NSUN5
gene geneOn this page
Also known as NOL1Rp120(NOL1)FLJ10267NSUN5AYnl022cL
Summary
NSUN5 (NOP2/Sun RNA methyltransferase 5, HGNC:16385) is a protein-coding gene on chromosome 7q11.23, encoding 28S rRNA (cytosine-C(5))-methyltransferase (Q96P11). S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA. m5C3782 promotes protein translation without affecting ribosome biogenesis and fidelity.
This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 55695 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 96 total
- Druggable target: yes
- MANE Select transcript:
NM_148956
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16385 |
| Approved symbol | NSUN5 |
| Name | NOP2/Sun RNA methyltransferase 5 |
| Location | 7q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NOL1R, p120(NOL1), FLJ10267, NSUN5A, Ynl022cL |
| Ensembl gene | ENSG00000130305 |
| Ensembl biotype | protein_coding |
| OMIM | 615732 |
| Entrez | 55695 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 11 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000252594, ENST00000310326, ENST00000428206, ENST00000438747, ENST00000455763, ENST00000471461, ENST00000478977, ENST00000856074, ENST00000933355, ENST00000933356, ENST00000933357, ENST00000933358, ENST00000951094, ENST00000951095
RefSeq mRNA: 4 — MANE Select: NM_148956
NM_001168347, NM_001168348, NM_018044, NM_148956
CCDS: CCDS55118, CCDS55119, CCDS5546, CCDS5547
Canonical transcript exons
ENST00000438747 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000689434 | 73307583 | 73307757 |
| ENSE00001486089 | 73302516 | 73303529 |
| ENSE00001869419 | 73308698 | 73308826 |
| ENSE00002430652 | 73304230 | 73304408 |
| ENSE00003543493 | 73303600 | 73303740 |
| ENSE00003564366 | 73304747 | 73304862 |
| ENSE00003576176 | 73308431 | 73308553 |
| ENSE00003617018 | 73304959 | 73305097 |
| ENSE00003621571 | 73307394 | 73307502 |
| ENSE00003647683 | 73303826 | 73304036 |
Expression profiles
Bgee: expression breadth ubiquitous, 142 present calls, max score 90.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8443 / max 64.1790, expressed in 1700 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84283 | 7.3462 | 1677 |
| 204476 | 0.4981 | 278 |
Top tissues by expression
142 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 90.60 | gold quality |
| blood | UBERON:0000178 | 90.23 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.78 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.66 | gold quality |
| bone element | UBERON:0001474 | 89.53 | gold quality |
| bone marrow | UBERON:0002371 | 89.53 | gold quality |
| muscle of leg | UBERON:0001383 | 89.02 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 88.96 | gold quality |
| spleen | UBERON:0002106 | 88.76 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.61 | gold quality |
| apex of heart | UBERON:0002098 | 88.45 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.21 | gold quality |
| bone marrow cell | CL:0002092 | 87.88 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 87.32 | gold quality |
| lymph node | UBERON:0000029 | 87.26 | gold quality |
| body of pancreas | UBERON:0001150 | 87.20 | gold quality |
| right uterine tube | UBERON:0001302 | 86.96 | gold quality |
| leukocyte | CL:0000738 | 86.44 | gold quality |
| monocyte | CL:0000576 | 86.41 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.28 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 86.25 | gold quality |
| fundus of stomach | UBERON:0001160 | 86.19 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.08 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.87 | gold quality |
| lower esophagus | UBERON:0013473 | 85.86 | gold quality |
| muscle tissue | UBERON:0002385 | 85.78 | gold quality |
| transverse colon | UBERON:0001157 | 85.77 | gold quality |
| body of stomach | UBERON:0001161 | 85.73 | gold quality |
| small intestine | UBERON:0002108 | 85.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.52 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 7.71 |
| E-ANND-3 | yes | 5.81 |
| E-MTAB-3929 | no | 403.57 |
| E-CURD-10 | no | 121.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting NSUN5, 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-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-885-5P | 99.59 | 68.59 | 879 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-4999-5P | 99.35 | 69.15 | 926 |
| HSA-MIR-8066 | 99.05 | 68.66 | 1532 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-4716-5P | 98.82 | 68.57 | 1168 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
| HSA-MIR-3944-5P | 98.50 | 67.55 | 997 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-1914-5P | 97.83 | 66.21 | 807 |
Literature-anchored findings (GeneRIF, showing 10)
- Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome (PMID:11978965)
- Epigenetic loss of RNA-methyltransferase NSUN5 in glioma targets ribosomes to drive a stress adaptive translational program. (PMID:31428936)
- Phenotypic consequences of NSUN5 deficiency in mammalian cells include decreased proliferation and size, which can be attributed to a reduction in total protein synthesis by altered ribosomes. (PMID:31722427)
- NSUN5 Facilitates Viral RNA Recognition by RIG-I Receptor. (PMID:33177158)
- RNA cytosine methyltransferase NSUN5 promotes protein synthesis and tumorigenic phenotypes in glioblastoma. (PMID:37057706)
- NSUN5-FTH1 Axis Inhibits Ferroptosis to Promote the Growth of Gastric Cancer Cells. (PMID:37528314)
- CDK13 promotes lipid deposition and prostate cancer progression by stimulating NSUN5-mediated m5C modification of ACC1 mRNA. (PMID:37845385)
- RNA 5-methylcytosine writer NSUN5 promotes hepatocellular carcinoma cell proliferation via a ZBED3-dependent mechanism. (PMID:38182896)
- The downregulation of NSUN5 may contribute to preeclampsiadagger. (PMID:38924712)
- NSUN5 promotes tumorigenic phenotypes through the WNT signaling pathway and immunosuppression of CD8+ T cells in gastric cancer. (PMID:39428025)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nsun5 | ENSDARG00000043209 |
| mus_musculus | Nsun5 | ENSMUSG00000000916 |
| rattus_norvegicus | Nsun5 | ENSRNOG00000001450 |
| drosophila_melanogaster | Nsun5 | FBGN0259704 |
| caenorhabditis_elegans | WBGENE00013151 |
Paralogs (2): NOP2 (ENSG00000111641), NSUN6 (ENSG00000241058)
Protein
Protein identifiers
28S rRNA (cytosine-C(5))-methyltransferase — Q96P11 (reviewed: Q96P11)
Alternative names: NOL1-related protein, NOL1/NOP2/Sun domain family member 5, Williams-Beuren syndrome chromosomal region 20A protein
All UniProt accessions (2): Q96P11, H7C2G6
UniProt curated annotations — full annotation on UniProt →
Function. S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA. m5C3782 promotes protein translation without affecting ribosome biogenesis and fidelity. Required for corpus callosum and cerebral cortex development.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Ubiquitous. Detected in placenta, heart and skeletal muscle.
Disease relevance. NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Its deletion in WBS results in decreased methylation of the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA.
Induction. Down-regulated in some glioma; epigenetic inactivation is a hallmark of glioma patients with long-term survival.
Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96P11-1 | 1 | yes |
| Q96P11-2 | 2 | |
| Q96P11-3 | 3 | |
| Q96P11-4 | 4 | |
| Q96P11-5 | 5 |
RefSeq proteins (4): NP_001161819, NP_001161820, NP_060514, NP_683759* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001678 | MeTrfase_RsmB-F_NOP2_dom | Domain |
| IPR023267 | RCMT | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
| IPR048889 | NSUN5_RCM1_N | Domain |
| IPR049560 | MeTrfase_RsmB-F_NOP2_cat | Domain |
| IPR049561 | NSUN5_7_fdxn-like | Domain |
Pfam: PF01189, PF21148, PF21153
Catalyzed reactions (Rhea), 1 shown:
- cytidine(3782) in 28S rRNA + S-adenosyl-L-methionine = 5-methylcytidine(3782) in 28S rRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:47784)
UniProt features (53 total): strand 15, helix 14, splice variant 7, binding site 4, sequence conflict 3, mutagenesis site 2, turn 2, modified residue 2, initiator methionine 1, chain 1, sequence variant 1, active site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2B9E | X-RAY DIFFRACTION | 1.65 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96P11-F1 | 91.77 | 0.76 |
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): 359 (nucleophile)
Ligand- & substrate-binding residues (4): 234–240; 258; 263; 305
Post-translational modifications (2): 2, 167
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 308 | abolished methyltransferase activity without affecting nucleolar localization; when associated with s-359. |
| 359 | abolished methyltransferase activity without affecting nucleolar localization; when associated with s-308. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (10): oligodendrocyte development (GO:0014003), cerebral cortex development (GO:0021987), corpus callosum development (GO:0022038), regulation of myelination (GO:0031641), positive regulation of translation (GO:0045727), cognition (GO:0050890), rRNA base methylation (GO:0070475), RNA methylation (GO:0001510), rRNA processing (GO:0006364), methylation (GO:0032259)
GO Molecular Function (5): RNA binding (GO:0003723), rRNA (cytosine-C5-)-methyltransferase activity (GO:0009383), methyltransferase activity (GO:0008168), RNA methyltransferase activity (GO:0008173), transferase activity (GO:0016740)
GO Cellular Component (3): nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| anatomical structure development | 2 |
| nuclear lumen | 2 |
| glial cell development | 1 |
| oligodendrocyte differentiation | 1 |
| pallium development | 1 |
| telencephalon development | 1 |
| myelination | 1 |
| regulation of cellular process | 1 |
| regulation of nervous system development | 1 |
| translation | 1 |
| regulation of translation | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of protein metabolic process | 1 |
| nervous system process | 1 |
| rRNA methylation | 1 |
| RNA modification | 1 |
| macromolecule methylation | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| metabolic process | 1 |
| nucleic acid binding | 1 |
| C-methyltransferase activity | 1 |
| rRNA (cytosine) methyltransferase activity | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| methyltransferase activity | 1 |
| catalytic activity, acting on RNA | 1 |
| catalytic activity | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2136 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NSUN5 | NSUN3 | Q9H649 | 920 |
| NSUN5 | NSUN4 | Q96CB9 | 909 |
| NSUN5 | TRDMT1 | O14717 | 807 |
| NSUN5 | TRIM50 | Q86XT4 | 762 |
| NSUN5 | GTF2IRD1 | Q9UHL9 | 729 |
| NSUN5 | TBL2 | Q9Y4P3 | 722 |
| NSUN5 | FKBP6 | O75344 | 708 |
| NSUN5 | BUD23 | O43709 | 708 |
| NSUN5 | FKBP10 | Q96AY3 | 694 |
| NSUN5 | ALYREF | Q86V81 | 681 |
| NSUN5 | EIF4H | Q15056 | 675 |
| NSUN5 | NSUN2 | Q08J23 | 669 |
| NSUN5 | BCL7B | Q9BQE9 | 662 |
| NSUN5 | NSUN6 | Q8TEA1 | 646 |
| NSUN5 | FBL | P22087 | 633 |
IntAct
53 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| PSME1 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| NSUN5 | PTPN11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| CASP8 | CCN1 | psi-mi:“MI:0914”(association) | 0.350 |
| FKBP5 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| NCAPH | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| ATP2A1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| PIPSL | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNRD2 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| PSME3 | ZNF891 | psi-mi:“MI:0914”(association) | 0.350 |
| NSUN5P1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN8 | TP53I11 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPLL | TBX3 | psi-mi:“MI:0914”(association) | 0.350 |
| LMNB2 | SPOP | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF653 | URB1 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN8 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| NSUN5P1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (77): NSUN5 (Affinity Capture-MS), NSUN5 (Affinity Capture-MS), NSUN5 (Co-fractionation), NSUN5 (Co-fractionation), NSUN5 (Co-fractionation), NSUN5 (Co-fractionation), NSUN5 (Co-fractionation), POLR1C (Co-fractionation), NSUN5 (Affinity Capture-MS), NSUN5 (Affinity Capture-MS), NSUN5 (Affinity Capture-MS), NSUN5 (Affinity Capture-MS), NSUN5 (Affinity Capture-MS), NSUN5 (Affinity Capture-MS), NSUN5 (Affinity Capture-MS)
ESM2 similar proteins: A0A7N9VSG0, A0JNU3, D3ZBP4, D3ZX08, F1MH07, O43542, O55137, O55171, O88202, O88267, P15575, P16444, P22412, P31429, P41226, P43477, Q08DH8, Q0P5I5, Q14CH7, Q2KHY1, Q2V057, Q32Q92, Q3SZM7, Q3UQ84, Q5E9L5, Q5JTZ9, Q5M876, Q5RCH4, Q66KF6, Q68FW7, Q6P3H4, Q6PAY6, Q86U10, Q8K4F6, Q8K4V2, Q8R123, Q8TDZ2, Q8VCZ9, Q8VDG5, Q8VDP3
Diamond homologs: A8GDM6, O14039, P53972, Q3KNT7, Q60343, Q63ZY6, Q8GYE8, Q8K4F6, Q96P11, Q9NAA7, A1AGI0, A1S788, A1SWV0, A4WBJ4, A4WF97, A6TB06, A6TEU2, A7N0K6, A7ZMV8, A7ZSH7, A8A133, A8A593, A8AFL6, A8AQI3, A8GKG7, A9MN78, A9MNH4, B1IQ11, B1J0Q3, B1KQN1, B1LD37, B1LGP5, B1X6E1, B1XHA3, B2U2Q6, B2U477, B2VK95, B4F1L5, B5F3P3, B5XNC2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 14 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1325 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:73303736:CTAGC:C | acceptor_gain | 1.0000 |
| 7:73303737:TAGC:T | acceptor_gain | 1.0000 |
| 7:73303738:AGC:A | acceptor_gain | 1.0000 |
| 7:73303739:GC:G | acceptor_gain | 1.0000 |
| 7:73303740:CC:C | acceptor_gain | 1.0000 |
| 7:73303741:C:CA | acceptor_loss | 1.0000 |
| 7:73303741:C:CC | acceptor_gain | 1.0000 |
| 7:73303821:TGTA:T | donor_loss | 1.0000 |
| 7:73303822:GTAC:G | donor_loss | 1.0000 |
| 7:73303825:C:CT | donor_loss | 1.0000 |
| 7:73304405:CTTC:C | acceptor_gain | 1.0000 |
| 7:73304742:CTCA:C | donor_loss | 1.0000 |
| 7:73304743:TCACC:T | donor_loss | 1.0000 |
| 7:73304744:CA:C | donor_loss | 1.0000 |
| 7:73304745:A:AC | donor_gain | 1.0000 |
| 7:73304745:A:AG | donor_loss | 1.0000 |
| 7:73304745:AC:A | donor_gain | 1.0000 |
| 7:73304746:C:A | donor_loss | 1.0000 |
| 7:73304746:C:CC | donor_gain | 1.0000 |
| 7:73304746:CC:C | donor_gain | 1.0000 |
| 7:73304858:CTGGC:C | acceptor_gain | 1.0000 |
| 7:73304863:C:CC | acceptor_gain | 1.0000 |
| 7:73304954:CCTA:C | donor_loss | 1.0000 |
| 7:73304955:CTAC:C | donor_loss | 1.0000 |
| 7:73304957:AC:A | donor_gain | 1.0000 |
| 7:73304957:ACCCT:A | donor_loss | 1.0000 |
| 7:73304958:CC:C | donor_gain | 1.0000 |
| 7:73304963:T:TA | donor_gain | 1.0000 |
| 7:73305093:CGAGG:C | acceptor_gain | 1.0000 |
| 7:73305096:GG:G | acceptor_gain | 1.0000 |
AlphaMissense
2965 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:73307471:G:C | N141K | 0.998 |
| 7:73307471:G:T | N141K | 0.998 |
| 7:73304776:A:C | S242R | 0.997 |
| 7:73304776:A:T | S242R | 0.997 |
| 7:73304778:T:G | S242R | 0.997 |
| 7:73303873:A:C | N366K | 0.996 |
| 7:73303873:A:T | N366K | 0.996 |
| 7:73303874:T:A | N366I | 0.996 |
| 7:73304782:C:A | K240N | 0.996 |
| 7:73304782:C:G | K240N | 0.996 |
| 7:73303632:G:C | F418L | 0.994 |
| 7:73303632:G:T | F418L | 0.994 |
| 7:73303634:A:G | F418L | 0.994 |
| 7:73303905:A:C | Y356D | 0.994 |
| 7:73304798:G:T | A235D | 0.994 |
| 7:73304857:G:C | S215R | 0.994 |
| 7:73304857:G:T | S215R | 0.994 |
| 7:73304859:T:G | S215R | 0.994 |
| 7:73304397:G:T | A256D | 0.993 |
| 7:73307479:G:T | R139S | 0.993 |
| 7:73303635:G:C | F417L | 0.992 |
| 7:73303635:G:T | F417L | 0.992 |
| 7:73303637:A:G | F417L | 0.992 |
| 7:73303877:T:A | E365V | 0.992 |
| 7:73304250:T:C | D305G | 0.992 |
| 7:73304783:T:A | K240M | 0.992 |
| 7:73304789:C:A | G238V | 0.992 |
| 7:73304975:A:G | L208P | 0.992 |
| 7:73303627:G:T | A420D | 0.991 |
| 7:73303937:G:T | A345E | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1044901 (7:73303650 T>C), RS1044904 (7:73303658 C>T), RS1044907 (7:73303659 A>G,T), RS1044909 (7:73303665 G>A), RS111321782 (7:73305957 C>G,T), RS111341677 (7:73303435 A>C), RS111502702 (7:73308742 G>A), RS112136204 (7:73303447 C>T), RS112696722 (7:73303852 C>T), RS113289566 (7:73309726 G>A), RS113536660 (7:73310547 C>G,T), RS113605106 (7:73304346 C>T), RS11544043 (7:73303936 T>C), RS11544045 (7:73303912 C>A,G), RS1156450737 (7:73305088 GTCATCGAGGCTGCCAGGGAAGAACCAT>G)
Disease associations
OMIM: gene MIM:615732 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90013406_288 | Liver enzyme levels (alkaline phosphatase) | 1.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4802014 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 1 |
| nivalenol | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects methylation | 1 |
| Methyl Methanesulfonate | increases 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 |
|---|---|---|---|
| CHEMBL4775914 | Binding | Binding affinity to NSUN5 in PMA-differentiated human THP-1 cells incubated for 2 hrs by SDS-PAGE and LC-MS/MS analysis | Berberine Directly Targets the NEK7 Protein to Block the NEK7-NLRP3 Interaction and Exert Anti-inflammatory Activity. — J Med Chem |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TB19 | HAP1 NSUN5 (-) 1 | Cancer cell line | Male |
| CVCL_XR17 | HAP1 NSUN5 (-) 2 | Cancer cell line | Male |
| CVCL_XR18 | HAP1 NSUN5 (-) 3 | Cancer cell line | Male |
| CVCL_XR19 | HAP1 NSUN5 (-) 4 | Cancer cell line | Male |
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.