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SULF1 sulfatase 1 [ Homo sapiens (human) ]

Gene ID: 23213, updated on 9-May-2020

Summary

Official Symbol
SULF1provided by HGNC
Official Full Name
sulfatase 1provided by HGNC
Primary source
HGNC:HGNC:20391
See related
Ensembl:ENSG00000137573 MIM:610012
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

Genomic context

See SULF1 in Genome Data Viewer
Location:
8q13.2-q13.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (69466624..69660912)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (70378859..70573147)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene tRNA-Glu (CTC) 14-1 Neighboring gene long intergenic non-protein coding RNA 1603 Neighboring gene uncharacterized LOC105375889 Neighboring gene solute carrier organic anion transporter family member 5A1 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30905, FLJ38022, FLJ41750, KIAA1077

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
extracellular sulfatase Sulf-1
Names
sulfatase FP
NP_001121676.1
NP_001121677.1
NP_001121678.1
NP_055985.2
XP_006716501.1
XP_006716502.1
XP_006716503.1
XP_006716504.1
XP_006716505.1
XP_011515796.1
XP_011515797.1
XP_016868739.1
XP_024302880.1

NCBI Reference Sequences (RefSeq)

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
    5001..199289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128204.2NP_001121676.1  extracellular sulfatase Sulf-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
    Q8IWU6
    UniProtKB/TrEMBL
    A0A024R809
    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 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
    Q8IWU6
    UniProtKB/TrEMBL
    A0A024R809
    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 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
    Q8IWU6
    UniProtKB/TrEMBL
    A0A024R809
    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_015170.2NP_055985.2  extracellular sulfatase Sulf-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
    Q8IWU6
    UniProtKB/TrEMBL
    A0A024R809
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    69466624..69660912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716440.3XP_006716503.1  extracellular sulfatase Sulf-1 isoform X1

    See identical proteins and their annotated locations for XP_006716503.1

    Conserved Domains (4) summary
    COG3119
    Location:42386
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam12548
    Location:541676
    DUF3740; Sulfatase protein
    cd16147
    Location:42384
    G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
    cl23718
    Location:768817
    ALP_like; alkaline phosphatases and sulfatases
  2. XM_011517494.2XP_011515796.1  extracellular sulfatase Sulf-1 isoform X1

    See identical proteins and their annotated locations for XP_011515796.1

    Conserved Domains (4) summary
    COG3119
    Location:42386
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam12548
    Location:541676
    DUF3740; Sulfatase protein
    cd16147
    Location:42384
    G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
    cl23718
    Location:768817
    ALP_like; alkaline phosphatases and sulfatases
  3. XM_006716438.3XP_006716501.1  extracellular sulfatase Sulf-1 isoform X1

    See identical proteins and their annotated locations for XP_006716501.1

    Conserved Domains (4) summary
    COG3119
    Location:42386
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam12548
    Location:541676
    DUF3740; Sulfatase protein
    cd16147
    Location:42384
    G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
    cl23718
    Location:768817
    ALP_like; alkaline phosphatases and sulfatases
  4. XM_024447112.1XP_024302880.1  extracellular sulfatase Sulf-1 isoform X3

    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
  5. XM_011517495.2XP_011515797.1  extracellular sulfatase Sulf-1 isoform X4

    See identical proteins and their annotated locations for XP_011515797.1

    Conserved Domains (3) summary
    COG3119
    Location:42386
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam12548
    Location:541676
    DUF3740; Sulfatase protein
    cd16147
    Location:42384
    G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
  6. XM_017013250.2XP_016868739.1  extracellular sulfatase Sulf-1 isoform X4

    Conserved Domains (3) summary
    COG3119
    Location:42386
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam12548
    Location:541676
    DUF3740; Sulfatase protein
    cd16147
    Location:42384
    G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
  7. XM_006716439.3XP_006716502.1  extracellular sulfatase Sulf-1 isoform X1

    See identical proteins and their annotated locations for XP_006716502.1

    Conserved Domains (4) summary
    COG3119
    Location:42386
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam12548
    Location:541676
    DUF3740; Sulfatase protein
    cd16147
    Location:42384
    G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
    cl23718
    Location:768817
    ALP_like; alkaline phosphatases and sulfatases
  8. XM_006716442.1XP_006716505.1  extracellular sulfatase Sulf-1 isoform X5

    See identical proteins and their annotated locations for XP_006716505.1

    Related
    ENSP00000480454.1, ENST00000616868.1
    Conserved Domains (2) summary
    pfam12548
    Location:300435
    DUF3740; Sulfatase protein
    cl23718
    Location:5143
    ALP_like; alkaline phosphatases and sulfatases
  9. XM_006716441.1XP_006716504.1  extracellular sulfatase Sulf-1 isoform X2

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