
  • ATF-2
  • C/EBPalpha
  • CRE-BP1
  • IRF-7A
  • NF-kappaB1
  • Pax-5
  • Sox9
  • USF-1
  • USF1

Genomic Locations for SUMF1 Gene

Genomic Locations for SUMF1 Gene
chr3:3,700,814-4,467,282
(GRCh38/hg38)
Size:
766,469 bases
Orientation:
Minus strand
chr3:3,742,498-4,508,966
(GRCh37/hg19)
Size:
766,469 bases
Orientation:
Minus strand

Genomic View for SUMF1 Gene

Genes around SUMF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUMF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUMF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUMF1 Gene

Proteins for SUMF1 Gene

  • Protein details for SUMF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBK3-SUMF1_HUMAN
    Recommended name:
    Formylglycine-generating enzyme
    Protein Accession:
    Q8NBK3
    Secondary Accessions:
    • B4DXK5
    • B7XD05
    • E9PGL0
    • G5E9B0
    • Q0VAC6
    • Q0VAC7
    • Q2NL78
    • Q53ZE4
    • Q6UY39
    • Q96AK5
    • Q96DK8

    Protein attributes for SUMF1 Gene

    Size:
    374 amino acids
    Molecular mass:
    40556 Da
    Cofactor:
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036;
    Quaternary structure:
    • Monomer, homodimer and heterodimer with SUMF2.
    Miscellaneous:
    • The resulting 3-oxoalanine in the substrate protein is called C(alpha)-formylglycine by many authors. It should not be confused with N-formylglycine.

    Three dimensional structures from OCA and Proteopedia for SUMF1 Gene

    Alternative splice isoforms for SUMF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUMF1 Gene

Post-translational modifications for SUMF1 Gene

  • N-glycosylated. Contains high-mannose-type oligosaccharides.
  • Glycosylation at Asn141
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SUMF1_HUMAN (1772)

No data available for DME Specific Peptides for SUMF1 Gene

Domains & Families for SUMF1 Gene

Gene Families for SUMF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SUMF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SUMF1 Gene

GenScript: Design optimal peptide antigens:
  • Sulfatase modifying factor 1 (B7XD05_HUMAN)
  • SUMF1 protein (Q0VAC6_HUMAN)
  • C-alpha-formylglycine-generating enzyme 1 (SUMF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBK3

UniProtKB/Swiss-Prot:

SUMF1_HUMAN :
  • Belongs to the sulfatase-modifying factor family.
Family:
  • Belongs to the sulfatase-modifying factor family.
genes like me logo Genes that share domains with SUMF1: view

Function for SUMF1 Gene

Molecular function for SUMF1 Gene

UniProtKB/Swiss-Prot 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:25931126, PubMed:16368756, PubMed:21224894). 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:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15907468, PubMed:15657036).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 a thiol + L-cysteinyl-[sulfatase] + O2 = 3-oxo-L-alanyl-[sulfatase] + an organic disulfide + H(+) + H2O + hydrogen sulfide; Xref=Rhea:RHEA:51152, Rhea:RHEA-COMP:12900, Rhea:RHEA-COMP:12901, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29256, ChEBI:CHEBI:29919, ChEBI:CHEBI:29950, ChEBI:CHEBI:35489, ChEBI:CHEBI:85621; EC=1.8.3.7; Evidence={ECO:0000269|PubMed:15657036, ECO:0000269|PubMed:25931126};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.34 uM for [sulfatase]-L-cysteine {ECO:0000269|PubMed:25931126}; Note=Kcat is 6.06 min(-1) with [sulfatase]-L-cysteine as substrate. {ECO:0000269|PubMed:25931126};

Enzyme Numbers (IUBMB) for SUMF1 Gene

Phenotypes From GWAS Catalog for SUMF1 Gene

Gene Ontology (GO) - Molecular Function for SUMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity TAS --
GO:0042802 identical protein binding IEA --
GO:0046872 metal ion binding IEA --
GO:0120147 Formylglycine-generating oxidase activity IEA,IDA 21224894
GO:1903135 cupric ion binding IDA 25931126
genes like me logo Genes that share ontologies with SUMF1: view
genes like me logo Genes that share phenotypes with SUMF1: view

Human Phenotype Ontology for SUMF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SUMF1 Gene

MGI Knock Outs for SUMF1:
  • Sumf1 Sumf1<tm1b(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for SUMF1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUMF1

No data available for Transcription Factor Targets and HOMER Transcription for SUMF1 Gene

Localization for SUMF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUMF1 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUMF1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SUMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IDA 18266766
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with SUMF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SUMF1 Gene

Pathways & Interactions for SUMF1 Gene

genes like me logo Genes that share pathways with SUMF1: view

UniProtKB/Swiss-Prot Q8NBK3-SUMF1_HUMAN

  • Pathway: Protein modification; sulfatase oxidation.

Gene Ontology (GO) - Biological Process for SUMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0018158 protein oxidation IDA 21224894
GO:0043687 post-translational protein modification IDA,TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with SUMF1: view

No data available for SIGNOR curated interactions for SUMF1 Gene

Drugs & Compounds for SUMF1 Gene

(3) Drugs for SUMF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SUMF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SUMF1: view

Transcripts for SUMF1 Gene

mRNA/cDNA for SUMF1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUMF1

Alternative Splicing Database (ASD) splice patterns (SP) for SUMF1 Gene

No ASD Table

Relevant External Links for SUMF1 Gene

GeneLoc Exon Structure for
SUMF1

Expression for SUMF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUMF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SUMF1 Gene

This gene is overexpressed in Stomach (29.7), Breast (10.3), and Esophagus (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUMF1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUMF1

SOURCE GeneReport for Unigene cluster for SUMF1 Gene:

Hs.350475

mRNA Expression by UniProt/SwissProt for SUMF1 Gene:

Q8NBK3-SUMF1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart.

Evidence on tissue expression from TISSUES for SUMF1 Gene

  • Liver(4.5)
  • Intestine(4.4)
  • Stomach(4.4)
  • Nervous system(3.7)
  • Skin(2.6)
  • Kidney(2.6)
  • Blood(2.3)
  • Heart(2.2)
  • Muscle(2.2)
  • Lung(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SUMF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SUMF1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for SUMF1 Gene

Orthologs for SUMF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SUMF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUMF1 30 31
  • 98.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SUMF1 30 31
  • 88.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUMF1 30 31
  • 87.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sumf1 30
  • 86.99 (n)
Mouse
(Mus musculus)
Mammalia Sumf1 30 17 31
  • 86.13 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SUMF1 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SUMF1 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SUMF1 30 31
  • 74.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SUMF1 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sumf1 30
  • 70.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15528 30
Zebrafish
(Danio rerio)
Actinopterygii sumf1 30 31
  • 65.37 (n)
OneToOne
wufd20g04 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013122 30
  • 58.78 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7049 30 31
  • 56.31 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.900 30
Species where no ortholog for SUMF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SUMF1 Gene

ENSEMBL:
Gene Tree for SUMF1 (if available)
TreeFam:
Gene Tree for SUMF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUMF1: view image

Paralogs for SUMF1 Gene

Paralogs for SUMF1 Gene

(2) SIMAP similar genes for SUMF1 Gene using alignment to 3 proteins:

  • SUMF1_HUMAN
  • E9PF05_HUMAN
  • F5GXA0_HUMAN
genes like me logo Genes that share paralogs with SUMF1: view

Variants for SUMF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUMF1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
638975 Pathogenic: Multiple sulfatase deficiency 4,418,076(-) C/T NONSENSE
642142 Likely Pathogenic: Multiple sulfatase deficiency 4,466,972(-) GCACCTTTGAGTGCGC SPLICE_DONOR_VARIANT
646769 Pathogenic: Multiple sulfatase deficiency 4,466,980(-) G/C NONSENSE
649907 Uncertain Significance: Multiple sulfatase deficiency 4,467,106(-) G/C MISSENSE_VARIANT
653955 Uncertain Significance: Multiple sulfatase deficiency 4,410,929(-) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SUMF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SUMF1 Gene

Variant ID Type Subtype PubMed ID
esv1508587 CNV insertion 17803354
esv2422450 CNV deletion 17116639
esv2759126 CNV loss 17122850
esv3568591 CNV loss 25503493
esv3575535 CNV gain 25503493
esv3595104 CNV loss 21293372
esv3595105 CNV loss 21293372
esv3893632 CNV loss 25118596
esv3893640 CNV loss 25118596
nsv1010928 CNV gain 25217958
nsv1072232 CNV deletion 25765185
nsv1114342 CNV deletion 24896259
nsv1116966 CNV deletion 24896259
nsv1123618 CNV deletion 24896259
nsv1133318 CNV tandem duplication 24896259
nsv1160919 CNV deletion 26073780
nsv474576 CNV novel sequence insertion 20440878
nsv589451 CNV loss 21841781
nsv956841 CNV insertion 24416366
nsv997886 CNV gain 25217958

Variation tolerance for SUMF1 Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.22; 76.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUMF1 Gene

Human Gene Mutation Database (HGMD)
SUMF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUMF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUMF1 Gene

Disorders for SUMF1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for SUMF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SUMF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SUMF1_HUMAN
  • 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 mutations affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases. {ECO:0000269 PubMed:12757706}.

Additional Disease Information for SUMF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SUMF1: view

No data available for Genatlas for SUMF1 Gene

Publications for SUMF1 Gene

  1. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. (PMID: 12757705) Dierks T … von Figura K (Cell 2003) 2 3 4 23
  2. Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19. (PMID: 19262745) Oshikawa M … Kato S (Molecular vision 2009) 3 4 23
  3. Paralog of the formylglycine-generating enzyme--retention in the endoplasmic reticulum by canonical and noncanonical signals. (PMID: 18266766) Gande SL … Dierks T (The FEBS journal 2008) 3 4 23
  4. Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. (PMID: 18157819) Schlotawa L … Gärtner J (Human mutation 2008) 3 4 23
  5. A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme. (PMID: 16368756) Roeser D … Rudolph MG (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 23

Products for SUMF1 Gene

Sources for SUMF1 Gene