SULT1B1

protein-coding

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

Gene summary

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. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008]

MANE transcript

NM_014465.4

Inheritance

—

ClinVar variants

U:38B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.82

Max pathogenic AF

—

Genomic locus

chr4:69,721,167-69,787,961

External References & Databases

Ensembl (ENSG00000173597)

Transcript & Mutation Effects

hg38 • Region Span ~66.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

schizophreniaNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0005090

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SULT1B1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 37

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014465.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar		1 clinvar	3
missense			36 clinvar	2 clinvar	1 clinvar	39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	2	2	42

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014465.4	RefSeq	NP_055280.2	7	MANE Select
ENST00000310613.8	Ensembl	ENSP00000308770.2	7	MANE Select
ENST00000510821.1	Ensembl	ENSP00000425464.1	4	Standard
ENST00000512870.1	Ensembl	ENSP00000427536.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Sulfation Biotransformation Reaction
Metapathway biotransformation Phase I and II
Phase II - Conjugation of compounds
Biological oxidations
Metabolism

Biological Process

ethanol catabolic process
cellular biogenic amine metabolic process
xenobiotic metabolic process
steroid metabolic process
flavonoid metabolic process

Molecular Function

aryl sulfotransferase activity
protein binding
sulfotransferase activity

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000310613
Coding exons: 7
Length: 66800
Individuals with no LoFs: 125659
Homozygous LoFs: 0
Heterozygous LoFs: 79
Defined: 125738
p: 0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.445	172	156	1.10	0.00000764	1980
Missense (PolyPhen)		72	61.294	1.1747		747
Synonymous	-1.36	62	49.8	1.25	0.00000237	504
Loss of Function	0.645	13	15.8	0.825	8.33e-7	194

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00048	0.00046	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00033	0.00033	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00030	0.00030	rare
South Asian	0.00037	0.00036	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3'-diiodothyronine, triidothyronine, reverse triiodothyronine and thyroxine. {ECO:0000269|PubMed:9443824, ECO:0000269|PubMed:9463486}.;

Recessive Scores

pRec: 0.148

Intolerance Scores

LoFtool: 0.552
RVIS EVS: 0.11
RVIS percentile EVS: 61.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.700

Gene Damage Prediction

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