SULT1A1

Chr 16

sulfotransferase family 1A member 1

Also known as: HAST1/HAST2, P-PST, P-PST 1, PST, ST1A1, ST1A3, STP, STP1

NCBI Gene: 6817 ENSG00000196502 UniProt: P50225 OMIM: 171150

The sulfotransferase SULT1A1 catalyzes sulfate conjugation of hormones, neurotransmitters, and xenobiotics to increase their water solubility and renal excretion, and also metabolizes thyroid hormones and dopamine. This gene shows very low constraint against loss-of-function variants, and no definitive human genetic disease has been established from SULT1A1 mutations. The enzyme plays a role in drug metabolism including acetaminophen and may influence gut-brain metabolic interactions.

OMIM ResearchSummary from RefSeq, UniProt

Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.54

Clinical Summary— SULT1A1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

60 VUS of 82 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.54LOEUF

pLI 0.000

Z-score -0.07

OE 1.02 (0.69–1.54)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.19Z-score

OE missense 1.25 (1.12–1.40)

219 obs / 174.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.02 (0.69–1.54)

0≤0.351.4

Missense OE?1.25 (1.12–1.40)

0≤0.61.4

Synonymous OE?1.52

0≤1.21.6

LoF obs/exp: 16 / 15.7Missense obs/exp: 219 / 174.7Syn Z: -3.39

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

VUS60

Likely Benign3

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	1	58	1	0	60
Likely Benign	0	1	0	2	3
Benign	0	0	1	0	1
Total	1	59	2	2	64

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

71 pathogenic / likely-pathogenic (of 96) ClinVar copy-number / structural variants overlap SULT1A1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →