PAPSS1

Chr 4

3'-phosphoadenosine 5'-phosphosulfate synthase 1

Also known as: ATPSK1, PAPSS, SK1

NCBI Gene: 9061ENSG00000138801UniProt: O43252OMIM: 603262

Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.79LOEUF
pLI 0.000
Z-score 2.48
OE 0.53 (0.36–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.74Z-score
OE missense 0.74 (0.67–0.82)
263 obs / 355.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.36–0.79)
0≤0.351.4
Missense OE?0.74 (0.67–0.82)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 17 / 32.2Missense obs/exp: 263 / 355.2Syn Z: -0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAPSS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients