NOM1
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Also known as SGD1PPP1R113
Summary
NOM1 (nucleolar protein with MIF4G domain 1, HGNC:13244) is a protein-coding gene on chromosome 7q36.3, encoding Nucleolar MIF4G domain-containing protein 1 (Q5C9Z4). Plays a role in targeting PPP1CA to the nucleolus. It is a selective cancer dependency (DepMap: 79.8% of cell lines).
Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).
Source: NCBI Gene 64434 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 183 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 79.8% of screened cell lines
- MANE Select transcript:
NM_138400
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13244 |
| Approved symbol | NOM1 |
| Name | nucleolar protein with MIF4G domain 1 |
| Location | 7q36.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SGD1, PPP1R113 |
| Ensembl gene | ENSG00000146909 |
| Ensembl biotype | protein_coding |
| OMIM | 611269 |
| Entrez | 64434 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 retained_intron, 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000275820, ENST00000460332, ENST00000469271, ENST00000472491, ENST00000475176, ENST00000485661, ENST00000486131, ENST00000489850, ENST00000851672, ENST00000851673
RefSeq mRNA: 2 — MANE Select: NM_138400
NM_001353366, NM_138400
CCDS: CCDS34787
Canonical transcript exons
ENST00000275820 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000977980 | 156963905 | 156964026 |
| ENSE00000977981 | 156966270 | 156966402 |
| ENSE00001019078 | 156969529 | 156973176 |
| ENSE00001019082 | 156959851 | 156960174 |
| ENSE00001019088 | 156954103 | 156954298 |
| ENSE00001147611 | 156952474 | 156952598 |
| ENSE00001197979 | 156949712 | 156950724 |
| ENSE00003465084 | 156966961 | 156967092 |
| ENSE00003526836 | 156963008 | 156963175 |
| ENSE00003609529 | 156969087 | 156969196 |
| ENSE00003686415 | 156962151 | 156962261 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 95.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4228 / max 340.1525, expressed in 1793 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82273 | 14.4228 | 1793 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 95.48 | gold quality |
| visceral pleura | UBERON:0002401 | 89.46 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.40 | gold quality |
| parietal pleura | UBERON:0002400 | 88.35 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.00 | gold quality |
| body of pancreas | UBERON:0001150 | 86.42 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.27 | gold quality |
| colonic epithelium | UBERON:0000397 | 85.92 | gold quality |
| skin of leg | UBERON:0001511 | 85.76 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.73 | gold quality |
| sural nerve | UBERON:0015488 | 85.41 | gold quality |
| zone of skin | UBERON:0000014 | 85.40 | gold quality |
| left ovary | UBERON:0002119 | 85.36 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.90 | gold quality |
| right ovary | UBERON:0002118 | 84.76 | gold quality |
| gingiva | UBERON:0001828 | 84.75 | gold quality |
| endothelial cell | CL:0000115 | 84.23 | silver quality |
| body of uterus | UBERON:0009853 | 84.21 | gold quality |
| ovary | UBERON:0000992 | 84.18 | gold quality |
| pancreas | UBERON:0001264 | 84.08 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 83.99 | gold quality |
| ectocervix | UBERON:0012249 | 83.98 | gold quality |
| monocyte | CL:0000576 | 83.92 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 83.83 | gold quality |
| oviduct epithelium | UBERON:0004804 | 83.67 | gold quality |
| gastrocnemius | UBERON:0001388 | 83.65 | gold quality |
| vagina | UBERON:0000996 | 83.64 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 83.63 | gold quality |
| omental fat pad | UBERON:0010414 | 83.63 | gold quality |
| peritoneum | UBERON:0002358 | 83.59 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.65 |
| E-HCAD-29 | no | 148.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting NOM1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-132-3P | 99.73 | 70.56 | 1424 |
| HSA-MIR-212-3P | 99.73 | 70.65 | 1424 |
| HSA-MIR-1284 | 99.67 | 73.56 | 1353 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-216A-5P | 99.50 | 68.02 | 1288 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 79.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Data demonstrate that NOM1 can target PP1 to the nucleolus and show NOM1 nucleolar localization sequence are required for this targeting activity and conclude that NOM1 is a PP1 nucleolar targeting subunit, the first identified in eukaryotic cells. (PMID:17965019)
- demonstrate direct physical interactions between yeast Sgd1p and Fal1p, and between their human orthologs (NOM1 and eIF4AIII) in vitro and in vivo, identifying human NOM1 as a missing eIF4G-like interacting partner of eIF4AIII (PMID:21576267)
- Results are consistent with a physiologically-relevant interplay between the nuclear IGF1 signaling pathway and nucleolar protein NOM1. (PMID:30639046)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nom1 | ENSDARG00000060027 |
| mus_musculus | Nom1 | ENSMUSG00000001569 |
| rattus_norvegicus | Nom1 | ENSRNOG00000048969 |
| drosophila_melanogaster | CG9004 | FBGN0035336 |
| caenorhabditis_elegans | Y52B11A.10 | WBGENE00013129 |
Paralogs (1): CWC22 (ENSG00000163510)
Protein
Protein identifiers
Nucleolar MIF4G domain-containing protein 1 — Q5C9Z4 (reviewed: Q5C9Z4)
Alternative names: SGD1 homolog
All UniProt accessions (1): Q5C9Z4
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in targeting PPP1CA to the nucleolus.
Subunit / interactions. May interact with EIF4A1, EIF4A2 and EIF4A3. Interacts with PPP1CA and PPP1CC.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Expressed in heart and skeletal muscle.
Similarity. Belongs to the CWC22 family.
RefSeq proteins (2): NP_001340295, NP_612409* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003890 | MIF4G-like_typ-3 | Domain |
| IPR003891 | Initiation_fac_eIF4g_MI | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR050781 | CWC22_splicing_factor | Family |
Pfam: PF02847, PF02854
UniProt features (29 total): compositionally biased region 8, sequence variant 6, modified residue 5, region of interest 4, domain 2, mutagenesis site 2, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5C9Z4-F1 | 70.73 | 0.30 |
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 (5): 57, 139, 317, 320, 321
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 308 | loss of interaction with ppp1ca and loss of ability to relocalize ppp1ca to the nucleolus; when associated with a-310. |
| 310 | loss of interaction with ppp1ca and loss of ability to relocalize ppp1ca to the nucleolus; when associated with a-308. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 55 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MOLTING_CYCLE, GOBP_EPIDERMIS_DEVELOPMENT, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_SKIN_DEVELOPMENT, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOCC_NUCLEOLUS, GOBP_HAIR_FOLLICLE_MATURATION, CEBPZ_TARGET_GENES, CIITA_TARGET_GENES, FOXE1_TARGET_GENES, H1_6_TARGET_GENES
GO Biological Process (2): ribosomal small subunit biogenesis (GO:0042274), hair follicle maturation (GO:0048820)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (2): nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribonucleoprotein complex biogenesis | 1 |
| ribosome biogenesis | 1 |
| hair follicle development | 1 |
| hair cycle process | 1 |
| anatomical structure maturation | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1498 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOM1 | SMARCD2 | Q92925 | 895 |
| NOM1 | EIF4A3 | P38919 | 788 |
| NOM1 | RNF32 | Q9H0A6 | 775 |
| NOM1 | LMBR1 | Q8WVP7 | 728 |
| NOM1 | G6PD | P11413 | 712 |
| NOM1 | EIF4A2 | Q14240 | 681 |
| NOM1 | H6PD | O95479 | 666 |
| NOM1 | RBM33 | Q96EV2 | 643 |
| NOM1 | EIF4A1 | P04765 | 635 |
| NOM1 | TDRD3 | Q9H7E2 | 632 |
| NOM1 | EIF3G | O75821 | 626 |
| NOM1 | EIF4G1 | Q04637 | 622 |
| NOM1 | UTP3 | Q9NQZ2 | 613 |
| NOM1 | UBE3C | Q15386 | 575 |
| NOM1 | UTP25 | Q68CQ4 | 563 |
IntAct
136 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EIF4A3 | CASC3 | psi-mi:“MI:0914”(association) | 0.980 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NOM1 | EIF4A3 | psi-mi:“MI:0915”(physical association) | 0.690 |
| NOM1 | EIF4A3 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| MAPK7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
| NEUROG3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.640 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| RPS14 | CCZ1B | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| NOM1 | NGDN | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRPK2 | NOM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOM1 | RPLP0 | psi-mi:“MI:0914”(association) | 0.530 |
| FBL | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| GTF3C2 | C1QBP | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| KRR1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| CXCR4 | FANCA | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.530 |
| LIN28B | ELAVL2 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM4 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| NOM1 | PPP1CA | psi-mi:“MI:0915”(physical association) | 0.370 |
| Calu | CACNA2D1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| M | NPEPPSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NS1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (162): NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS), NOM1 (Affinity Capture-MS)
ESM2 similar proteins: A1Z623, A2SXS5, A8YXY3, F1LQY6, O02718, O19011, O60613, P01137, P04202, P07200, P09533, P11456, P18341, P50747, P54831, Q08BI9, Q0P5I0, Q1LZ96, Q2KIJ6, Q2TBX5, Q38HS2, Q3UHE1, Q3UX43, Q58CS8, Q5C9Z4, Q5R812, Q5RB75, Q6IEE6, Q6PCX7, Q6X4M2, Q802F3, Q802G7, Q8BJQ9, Q8IVD9, Q8NC56, Q8R1N4, Q8R1T1, Q8TDX6, Q8VHC3, Q8WUX9
Diamond homologs: O13971, Q06132, Q3UFM5, Q5C9Z4, P0DP80, P0DP81, Q9W020, Q4PCY0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 152 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 |
|---|---|---|---|
| Eukaryotic Translation Elongation | 8 | 21.6× | 9e-08 |
| Eukaryotic Translation Initiation | 7 | 21.0× | 8e-07 |
| Cap-dependent Translation Initiation | 7 | 21.0× | 8e-07 |
| SARS-CoV-1 modulates host translation machinery | 7 | 21.0× | 8e-07 |
| Peptide chain elongation | 15 | 18.5× | 3e-13 |
| Viral mRNA Translation | 15 | 18.5× | 3e-13 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 7 | 18.5× | 2e-06 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 15 | 18.3× | 3e-13 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 5 | 28.8× | 9e-05 |
| ribosomal large subunit biogenesis | 7 | 23.3× | 3e-06 |
| cytoplasmic translation | 15 | 20.9× | 3e-13 |
| ribosomal small subunit biogenesis | 12 | 20.6× | 2e-10 |
| translation | 14 | 10.8× | 1e-08 |
| rRNA processing | 10 | 10.7× | 5e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
183 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 154 |
| Likely benign | 9 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1824 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:156950719:GA:G | donor_gain | 1.0000 |
| 7:156950720:A:G | donor_gain | 1.0000 |
| 7:156952468:A:AG | acceptor_gain | 1.0000 |
| 7:156952470:GCAGA:G | acceptor_gain | 1.0000 |
| 7:156952473:GA:G | acceptor_gain | 1.0000 |
| 7:156952552:G:GT | donor_gain | 1.0000 |
| 7:156952595:ACAG:A | donor_loss | 1.0000 |
| 7:156952596:CAG:C | donor_loss | 1.0000 |
| 7:156952598:GG:G | donor_loss | 1.0000 |
| 7:156952599:G:GC | donor_loss | 1.0000 |
| 7:156954089:A:AG | acceptor_gain | 1.0000 |
| 7:156954090:C:G | acceptor_gain | 1.0000 |
| 7:156954091:A:AG | acceptor_gain | 1.0000 |
| 7:156954092:A:G | acceptor_gain | 1.0000 |
| 7:156954093:T:G | acceptor_gain | 1.0000 |
| 7:156954098:T:TA | acceptor_gain | 1.0000 |
| 7:156954098:TGCA:T | acceptor_loss | 1.0000 |
| 7:156954100:CAGGT:C | acceptor_loss | 1.0000 |
| 7:156954101:A:AG | acceptor_gain | 1.0000 |
| 7:156954101:A:T | acceptor_loss | 1.0000 |
| 7:156954101:AG:A | acceptor_gain | 1.0000 |
| 7:156954101:AGGTT:A | acceptor_gain | 1.0000 |
| 7:156954102:G:GT | acceptor_gain | 1.0000 |
| 7:156954102:GG:G | acceptor_gain | 1.0000 |
| 7:156954102:GGT:G | acceptor_gain | 1.0000 |
| 7:156954102:GGTT:G | acceptor_gain | 1.0000 |
| 7:156954102:GGTTG:G | acceptor_gain | 1.0000 |
| 7:156954297:AG:A | donor_loss | 1.0000 |
| 7:156954298:GGT:G | donor_loss | 1.0000 |
| 7:156954299:G:A | donor_loss | 1.0000 |
AlphaMissense
5682 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:156963092:T:A | W610R | 0.998 |
| 7:156963092:T:C | W610R | 0.998 |
| 7:156960083:G:C | R514T | 0.997 |
| 7:156960084:G:C | R514S | 0.997 |
| 7:156960084:G:T | R514S | 0.997 |
| 7:156963930:C:A | A646D | 0.997 |
| 7:156962157:T:C | F547L | 0.995 |
| 7:156962159:T:A | F547L | 0.995 |
| 7:156962159:T:G | F547L | 0.995 |
| 7:156963094:G:C | W610C | 0.995 |
| 7:156963094:G:T | W610C | 0.995 |
| 7:156950294:T:C | I186T | 0.994 |
| 7:156962186:G:C | K556N | 0.994 |
| 7:156962186:G:T | K556N | 0.994 |
| 7:156963089:T:A | W609R | 0.994 |
| 7:156963089:T:C | W609R | 0.994 |
| 7:156963945:T:C | M651T | 0.994 |
| 7:156960083:G:T | R514M | 0.992 |
| 7:156962182:T:C | L555P | 0.991 |
| 7:156963960:G:C | R656P | 0.990 |
| 7:156963971:T:C | F660L | 0.990 |
| 7:156963973:C:A | F660L | 0.990 |
| 7:156963973:C:G | F660L | 0.990 |
| 7:156966311:T:A | V692D | 0.990 |
| 7:156954103:G:C | R371S | 0.989 |
| 7:156954103:G:T | R371S | 0.989 |
| 7:156960071:G:A | G510D | 0.989 |
| 7:156963091:G:C | W609C | 0.989 |
| 7:156963091:G:T | W609C | 0.989 |
| 7:156964020:T:C | L676P | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000043819 (7:156952998 G>A), RS1000078474 (7:156968695 A>T), RS1000267647 (7:156955041 G>A), RS1000530213 (7:156954574 G>A), RS1000619224 (7:156948255 C>T), RS1000681431 (7:156949572 T>A), RS1000701473 (7:156955238 C>A), RS1000851879 (7:156968297 C>T), RS1001090993 (7:156959714 G>T), RS1001103837 (7:156958784 C>T), RS1001147260 (7:156956859 A>G), RS1001157029 (7:156956560 A>G), RS1001291418 (7:156950808 C>G), RS1001366500 (7:156963613 G>A), RS1001407053 (7:156951103 C>T)
Disease associations
OMIM: gene MIM:611269 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): strabismus (MONDO:0003432), congenital pulmonary veins anomaly (MONDO:0020295)
Orphanet (1): Congenital pulmonary veins anomaly (Orphanet:98729)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003050_23 | Schizophrenia | 4.000000e-06 |
| GCST009675_6 | Urinary magnesium excretion | 9.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004845 | magnesium measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D013285 | Strabismus | C10.292.562.887; C11.590.810 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067109 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.49 | Kd | 3.217 | nM | CHEMBL3752910 |
| 8.49 | ED50 | 3.217 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149898: Binding affinity to human NOM1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0032 | uM |
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | decreases expression, increases expression, affects cotreatment | 3 |
| bisphenol A | decreases methylation, decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| 4-phenylbutyric acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Azacitidine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Coumestrol | increases expression, affects cotreatment | 1 |
| Bucladesine | affects cotreatment, decreases expression | 1 |
| Fluorouracil | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Medroxyprogesterone Acetate | affects cotreatment, decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652940 | Binding | Binding affinity to human NOM1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
102 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00461656 | PHASE4 | COMPLETED | Povidone-iodine Antisepsis for Strabismus Surgery |
| NCT01901588 | PHASE4 | COMPLETED | Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery |
| NCT02379546 | PHASE4 | COMPLETED | The Effect of Anaesthesia Depth on Oculo-cardiac Reflex |
| NCT03349515 | PHASE4 | COMPLETED | The Effect of Povidone-iodine Ophthalmic Surgical Prep Solution on Respiration in Children Undergoing Strabismus Surgery With General Anesthesia. |
| NCT04549844 | PHASE4 | UNKNOWN | Peribulbar Block for Prevention of Oculocardiac Reflex |
| NCT06035757 | PHASE4 | RECRUITING | The Occurrence of Emergence Agitation in Pediatric Strabismus Surgery |
| NCT06560268 | PHASE4 | NOT_YET_RECRUITING | Low Flow Anesthesia in Children Undergoing Strabismus Surgery |
| NCT00000128 | PHASE3 | UNKNOWN | A Trial of Bifocals in Myopic Children With Esophoria |
| NCT00001864 | PHASE3 | COMPLETED | Amblyopia (Lazy Eye) Treatment Study |
| NCT00038753 | PHASE3 | UNKNOWN | Vision In Preschoolers Study (VIP Study) |
| NCT01584843 | PHASE3 | COMPLETED | Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus |
| NCT04060771 | PHASE3 | UNKNOWN | Post-Operative Nausea and Vomiting in Children Submitted to Strabismus Surgery |
| NCT06863675 | PHASE3 | NOT_YET_RECRUITING | Highly Aspherical Lenslet (HAL) and Binocular Vision (BV) Disorders [HALT X(T) Study] |
| NCT00478907 | PHASE2 | COMPLETED | Prevention of Complications of Eye Surgery |
| NCT06689943 | PHASE2 | NOT_YET_RECRUITING | Pain After Strabismus Surgery |
| NCT00917982 | PHASE1 | UNKNOWN | The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic Patients |
| NCT02246556 | PHASE1 | TERMINATED | Dichoptic Virtual Reality Therapy for Amblyopia in Adults |
| NCT01616108 | PHASE2/PHASE3 | UNKNOWN | Bupivacaine Injection of Eye Muscles to Treat Strabismus |
| NCT00001143 | Not specified | COMPLETED | Development of the Eye Motor System During the First 7 Months of Life in Infants With and Without a Family History of Cross-Eye |
| NCT00001861 | Not specified | COMPLETED | Screening for Studies on Nystagmus and Strabismus |
| NCT00304577 | Not specified | COMPLETED | Bilateral Recession or Unilateral Recession-Resection as Surgery for Infantile Esotropia |
| NCT00338559 | Not specified | COMPLETED | Does LMA Instead of ET Tube Affect Incidence of Postoperative Vomiting in Children Undergoing Strabismus Correction? |
| NCT00535938 | Not specified | COMPLETED | MDs on Botox Utility (MOBILITY) |
| NCT00559234 | Not specified | COMPLETED | Potential Research Participants for Future Studies of Inherited Eye Diseases |
| NCT01109459 | Not specified | COMPLETED | Multimodal Physician Intervention to Detect Amblyopia |
| NCT01430247 | Not specified | COMPLETED | Vision Screening for the Detection of Amblyopia |
| NCT01512355 | Not specified | COMPLETED | The Effect of Dexmedetomidine on Decreasing Emergence Agitation and Delirium in Pediatric Patients Undergoing Strabismus Surgery |
| NCT01608828 | Not specified | COMPLETED | Assessing the Functional and Psychosocial Impact of Strabismus in Asian Children Using the AS-20 and IXTQ Questionnaires |
| NCT01706991 | Not specified | COMPLETED | Amblyopia and Strabismus Detection Using a Pediatric Vision Scanner |
| NCT01726842 | Not specified | COMPLETED | Amblyopia and Strabismus Detection Using a Pediatric Vision Scanner |
| NCT01791946 | Not specified | COMPLETED | Binocular Treatment of Amblyopia Before and After Strabismus Surgery |
| NCT01812044 | Not specified | COMPLETED | Postoperative Subtenons Anesthesia for Postoperative Pain in Pediatric Strabismus Surgery |
| NCT01832883 | Not specified | COMPLETED | Amblyopia and Strabismus Detection Using a Pediatric Vision Scanner |
| NCT02113709 | Not specified | UNKNOWN | Determining the Efficacy of Full-time Occlusion Therapy in Severe Amblyopia at Different Ages |
| NCT02152787 | Not specified | UNKNOWN | Comparison of Propofol 1mg/kg and Propofol 0.5mg/kg for Prevention of Emergence Agitation in Children Undergoing Strabismus Surgery During Sevoflurane Anesthesia |
| NCT02228070 | Not specified | COMPLETED | Strabismus Measurements Using Automated 3D Video Oculography |
| NCT02236351 | Not specified | UNKNOWN | New Pediatric Patching Method to Improve Compliance |
| NCT02360969 | Not specified | COMPLETED | Effect of Neuromuscular Blockade on the Oculomotor by Not Squinting Child |
| NCT02454920 | Not specified | COMPLETED | Measurement of Insertion of Extraocular Muscles Using Anterior Segment Optical Coherence Tomography |
| NCT02455401 | Not specified | COMPLETED | Effect of Remifentanil on Postoperative Vomiting in Pediatric Strabismus Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital pulmonary veins anomaly, strabismus