NSMCE1
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Also known as NSE1
Summary
NSMCE1 (NSE1 component of SMC5/6 complex, HGNC:29897) is a protein-coding gene on chromosome 16p12.1, encoding Non-structural maintenance of chromosomes element 1 homolog (Q8WV22). RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. It is a selective cancer dependency (DepMap: 60.3% of cell lines).
Enables protein dimerization activity and ubiquitin protein ligase activity. Involved in DNA damage response. Located in nucleoplasm. Part of Smc5-Smc6 complex.
Source: NCBI Gene 197370 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 44 total
- Cancer dependency (DepMap): dependent in 60.3% of screened cell lines
- MANE Select transcript:
NM_145080
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29897 |
| Approved symbol | NSMCE1 |
| Name | NSE1 component of SMC5/6 complex |
| Location | 16p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NSE1 |
| Ensembl gene | ENSG00000169189 |
| Ensembl biotype | protein_coding |
| OMIM | 617263 |
| Entrez | 197370 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 22 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000361439, ENST00000561960, ENST00000562039, ENST00000563273, ENST00000563512, ENST00000563900, ENST00000564342, ENST00000565070, ENST00000565384, ENST00000565626, ENST00000566087, ENST00000567375, ENST00000567710, ENST00000569236, ENST00000869097, ENST00000869098, ENST00000869099, ENST00000869100, ENST00000869101, ENST00000869102, ENST00000869103, ENST00000869104, ENST00000869105, ENST00000933463, ENST00000933464, ENST00000933465, ENST00000933466, ENST00000961548, ENST00000961549, ENST00000961550
RefSeq mRNA: 1 — MANE Select: NM_145080
NM_145080
CCDS: CCDS10628
Canonical transcript exons
ENST00000361439 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002599713 | 27224994 | 27225236 |
| ENSE00002614980 | 27268706 | 27268772 |
| ENSE00003510237 | 27235178 | 27235299 |
| ENSE00003516553 | 27225726 | 27225846 |
| ENSE00003577604 | 27233001 | 27233147 |
| ENSE00003593819 | 27226720 | 27226836 |
| ENSE00003601687 | 27257435 | 27257581 |
| ENSE00003661547 | 27234188 | 27234265 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 96.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.5073 / max 509.6753, expressed in 1820 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156834 | 38.0879 | 1820 |
| 156824 | 0.3463 | 95 |
| 156825 | 0.0731 | 31 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 96.75 | gold quality |
| left testis | UBERON:0004533 | 96.74 | gold quality |
| kidney epithelium | UBERON:0004819 | 96.46 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.41 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.37 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.33 | gold quality |
| right coronary artery | UBERON:0001625 | 96.27 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.13 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.13 | gold quality |
| lower esophagus | UBERON:0013473 | 96.11 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.05 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.04 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.03 | gold quality |
| testis | UBERON:0000473 | 95.88 | gold quality |
| sperm | CL:0000019 | 95.79 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.74 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.68 | gold quality |
| popliteal artery | UBERON:0002250 | 95.57 | gold quality |
| tibial artery | UBERON:0007610 | 95.56 | gold quality |
| left coronary artery | UBERON:0001626 | 95.54 | gold quality |
| coronary artery | UBERON:0001621 | 95.52 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.40 | gold quality |
| ventricular zone | UBERON:0003053 | 95.37 | gold quality |
| aorta | UBERON:0000947 | 95.22 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.21 | gold quality |
| adrenal gland | UBERON:0002369 | 95.21 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.17 | gold quality |
| upper arm skin | UBERON:0004263 | 95.08 | gold quality |
| prostate gland | UBERON:0002367 | 95.06 | gold quality |
| spinal cord | UBERON:0002240 | 95.02 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 65.75 |
| E-MTAB-8410 | yes | 9.95 |
| E-MTAB-7606 | no | 553.61 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
6 targeting NSMCE1, 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-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-299-5P | 98.56 | 71.14 | 1140 |
| HSA-MIR-208A-3P | 95.87 | 66.51 | 397 |
| HSA-MIR-208B-3P | 95.87 | 66.56 | 396 |
| HSA-MIR-433-5P | 94.67 | 64.82 | 99 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 60.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Nse1 RING-like motif is a protein-protein interaction domain required for Smc5-Smc6 holocomplex integrity and recruitment to, or retention at, DNA lesions (PMID:18667531)
- Molecular Insights into the Architecture of the Human SMC5/6 Complex. (PMID:32389690)
- Crucial role of the NSE1 RING domain in Smc5/6 stability and FANCM-independent fork progression. (PMID:38847937)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nsmce1 | ENSDARG00000098780 |
| mus_musculus | Nsmce1 | ENSMUSG00000030750 |
| rattus_norvegicus | Nsmce1 | ENSRNOG00000015218 |
| drosophila_melanogaster | Nse1 | FBGN0031848 |
| caenorhabditis_elegans | nse-1 | WBGENE00020843 |
Protein
Protein identifiers
Non-structural maintenance of chromosomes element 1 homolog — Q8WV22 (reviewed: Q8WV22)
All UniProt accessions (7): Q8WV22, H3BN81, H3BR31, H3BR73, H3BSL0, H3BV05, I3L1I3
UniProt curated annotations — full annotation on UniProt →
Function. RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase complex, MAGE stimulates and specifies ubiquitin ligase activity likely through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. Involved in maintenance of genome integrity, DNA damage response and DNA repair. NSMCE3/MAGEG1 and NSMCE1 ubiquitin ligase are components of SMC5-SMC6 complex and may positively regulate homologous recombination-mediated DNA repair. MAGEF1-NSMCE1 ubiquitin ligase promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors.
Subunit / interactions. Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3. NSMCE1, NSMCE4A or EID3 and NSMCE3 probably form a subcomplex that bridges the head domains of the SMC5-SMC6 heterodimer. Interacts with NSMCE3. Interacts with MAGEF1.
Subcellular location. Nucleus. Chromosome. Telomere.
Post-translational modifications. Ubiquitinated.
Similarity. Belongs to the NSE1 family.
RefSeq proteins (1): NP_659547* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR002219 | PKC_DAG/PE | Domain |
| IPR011513 | Nse1 | Family |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR014857 | Nse1_RING_C4HC3-type | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
Pfam: PF07574, PF08746
UniProt features (34 total): helix 11, strand 10, turn 5, region of interest 2, sequence variant 2, chain 1, zinc finger region 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WY5 | X-RAY DIFFRACTION | 2.92 |
| 5HVQ | X-RAY DIFFRACTION | 2.92 |
| 9LWI | ELECTRON MICROSCOPY | 3.12 |
| 9LWJ | ELECTRON MICROSCOPY | 7.19 |
| 9LWL | ELECTRON MICROSCOPY | 7.25 |
| 2CT0 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WV22-F1 | 89.41 | 0.80 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 251
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins |
MSigDB gene sets: 186 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_CHROMOSOME_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_TELOMERE_ORGANIZATION, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_PROTEIN_SUMOYLATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_REGULATION_OF_CHROMOSOME_ORGANIZATION, GOBP_RECOMBINATIONAL_REPAIR, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, GOCC_SPINDLE
GO Biological Process (7): double-strand break repair via homologous recombination (GO:0000724), DNA damage response (GO:0006974), protein sumoylation (GO:0016925), regulation of telomere maintenance (GO:0032204), chromatin looping (GO:0140588), DNA repair (GO:0006281), DNA recombination (GO:0006310)
GO Molecular Function (7): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), protein dimerization activity (GO:0046983), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (7): chromosome, centromeric region (GO:0000775), chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), nucleoplasm (GO:0005654), Smc5-Smc6 complex (GO:0030915), mitotic spindle pole (GO:0097431), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| SUMO E3 ligases SUMOylate target proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 2 |
| chromosomal region | 2 |
| recombinational repair | 1 |
| double-strand break repair | 1 |
| cellular response to stress | 1 |
| peptidyl-lysine modification | 1 |
| protein modification by small protein conjugation | 1 |
| telomere maintenance | 1 |
| regulation of chromosome organization | 1 |
| regulation of DNA metabolic process | 1 |
| chromatin organization | 1 |
| DNA damage response | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| condensed chromosome | 1 |
| SUMO ligase complex | 1 |
| spindle pole | 1 |
| mitotic spindle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1068 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NSMCE1 | NSMCE4A | Q9NXX6 | 803 |
| NSMCE1 | NSMCE2 | Q96MF7 | 795 |
| NSMCE1 | SMC6 | Q96SB8 | 788 |
| NSMCE1 | NSMCE3 | Q96MG7 | 673 |
| NSMCE1 | SMC5 | Q8IY18 | 667 |
| NSMCE1 | SLF1 | Q9BQI6 | 593 |
| NSMCE1 | MAGEB18 | Q96M61 | 435 |
| NSMCE1 | DCAF1 | Q9Y4B6 | 433 |
| NSMCE1 | STYK1 | Q6J9G0 | 431 |
| NSMCE1 | SLF2 | Q8IX21 | 428 |
| NSMCE1 | RNF151 | Q2KHN1 | 396 |
| NSMCE1 | HLTF | Q14527 | 391 |
| NSMCE1 | STPG4 | Q8N801 | 391 |
| NSMCE1 | MAIP1 | Q8WWC4 | 389 |
| NSMCE1 | RNF168 | Q8IYW5 | 379 |
IntAct
59 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NSMCE3 | NSMCE1 | psi-mi:“MI:0915”(physical association) | 0.970 |
| NSMCE3 | NSMCE1 | psi-mi:“MI:0407”(direct interaction) | 0.970 |
| NSMCE1 | NSMCE3 | psi-mi:“MI:0407”(direct interaction) | 0.970 |
| NSMCE3 | NSMCE1 | psi-mi:“MI:0914”(association) | 0.970 |
| NSMCE1 | NSMCE3 | psi-mi:“MI:0915”(physical association) | 0.970 |
| NSMCE1 | NSMCE3 | psi-mi:“MI:0403”(colocalization) | 0.970 |
| SMC6 | SMC5 | psi-mi:“MI:0914”(association) | 0.860 |
| EID3 | NSMCE1 | psi-mi:“MI:0915”(physical association) | 0.830 |
| EID3 | NSMCE1 | psi-mi:“MI:0914”(association) | 0.830 |
| NSMCE3 | EID3 | psi-mi:“MI:0914”(association) | 0.820 |
| SMC6 | NSMCE1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| NSMCE1 | SMC6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| NSMCE1 | SMC5 | psi-mi:“MI:0914”(association) | 0.760 |
| NSMCE1 | SMC5 | psi-mi:“MI:0915”(physical association) | 0.760 |
| EID3 | SMC5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| NSMCE4A | NSMCE1 | psi-mi:“MI:0914”(association) | 0.740 |
| NSMCE1 | NSMCE2 | psi-mi:“MI:0914”(association) | 0.710 |
| NSMCE3 | PJA1 | psi-mi:“MI:0914”(association) | 0.710 |
| ZNF597 | TASOR2 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (125): SMC6 (Affinity Capture-MS), NSMCE2 (Affinity Capture-MS), NDNL2 (Affinity Capture-MS), SMC5 (Affinity Capture-MS), PMF1 (Affinity Capture-MS), SIMC1 (Affinity Capture-MS), FAM178A (Affinity Capture-MS), NSMCE4A (Affinity Capture-MS), NSMCE1 (Affinity Capture-MS), NSMCE1 (Affinity Capture-MS), NSMCE1 (Affinity Capture-MS), NDNL2 (Co-fractionation), NSMCE1 (Co-fractionation), SMC5 (Co-fractionation), SMC6 (Co-fractionation)
ESM2 similar proteins: O01757, O13873, O42857, O60072, O74462, O74967, O94553, O94663, P32910, P36617, P40555, P41810, P53914, P87157, P87303, P91529, Q02939, Q09760, Q10410, Q12483, Q19555, Q2TBL4, Q3T0X7, Q499U6, Q54NQ0, Q54S43, Q5RAZ5, Q6BGW8, Q6BZX4, Q6CLR2, Q6FM46, Q6FP41, Q6FWT4, Q75B51, Q84K16, Q86JM3, Q8WV22, Q9BUI4, Q9C106, Q9D483
Diamond homologs: Q3T0X7, Q499U6, Q53EK2, Q5RAZ5, Q6DGT7, Q6P881, Q6PAF4, Q8WV22, Q9D720, Q9VMA0
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | NSMCE1 | ubiquitination |
| NSMCE1 | “form complex” | SMC5/6 | binding |
| NSMCE3 | “up-regulates activity” | NSMCE1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| SUMOylation of DNA damage response and repair proteins | 8 | 50.9× | 3e-10 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of telomere maintenance | 6 | 168.5× | 8e-11 |
| protein sumoylation | 6 | 64.8× | 2e-08 |
| double-strand break repair via homologous recombination | 8 | 41.6× | 9e-10 |
| DNA damage response | 6 | 10.7× | 5e-04 |
| DNA repair | 5 | 10.6× | 2e-03 |
| protein ubiquitination | 5 | 6.9× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1799 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:27225724:A:AC | donor_gain | 1.0000 |
| 16:27225725:C:CC | donor_gain | 1.0000 |
| 16:27226832:TCCTT:T | acceptor_gain | 1.0000 |
| 16:27226833:CCTTC:C | acceptor_gain | 1.0000 |
| 16:27226834:CTT:C | acceptor_gain | 1.0000 |
| 16:27226836:TCTGC:T | acceptor_loss | 1.0000 |
| 16:27226837:C:CC | acceptor_gain | 1.0000 |
| 16:27226837:CTG:C | acceptor_loss | 1.0000 |
| 16:27232996:AGTAC:A | donor_loss | 1.0000 |
| 16:27232997:GTACC:G | donor_loss | 1.0000 |
| 16:27232998:TA:T | donor_loss | 1.0000 |
| 16:27232999:ACCTC:A | donor_loss | 1.0000 |
| 16:27233000:C:CG | donor_loss | 1.0000 |
| 16:27233050:T:TA | donor_gain | 1.0000 |
| 16:27233143:TCCAG:T | acceptor_gain | 1.0000 |
| 16:27233144:CCAG:C | acceptor_gain | 1.0000 |
| 16:27233144:CCAGC:C | acceptor_gain | 1.0000 |
| 16:27233145:CAG:C | acceptor_gain | 1.0000 |
| 16:27233145:CAGC:C | acceptor_gain | 1.0000 |
| 16:27233146:A:T | acceptor_gain | 1.0000 |
| 16:27233146:AG:A | acceptor_gain | 1.0000 |
| 16:27233147:GCTGG:G | acceptor_loss | 1.0000 |
| 16:27233148:C:CC | acceptor_gain | 1.0000 |
| 16:27233148:C:T | acceptor_loss | 1.0000 |
| 16:27234186:A:AC | donor_gain | 1.0000 |
| 16:27234186:ACAG:A | donor_gain | 1.0000 |
| 16:27234186:ACAGC:A | donor_gain | 1.0000 |
| 16:27234187:C:CC | donor_gain | 1.0000 |
| 16:27234187:CAG:C | donor_gain | 1.0000 |
| 16:27234187:CAGC:C | donor_gain | 1.0000 |
AlphaMissense
1778 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:27233008:A:G | L159P | 0.999 |
| 16:27225744:A:G | W235R | 0.998 |
| 16:27225744:A:T | W235R | 0.998 |
| 16:27225765:A:G | C228R | 0.998 |
| 16:27225804:A:G | C215R | 0.998 |
| 16:27226748:C:T | C191Y | 0.998 |
| 16:27226749:A:G | C191R | 0.998 |
| 16:27233012:A:G | W158R | 0.998 |
| 16:27233012:A:T | W158R | 0.998 |
| 16:27225837:A:G | C204R | 0.997 |
| 16:27226747:G:C | C191W | 0.997 |
| 16:27233098:A:T | I129K | 0.997 |
| 16:27257524:C:G | R16P | 0.997 |
| 16:27225742:C:A | W235C | 0.996 |
| 16:27225742:C:G | W235C | 0.996 |
| 16:27225764:C:G | C228S | 0.996 |
| 16:27225765:A:T | C228S | 0.996 |
| 16:27225802:G:C | C215W | 0.996 |
| 16:27225803:C:G | C215S | 0.996 |
| 16:27225804:A:T | C215S | 0.996 |
| 16:27225836:C:T | C204Y | 0.996 |
| 16:27233035:A:G | L150P | 0.996 |
| 16:27257515:A:G | L19P | 0.996 |
| 16:27225803:C:T | C215Y | 0.995 |
| 16:27226738:A:C | C194W | 0.995 |
| 16:27226748:C:A | C191F | 0.995 |
| 16:27226748:C:G | C191S | 0.995 |
| 16:27226749:A:T | C191S | 0.995 |
| 16:27233095:A:G | L130S | 0.995 |
| 16:27233098:A:C | I129R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000007600 (16:27268950 C>T), RS1000103418 (16:27269234 C>G), RS1000142522 (16:27270291 C>A,G,T), RS1000157953 (16:27243843 G>A,C), RS1000169719 (16:27235790 G>A), RS1000235931 (16:27233128 G>A), RS1000236847 (16:27262968 G>C), RS1000351822 (16:27264529 T>C), RS1000413472 (16:27227161 G>A), RS1000455992 (16:27231453 A>G), RS1000573565 (16:27262973 A>T), RS1000804461 (16:27255989 T>C,G), RS1000807504 (16:27237743 T>A,C), RS1000842789 (16:27238224 C>T), RS1000926019 (16:27243069 G>A)
Disease associations
OMIM: gene MIM:617263 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_67 | Night sleep phenotypes | 4.000000e-06 |
| GCST003875_18 | Gut microbiota (bacterial taxa) | 2.000000e-09 |
| GCST004482_117 | Peripheral arterial disease (traffic-related air pollution interaction) | 4.000000e-08 |
| GCST007732_9 | Allergic disease (asthma, hay fever or eczema) | 5.000000e-06 |
| GCST007941_30 | Medication use (adrenergics, inhalants) | 3.000000e-08 |
| GCST008916_121 | Asthma | 2.000000e-17 |
| GCST008916_3 | Asthma | 1.000000e-12 |
| GCST009798_29 | Asthma | 3.000000e-08 |
| GCST009798_58 | Asthma | 3.000000e-09 |
| GCST009798_64 | Asthma | 4.000000e-17 |
| GCST009798_67 | Asthma | 5.000000e-11 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007827 | nighttime rest measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0007883 | taxonomic microbiome measurement |
| EFO:0007908 | traffic air pollution measurement |
| EFO:0009941 | Inhalant adrenergic use measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| bufotalin | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| CPG-oligonucleotide | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 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 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Urethane | decreases expression | 1 |
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): peripheral arterial disease