SULT1A3: Sulfotransferase Family 1A Member 3

Cytosolic sulfotransferase involved in dopamine and catecholamine metabolism

Gene Information Card

Symbol SULT1A3
Full Name Sulfotransferase Family 1A Member 3
Gene Type Protein coding
Chromosomal Location 16p11.2
NCBI Gene ID 6818 ncbi.nlm.nih.gov/gene/6818
Ensembl ID ENSG00000161921
UniProt ID P50224
OMIM ID 600642
HGNC ID 11454
Aliases ST1A3, ST1A5, HAST3, M-PST, TL-PST

Description

SULT1A3 encodes a cytosolic sulfotransferase that catalyzes the sulfate conjugation of catecholamines, including dopamine, norepinephrine, and epinephrine, as well as phenolic monoamines. This enzyme plays a key role in the inactivation and metabolism of neurotransmitters and drugs. The gene is located on chromosome 16p11.2 and is highly expressed in the brain, liver, and gastrointestinal tract.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Parkinson disease Altered dopamine sulfation may affect neurotransmitter homeostasis PMID: 12815056
Neuroblastoma SULT1A3 expression correlates with catecholamine metabolism in tumors PMID: 10441467
Sulfotransferase deficiency Loss-of-function variants impair catecholamine sulfation ClinVar: RCV000015777

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 25.6 Medium
Liver 18.3 Medium
Small intestine 12.1 Low
Kidney 8.4 Low
Adrenal gland 6.2 Low
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y 32.5 Neuroblastoma cell line
HepG2 15.8 Hepatocellular carcinoma
Caco-2 10.2 Colorectal adenocarcinoma
HEK293 5.1 Embryonic kidney
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.638G>A (p.Arg213His) Missense 0.001 Reduced enzyme activity
c.1A>G (p.Met1Val) Start loss <0.001 Loss of function
c.107C>T (p.Pro36Leu) Missense 0.002 Decreased sulfation capacity
Mutation functional classification

Loss of Function (LOF)

c.1A>G (p.Met1Val) leads to complete loss of protein expression.

Gain of Function (GOF)

No gain-of-function variants reported.

Dominant Negative (DN)

No dominant-negative variants reported.

Pathways

Sulfation of catecholamines (Reactome: R-HSA-174362)
Phase II conjugation (Reactome: R-HSA-156580)

Protein Summary

SULT1A3 is a 295-amino acid cytosolic sulfotransferase that transfers a sulfo group from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the hydroxyl group of catecholamines and phenolic monoamines. It is a homodimer with a molecular weight of approximately 34 kDa. The enzyme is critical for the inactivation of dopamine and other neurotransmitters, and its activity is regulated by substrate availability and post-translational modifications.

Related Products

Product name Cat.No. Species Gene ID
SULT1A3 Knockout HEK293 Cell Line EDJ-KQ50667 Human 6818 Details Get a Quote
SULT1A3 Knockout HeLa Cell Line EDJ-KQ54587 Human 6818 Details Get a Quote
SULT1A3 Knockout A-549 Cell Line EDJ-KQ63071 Human 6818 Details Get a Quote
SULT1A3 Knockout HCT 116 Cell Line EDJ-KQ71547 Human 6818 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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