TPST1
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Also known as TANGO13A
Summary
TPST1 (tyrosylprotein sulfotransferase 1, HGNC:12020) is a protein-coding gene on chromosome 7q11.21, encoding Protein-tyrosine sulfotransferase 1 (O60507). Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3’-phosphoadenylyl sulfate (PAPS) as cosubstrate.
Enables protein homodimerization activity and protein-tyrosine sulfotransferase activity. Involved in post-translational protein modification. Located in Golgi membrane. Implicated in colorectal adenocarcinoma.
Source: NCBI Gene 8460 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 48 total
- MANE Select transcript:
NM_003596
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12020 |
| Approved symbol | TPST1 |
| Name | tyrosylprotein sulfotransferase 1 |
| Location | 7q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TANGO13A |
| Ensembl gene | ENSG00000169902 |
| Ensembl biotype | protein_coding |
| OMIM | 603125 |
| Entrez | 8460 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 28 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000304842, ENST00000442120, ENST00000451388, ENST00000480281, ENST00000490159, ENST00000649664, ENST00000904436, ENST00000904437, ENST00000904438, ENST00000904439, ENST00000904440, ENST00000904441, ENST00000904442, ENST00000904443, ENST00000904444, ENST00000904445, ENST00000904446, ENST00000904447, ENST00000904448, ENST00000904449, ENST00000935281, ENST00000935282, ENST00000935283, ENST00000935284, ENST00000935285, ENST00000967658, ENST00000967659, ENST00000967660, ENST00000967661, ENST00000967662
RefSeq mRNA: 1 — MANE Select: NM_003596
NM_003596
CCDS: CCDS5533
Canonical transcript exons
ENST00000304842 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001131417 | 66240325 | 66241270 |
| ENSE00001167449 | 66359895 | 66360443 |
| ENSE00001945148 | 66205334 | 66205522 |
| ENSE00003546755 | 66356825 | 66356871 |
| ENSE00003673981 | 66286511 | 66286709 |
| ENSE00003691193 | 66352505 | 66352555 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 96.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.9728 / max 325.6449, expressed in 1722 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78858 | 34.8235 | 1708 |
| 78857 | 4.0171 | 1456 |
| 78859 | 0.0767 | 26 |
| 78860 | 0.0554 | 22 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 96.38 | gold quality |
| gall bladder | UBERON:0002110 | 94.46 | gold quality |
| endocervix | UBERON:0000458 | 93.22 | gold quality |
| ectocervix | UBERON:0012249 | 92.44 | gold quality |
| tibia | UBERON:0000979 | 92.42 | gold quality |
| periodontal ligament | UBERON:0008266 | 90.97 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.92 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.37 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.68 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.44 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.37 | gold quality |
| right testis | UBERON:0004534 | 88.98 | gold quality |
| decidua | UBERON:0002450 | 88.92 | gold quality |
| pituitary gland | UBERON:0000007 | 88.76 | gold quality |
| left testis | UBERON:0004533 | 88.46 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.36 | gold quality |
| urinary bladder | UBERON:0001255 | 87.98 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.91 | gold quality |
| hypothalamus | UBERON:0001898 | 87.82 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.55 | gold quality |
| liver | UBERON:0002107 | 87.46 | gold quality |
| testis | UBERON:0000473 | 87.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 87.27 | gold quality |
| right ovary | UBERON:0002118 | 87.27 | gold quality |
| spinal cord | UBERON:0002240 | 87.27 | gold quality |
| right adrenal gland | UBERON:0001233 | 87.08 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.03 | gold quality |
| vagina | UBERON:0000996 | 87.02 | gold quality |
| endometrium | UBERON:0001295 | 86.99 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.85 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 2104.17 |
| E-MTAB-10287 | yes | 100.45 |
| E-GEOD-84465 | yes | 23.31 |
| E-CURD-112 | no | 2.95 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting TPST1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-10523-5P | 99.91 | 69.22 | 2038 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-1237-3P | 98.55 | 67.65 | 1423 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-93-3P | 98.15 | 66.65 | 1309 |
| HSA-MIR-335-5P | 97.10 | 68.12 | 1022 |
| HSA-MIR-598-3P | 89.25 | 67.61 | 112 |
Literature-anchored findings (GeneRIF, showing 9)
- results exclude TPST1 as the causative gene for Shwachman-Diamond syndrome (PMID:12032733)
- Shear stress-dependent downregulation of TPST1 in human endothelium involves protein kinase C (PMID:12056800)
- Tyrosine sulfation of CCR5 N-terminal peptide follows a discrete pattern and temporal sequence (PMID:12169668)
- Affinity purified salivary TPST showed a single band of 50-54 kDa and is the first report characterizing a tyrosylprotein sulfotransferase in secretory fluid from the parotid gland (PMID:16244708)
- Human tyrosylprotein sulfotransferase may be functional as homodimer/oligomer in the trans-Golgi compartment. (PMID:16859706)
- The kinetic parameters of tyrosylprotein sulfotransferase-1 and -2, catalyzing tyrosine sulfation of CCR8 peptides, were determined using liquid chromatography electrospray ionisation mass spectrometry. (PMID:18672380)
- up-regulation of TPST-1 and tyrosine sulfation of CXCR4 by LMP1 might be a potential mechanism contributing to nasopharyngeal carcinoma metastasis (PMID:23472069)
- TPST1 rs3757417T>G polymorphisms are associated with colorectal cancer. (PMID:25079514)
- TPST1 was significantly negatively correlated with the expression of cMet in lung cancer and may be a negative prognostic biomarker of lung cancer. (PMID:26238632)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tpst1 | ENSDARG00000073872 |
| mus_musculus | Tpst1 | ENSMUSG00000034118 |
| rattus_norvegicus | Tpst1 | ENSRNOG00000000900 |
| drosophila_melanogaster | Tpst | FBGN0086674 |
| caenorhabditis_elegans | WBGENE00013737 | |
| caenorhabditis_elegans | WBGENE00018365 |
Paralogs (1): TPST2 (ENSG00000128294)
Protein
Protein identifiers
Protein-tyrosine sulfotransferase 1 — O60507 (reviewed: O60507)
Alternative names: Tyrosylprotein sulfotransferase 1
All UniProt accessions (3): O60507, C9J3I4, C9K0F3
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3’-phosphoadenylyl sulfate (PAPS) as cosubstrate.
Subunit / interactions. Homodimer. Can also form heterodimers with TPST2.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Post-translational modifications. N-glycosylated.
Similarity. Belongs to the protein sulfotransferase family.
RefSeq proteins (1): NP_003587* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026634 | TPST-like | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF13469
Enzyme classification (BRENDA):
- EC 2.8.2.20 — protein-tyrosine sulfotransferase (BRENDA: 19 organisms, 159 substrates, 69 inhibitors, 77 Km, 8 kcat entries)
Substrate kinetics (BRENDA)
36 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3’-PHOSPHOADENYLYL SULFATE | 0.0021–0.59 | 9 |
| EAY | — | 7 |
| 3’-PHOSPHOADENYLYLSULFATE | 0.0003–0.02 | 4 |
| VTDYYYPDI | 0.0193–120 | 4 |
| BENZYL-GLU-TYR | 1.223–1.297 | 2 |
| EEFHTDYIYTQDVK | 0.071–0.457 | 2 |
| P-SELECTIN GLYCOPROTEIN LIGAND-1 | 0.011–0.053 | 2 |
| PEPTIDE HIR-(57-65) | 0.24–0.41 | 2 |
| PEPTIDE Y+1 TYROSINE | 0.002–0.0044 | 2 |
| PSGL-1 | 0.0097–0.0269 | 2 |
| STATHERIN | 0.04 | 2 |
| TYR-TYR-TYR | 0.0175–0.022 | 2 |
| VTDSYYSYPDI | 17–21 | 2 |
| [Y+3 PEPTIDE]-L-TYROSINE | 0.0018–0.0019 | 2 |
| ATEFEFLDYDFL | 0.0315 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- L-tyrosyl-[protein] + 3’-phosphoadenylyl sulfate = O-sulfo-L-tyrosine-[protein] + adenosine 3’,5’-bisphosphate + H(+) (RHEA:16801)
UniProt features (44 total): helix 15, binding site 7, strand 6, topological domain 2, site 2, glycosylation site 2, disulfide bond 2, mutagenesis site 2, turn 2, chain 1, transmembrane region 1, region of interest 1, active site 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WRI | X-RAY DIFFRACTION | 1.6 |
| 5WRJ | X-RAY DIFFRACTION | 2.31 |
| 9WP1 | X-RAY DIFFRACTION | 3.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60507-F1 | 91.62 | 0.78 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 159 (transition state stabilizer); 286 (transition state stabilizer); 100 (proton donor/acceptor)
Ligand- & substrate-binding residues (7): 239; 286–295; 301; 79–83; 184; 192; 196
Disulfide bonds (2): 97–157, 226–234
Glycosylation sites (2): 60, 262
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 60 | loss of one glycosylation site. loss of n-glycosylation; when associated with a-262. |
| 262 | loss of one glycosylation site. loss of n-glycosylation; when associated with a-60. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-156584 | Cytosolic sulfonation of small molecules |
| R-HSA-163841 | Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation |
| R-HSA-9674519 | Defective F8 sulfation at Y1699 |
MSigDB gene sets: 251 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, REACTOME_BIOLOGICAL_OXIDATIONS, TTTGTAG_MIR520D, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_SULFATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOCC_TRANS_GOLGI_NETWORK, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, FOSTER_TOLERANT_MACROPHAGE_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_UP, GENTILE_UV_HIGH_DOSE_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_ORGANIC_ACID_METABOLIC_PROCESS
GO Biological Process (3): post-translational protein modification (GO:0043687), 3’-phosphoadenosine 5’-phosphosulfate metabolic process (GO:0050427), peptidyl-tyrosine sulfation (GO:0006478)
GO Molecular Function (3): protein-tyrosine sulfotransferase activity (GO:0008476), protein homodimerization activity (GO:0042803), transferase activity (GO:0016740)
GO Cellular Component (5): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi lumen (GO:0005796), trans-Golgi network (GO:0005802), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
| Post-translational protein modification | 1 |
| Defective factor VIII causes hemophilia A | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| Golgi apparatus | 2 |
| protein modification process | 1 |
| sulfur compound metabolic process | 1 |
| purine ribonucleotide metabolic process | 1 |
| purine ribonucleoside bisphosphate metabolic process | 1 |
| oxoacid metabolic process | 1 |
| protein sulfation | 1 |
| peptidyl-tyrosine modification | 1 |
| sulfotransferase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| catalytic activity | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular organelle lumen | 1 |
| Golgi apparatus subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1799 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TPST1 | SBDS | Q9Y3A5 | 806 |
| TPST1 | SELPLG | Q14242 | 594 |
| TPST1 | ELANE | P08246 | 543 |
| TPST1 | CCR2 | P41597 | 522 |
| TPST1 | SLC35B2 | Q8TB61 | 517 |
| TPST1 | PUSL1 | Q8N0Z8 | 500 |
| TPST1 | SELP | P16109 | 480 |
| TPST1 | PSG2 | P11465 | 480 |
| TPST1 | PAPSS1 | O43252 | 461 |
| TPST1 | MTMR11 | A4FU01 | 402 |
| TPST1 | WDR33 | Q9C0J8 | 401 |
| TPST1 | CTNS | O60931 | 394 |
| TPST1 | SLC35B3 | Q9H1N7 | 391 |
| TPST1 | PSD3 | Q9NYI0 | 387 |
| TPST1 | HS2ST1 | Q7LGA3 | 383 |
IntAct
30 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| B2M | KPNA3 | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | TPST1 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNE3 | RIOK3 | psi-mi:“MI:0914”(association) | 0.530 |
| TPST1 | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| TPST1 | ACTB | psi-mi:“MI:0915”(physical association) | 0.400 |
| TPST1 | HSPA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ADGRE5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GINM1 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC12B | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| TPST2 | NDC80 | psi-mi:“MI:0914”(association) | 0.350 |
| PMCH | B4GALT5 | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| GDPD5 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| SDC1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A10 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A11 | PSMD9 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A14 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A8 | SPTLC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (35): ACTB (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS), ACTB (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-RNA), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS), TPST1 (Affinity Capture-MS)
ESM2 similar proteins: A5GFW8, A5Z2X3, E9Q649, F1QWZ4, L7YAI7, O15466, O35696, O43173, O43529, O54702, O60507, O70281, O93403, P54751, P61643, P61644, P61645, P61646, P70126, Q02745, Q07977, Q09272, Q11200, Q11201, Q16WU7, Q18078, Q18079, Q29G54, Q3KR92, Q5RBZ6, Q5ZIE4, Q64689, Q64690, Q64692, Q6AXM1, Q6GNS1, Q6KB59, Q6PGK7, Q6ZNI0, Q6ZXC8
Diamond homologs: A8XLL3, O60507, O60704, O70281, O77081, O88856, Q20351, Q3KR92, Q3SYY2, Q4R863, Q5RJS8, Q5ZJI0, Q9PTE6, Q9VYB7, P55472
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1407 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:66286509:A:AG | acceptor_gain | 1.0000 |
| 7:66286509:AGAGT:A | acceptor_gain | 1.0000 |
| 7:66286510:G:GA | acceptor_gain | 1.0000 |
| 7:66286510:GA:G | acceptor_gain | 1.0000 |
| 7:66286510:GAGT:G | acceptor_gain | 1.0000 |
| 7:66286510:GAGTG:G | acceptor_gain | 1.0000 |
| 7:66286705:GAAGG:G | donor_gain | 1.0000 |
| 7:66286706:AAGG:A | donor_gain | 1.0000 |
| 7:66286707:AGG:A | donor_gain | 1.0000 |
| 7:66286708:GG:G | donor_gain | 1.0000 |
| 7:66286708:GGG:G | donor_gain | 1.0000 |
| 7:66286708:GGGTA:G | donor_loss | 1.0000 |
| 7:66286709:GG:G | donor_gain | 1.0000 |
| 7:66286710:G:GG | donor_gain | 1.0000 |
| 7:66286711:T:G | donor_loss | 1.0000 |
| 7:66224423:C:T | donor_gain | 0.9900 |
| 7:66286507:TCAG:T | acceptor_gain | 0.9900 |
| 7:66286508:CAG:C | acceptor_gain | 0.9900 |
| 7:66286509:AGA:A | acceptor_gain | 0.9900 |
| 7:66286510:G:T | acceptor_gain | 0.9900 |
| 7:66205523:GT:G | donor_loss | 0.9800 |
| 7:66205524:T:A | donor_loss | 0.9800 |
| 7:66205919:GTT:G | donor_gain | 0.9800 |
| 7:66228416:T:G | donor_gain | 0.9800 |
| 7:66240324:GAT:G | acceptor_gain | 0.9800 |
| 7:66241271:G:GG | donor_gain | 0.9800 |
| 7:66286499:T:TA | acceptor_gain | 0.9800 |
| 7:66326288:AATTC:A | donor_gain | 0.9800 |
| 7:66326289:ATTCA:A | donor_gain | 0.9800 |
| 7:66356823:A:AG | acceptor_gain | 0.9800 |
AlphaMissense
2415 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:66240666:G:A | G81R | 1.000 |
| 7:66240666:G:C | G81R | 1.000 |
| 7:66240667:G:A | G81E | 1.000 |
| 7:66240667:G:T | G81V | 1.000 |
| 7:66240676:T:C | L84P | 1.000 |
| 7:66240682:G:T | R86M | 1.000 |
| 7:66240714:T:C | C97R | 1.000 |
| 7:66240715:G:A | C97Y | 1.000 |
| 7:66240716:T:G | C97W | 1.000 |
| 7:66240723:G:A | E100K | 1.000 |
| 7:66240724:A:T | E100V | 1.000 |
| 7:66240733:T:A | V103D | 1.000 |
| 7:66240796:T:C | L124P | 1.000 |
| 7:66240811:T:A | V129D | 1.000 |
| 7:66240835:C:A | A137D | 1.000 |
| 7:66240894:T:C | C157R | 1.000 |
| 7:66240895:G:A | C157Y | 1.000 |
| 7:66240896:T:G | C157W | 1.000 |
| 7:66240900:A:C | K159Q | 1.000 |
| 7:66240900:A:G | K159E | 1.000 |
| 7:66240901:A:T | K159I | 1.000 |
| 7:66240902:A:C | K159N | 1.000 |
| 7:66240902:A:T | K159N | 1.000 |
| 7:66240903:G:C | D160H | 1.000 |
| 7:66240904:A:G | D160G | 1.000 |
| 7:66240979:A:T | D185V | 1.000 |
| 7:66240999:T:C | S192P | 1.000 |
| 7:66241068:T:A | W215R | 1.000 |
| 7:66241068:T:C | W215R | 1.000 |
| 7:66241070:G:C | W215C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007360 (7:66341149 G>A), RS1000047648 (7:66293737 T>C), RS1000055980 (7:66254191 T>TG), RS1000079758 (7:66323021 T>C), RS1000127791 (7:66254459 A>G), RS1000144849 (7:66236487 T>C), RS1000147905 (7:66281347 T>A,G), RS1000196965 (7:66203776 C>T), RS1000201224 (7:66281683 G>C), RS1000205422 (7:66296249 C>T), RS1000238458 (7:66199433 T>C), RS1000251899 (7:66354411 GT>G), RS1000268995 (7:66327265 A>C), RS1000310027 (7:66307410 G>A), RS1000313697 (7:66321646 G>A)
Disease associations
OMIM: gene MIM:603125 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001356_6 | Gout | 1.000000e-07 |
| GCST001356_7 | Gout | 1.000000e-07 |
| GCST006585_2642 | Blood protein levels | 1.000000e-31 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Dexamethasone | decreases expression, affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects expression, increases reaction | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| glycidyl methacrylate | increases expression | 1 |
| lead acetate | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 1 |
| tibolone | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine | affects expression, increases reaction | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | affects expression, increases reaction | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Calcitriol | increases expression | 1 |
| Carcinogens | decreases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Mutagens | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8CV | Ubigene A-549 TPST1 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gout