XXYLT1
gene geneOn this page
Also known as FLJ35155
Summary
XXYLT1 (xyloside xylosyltransferase 1, HGNC:26639) is a protein-coding gene on chromosome 3q29, encoding Xyloside xylosyltransferase 1 (Q8NBI6). Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose.
Enables magnesium ion binding activity; manganese ion binding activity; and xylosyl alpha-1,3-xylosyltransferase activity. Involved in O-glycan processing. Located in endoplasmic reticulum membrane.
Source: NCBI Gene 152002 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 95 total
- MANE Select transcript:
NM_152531
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26639 |
| Approved symbol | XXYLT1 |
| Name | xyloside xylosyltransferase 1 |
| Location | 3q29 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ35155 |
| Ensembl gene | ENSG00000173950 |
| Ensembl biotype | protein_coding |
| OMIM | 614552 |
| Entrez | 152002 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding_CDS_not_defined, 4 protein_coding, 2 nonsense_mediated_decay
ENST00000310380, ENST00000356740, ENST00000418940, ENST00000429994, ENST00000437101, ENST00000455281, ENST00000460582, ENST00000473200, ENST00000476897, ENST00000491138, ENST00000494175, ENST00000496644
RefSeq mRNA: 3 — MANE Select: NM_152531
NM_001308069, NM_001410854, NM_152531
CCDS: CCDS43188, CCDS77874, CCDS93439
Canonical transcript exons
ENST00000310380 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001188432 | 195270555 | 195271159 |
| ENSE00001429013 | 195068284 | 195070111 |
| ENSE00003512177 | 195156449 | 195156581 |
| ENSE00003566171 | 195226709 | 195226856 |
Expression profiles
Bgee: expression breadth ubiquitous, 181 present calls, max score 87.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9179 / max 92.0075, expressed in 1746 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46260 | 5.8092 | 1679 |
| 46259 | 4.9258 | 1603 |
| 46257 | 0.1829 | 48 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 87.74 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.20 | gold quality |
| cortical plate | UBERON:0005343 | 87.12 | gold quality |
| ventricular zone | UBERON:0003053 | 84.57 | gold quality |
| monocyte | CL:0000576 | 83.77 | gold quality |
| secondary oocyte | CL:0000655 | 83.50 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.46 | gold quality |
| embryo | UBERON:0000922 | 83.45 | gold quality |
| leukocyte | CL:0000738 | 83.42 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.37 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 80.95 | gold quality |
| esophagus mucosa | UBERON:0002469 | 80.71 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 80.15 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.69 | silver quality |
| ectocervix | UBERON:0012249 | 79.49 | gold quality |
| colonic epithelium | UBERON:0000397 | 79.17 | gold quality |
| skin of leg | UBERON:0001511 | 78.89 | gold quality |
| skin of abdomen | UBERON:0001416 | 78.79 | gold quality |
| esophagus | UBERON:0001043 | 78.74 | gold quality |
| body of uterus | UBERON:0009853 | 78.32 | gold quality |
| granulocyte | CL:0000094 | 78.03 | gold quality |
| vermiform appendix | UBERON:0001154 | 77.68 | gold quality |
| kidney epithelium | UBERON:0004819 | 77.54 | gold quality |
| zone of skin | UBERON:0000014 | 77.17 | gold quality |
| left uterine tube | UBERON:0001303 | 77.04 | gold quality |
| metanephros cortex | UBERON:0010533 | 77.04 | gold quality |
| vagina | UBERON:0000996 | 76.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 76.88 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 76.87 | gold quality |
| lower esophagus | UBERON:0013473 | 76.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.89 |
| E-GEOD-99795 | no | 47.12 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting XXYLT1, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
Literature-anchored findings (GeneRIF, showing 2)
- our study concluded that C30rf21 rs 2131877 T/C+C/C genotype patients may experience increased nicotine addiction and that C30rf21 can likely serve as a susceptibility marker for lung adenocarcinoma with a higher degree of malignancy. (PMID:28422717)
- XXYLT1 methylation contributes to the occurrence of lung adenocarcinoma: Methylation and lung adenocarcinoma. (PMID:33429795)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | xxylt1 | ENSDARG00000088799 |
| mus_musculus | Xxylt1 | ENSMUSG00000047434 |
| rattus_norvegicus | Xxylt1 | ENSRNOG00000001729 |
| drosophila_melanogaster | Xxylt | FBGN0034959 |
| caenorhabditis_elegans | bgnt-1.8 | WBGENE00008290 |
| caenorhabditis_elegans | WBGENE00009032 | |
| caenorhabditis_elegans | bgnt-1.6 | WBGENE00010167 |
| caenorhabditis_elegans | WBGENE00010694 | |
| caenorhabditis_elegans | bgnt-1.7 | WBGENE00011779 |
| caenorhabditis_elegans | WBGENE00015982 | |
| caenorhabditis_elegans | WBGENE00017723 |
Paralogs (5): LARGE1 (ENSG00000133424), GXYLT1 (ENSG00000151233), LARGE2 (ENSG00000165905), GXYLT2 (ENSG00000172986), B4GAT1 (ENSG00000174684)
Protein
Protein identifiers
Xyloside xylosyltransferase 1 — Q8NBI6 (reviewed: Q8NBI6)
Alternative names: UDP-xylose:alpha-xyloside alpha-1,3-xylosyltransferase
All UniProt accessions (4): Q8NBI6, A0A140T9D0, F8WEN6, H7C2F4
UniProt curated annotations — full annotation on UniProt →
Function. Alpha-1,3-xylosyltransferase, which elongates the O-linked xylose-glucose disaccharide attached to EGF-like repeats in the extracellular domain of target proteins by catalyzing the addition of the second xylose. Known targets include Notch proteins and coagulation factors, such as F9.
Subunit / interactions. Homodimer. Dimer formation may be essential for the retention in endoplasmic reticulum.
Subcellular location. Endoplasmic reticulum membrane.
Cofactor. Has the highest in vitro activity with 20 mM Mn(2+), a concentration entirely out of the physiological range. Can also utilize Mg(2+), suggesting this may be the physiological cofactor.
Similarity. Belongs to the glycosyltransferase 8 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NBI6-1 | 1 | yes |
| Q8NBI6-2 | 2 | |
| Q8NBI6-3 | 3 |
RefSeq proteins (3): NP_001294998, NP_001397783, NP_689744* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002495 | Glyco_trans_8 | Family |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
| IPR042465 | XXLT1 | Family |
Pfam: PF01501
Enzyme classification (BRENDA):
- EC 2.4.2.62 — xylosyl alpha-1,3-xylosyltransferase (BRENDA: 2 organisms, 6 substrates, 1 inhibitors, 2 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| N-PYRIDIN-2-YL-3-O-ALPHA-D-XYLOPYRANOSYL-BETA-D- | 52 | 1 |
| UDP-D-XYLOSE | 0.28 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- 3-O-[alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + UDP-alpha-D-xylose = 3-O-[alpha-D-xylosyl-(1->3)-alpha-D-xylosyl-(1->3)-beta-D-glucosyl]-L-seryl-[EGF-like domain protein] + UDP + H(+) (RHEA:22820)
UniProt features (22 total): binding site 11, splice variant 4, topological domain 2, disulfide bond 2, chain 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NBI6-F1 | 85.52 | 0.70 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (11): 328; 331; 331; 360; 383; 385; 104–106; 226; 227; 228; 290
Disulfide bonds (2): 350–375, 357–386
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 118 (showing top):
GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, ACEVEDO_LIVER_CANCER_UP, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, ZHENG_BOUND_BY_FOXP3, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_MAGNESIUM_ION_BINDING, GOMF_MANGANESE_ION_BINDING, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_PENTOSYLTRANSFERASE_ACTIVITY, GOBP_GLYCOPROTEIN_BIOSYNTHETIC_PROCESS
GO Biological Process (2): protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), protein O-linked glycosylation via glucose (GO:0180059)
GO Molecular Function (7): magnesium ion binding (GO:0000287), manganese ion binding (GO:0030145), UDP-xylosyltransferase activity (GO:0035252), xylosyl alpha-1,3-xylosyltransferase activity (GO:0140560), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), metal ion binding (GO:0046872)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein O-linked glycosylation | 2 |
| metal ion binding | 1 |
| transition metal ion binding | 1 |
| UDP-glycosyltransferase activity | 1 |
| xylosyltransferase activity | 1 |
| UDP-xylosyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| cation binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
440 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| XXYLT1 | POGLUT1 | Q8NBL1 | 805 |
| XXYLT1 | GXYLT2 | A0PJZ3 | 787 |
| XXYLT1 | POFUT1 | Q9H488 | 669 |
| XXYLT1 | POGLUT2 | Q6UW63 | 590 |
| XXYLT1 | EOGT | Q5NDL2 | 576 |
| XXYLT1 | GXYLT1 | Q4G148 | 511 |
| XXYLT1 | XYLT1 | Q86Y38 | 488 |
| XXYLT1 | POGLUT3 | Q7Z4H8 | 475 |
| XXYLT1 | FAM43A | Q8N2R8 | 460 |
| XXYLT1 | SCAMP4 | Q969E2 | 460 |
| XXYLT1 | FAM174B | Q3ZCQ3 | 445 |
| XXYLT1 | ALG11 | Q2TAA5 | 419 |
| XXYLT1 | B3GAT3 | O94766 | 415 |
| XXYLT1 | ATP13A3 | Q9H7F0 | 407 |
| XXYLT1 | REEP3 | Q6NUK4 | 406 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BCL2 | BCL2L11 | psi-mi:“MI:0914”(association) | 0.930 |
| SCN3B | ABCC5 | psi-mi:“MI:0914”(association) | 0.530 |
| MPP1 | MYH11 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC15A4 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSPO | psi-mi:“MI:0914”(association) | 0.350 | |
| CUL4A | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| IZUMO1 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| HAUS7 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| MINDY2 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| SEC61B | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| TMED10 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| XXYLT1 | PRMT3 | psi-mi:“MI:0914”(association) | 0.350 |
| FFAR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN3B | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| GXYLT1 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| HAUS7 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.350 |
| HTR1B | SCAMP2 | psi-mi:“MI:0914”(association) | 0.350 |
| NCAPH2 | FANCA | psi-mi:“MI:0914”(association) | 0.350 |
| H1-7 | PTX3 | psi-mi:“MI:0914”(association) | 0.350 |
| IL12A | PTX3 | psi-mi:“MI:0914”(association) | 0.350 |
| MTX2 | RP2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN3B | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| XXYLT1 | WFS1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A10 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (76): XXYLT1 (Affinity Capture-RNA), XXYLT1 (Affinity Capture-RNA), XXYLT1 (Affinity Capture-RNA), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-RNA), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS), XXYLT1 (Affinity Capture-MS)
ESM2 similar proteins: A1A4K5, O95461, P14769, P50127, P79948, Q32NJ7, Q5DTK1, Q5E9E7, Q5M854, Q5M900, Q5NDE3, Q5NDE4, Q5NDE5, Q5NDE8, Q5NDF0, Q5NDF1, Q5NDF2, Q5QQ57, Q5XPT3, Q66PG1, Q66PG2, Q66PG3, Q66PG4, Q68CQ7, Q6AYF6, Q6GMK0, Q6GQI7, Q6KFX9, Q6NRQ1, Q6NSU3, Q6P7A1, Q6P9A2, Q6PA90, Q70JA7, Q812G0, Q86Y38, Q8BJQ9, Q8BW41, Q8C1F4, Q8HY56
Diamond homologs: Q3U4G3, Q6DE37, Q8NBI6
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| XXYLT1 | up-regulates | NOTCH1 | binding |
| XXYLT1 | up-regulates | NOTCH | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 56 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular zinc ion homeostasis | 5 | 44.6× | 5e-05 |
| amino acid transport | 5 | 28.9× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
95 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 85 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3232 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:195070107:TGTGC:T | acceptor_gain | 1.0000 |
| 3:195070108:GTGC:G | acceptor_gain | 1.0000 |
| 3:195070109:TGC:T | acceptor_gain | 1.0000 |
| 3:195070110:GC:G | acceptor_gain | 1.0000 |
| 3:195070111:CC:C | acceptor_gain | 1.0000 |
| 3:195070112:C:CA | acceptor_loss | 1.0000 |
| 3:195070112:C:CC | acceptor_gain | 1.0000 |
| 3:195156444:CGCA:C | donor_loss | 1.0000 |
| 3:195156445:GCACC:G | donor_loss | 1.0000 |
| 3:195156446:CACCT:C | donor_loss | 1.0000 |
| 3:195156447:ACCTG:A | donor_loss | 1.0000 |
| 3:195156448:CCTGT:C | donor_loss | 1.0000 |
| 3:195156577:GATCT:G | acceptor_gain | 1.0000 |
| 3:195156578:ATCT:A | acceptor_gain | 1.0000 |
| 3:195156578:ATCTC:A | acceptor_gain | 1.0000 |
| 3:195156579:TCTCT:T | acceptor_gain | 1.0000 |
| 3:195156580:CT:C | acceptor_gain | 1.0000 |
| 3:195156582:C:CC | acceptor_gain | 1.0000 |
| 3:195156586:G:T | acceptor_gain | 1.0000 |
| 3:195180392:T:TA | donor_gain | 1.0000 |
| 3:195180393:C:A | donor_gain | 1.0000 |
| 3:195226703:GGTTA:G | donor_loss | 1.0000 |
| 3:195226704:GTTA:G | donor_loss | 1.0000 |
| 3:195226705:TTA:T | donor_loss | 1.0000 |
| 3:195226706:TA:T | donor_loss | 1.0000 |
| 3:195226707:A:C | donor_loss | 1.0000 |
| 3:195226708:C:CA | donor_loss | 1.0000 |
| 3:195226861:A:T | acceptor_gain | 1.0000 |
| 3:195226863:CAGG:C | acceptor_gain | 1.0000 |
| 3:195226866:G:C | acceptor_gain | 1.0000 |
AlphaMissense
2572 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:195069739:G:C | C386W | 0.999 |
| 3:195069740:C:T | C386Y | 0.999 |
| 3:195069742:G:C | N385K | 0.999 |
| 3:195069742:G:T | N385K | 0.999 |
| 3:195069746:C:T | G384E | 0.999 |
| 3:195069750:G:C | H383D | 0.999 |
| 3:195070030:G:C | N289K | 0.999 |
| 3:195070030:G:T | N289K | 0.999 |
| 3:195156551:T:A | D228V | 0.999 |
| 3:195156557:T:A | D226V | 0.999 |
| 3:195156557:T:G | D226A | 0.999 |
| 3:195069740:C:A | C386F | 0.998 |
| 3:195069740:C:G | C386S | 0.998 |
| 3:195069741:A:G | C386R | 0.998 |
| 3:195069741:A:T | C386S | 0.998 |
| 3:195069746:C:A | G384V | 0.998 |
| 3:195069747:C:A | G384W | 0.998 |
| 3:195069817:C:A | W360C | 0.998 |
| 3:195069817:C:G | W360C | 0.998 |
| 3:195069826:G:C | C357W | 0.998 |
| 3:195069827:C:T | C357Y | 0.998 |
| 3:195069828:A:G | C357R | 0.998 |
| 3:195069838:G:C | N353K | 0.998 |
| 3:195069838:G:T | N353K | 0.998 |
| 3:195069903:C:G | D332H | 0.998 |
| 3:195156550:G:C | D228E | 0.998 |
| 3:195156550:G:T | D228E | 0.998 |
| 3:195156551:T:C | D228G | 0.998 |
| 3:195156551:T:G | D228A | 0.998 |
| 3:195156556:G:C | D226E | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000004223 (3:195227003 C>T), RS1000028339 (3:195224471 C>T), RS1000044717 (3:195104652 G>A,T), RS1000045725 (3:195232461 A>C), RS1000060523 (3:195111362 G>A,C), RS1000062257 (3:195143287 A>T), RS1000080844 (3:195256889 G>A), RS1000081522 (3:195183745 G>C), RS1000088511 (3:195137197 G>A), RS1000132057 (3:195108853 A>G), RS1000139379 (3:195259259 T>C,G), RS1000164084 (3:195237057 G>C), RS1000170228 (3:195179663 C>A,T), RS1000172248 (3:195259425 C>T), RS1000191476 (3:195148676 A>G)
Disease associations
OMIM: gene MIM:614552 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000815_3 | Non-small cell lung cancer | 2.000000e-08 |
| GCST002118_15 | Metabolite levels (Pyroglutamine) | 7.000000e-06 |
| GCST004267_3 | Blood osmolality (transformed sodium) | 3.000000e-06 |
| GCST006061_98 | Atrial fibrillation | 6.000000e-07 |
| GCST006414_83 | Atrial fibrillation | 2.000000e-08 |
| GCST006585_250 | Blood protein levels | 9.000000e-14 |
| GCST007401_12 | Factor VII activity | 5.000000e-07 |
| GCST008153_74 | Lean body mass | 2.000000e-06 |
| GCST010988_212 | Adult body size | 2.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005408 | pyroglutamine measurement |
| EFO:0004619 | factor VII measurement |
| EFO:0004995 | lean body mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Tobacco Smoke Pollution | decreases expression, increases methylation | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| urushiol | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Genistein | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.