SULT1A1

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

Basic information

Region (hg38): 16:28605195-28614279

Previous symbols: [ "STP", "STP1" ]

Links

ENSG00000196502 ∙ NCBI:6817 ∙ OMIM:171150 ∙ HGNC:11453 ∙ Uniprot:P50225 ∙ 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 SULT1A1 gene.

• Inborn genetic diseases (12 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SULT1A1 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				2		2
missense			12			12
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	13	2	1

Variants in SULT1A1

This is a list of pathogenic ClinVar variants found in the SULT1A1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-28605835-G-A		not specified	Uncertain significance (Dec 14, 2023)
16-28605855-G-A		not specified	Uncertain significance (Jul 12, 2022)
16-28605867-G-A		not specified	Uncertain significance (Dec 18, 2023)
16-28605868-C-T		not specified	Uncertain significance (Dec 20, 2023)
16-28605894-T-C		not specified	Uncertain significance (May 17, 2023)
16-28605909-G-A		not specified	Uncertain significance (Oct 14, 2023)
16-28606116-T-G		not specified	Uncertain significance (Jan 09, 2024)
16-28606137-T-A		not specified	Uncertain significance (Jun 23, 2023)
16-28606173-C-T		not specified	Uncertain significance (May 18, 2022)
16-28606194-G-A		not specified	Uncertain significance (Dec 19, 2022)
16-28606226-C-A		not specified	Uncertain significance (Dec 02, 2022)
16-28606814-C-G		not specified	Uncertain significance (Oct 03, 2022)
16-28606829-C-T		not specified	Uncertain significance (Oct 12, 2022)
16-28606849-T-A		not specified	Uncertain significance (Sep 27, 2022)
16-28606849-T-C		not specified	Uncertain significance (May 26, 2023)
16-28607061-C-T		not specified	Uncertain significance (Dec 19, 2023)
16-28607070-T-C		not specified	Uncertain significance (May 08, 2023)
16-28608331-A-C		not specified	Uncertain significance (Nov 01, 2022)
16-28608363-C-T			Likely benign (Apr 01, 2023)
16-28608538-G-A			Uncertain significance (Jan 01, 2019)
16-28608732-G-C		not specified	Uncertain significance (Feb 23, 2023)
16-28608800-G-T		not specified	Uncertain significance (Mar 01, 2024)
16-28608813-C-T		not specified	Uncertain significance (Dec 15, 2023)
16-28608829-G-A			Likely benign (May 01, 2022)
16-28608830-C-T		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SULT1A1	protein_coding	protein_coding	ENST00000395609	7	18044

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.04e-11	0.0442	125578	6	123	125707	0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.19	219	175	1.25	0.0000105	1913
Missense in Polyphen		77	59.01	1.3049		728
Synonymous	-3.39	106	69.9	1.52	0.00000451	538
Loss of Function	-0.0732	16	15.7	1.02	8.58e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00198	0.00198
Ashkenazi Jewish	0.00	0.00
East Asian	0.00163	0.00163
Finnish	0.00	0.00
European (Non-Finnish)	0.000353	0.000325
Middle Eastern	0.00163	0.00163
South Asian	0.000261	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Has also estrogen sulfotransferase activity. responsible for the sulfonation and activation of minoxidil. Is Mediates the metabolic activation of carcinogenic N- hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk. {ECO:0000269|PubMed:12471039, ECO:0000269|PubMed:16221673}.
• Pathway: Chemical carcinogenesis - Homo sapiens (human);Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics;Estrogen Metabolism Pathway;Tamoxifen Pathway, Pharmacokinetics;Pathway_PA165986194 -need delete;Acetaminophen Pathway, Pharmacokinetics;Sulfate/Sulfite Metabolism;Sulfite oxidase deficiency;Tamoxifen Action Pathway;Lamivudine Metabolism Pathway;Acetaminophen Metabolism Pathway;Tamoxifen Metabolism Pathway;Constitutive Androstane Receptor Pathway;Nuclear Receptors Meta-Pathway;Melatonin metabolism and effects;Liver steatosis AOP;Tamoxifen metabolism;Sulfation Biotransformation Reaction;Arylamine metabolism;Estrogen metabolism;Metapathway biotransformation Phase I and II;Vitamin A and Carotenoid Metabolism;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Cytosolic sulfonation of small molecules;thyroid hormone metabolism II (via conjugation and/or degradation);serotonin degradation;superpathway of tryptophan utilization;melatonin degradation I;superpathway of melatonin degradation (Consensus)

Recessive Scores

• pRec: 0.407

Intolerance Scores

• loftool: 0.205
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.16

Haploinsufficiency Scores

• pHI: 0.0997
• hipred: N
• hipred_score: 0.172
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.969

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Sult1a1
• Phenotype: liver/biliary system phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: ethanol catabolic process;catecholamine metabolic process;xenobiotic metabolic process;estrogen metabolic process;amine metabolic process;flavonoid metabolic process;3'-phosphoadenosine 5'-phosphosulfate metabolic process;sulfation
• Cellular component: cytosol
• Molecular function: aryl sulfotransferase activity;protein binding;sulfotransferase activity;flavonol 3-sulfotransferase activity;steroid sulfotransferase activity