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SULF1 sulfatase 1 [ Homo sapiens (human) ]

Gene ID: 23213, updated on 3-Apr-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
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Genomic context

See SULF1 in Genome Data Viewer
Location:
8q13.2-q13.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (69466781..69660912)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (69896604..70090566)
105.20220307 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
  10. NM_001412834.1NP_001399763.1  extracellular sulfatase Sulf-1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC013746, AC022790, AC091047
  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
  12. NM_001412836.1NP_001399765.1  extracellular sulfatase Sulf-1 isoform 5 precursor

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AC013746, AC022790, AC091047
  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_2023_10

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

  2. XM_054360176.1XP_054216151.1  extracellular sulfatase Sulf-1 isoform X3

  3. XM_054360173.1XP_054216148.1  extracellular sulfatase Sulf-1 isoform X3

  4. XM_054360175.1XP_054216150.1  extracellular sulfatase Sulf-1 isoform X3

  5. XM_054360177.1XP_054216152.1  extracellular sulfatase Sulf-1 isoform X3

  6. XM_054360178.1XP_054216153.1  extracellular sulfatase Sulf-1 isoform X2

  7. XM_054360172.1XP_054216147.1  extracellular sulfatase Sulf-1 isoform X1