PAPSS1 Gene - Bifunctional 3'-Phosphoadenosine 5'-Phosphosulfate Synthase 1
Key enzyme in sulfate activation and sulfation pathways
Gene Information Card
| Symbol | PAPSS1 |
|---|---|
| Full Name | 3'-phosphoadenosine 5'-phosphosulfate synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 9061 ncbi.nlm.nih.gov/gene/9061 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | O43252 |
| OMIM ID | 603262 |
| HGNC ID | 8603 |
| Aliases | ATPSK1, PAPS synthase 1, SK1 |
Description
The PAPSS1 gene encodes the bifunctional enzyme 3'-phosphoadenosine 5'-phosphosulfate synthase 1, which catalyzes the synthesis of 3'-phosphoadenosine 5'-phosphosulfate (PAPS), the universal sulfate donor for sulfation reactions. This enzyme possesses both ATP sulfurylase and APS kinase activities. PAPSS1 is widely expressed and plays a critical role in sulfation of proteoglycans, hormones, and xenobiotics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloepimetaphyseal dysplasia, PAPSS1-related | Loss-of-function mutations impair PAPS synthesis, disrupting proteoglycan sulfation in cartilage | OMIM #603262; PMID: 29410577 |
| Hereditary multiple exostoses (suggested) | Altered heparan sulfate sulfation may contribute to exostosis formation | PMID: 21840995 |
| Cancer (various types) | Dysregulated PAPSS1 expression affects sulfation of signaling molecules and extracellular matrix | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Heart | 4.7 | Low |
| Lung | 5.9 | Medium |
| Skeletal muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Liver cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 7.4 | Lung carcinoma |
| MCF7 | 5.1 | Breast cancer |
| K562 | 4.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Trp) | Missense | Rare | Reduced enzyme activity; associated with skeletal dysplasia |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired ATP sulfurylase domain; loss of function |
| c.1456_1457del (p.Leu486fs) | Frameshift | Very rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish PAPS synthase activity, leading to impaired sulfation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sulfur metabolism (KEGG: hsa00920)
• Sulfation of proteoglycans (Reactome: R-HSA-1638091)
• Metabolism of xenobiotics by cytochrome P450 (indirect)
Protein Summary
The PAPSS1 protein is a bifunctional enzyme of 624 amino acids that catalyzes two sequential reactions: first, ATP sulfurylase converts ATP and sulfate to adenosine 5'-phosphosulfate (APS); second, APS kinase phosphorylates APS to form PAPS. PAPS is the universal sulfate donor for all sulfotransferase reactions. The enzyme is localized in the cytoplasm and is essential for normal development and metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAPSS1 Knockout HEK293 Cell Line | EDJ-KQ6448 | Human | 9061 | Details Get a Quote |
| PAPSS1 Knockout A-549 Cell Line | EDJ-KQ30513 | Human | 9061 | Details Get a Quote |
| PAPSS1 Knockout HCT 116 Cell Line | EDJ-KQ30514 | Human | 9061 | Details Get a Quote |
| PAPSS1 Knockout HeLa Cell Line | EDJ-KQ30515 | Human | 9061 | Details Get a Quote |
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