UCK1
gene geneOn this page
Also known as URK1FLJ12255
Summary
UCK1 (uridine-cytidine kinase 1, HGNC:14859) is a protein-coding gene on chromosome 9q34.13, encoding Uridine-cytidine kinase 1 (Q9HA47). Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate.
This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms.
Source: NCBI Gene 83549 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 31 total
- Druggable target: yes
- MANE Select transcript:
NM_031432
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14859 |
| Approved symbol | UCK1 |
| Name | uridine-cytidine kinase 1 |
| Location | 9q34.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | URK1, FLJ12255 |
| Ensembl gene | ENSG00000130717 |
| Ensembl biotype | protein_coding |
| OMIM | 609328 |
| Entrez | 83549 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 10 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000372208, ENST00000372210, ENST00000372211, ENST00000372215, ENST00000459858, ENST00000482398, ENST00000484876, ENST00000491309, ENST00000494584, ENST00000851811, ENST00000851812, ENST00000851813, ENST00000851814, ENST00000851815, ENST00000936882
RefSeq mRNA: 5 — MANE Select: NM_031432
NM_001135954, NM_001261450, NM_001261451, NM_001318519, NM_031432
CCDS: CCDS48046, CCDS59151, CCDS59152, CCDS6944
Canonical transcript exons
ENST00000372215 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001945595 | 131531067 | 131531263 |
| ENSE00003461588 | 131525929 | 131525977 |
| ENSE00003527707 | 131529128 | 131529270 |
| ENSE00003550425 | 131530486 | 131530645 |
| ENSE00003590939 | 131528944 | 131529038 |
| ENSE00003614725 | 131529488 | 131529584 |
| ENSE00003634270 | 131523801 | 131525221 |
Expression profiles
Bgee: expression breadth ubiquitous, 234 present calls, max score 95.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6509 / max 169.7466, expressed in 1783 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102836 | 6.6344 | 1761 |
| 102835 | 2.0165 | 1041 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 95.08 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 94.93 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.90 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.87 | gold quality |
| cerebellum | UBERON:0002037 | 94.26 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.14 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.17 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.08 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.65 | gold quality |
| apex of heart | UBERON:0002098 | 92.61 | gold quality |
| amygdala | UBERON:0001876 | 92.55 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.40 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.35 | gold quality |
| ileal mucosa | UBERON:0000331 | 92.31 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.27 | gold quality |
| lower esophagus | UBERON:0013473 | 92.26 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.23 | gold quality |
| putamen | UBERON:0001874 | 92.20 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.03 | gold quality |
| muscle of leg | UBERON:0001383 | 92.00 | gold quality |
| spinal cord | UBERON:0002240 | 92.00 | gold quality |
| hypothalamus | UBERON:0001898 | 91.95 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.69 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.58 | gold quality |
| caudate nucleus | UBERON:0001873 | 91.40 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 91.31 | gold quality |
| cerebellar vermis | UBERON:0004720 | 91.28 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.06 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.06 | gold quality |
| body of pancreas | UBERON:0001150 | 90.97 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting UCK1, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-18A-3P | 99.56 | 65.68 | 1092 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-548B-3P | 99.38 | 67.26 | 1000 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-5190 | 99.15 | 67.76 | 1234 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-628-5P | 98.36 | 67.74 | 844 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-4691-3P | 98.11 | 66.83 | 1204 |
| HSA-MIR-4469 | 97.93 | 65.81 | 1319 |
| HSA-MIR-4494 | 97.86 | 64.93 | 850 |
| HSA-MIR-194-3P | 97.36 | 65.96 | 1027 |
Literature-anchored findings (GeneRIF, showing 4)
- ribavirin is a potential substrate of UCK-1, and RMP formed could be chemically coupled to AsOR to form a conjugate for liver specific targeting. (PMID:18080217)
- Results from a study on gene expression variability markers in early-stage human embryos shows that UCK1 is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
- Knockdown of endogenous UCK2 as well as overexpression of UCK1 resulted in decreased metabolism of uridine and cytidine and protected neuroblastoma cells from 3-deazauridine-induced toxicity. Subcellular localization studies showed that UCK1-GFP and UCK2-GFP were localized in the cell nucleus and cytosol, respectively. (PMID:27239701)
- UCK1 and 2 are both expressed in several neuroblastoma cell lines, including four MYCN single copy cell lines and five MYCN amplified cell lines (PMID:27906629)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | uck1 | ENSDARG00000022218 |
| mus_musculus | Uck1 | ENSMUSG00000002550 |
| rattus_norvegicus | Uck1 | ENSRNOG00000011467 |
| drosophila_melanogaster | Uck | FBGN0263398 |
| caenorhabditis_elegans | WBGENE00007089 |
Paralogs (3): UPRT (ENSG00000094841), UCK2 (ENSG00000143179), UCKL1 (ENSG00000198276)
Protein
Protein identifiers
Uridine-cytidine kinase 1 — Q9HA47 (reviewed: Q9HA47)
Alternative names: Cytidine monophosphokinase 1, Uridine monophosphokinase 1
All UniProt accessions (3): Q9HA47, A0A024R8E7, G3V170
UniProt curated annotations — full annotation on UniProt →
Function. Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine.
Tissue specificity. Ubiquitous.
Pathway. Pyrimidine metabolism; CTP biosynthesis via salvage pathway; CTP from cytidine: step 1/3. Pyrimidine metabolism; UMP biosynthesis via salvage pathway; UMP from uridine: step 1/1.
Similarity. Belongs to the uridine kinase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HA47-1 | 1 | yes |
| Q9HA47-2 | 2 | |
| Q9HA47-3 | 3 | |
| Q9HA47-4 | 4 |
RefSeq proteins (5): NP_001129426, NP_001248379, NP_001248380, NP_001305448, NP_113620* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000764 | Uridine_kinase-like | Family |
| IPR006083 | PRK/URK | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00485
Enzyme classification (BRENDA):
- EC 2.7.1.48 — uridine/cytidine kinase (BRENDA: 11 organisms, 140 substrates, 53 inhibitors, 88 Km, 32 kcat entries)
Substrate kinetics (BRENDA)
7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| CYTIDINE | 0.023–4 | 38 |
| URIDINE | 0.04–11.5 | 31 |
| ATP | 0.062–5 | 10 |
| 5-FLUOROURIDINE | 0.03–0.069 | 2 |
| 3-DEAZAURIDINE | 0.2 | 1 |
| 5-AZACYTIDINE | 11 | 1 |
| 6-AZAURIDINE | 0.34 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- uridine + ATP = UMP + ADP + H(+) (RHEA:16825)
- cytidine + ATP = CMP + ADP + H(+) (RHEA:24674)
UniProt features (45 total): helix 13, binding site 8, strand 7, sequence conflict 5, splice variant 3, region of interest 2, modified residue 2, turn 2, chain 1, compositionally biased region 1, active site 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9SGF | X-RAY DIFFRACTION | 2.18 |
| 9SGG | X-RAY DIFFRACTION | 2.4 |
| 2JEO | X-RAY DIFFRACTION | 2.5 |
| 2UVQ | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HA47-F1 | 84.13 | 0.74 |
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 (1): 65
Ligand- & substrate-binding residues (8): 178; 186; 215; 30–38; 87; 115; 120; 169
Post-translational modifications (2): 251, 253
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-73614 | Pyrimidine salvage |
MSigDB gene sets: 135 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, GOBP_PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, LANDIS_ERBB2_BREAST_PRENEOPLASTIC_DN, GOBP_PYRIMIDINE_CONTAINING_COMPOUND_SALVAGE
GO Biological Process (4): UMP salvage (GO:0044206), CTP salvage (GO:0044211), CMP biosynthetic process (GO:0009224), nucleobase-containing small molecule metabolic process (GO:0055086)
GO Molecular Function (7): uridine kinase activity (GO:0004849), ATP binding (GO:0005524), cytidine kinase activity (GO:0043771), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Nucleotide salvage | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| UMP biosynthetic process | 2 |
| pyrimidine ribonucleotide salvage | 2 |
| nucleoside kinase activity | 2 |
| cellular anatomical structure | 2 |
| CTP biosynthetic process | 1 |
| pyrimidine ribonucleoside monophosphate biosynthetic process | 1 |
| pyrimidine ribonucleotide biosynthetic process | 1 |
| CMP metabolic process | 1 |
| nucleobase-containing compound metabolic process | 1 |
| small molecule metabolic process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| CMP biosynthetic process | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1834 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UCK1 | UPP2 | O95045 | 834 |
| UCK1 | UMPS | P11172 | 811 |
| UCK1 | UPP1 | Q16831 | 808 |
| UCK1 | UPRT | Q96BW1 | 714 |
| UCK1 | TYMP | P19971 | 644 |
| UCK1 | TK2 | O00142 | 629 |
| UCK1 | CMPK1 | P30085 | 611 |
| UCK1 | DCK | P27707 | 610 |
| UCK1 | DPYD | Q12882 | 590 |
| UCK1 | CDA | P32320 | 579 |
| UCK1 | TYMS | P04818 | 565 |
| UCK1 | UPB1 | Q9UBR1 | 562 |
| UCK1 | DTYMK | P23919 | 504 |
| UCK1 | CTPS2 | Q9NRF8 | 500 |
| UCK1 | DCTD | P32321 | 497 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MPPED1 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| UCK1 | UCK1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| UPRT | SERPINB4 | psi-mi:“MI:0914”(association) | 0.530 |
| UCK2 | IAH1 | psi-mi:“MI:0914”(association) | 0.530 |
| UPRT | UCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| PLA2G12A | UCK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KLHL2 | DCTN6 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| UCK2 | DCAF6 | psi-mi:“MI:0914”(association) | 0.350 |
| UCK1 | ezrA | psi-mi:“MI:0915”(physical association) | 0.000 |
| UCK1 | UCK1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (40): UCK1 (Affinity Capture-MS), UCK1 (Affinity Capture-MS), UCK1 (Co-fractionation), UCK1 (Affinity Capture-MS), UCK1 (Affinity Capture-MS), UCK1 (Affinity Capture-MS), UCK1 (Affinity Capture-MS), UCK1 (Two-hybrid), UCK1 (Two-hybrid), UCK1 (Proximity Label-MS), PGK1 (Affinity Capture-MS), UCK1 (Affinity Capture-MS), KLHL2 (Affinity Capture-MS), UCK2 (Affinity Capture-MS), PLA2G12A (Affinity Capture-MS)
ESM2 similar proteins: A4IFD0, A4IG62, A7GT59, B1H116, B5FG51, C0ZAS6, O00763, O23617, P16118, P32232, P49872, P52623, P70266, Q0P5A4, Q13057, Q4R4K2, Q5E3Z9, Q5EBA1, Q5R9C1, Q5T6J7, Q5VV42, Q66I71, Q6AY55, Q6GPD9, Q6P4Y0, Q6PA79, Q7L5N7, Q7SYM0, Q7ZV79, Q80YD1, Q8IYB8, Q8MIR4, Q8T154, Q8WV93, Q91309, Q91348, Q91WE6, Q91YL3, Q920P5, Q99PM9
Diamond homologs: A0Q140, A2RDZ9, A2RJB4, A4IR72, A5ITD6, A5VKU8, A6QHF2, A6TR08, A6U280, A7GGE1, A7GT59, A7X320, A7Z727, A8AWT2, A8FFL8, A8YU29, A8Z4E9, A9WCC8, B1H116, B1IJ68, B1KXA7, B1MXP1, B2G882, B4U220, B5XM21, B7GIU0, B8G8N0, B9DNJ4, B9DSN2, B9E6Y9, B9LED5, C0M9M0, C0MCM8, C0ZAS6, C1FSX6, C3L140, C5D4Y5, O32033, O65583, O74427
SIGNOR signaling
11 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UCK1 | “down-regulates quantity” | ATP(4-) | “chemical modification” |
| UCK1 | “up-regulates quantity” | ADP(3-) | “chemical modification” |
| UCK1 | “down-regulates quantity” | cytidine | “chemical modification” |
| UCK1 | “up-regulates quantity” | “cytidine 5’-monophosphate(2-)” | “chemical modification” |
| UCK1 | “down-regulates quantity” | uridine | “chemical modification” |
| UCK1 | “up-regulates quantity” | “uridine 5’-monophosphate(2-)” | “chemical modification” |
| USP28 | “up-regulates quantity by stabilization” | UCK1 | deubiquitination |
| KLHL2 | “down-regulates quantity by destabilization” | UCK1 | ubiquitination |
| ATM | “down-regulates quantity by destabilization” | UCK1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1218 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:131525218:GCAA:G | acceptor_gain | 1.0000 |
| 9:131525219:CAA:C | acceptor_gain | 1.0000 |
| 9:131525219:CAAC:C | acceptor_gain | 1.0000 |
| 9:131525221:AC:A | acceptor_loss | 1.0000 |
| 9:131525222:C:CC | acceptor_gain | 1.0000 |
| 9:131525222:CTG:C | acceptor_loss | 1.0000 |
| 9:131525228:C:CT | acceptor_gain | 1.0000 |
| 9:131525229:A:T | acceptor_gain | 1.0000 |
| 9:131525923:TCTTA:T | donor_loss | 1.0000 |
| 9:131525924:CTTA:C | donor_loss | 1.0000 |
| 9:131525925:TTACC:T | donor_loss | 1.0000 |
| 9:131525926:TACCC:T | donor_loss | 1.0000 |
| 9:131525927:A:AC | donor_gain | 1.0000 |
| 9:131525927:AC:A | donor_gain | 1.0000 |
| 9:131525928:C:CC | donor_gain | 1.0000 |
| 9:131525928:CC:C | donor_gain | 1.0000 |
| 9:131525978:C:CC | acceptor_gain | 1.0000 |
| 9:131529039:C:CC | acceptor_gain | 1.0000 |
| 9:131529122:CCTTA:C | donor_loss | 1.0000 |
| 9:131529123:CTTA:C | donor_loss | 1.0000 |
| 9:131529124:TTAC:T | donor_loss | 1.0000 |
| 9:131529125:TA:T | donor_loss | 1.0000 |
| 9:131529126:A:T | donor_loss | 1.0000 |
| 9:131529127:C:CG | donor_loss | 1.0000 |
| 9:131529127:CCT:C | donor_gain | 1.0000 |
| 9:131529271:C:CC | acceptor_gain | 1.0000 |
| 9:131529271:CTGAG:C | acceptor_loss | 1.0000 |
| 9:131529272:T:G | acceptor_loss | 1.0000 |
| 9:131529279:C:CT | acceptor_gain | 1.0000 |
| 9:131529485:TA:T | donor_loss | 1.0000 |
AlphaMissense
1816 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:131525209:A:G | L222P | 1.000 |
| 9:131525218:G:T | A219D | 1.000 |
| 9:131525933:A:C | N216K | 1.000 |
| 9:131525933:A:T | N216K | 1.000 |
| 9:131525949:G:T | P211Q | 1.000 |
| 9:131525952:A:G | I210T | 1.000 |
| 9:131525952:A:T | I210N | 1.000 |
| 9:131525964:G:T | A206D | 1.000 |
| 9:131525972:C:A | K203N | 1.000 |
| 9:131525972:C:G | K203N | 1.000 |
| 9:131528953:G:C | F198L | 1.000 |
| 9:131528953:G:T | F198L | 1.000 |
| 9:131528955:A:G | F198L | 1.000 |
| 9:131528962:G:C | F195L | 1.000 |
| 9:131528962:G:T | F195L | 1.000 |
| 9:131528964:A:G | F195L | 1.000 |
| 9:131528971:C:A | K192N | 1.000 |
| 9:131528971:C:G | K192N | 1.000 |
| 9:131528996:A:G | L184P | 1.000 |
| 9:131529133:C:G | R168P | 1.000 |
| 9:131529139:A:G | L166P | 1.000 |
| 9:131529149:C:A | D163Y | 1.000 |
| 9:131529149:C:G | D163H | 1.000 |
| 9:131529165:G:C | F157L | 1.000 |
| 9:131529165:G:T | F157L | 1.000 |
| 9:131529167:A:G | F157L | 1.000 |
| 9:131529220:C:A | G139V | 1.000 |
| 9:131529221:C:A | G139C | 1.000 |
| 9:131529221:C:G | G139R | 1.000 |
| 9:131530494:T:A | D87V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000387978 (9:131528852 C>T), RS1000602001 (9:131525571 C>G), RS1000716511 (9:131530697 G>A), RS1000911274 (9:131525829 C>G,T), RS1000918219 (9:131532442 T>G), RS1001118132 (9:131529994 G>A), RS1001481120 (9:131532203 G>A), RS1001861921 (9:131528707 C>T), RS1002175780 (9:131530976 G>A,C,T), RS1003019925 (9:131527451 G>A), RS1003114842 (9:131527187 C>T), RS1003166623 (9:131532023 G>C,T), RS1003587558 (9:131531779 C>A,G,T), RS1003818865 (9:131525807 G>A), RS1004468909 (9:131528274 C>A)
Disease associations
OMIM: gene MIM:609328 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL3542438 (PROTEIN FAMILY), CHEMBL5682 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation, affects cotreatment | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| celastrol | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation, decreases methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Choline | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1064154 | Binding | Activity of cloned uridine-cytidine kinase 1 in human HuH7 cells up to 1 mM | The mechanism of action of beta-D-2’-deoxy-2’-fluoro-2’-C-methylcytidine involves a second metabolic pathway leading to beta-D-2’-deoxy-2’-fluoro-2’-C-methyluridine 5’-triphosphate, a potent inhibitor of the hepatitis C virus RNA-dependent RNA polymerase. — Antimicrob Agents Chemother |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3KR | Abcam HEK293T UCK1 KO | Transformed cell line | Female |
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.