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FLASH GENE
Symbol SULF1 contributors: mct/npt - updated : 31-05-2017
HGNC name sulfatase 1
HGNC id 20391
Corresponding disease
DEL8Q13 chromosome 8q13 microdeletion
Location 8q13.3      Physical location : 70.378.858 - 70.573.147
Synonym name
  • sulfatase FP
  • arylendosulfatase 1
    • Synonym symbol(s) KIAA1077, SULF-1, HSULF-1, FLJ30905, FLJ38022, FLJ41750
    EC.number 3.1.6.-
    DNA
    TYPE functioning gene
    STRUCTURE 194.29 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text all variants encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 5548 - 871 - 2008 19373441
    23 - 5716 - 871 - 2008 19373441
    22 - 5554 - 871 - 2008 19373441
    23 - 5710 - 871 - 2008 19373441
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Hearing/EquilibriumearinnercochleaCortihighly Homo sapiens
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage  highly Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte Homo sapiensFetal
    Skeletonosteoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text fetal kidney and brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • catalytic center residing in the N-terminal 75-kDa subunit
  • C-terminal 50-kDa subunit indispensable for both arylsufatase and glucosamine 6-O-sulfate-endosulfatase activity (Tang 2009)
    • isoforms Precursor synthesized as prepro-enzymes and cleaved by a furin-type proteinase to form disulfide-bond linked heterodimers of 75- and 50-kDa subunits.
    HOMOLOGY
    Homologene
    FAMILY
  • sulfatase family
    • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text secreted into conditioned medium, as well as retained on the cell membrane (Tang 2009)
    basic FUNCTION
  • facilitating apoptosis in response to exogenous stimulation
  • playing a potential role of down-regulation in mammary carcinogenesis (Narita 2007)
  • promotes drug-induced apoptosis of cancer cells and inhibits tumorigenesis and angiogenesis (Lai 2008)
  • extracellular sulfatase acting on internal glucosamine 6-O-sulfate modifications within heparan sulfate proteoglycans and regulating their interactions with various signaling molecules, including Wnt ligands (Tang 2009)
  • extracellular sulfatases SULF1 and SULF2 remove specific 6-O-sulfate groups from heparan sulfate, thereby modulating numerous signalling pathways underlying development and homeostasis
  • SULF1 and SULF2 differentially contribute to the generation of organ-specific sulfation patterns of heparan sulfate
  • is a TGFB1)-responsive gene in normal human lung fibroblasts and functions as a negative feedback regulator of TGFB1
  • plays a crucial role in modulating both BMP and FGF signaling along the developing myoseptum to coordinate the morphogenesis of trunk musculature, associated pigment cells, and lateral line neuromasts
  • key role of SULF1 in regulating SHH-dependent neural cell diversity
  • SULF1, SULF2 plays an important role in the development of the inner ear
  • SULF1, SULF2 and EGFR are likely involved in the signalling pathway from chondroitin sulphate proteoglycans (CSPGs)that leads to inhibition of neurite outgrowth and may regulate structural plasticity and regeneration in the nervous system
  • plays a key role in cell signaling involving in cell growth, differentiation, proliferation, and migration
  • acts extracellularly to modify the structure of heparan sulfate chains to affect the bio-availability of WNT ligands
  • SULF1/SULF2 enzymes regulate cell signalling that impacts the growth and differentiation of many tissues
  • SULF1 and SULF2 play indispensable roles to maintain glomerular integrity and protective roles in diabetic nephropathy, probably by growth factor modulation
  • acts as a regulator of sonic hedgehog (SHH) signaling during embryonic ventral spinal cord development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BMP4 and BMP7 limit likely FGF10 action in the developing prostate at least in part by inducing SULF1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL8Q13
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in the majority of cancer cell lines examined, and forced expression of SULF1 decreases cell proliferation, migration, and invasion (Lai 2008)
    constitutional     --over  
    in degenerative intervertebral disc cells
    Susceptibility to recurrent miscarriage
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target targeting SULF1 or the interaction between SULF1 and the related sulfatase 2 will potentially be important in developing novel cancer therapies (Lai 2008)
    ANIMAL & CELL MODELS