NPL
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Also known as NPL1DHDPS1
Summary
NPL (N-acetylneuraminate pyruvate lyase, HGNC:16781) is a protein-coding gene on chromosome 1q25.3, encoding N-acetylneuraminate lyase (Q9BXD5). Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate.
This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Source: NCBI Gene 80896 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 58 total
- MANE Select transcript:
NM_030769
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16781 |
| Approved symbol | NPL |
| Name | N-acetylneuraminate pyruvate lyase |
| Location | 1q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NPL1, DHDPS1 |
| Ensembl gene | ENSG00000135838 |
| Ensembl biotype | protein_coding |
| OMIM | 611412 |
| Entrez | 80896 |
Gene structure
Transcript identifiers
Ensembl transcripts: 45 — 39 protein_coding, 6 protein_coding_CDS_not_defined
ENST00000258317, ENST00000367552, ENST00000367553, ENST00000367554, ENST00000367555, ENST00000460179, ENST00000460690, ENST00000463899, ENST00000471010, ENST00000479721, ENST00000488424, ENST00000614468, ENST00000879498, ENST00000879499, ENST00000879500, ENST00000879501, ENST00000879502, ENST00000879503, ENST00000879504, ENST00000879505, ENST00000879506, ENST00000879507, ENST00000879508, ENST00000879509, ENST00000879510, ENST00000879511, ENST00000879512, ENST00000879513, ENST00000879514, ENST00000879515, ENST00000879516, ENST00000879517, ENST00000879518, ENST00000879519, ENST00000913310, ENST00000949073, ENST00000949074, ENST00000949075, ENST00000949076, ENST00000949077, ENST00000949078, ENST00000949079, ENST00000949080, ENST00000949081, ENST00000949082
RefSeq mRNA: 5 — MANE Select: NM_030769
NM_001200050, NM_001200051, NM_001200052, NM_001200056, NM_030769
CCDS: CCDS1350, CCDS55666, CCDS55667, CCDS72990
Canonical transcript exons
ENST00000367553 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001445014 | 182792232 | 182792286 |
| ENSE00001926869 | 182789773 | 182789805 |
| ENSE00002297266 | 182828724 | 182830384 |
| ENSE00003460025 | 182825781 | 182825820 |
| ENSE00003466245 | 182816714 | 182816806 |
| ENSE00003535241 | 182803698 | 182803771 |
| ENSE00003554575 | 182806145 | 182806232 |
| ENSE00003567390 | 182818541 | 182818689 |
| ENSE00003570256 | 182812156 | 182812213 |
| ENSE00003615333 | 182818813 | 182818859 |
| ENSE00003630071 | 182814783 | 182814858 |
| ENSE00003634847 | 182794356 | 182794439 |
| ENSE00003665852 | 182822115 | 182822199 |
Expression profiles
Bgee: expression breadth ubiquitous, 244 present calls, max score 97.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.1140 / max 1758.7315, expressed in 1262 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 7045 | 29.1140 | 1262 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.87 | gold quality |
| mononuclear cell | CL:0000842 | 97.26 | gold quality |
| leukocyte | CL:0000738 | 96.95 | gold quality |
| blood | UBERON:0000178 | 95.73 | gold quality |
| granulocyte | CL:0000094 | 91.67 | gold quality |
| spleen | UBERON:0002106 | 91.60 | gold quality |
| sperm | CL:0000019 | 89.82 | silver quality |
| gall bladder | UBERON:0002110 | 88.70 | gold quality |
| right lung | UBERON:0002167 | 88.52 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.26 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 88.13 | gold quality |
| secondary oocyte | CL:0000655 | 88.08 | gold quality |
| lymph node | UBERON:0000029 | 87.89 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.82 | silver quality |
| nephron tubule | UBERON:0001231 | 87.38 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 87.18 | gold quality |
| bone marrow | UBERON:0002371 | 87.15 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 87.10 | gold quality |
| caudate nucleus | UBERON:0001873 | 87.04 | gold quality |
| upper leg skin | UBERON:0004262 | 86.88 | gold quality |
| superficial temporal artery | UBERON:0001614 | 86.86 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 86.77 | gold quality |
| placenta | UBERON:0001987 | 86.76 | gold quality |
| upper lobe of lung | UBERON:0008948 | 86.75 | gold quality |
| male germ cell | CL:0000015 | 86.40 | silver quality |
| spinal cord | UBERON:0002240 | 86.22 | gold quality |
| visceral pleura | UBERON:0002401 | 86.05 | gold quality |
| gingiva | UBERON:0001828 | 85.91 | silver quality |
| parietal pleura | UBERON:0002400 | 85.53 | gold quality |
| lower lobe of lung | UBERON:0008949 | 85.41 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 55.08 |
| E-MTAB-6678 | yes | 39.45 |
| E-HCAD-25 | yes | 24.66 |
| E-CURD-112 | yes | 14.95 |
| E-MTAB-9388 | yes | 7.76 |
| E-HCAD-10 | no | 2.12 |
| E-MTAB-9467 | no | 0.91 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
87 targeting NPL, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
Literature-anchored findings (GeneRIF, showing 2)
- an NPL splice variant is mainly expressed in human liver, kidney and peripheral blood leukocytes (PMID:16147865)
- 3D structure model of N-acetylneuraminate lyase from human (hNAL, EC 4.1.3.3) was created and refined (PMID:19057931)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | npl | ENSDARG00000009390 |
| mus_musculus | Npl | ENSMUSG00000042684 |
| rattus_norvegicus | Npl | ENSRNOG00000002775 |
Paralogs (1): HOGA1 (ENSG00000241935)
Protein
Protein identifiers
N-acetylneuraminate lyase — Q9BXD5 (reviewed: Q9BXD5)
Alternative names: N-acetylneuraminate pyruvate-lyase, N-acetylneuraminic acid aldolase, Sialate lyase, Sialate-pyruvate lyase, Sialic acid aldolase, Sialic acid lyase
All UniProt accessions (2): A0A087WZ70, Q9BXD5
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.
Subunit / interactions. Homotetramer.
Subcellular location. Cytoplasm.
Tissue specificity. Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small intestine and peripheral blood leukocyte.
Pathway. Amino-sugar metabolism; N-acetylneuraminate degradation.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the DapA family. NanA subfamily.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BXD5-1 | 1 | yes |
| Q9BXD5-2 | 2 | |
| Q9BXD5-3 | 3 | |
| Q9BXD5-4 | 4 | |
| Q9BXD5-5 | 5 |
RefSeq proteins (5): NP_001186979, NP_001186980, NP_001186981, NP_001186985, NP_110396* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002220 | DapA-like | Family |
| IPR005264 | NanA | Family |
| IPR013785 | Aldolase_TIM | Homologous_superfamily |
Pfam: PF00701
Enzyme classification (BRENDA):
- EC 4.1.3.3 — N-acetylneuraminate lyase (BRENDA: 30 organisms, 144 substrates, 77 inhibitors, 161 Km, 114 kcat entries)
Substrate kinetics (BRENDA)
21 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| N-ACETYLNEURAMINIC ACID | 0.4–1100 | 34 |
| N-ACETYLNEURAMINATE | 0.013–87.7 | 30 |
| N-ACETYL-D-MANNOSAMINE | 6.9–3200 | 15 |
| N-ACETYL-D-NEURAMINIC ACID | 2.1–59.5 | 14 |
| PYRUVATE | 0.5–72.4 | 13 |
| (5R,6R)-7-(DIPROPYLAMINO)-4,5,6-TRIHYDROXY-2,7-D | 0.2–11 | 10 |
| (2S,4S,5R,6R)-5-(ACETYLAMINO)-6-[(DIPROPYLAMINO) | 0.35–10.6 | 6 |
| D-3-DEOXY-MANNO-2-OCTULOSONIC ACID | 3.5–14.5 | 6 |
| L-3-DEOXY-MANNO-2-OCTULOSONIC ACID | 2.4–14.1 | 6 |
| N-ACETYL-L-NEURAMINIC ACID | 4.4–369.4 | 4 |
| N-GLYCOLYLNEURAMINIC ACID | 2.2–4.6 | 4 |
| (2R,3R,4R)-6-[(AMINOOXY)CARBONYL]-3,4,6-TRIHYDRO | 0.39–11 | 2 |
| SIALIC ACID | 4.4–38 | 2 |
| N-ACETYL-4-O-ACETYLNEURAMINIC ACID | 12.5 | 1 |
| N-ACETYL-7-O-ACETYLNEURAMINIC ACID | 4.5 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- aceneuramate = aldehydo-N-acetyl-D-mannosamine + pyruvate (RHEA:23296)
UniProt features (46 total): helix 16, strand 9, binding site 7, splice variant 5, sequence conflict 4, active site 2, turn 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6ARH | X-RAY DIFFRACTION | 1.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXD5-F1 | 93.61 | 0.90 |
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 (2): 143 (proton donor); 173 (schiff-base intermediate with substrate)
Ligand- & substrate-binding residues (7): 51; 52; 175; 199; 201; 202; 218
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-4085001 | Sialic acid metabolism |
MSigDB gene sets: 224 (showing top):
MODULE_418, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, ADDYA_ERYTHROID_DIFFERENTIATION_BY_HEMIN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_AMINO_SUGAR_CATABOLIC_PROCESS, GOBP_AMINO_SUGAR_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GATA1_03, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BROWN_MYELOID_CELL_DEVELOPMENT_DN
GO Biological Process (2): carbohydrate metabolic process (GO:0005975), N-acetylneuraminate catabolic process (GO:0019262)
GO Molecular Function (4): N-acetylneuraminate lyase activity (GO:0008747), identical protein binding (GO:0042802), protein binding (GO:0005515), lyase activity (GO:0016829)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Synthesis of substrates in N-glycan biosythesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| primary metabolic process | 1 |
| N-acetylneuraminate metabolic process | 1 |
| amino sugar catabolic process | 1 |
| carboxylic acid catabolic process | 1 |
| oxo-acid-lyase activity | 1 |
| protein binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1362 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NPL | CMAS | Q8NFW8 | 524 |
| NPL | ACR | P10323 | 480 |
| NPL | GNE | Q9Y223 | 465 |
| NPL | NANP | Q8TBE9 | 456 |
| NPL | NANS | Q9NR45 | 445 |
| NPL | ST8SIA5 | O15466 | 445 |
| NPL | ZBTB8B | Q8NAP8 | 418 |
| NPL | PRAP1 | Q96NZ9 | 405 |
| NPL | SLC35A1 | P78382 | 399 |
| NPL | SLC17A5 | Q9NRA2 | 372 |
| NPL | NEU1 | Q99519 | 362 |
| NPL | RENBP | P51606 | 356 |
| NPL | MBOAT1 | Q6ZNC8 | 355 |
| NPL | POLN | Q7Z5Q5 | 355 |
| NPL | PRKRIP1 | Q9H875 | 355 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NPL | NPL | psi-mi:“MI:0915”(physical association) | 0.670 |
| NPL | NTAQ1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NTAQ1 | NPL | psi-mi:“MI:0915”(physical association) | 0.560 |
| NPL | PEG10 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NPL | CFAP418 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NPL | ODR4 | psi-mi:“MI:0914”(association) | 0.350 |
| NPL | NPL | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): NPL (Two-hybrid), NPL (Two-hybrid), PEG10 (Affinity Capture-MS), QPRT (Affinity Capture-MS), NPL (Proximity Label-MS), NPL (Two-hybrid), PEG10 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), C1orf27 (Affinity Capture-MS), NPL (Proximity Label-MS), NPL (Proximity Label-MS), NPL (Proximity Label-MS), APP (Reconstituted Complex)
ESM2 similar proteins: A4IT57, A8NEP3, B0B8N1, B0BAB0, B0BBG3, B0SBH6, B0SJ25, B3EK39, B4GP48, B4S3A5, G5EDZ2, O13831, O34873, P00480, P0CD74, P16578, P54724, Q11185, Q1RMS2, Q254V9, Q25566, Q29BL3, Q29RY9, Q3B8E8, Q3KL39, Q5F3Z1, Q5L789, Q5M8W9, Q5M905, Q5RDY1, Q5XGL6, Q5XGL8, Q5ZKD4, Q66H59, Q6MD01, Q6MEB3, Q6NY77, Q6NYR8, Q7SZS2, Q822T2
Diamond homologs: A1AGB9, A1ATI8, A3N352, A4WF38, A5GD89, A5IPI2, A6QDU7, A6TY99, A7B555, A7WXZ2, A7Z4U8, A7ZSB8, A8A535, A8AQB6, A8YZD9, A9MNY6, A9N833, B0BSI2, B0R3D6, B0UTI7, B1IQQ4, B1LGJ0, B1XHJ8, B2U1V9, B3E936, B3EMS4, B3GZ05, B3QUT2, B4T750, B4TJR3, B4TWJ0, B5BGP5, B5EGX4, B5F7J9, B5FIR8, B5R0L2, B5RET7, B5YSV2, B6I1U3, B7LHT3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2096 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:182803686:C:G | acceptor_gain | 1.0000 |
| 1:182803687:A:AG | acceptor_gain | 1.0000 |
| 1:182803688:T:G | acceptor_gain | 1.0000 |
| 1:182803696:A:AG | acceptor_gain | 1.0000 |
| 1:182803697:G:GG | acceptor_gain | 1.0000 |
| 1:182803697:GA:G | acceptor_gain | 1.0000 |
| 1:182814778:TAAA:T | acceptor_loss | 1.0000 |
| 1:182814779:A:AG | acceptor_gain | 1.0000 |
| 1:182814779:AAAG:A | acceptor_gain | 1.0000 |
| 1:182814780:A:G | acceptor_gain | 1.0000 |
| 1:182814781:A:AG | acceptor_gain | 1.0000 |
| 1:182814782:G:GG | acceptor_gain | 1.0000 |
| 1:182814782:GGCCC:G | acceptor_gain | 1.0000 |
| 1:182814856:AAG:A | donor_gain | 1.0000 |
| 1:182814856:AAGGT:A | donor_loss | 1.0000 |
| 1:182814857:AG:A | donor_gain | 1.0000 |
| 1:182814857:AGGTA:A | donor_loss | 1.0000 |
| 1:182814858:GG:G | donor_gain | 1.0000 |
| 1:182814858:GGTA:G | donor_loss | 1.0000 |
| 1:182814859:G:GA | donor_loss | 1.0000 |
| 1:182814859:G:GG | donor_gain | 1.0000 |
| 1:182816803:AAGAG:A | donor_loss | 1.0000 |
| 1:182816804:AGA:A | donor_gain | 1.0000 |
| 1:182816805:GA:G | donor_gain | 1.0000 |
| 1:182816805:GAG:G | donor_gain | 1.0000 |
| 1:182816806:AGTA:A | donor_loss | 1.0000 |
| 1:182816807:G:GG | donor_gain | 1.0000 |
| 1:182816808:T:A | donor_loss | 1.0000 |
| 1:182818787:A:G | acceptor_gain | 1.0000 |
| 1:182825779:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
2097 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:182806210:T:A | W70R | 0.997 |
| 1:182806210:T:C | W70R | 0.997 |
| 1:182818603:T:C | F174L | 0.997 |
| 1:182818605:C:A | F174L | 0.997 |
| 1:182818605:C:G | F174L | 0.997 |
| 1:182818606:A:C | S175R | 0.997 |
| 1:182818608:T:A | S175R | 0.997 |
| 1:182818608:T:G | S175R | 0.997 |
| 1:182822124:C:A | N221K | 0.997 |
| 1:182822124:C:G | N221K | 0.997 |
| 1:182828746:A:C | K267N | 0.997 |
| 1:182828746:A:T | K267N | 0.997 |
| 1:182806190:G:C | R63P | 0.996 |
| 1:182818602:A:C | K173N | 0.995 |
| 1:182818602:A:T | K173N | 0.995 |
| 1:182818685:A:T | D201V | 0.995 |
| 1:182828745:A:T | K267I | 0.995 |
| 1:182818858:A:C | S218R | 0.994 |
| 1:182822115:T:A | S218R | 0.994 |
| 1:182822115:T:G | S218R | 0.994 |
| 1:182794412:C:A | A14E | 0.993 |
| 1:182806201:G:C | A67P | 0.993 |
| 1:182814792:G:C | A100P | 0.993 |
| 1:182818684:G:C | D201H | 0.993 |
| 1:182818685:A:C | D201A | 0.993 |
| 1:182818856:G:A | G217D | 0.993 |
| 1:182806145:T:A | V48E | 0.992 |
| 1:182806189:C:A | R63S | 0.992 |
| 1:182814819:G:C | A109P | 0.992 |
| 1:182818679:G:A | G199E | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000032560 (1:182798405 T>G), RS1000082819 (1:182807604 T>A,C), RS1000112665 (1:182791158 T>C), RS1000162585 (1:182788756 T>C), RS1000176560 (1:182791978 T>C), RS1000215918 (1:182788214 C>A), RS1000490152 (1:182795020 T>C), RS1000531507 (1:182826852 C>T), RS1000575940 (1:182820483 G>C,T), RS1000633234 (1:182799859 G>A), RS1000684806 (1:182827837 A>C), RS1000705448 (1:182814228 C>G), RS1000721914 (1:182806522 G>A), RS1000881048 (1:182799880 C>A,T), RS1001076226 (1:182820659 T>C)
Disease associations
OMIM: gene MIM:611412 | 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 |
|---|---|---|
| GCST004403_7 | Bone fracture in osteoporosis | 7.000000e-06 |
| GCST007565_110 | Morning person | 1.000000e-28 |
| GCST012020_241 | Serum metabolite levels | 2.000000e-18 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| Endosulfan | decreases expression | 3 |
| bisphenol A | increases methylation, decreases expression, decreases methylation | 2 |
| Cyclosporine | increases expression, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression | 2 |
| 2,4,6-tribromophenol | increases expression | 1 |
| bufotalin | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| sodium bichromate | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| pentanal | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Temozolomide | affects response to substance | 1 |
| Sunitinib | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TA92 | HAP1 NPL (-) 1 | Cancer cell line | Male |
| CVCL_XR05 | HAP1 NPL (-) 2 | Cancer cell line | Male |
| CVCL_XR06 | HAP1 NPL (-) 3 | 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): bone fracture