SULT1A4

Chr 16

sulfotransferase family 1A member 4

Also known as: HAST3, M-PST, ST1A3, ST1A3/ST1A4, ST1A4, STM, TL-PST

NCBI Gene: 445329 ENSG00000213648 UniProt: P0DMN0

The protein is a phenol sulfotransferase that catalyzes sulfate conjugation of neurotransmitters (dopamine, epinephrine, norepinephrine, serotonin) and thyroid hormones using PAPS as a sulfate donor. SULT1A4 mutations have not been definitively associated with human disease to date. The gene shows low constraint to loss-of-function variation (pLI 0.38, LOEUF 1.74), suggesting haploinsufficiency is likely tolerated.

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 a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Read-through transcription exists between this gene and the upstream SLX1B (SLX1 structure-specific endonuclease subunit homolog B) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.74

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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