TPST1

protein-coding

tyrosylprotein sulfotransferase 1, the group of Sulfotransferases, membrane bound

Gene summary

Enables protein homodimerization activity and protein-tyrosine sulfotransferase activity. Involved in post-translational protein modification. Located in Golgi membrane. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_003596.4

Inheritance

—

ClinVar variants

U:45

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.24

Max pathogenic AF

—

Genomic locus

chr7:66,205,317-66,420,543

External References & Databases

Ensembl (ENSG00000169902)

Transcript & Mutation Effects

hg38 • Region Span ~215.2 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TPST1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 45

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003596.4. 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						0
missense			45 clinvar			45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	0	0	45

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 75 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003596.4	RefSeq	NP_003587.1	4	MANE Select
ENST00000304842.6	Ensembl	ENSP00000302413.5	4	MANE Select
ENST00000442120.1	Ensembl	ENSP00000399642.1	1	Standard
ENST00000451388.1	Ensembl	ENSP00000391338.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Phase II - Conjugation of compounds
Biological oxidations
Metabolism
Cytosolic sulfonation of small molecules

Biological Process

peptidyl-tyrosine sulfation
inflammatory response
3'-phosphoadenosine 5'-phosphosulfate metabolic process

Molecular Function

protein-tyrosine sulfotransferase activity
protein homodimerization activity

Cellular Component

Golgi membrane
Golgi apparatus
membrane
integral component of Golgi membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000304842
Coding exons: 4
Length: 215345
Individuals with no LoFs: 125731
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 125747
p: 0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.36	155	210	0.737	0.0000111	2407
Missense (PolyPhen)		49	82.842	0.59149		892
Synonymous	0.844	64	73.2	0.875	0.00000350	730
Loss of Function	2.90	4	16.8	0.238	0.00000101	195

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0.000034	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate. {ECO:0000269|PubMed:28821720, ECO:0000269|PubMed:9501187, ECO:0000269|PubMed:9733778}.;

Recessive Scores

pRec: 0.124

Intolerance Scores

LoFtool: 0.360
RVIS EVS: -0.25
RVIS percentile EVS: 35.75

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.561

Gene Damage Prediction

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