SULF1
Sulfatase 1: Extracellular Heparan Sulfate Modifier in Development and Cancer
Gene Information Card
| Symbol | SULF1 |
|---|---|
| Full Name | Sulfatase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q13.2-q13.3 |
| NCBI Gene ID | 23213 ncbi.nlm.nih.gov/gene/23213 |
| Ensembl ID | ENSG00000137575 |
| UniProt ID | Q8IWU5 |
| OMIM ID | 610012 |
| HGNC ID | 20391 |
| Aliases | hSulf-1, SULF-1, KIAA1077 |
Description
SULF1 encodes an extracellular sulfatase that removes 6-O-sulfate groups from heparan sulfate chains, modulating the binding and signaling of heparin-binding growth factors. It plays a critical role in embryonic development, angiogenesis, and tumor suppression. SULF1 is frequently downregulated in various cancers, and its loss correlates with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | SULF1 downregulation increases heparan sulfate sulfation, enhancing FGF2 and HGF signaling, promoting tumor growth and metastasis. | NCBI Gene, COSMIC |
| Ovarian cancer | Epigenetic silencing of SULF1 leads to increased heparan sulfate sulfation and enhanced growth factor signaling. | NCBI Gene, ClinVar |
| Breast cancer | Reduced SULF1 expression correlates with aggressive tumor phenotypes and poor survival. | NCBI Gene, COSMIC |
| Multiple myeloma | SULF1 loss promotes myeloma cell proliferation and adhesion via altered heparan sulfate. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Ovary | 3.8 | Low |
| Breast | 4.1 | Low |
| Lung | 6.7 | Medium |
| Kidney | 8.3 | Medium |
| Placenta | 12.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
| MCF7 | 3.2 | Breast cancer cell line |
| A549 | 6.1 | Lung cancer cell line |
| SK-OV-3 | 2.9 | Ovarian cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Potential start codon loss; functional impact unknown |
| c.1045C>T | nonsense | <0.1% | Premature stop; likely loss of function |
| c.1567G>A | missense | <0.1% | Substitution in catalytic domain; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the active site lead to loss of sulfatase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in SULF1.
Dominant Negative (DN)
No dominant-negative mutations have been described for SULF1.
View complete mutation data：
Gene Ontology (GO)
| • heparan sulfate sulfatase activity | • extracellular region |
| • heparan sulfate proteoglycan catabolic process | • regulation of cell growth |
| • angiogenesis |
Pathways
• Heparan sulfate/heparin metabolism
• FGF signaling pathway
• HGF signaling pathway
• Wnt signaling pathway
Protein Summary
SULF1 is a 871-amino acid extracellular sulfatase that specifically removes 6-O-sulfate groups from heparan sulfate chains. It is synthesized as a preproprotein and cleaved to yield the active enzyme. The protein contains a signal peptide, a sulfatase domain, and a C-terminal domain. SULF1 modulates the interaction of heparan sulfate with growth factors such as FGF2, HGF, and VEGF, thereby regulating cell proliferation, migration, and angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SULF1 Knockout HEK293 Cell Line | EDJ-KQ7896 | Human | 23213 | Details Get a Quote |
| SULF1 Knockout HeLa Cell Line | EDJ-KQ33496 | Human | 23213 | Details Get a Quote |
| SULF1 Knockout A-549 Cell Line | EDJ-KQ64203 | Human | 23213 | Details Get a Quote |
| SULF1 Knockout HCT 116 Cell Line | EDJ-KQ72648 | Human | 23213 | Details Get a Quote |
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