SULT1A3

sulfotransferase family 1A member 3, the group of Sulfotransferases, cytosolic

Basic information

Region (hg38): 16:30199227-30204310

Previous symbols: [ "STM" ]

Links

ENSG00000261052 ∙ NCBI:6818 ∙ OMIM:600641 ∙ HGNC:11455 ∙ Uniprot:P0DMM9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SULT1A3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SULT1A3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SULT1A3	protein_coding	protein_coding	ENST00000395137	7	9878

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.363	0.492	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.701	5	11.8	0.425	6.47e-7	1885
Missense in Polyphen		0	2.6314	0		727
Synonymous	1.36	1	4.79	0.209	2.09e-7	524
Loss of Function	0.794	0	0.734	0.00	3.12e-8	164

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs.
• Pathway: Chemical carcinogenesis - Homo sapiens (human);Pathway_PA165986194 -need delete;Acetaminophen Pathway, Pharmacokinetics;Acetaminophen Metabolism Pathway;XBP1(S) activates chaperone genes;Phase II - Conjugation of compounds;dopamine degradation;Biological oxidations;Metabolism;Cytosolic sulfonation of small molecules;serotonin degradation;superpathway of tryptophan utilization (Consensus)

Recessive Scores

• pRec: 0.157

Haploinsufficiency Scores

• pHI: 0.816
• hipred: N
• hipred_score: 0.139
• ghis: 0.394

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.207

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Gene ontology

• Biological process: ethanol catabolic process;xenobiotic metabolic process;dopamine receptor signaling pathway;steroid metabolic process;flavonoid metabolic process;IRE1-mediated unfolded protein response;dopamine catabolic process;3'-phosphoadenosine 5'-phosphosulfate metabolic process;sulfation;ERK1 and ERK2 cascade;calcineurin-mediated signaling;NMDA selective glutamate receptor signaling pathway;negative regulation of neuron death;cellular response to dopamine
• Cellular component: cytosol
• Molecular function: aryl sulfotransferase activity;protein binding;sulfotransferase activity;sulfate binding;amine sulfotransferase activity