SULT1A3

Chr 16

sulfotransferase family 1A member 3

Also known as: HAST, HAST3, M-PST, ST1A3, ST1A3/ST1A4, ST1A4, ST1A5, STM

NCBI Gene: 6818 ENSG00000261052 UniProt: P0DMM9 OMIM: 600641

SULT1A3 encodes a sulfotransferase enzyme that catalyzes sulfate conjugation of neurotransmitters including dopamine, epinephrine, norepinephrine, and serotonin, as well as thyroid hormones. Currently, no specific disease associations have been established for pathogenic variants in this gene. The gene shows moderate tolerance to loss-of-function variants with a LOEUF score of 1.79.

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 a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Read-through transcription exists between this gene and the upstream SLX1A (SLX1 structure-specific endonuclease subunit homolog A) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]

OMIM 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

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P/LP missense

1.79

LOEUF

Multiple*

Mechanism· predicted