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    SULF1 sulfatase 1 [ Homo sapiens (human) ]

    Gene ID: 23213, updated on 3-Dec-2024

    Summary

    Official Symbol
    SULF1provided by HGNC
    Official Full Name
    sulfatase 1provided by HGNC
    Primary source
    HGNC:HGNC:20391
    See related
    Ensembl:ENSG00000137573 MIM:610012; AllianceGenome:HGNC:20391
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SULF-1
    Summary
    This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Broad expression in urinary bladder (RPKM 23.6), prostate (RPKM 21.2) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SULF1 in Genome Data Viewer
    Location:
    8q13.2-q13.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (69466781..69660912)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (69896604..70090566)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (70379016..70573147)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901958 Neighboring gene Sharpr-MPRA regulatory region 8363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:70281454-70281960 Neighboring gene long intergenic non-protein coding RNA 1603 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:70378771-70379311 Neighboring gene NANOG hESC enhancer GRCh37_chr8:70451186-70451687 Neighboring gene MPRA-validated peak7064 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:70556317-70556868 Neighboring gene Sharpr-MPRA regulatory region 11728/13723 Neighboring gene solute carrier organic anion transporter family member 5A1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:70623385-70623885 Neighboring gene uncharacterized LOC105375889 Neighboring gene RN7SK pseudogene 29

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30905, FLJ38022, FLJ41750, KIAA1077

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylglucosamine-6-sulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables N-acetylglucosamine-6-sulfatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables N-acetylglucosamine-6-sulfatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables arylsulfatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables arylsulfatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glycosaminoglycan binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chondrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in esophagus smooth muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerular basement membrane development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glomerular basement membrane development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerular filtration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heparan sulfate proteoglycan metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heparan sulfate proteoglycan metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heparan sulfate proteoglycan metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in innervation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of fibroblast growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of fibroblast growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of fibroblast growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of prostatic bud formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of vascular endothelial growth factor production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of vascular endothelial growth factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of fibroblast growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vascular endothelial growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Golgi stack IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    extracellular sulfatase Sulf-1
    Names
    N-acetylglucosamine-6-sulfatase
    arylsulfatase
    sulfatase FP
    NP_001121676.1
    NP_001121677.1
    NP_001121678.1
    NP_001399757.1
    NP_001399758.1
    NP_001399759.1
    NP_001399760.1
    NP_001399761.1
    NP_001399762.1
    NP_001399763.1
    NP_001399764.1
    NP_001399765.1
    NP_001399766.1
    NP_001399767.1
    NP_001399768.1
    NP_001399769.1
    NP_001399770.1
    NP_001399771.1
    NP_001399773.1
    NP_001399774.1
    NP_001399775.1
    NP_001399776.1
    NP_001399777.1
    NP_001399778.1
    NP_001399779.1
    NP_001399780.1
    NP_055985.2
    XP_006716504.1
    XP_006716505.1
    XP_054216147.1
    XP_054216148.1
    XP_054216149.1
    XP_054216150.1
    XP_054216151.1
    XP_054216152.1
    XP_054216153.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042849.1 RefSeqGene

      Range
      31224..199289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128204.2NP_001121676.1  extracellular sulfatase Sulf-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001121676.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AF545571, AK095341, AY101175
      Consensus CDS
      CCDS6204.1
      UniProtKB/Swiss-Prot
      Q86YV8, Q8IWU6, Q8NCA2, Q9UPS5
      UniProtKB/TrEMBL
      Q7Z2W2
      Related
      ENSP00000403040.2, ENST00000458141.6
      Conserved Domains (3) summary
      cd16147
      Location:42384
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:534677
      DUF3740; Sulfatase protein
      cl23718
      Location:768817
      ALP_like; alkaline phosphatases and sulfatases
    2. NM_001128205.2NP_001121677.1  extracellular sulfatase Sulf-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001121677.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AF545571, AY101175, DA234578
      Consensus CDS
      CCDS6204.1
      UniProtKB/Swiss-Prot
      Q86YV8, Q8IWU6, Q8NCA2, Q9UPS5
      UniProtKB/TrEMBL
      Q7Z2W2
      Related
      ENSP00000385704.4, ENST00000402687.9
      Conserved Domains (3) summary
      cd16147
      Location:42384
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:534677
      DUF3740; Sulfatase protein
      cl23718
      Location:768817
      ALP_like; alkaline phosphatases and sulfatases
    3. NM_001128206.2NP_001121678.1  extracellular sulfatase Sulf-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001121678.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AF545571, AY101175
      Consensus CDS
      CCDS6204.1
      UniProtKB/Swiss-Prot
      Q86YV8, Q8IWU6, Q8NCA2, Q9UPS5
      UniProtKB/TrEMBL
      Q7Z2W2
      Related
      ENSP00000390315.3, ENST00000419716.7
      Conserved Domains (3) summary
      cd16147
      Location:42384
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:534677
      DUF3740; Sulfatase protein
      cl23718
      Location:768817
      ALP_like; alkaline phosphatases and sulfatases
    4. NM_001412828.1NP_001399757.1  extracellular sulfatase Sulf-1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
    5. NM_001412829.1NP_001399758.1  extracellular sulfatase Sulf-1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
    6. NM_001412830.1NP_001399759.1  extracellular sulfatase Sulf-1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC091047
    7. NM_001412831.1NP_001399760.1  extracellular sulfatase Sulf-1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC091047
    8. NM_001412832.1NP_001399761.1  extracellular sulfatase Sulf-1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
    9. NM_001412833.1NP_001399762.1  extracellular sulfatase Sulf-1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    10. NM_001412834.1NP_001399763.1  extracellular sulfatase Sulf-1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    11. NM_001412835.1NP_001399764.1  extracellular sulfatase Sulf-1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/Swiss-Prot
      Q86YV8, Q8IWU6, Q8NCA2, Q9UPS5
      UniProtKB/TrEMBL
      Q7Z2W2
    12. NM_001412836.1NP_001399765.1  extracellular sulfatase Sulf-1 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    13. NM_001412837.1NP_001399766.1  extracellular sulfatase Sulf-1 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    14. NM_001412838.1NP_001399767.1  extracellular sulfatase Sulf-1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    15. NM_001412839.1NP_001399768.1  extracellular sulfatase Sulf-1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    16. NM_001412840.1NP_001399769.1  extracellular sulfatase Sulf-1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    17. NM_001412841.1NP_001399770.1  extracellular sulfatase Sulf-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    18. NM_001412842.1NP_001399771.1  extracellular sulfatase Sulf-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    19. NM_001412844.1NP_001399773.1  extracellular sulfatase Sulf-1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      A0A087WWR8
    20. NM_001412845.1NP_001399774.1  extracellular sulfatase Sulf-1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      A0A087WWR8
      Related
      ENSP00000480454.1, ENST00000616868.1
    21. NM_001412846.1NP_001399775.1  extracellular sulfatase Sulf-1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
    22. NM_001412847.1NP_001399776.1  extracellular sulfatase Sulf-1 isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746
    23. NM_001412848.1NP_001399777.1  extracellular sulfatase Sulf-1 isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746
    24. NM_001412849.1NP_001399778.1  extracellular sulfatase Sulf-1 isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790
    25. NM_001412850.1NP_001399779.1  extracellular sulfatase Sulf-1 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    26. NM_001412851.1NP_001399780.1  extracellular sulfatase Sulf-1 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
      UniProtKB/TrEMBL
      Q7Z2W2
    27. NM_015170.3NP_055985.2  extracellular sulfatase Sulf-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_055985.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
      Source sequence(s)
      AF545571, AY101175, DA745191
      Consensus CDS
      CCDS6204.1
      UniProtKB/Swiss-Prot
      Q86YV8, Q8IWU6, Q8NCA2, Q9UPS5
      UniProtKB/TrEMBL
      Q7Z2W2
      Related
      ENSP00000260128.4, ENST00000260128.8
      Conserved Domains (3) summary
      cd16147
      Location:42384
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:534677
      DUF3740; Sulfatase protein
      cl23718
      Location:768817
      ALP_like; alkaline phosphatases and sulfatases

    RNA

    1. NR_132437.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks multiple 5' exons and contains an alternate 5' terminal exon, and contains an alternate exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB029000, AC091047, BC068565, DB040026
    2. NR_156414.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF545571, AY101175, DA654454, DB288568
    3. NR_156415.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF545571, AY101175, CN426828, DA234578
    4. NR_182050.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
    5. NR_182051.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
    6. NR_182053.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC022790, AC091047
    7. NR_182055.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC013746, AC091047

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      69466781..69660912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716442.1XP_006716505.1  extracellular sulfatase Sulf-1 isoform X2

      See identical proteins and their annotated locations for XP_006716505.1

      UniProtKB/TrEMBL
      Q6NUJ9
      Conserved Domains (2) summary
      pfam12548
      Location:300435
      DUF3740; Sulfatase protein
      cl23718
      Location:5143
      ALP_like; alkaline phosphatases and sulfatases
    2. XM_006716441.1XP_006716504.1  extracellular sulfatase Sulf-1 isoform X1

      Conserved Domains (2) summary
      pfam12548
      Location:300435
      DUF3740; Sulfatase protein
      cl23718
      Location:5143
      ALP_like; alkaline phosphatases and sulfatases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      69896604..70090566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360174.1XP_054216149.1  extracellular sulfatase Sulf-1 isoform X3

      UniProtKB/TrEMBL
      Q7Z2W2
    2. XM_054360176.1XP_054216151.1  extracellular sulfatase Sulf-1 isoform X3

      UniProtKB/TrEMBL
      Q7Z2W2
    3. XM_054360173.1XP_054216148.1  extracellular sulfatase Sulf-1 isoform X3

      UniProtKB/TrEMBL
      Q7Z2W2
    4. XM_054360175.1XP_054216150.1  extracellular sulfatase Sulf-1 isoform X3

      UniProtKB/TrEMBL
      Q7Z2W2
    5. XM_054360177.1XP_054216152.1  extracellular sulfatase Sulf-1 isoform X3

      UniProtKB/TrEMBL
      Q7Z2W2
    6. XM_054360178.1XP_054216153.1  extracellular sulfatase Sulf-1 isoform X2

      UniProtKB/TrEMBL
      Q6NUJ9
    7. XM_054360172.1XP_054216147.1  extracellular sulfatase Sulf-1 isoform X1