NUBP1
gene geneOn this page
Also known as NBP35CIAO5
Summary
NUBP1 (NUBP iron-sulfur cluster assembly factor 1, cytosolic, HGNC:8041) is a protein-coding gene on chromosome 16p13.13, encoding Cytosolic Fe-S cluster assembly factor NUBP1 (P53384). Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. It is a common-essential gene (DepMap: required in 96.5% of cancer cell lines).
NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).
Source: NCBI Gene 4682 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 87 total
- Cancer dependency (DepMap): dependent in 96.5% of screened cell lines (common-essential)
- MANE Select transcript:
NM_002484
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8041 |
| Approved symbol | NUBP1 |
| Name | NUBP iron-sulfur cluster assembly factor 1, cytosolic |
| Location | 16p13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NBP35, CIAO5 |
| Ensembl gene | ENSG00000103274 |
| Ensembl biotype | protein_coding |
| OMIM | 600280 |
| Entrez | 4682 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 17 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000283027, ENST00000433392, ENST00000571175, ENST00000571790, ENST00000573663, ENST00000574137, ENST00000574334, ENST00000574691, ENST00000851530, ENST00000851531, ENST00000851532, ENST00000924644, ENST00000924645, ENST00000924646, ENST00000924647, ENST00000924648, ENST00000924649, ENST00000924650, ENST00000960378, ENST00000960379
RefSeq mRNA: 6 — MANE Select: NM_002484
NM_001278506, NM_001323594, NM_001323595, NM_001323596, NM_001323597, NM_002484
CCDS: CCDS10543, CCDS61839
Canonical transcript exons
ENST00000283027 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001648429 | 10743842 | 10743882 |
| ENSE00003473182 | 10747143 | 10747276 |
| ENSE00003498438 | 10761364 | 10761474 |
| ENSE00003512417 | 10761757 | 10761859 |
| ENSE00003519574 | 10767949 | 10768032 |
| ENSE00003544499 | 10769047 | 10769351 |
| ENSE00003554058 | 10752610 | 10752678 |
| ENSE00003578466 | 10756690 | 10756780 |
| ENSE00003630844 | 10757873 | 10758027 |
| ENSE00003637492 | 10743961 | 10744065 |
| ENSE00003639552 | 10755721 | 10755753 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 94.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.3834 / max 287.0956, expressed in 1818 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 152705 | 21.5826 | 1817 |
| 152706 | 0.8007 | 184 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 94.04 | gold quality |
| mononuclear cell | CL:0000842 | 93.47 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.41 | gold quality |
| leukocyte | CL:0000738 | 93.39 | gold quality |
| apex of heart | UBERON:0002098 | 93.32 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.20 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.07 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.86 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.80 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.66 | gold quality |
| granulocyte | CL:0000094 | 92.50 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.34 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.71 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.39 | gold quality |
| adrenal gland | UBERON:0002369 | 91.25 | gold quality |
| body of pancreas | UBERON:0001150 | 91.18 | gold quality |
| muscle of leg | UBERON:0001383 | 90.98 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.92 | gold quality |
| heart | UBERON:0000948 | 90.90 | gold quality |
| cardiac atrium | UBERON:0002081 | 90.78 | gold quality |
| body of stomach | UBERON:0001161 | 90.75 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.63 | gold quality |
| left uterine tube | UBERON:0001303 | 90.62 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.43 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.37 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.30 | gold quality |
| lower esophagus | UBERON:0013473 | 90.28 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.96 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.68 | gold quality |
| left coronary artery | UBERON:0001626 | 89.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.48 |
| E-GEOD-124858 | no | 52.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting NUBP1, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-4799-5P | 99.82 | 70.60 | 2663 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-593-3P | 99.22 | 67.28 | 1327 |
| HSA-MIR-4744 | 99.01 | 69.91 | 1581 |
| HSA-MIR-3921 | 97.81 | 67.45 | 1431 |
| HSA-MIR-938 | 97.41 | 68.28 | 656 |
| HSA-MIR-4653-5P | 97.22 | 67.72 | 1429 |
| HSA-MIR-3674 | 97.01 | 68.86 | 1171 |
| HSA-MIR-6886-3P | 96.96 | 66.36 | 844 |
| HSA-MIR-6734-5P | 95.70 | 65.56 | 950 |
| HSA-MIR-10398-3P | 93.46 | 63.62 | 70 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.5% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- The cytosolic soluble P-loop NTPase termed huNbp35 (also known as Nubp1) was identified as an Fe/S protein, and its role in the maturation of Fe/S proteins in HeLa cells, is defined. (PMID:18573874)
- GLRX3 Acts as a [2Fe-2S] Cluster Chaperone in the Cytosolic Iron-Sulfur Assembly Machinery Transferring [2Fe-2S] Clusters to NUBP1. (PMID:32429669)
- Unraveling the mechanism of [4Fe-4S] cluster assembly on the N-terminal cluster binding site of NUBP1. (PMID:36916754)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nubp1 | ENSDARG00000055472 |
| mus_musculus | Nubp1 | ENSMUSG00000022503 |
| rattus_norvegicus | Nubp1 | ENSRNOG00000077863 |
| drosophila_melanogaster | Nubp1 | FBGN0032597 |
| caenorhabditis_elegans | nubp-1 | WBGENE00008664 |
Paralogs (2): NUBP2 (ENSG00000095906), NUBPL (ENSG00000151413)
Protein
Protein identifiers
Cytosolic Fe-S cluster assembly factor NUBP1 — P53384 (reviewed: P53384)
Alternative names: Nucleotide-binding protein 1
All UniProt accessions (4): P53384, I3L3A0, I3L518, I3L531
UniProt curated annotations — full annotation on UniProt →
Function. Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery. Required for maturation of extramitochondrial Fe-S proteins. The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins. Implicated in the regulation of centrosome duplication. Negatively regulates cilium formation and structure.
Subunit / interactions. Heterotetramer of 2 NUBP1 and 2 NUBP2 chains. Interacts with KIFC1. Interacts with NUBP2. Interacts with the BBS/CCT complex subunit CCT1.
Subcellular location. Cytoplasm. Nucleus. Cell projection. Cytoskeleton. Cilium axoneme. Cilium basal body. Microtubule organizing center. Centrosome. Centriole.
Cofactor. Binds 4 [4Fe-4S] clusters per heterotetramer. Contains two stable clusters in the N-termini of NUBP1 and two labile, bridging clusters between subunits of the NUBP1-NUBP2 heterotetramer.
Similarity. Belongs to the Mrp/NBP35 ATP-binding proteins family. NUBP1/NBP35 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P53384-1 | 1 | yes |
| P53384-2 | 2 |
RefSeq proteins (6): NP_001265435, NP_001310523, NP_001310524, NP_001310525, NP_001310526, NP_002475* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000808 | Mrp-like_CS | Conserved_site |
| IPR003593 | AAA+_ATPase | Domain |
| IPR019591 | Mrp/NBP35_ATP-bd | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR028601 | NUBP1/Nbp35 | Family |
| IPR033756 | YlxH/NBP35 | Family |
Pfam: PF10609
UniProt features (14 total): binding site 7, sequence conflict 2, modified residue 2, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P53384-F1 | 90.00 | 0.70 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (7): 8; 22; 25; 31; 62–69; 235; 238
Post-translational modifications (2): 1, 319
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2564830 | Cytosolic iron-sulfur cluster assembly |
MSigDB gene sets: 188 (showing top):
GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_INTRACELLULAR_IRON_ION_HOMEOSTASIS, GOBP_GROWTH, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, MARTINEZ_RB1_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_REGULATION_OF_CENTROSOME_CYCLE, PEART_HDAC_PROLIFERATION_CLUSTER_DN
GO Biological Process (7): regulation of cell growth (GO:0001558), intracellular iron ion homeostasis (GO:0006879), negative regulation of centrosome duplication (GO:0010826), iron-sulfur cluster assembly (GO:0016226), cell projection organization (GO:0030030), centrosome localization (GO:0051642), protein localization to cell cortex (GO:0072697)
GO Molecular Function (8): nucleotide binding (GO:0000166), ATP binding (GO:0005524), metal ion binding (GO:0046872), iron-sulfur cluster binding (GO:0051536), 4 iron, 4 sulfur cluster binding (GO:0051539), ATP-dependent FeS chaperone activity (GO:0140663), protein binding (GO:0005515), ATP hydrolysis activity (GO:0016887)
GO Cellular Component (14): nucleus (GO:0005634), Golgi apparatus (GO:0005794), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), axoneme (GO:0005930), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm end piece (GO:0097229), cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 8 |
| sperm flagellum | 3 |
| ATP-dependent activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| cell growth | 1 |
| regulation of growth | 1 |
| regulation of cellular component organization | 1 |
| intracellular monoatomic cation homeostasis | 1 |
| inorganic ion homeostasis | 1 |
| regulation of centrosome duplication | 1 |
| negative regulation of centrosome cycle | 1 |
| centrosome duplication | 1 |
| metallo-sulfur cluster assembly | 1 |
| cellular component organization | 1 |
| microtubule organizing center localization | 1 |
| protein localization to cell periphery | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| metal cluster binding | 1 |
| iron-sulfur cluster binding | 1 |
| metallochaperone activity | 1 |
| binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| endomembrane system | 1 |
| centriole | 1 |
| cytoskeleton | 1 |
| microtubule | 1 |
| ciliary plasm | 1 |
| intracellular anatomical structure | 1 |
| microtubule cytoskeleton | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
1472 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NUBP1 | CIAO1 | O76071 | 939 |
| NUBP1 | CIAPIN1 | Q6FI81 | 907 |
| NUBP1 | CIAO3 | Q9H6Q4 | 906 |
| NUBP1 | MMS19 | Q96T76 | 877 |
| NUBP1 | FOXRED1 | Q96CU9 | 829 |
| NUBP1 | CIAO2B | Q9Y3D0 | 815 |
| NUBP1 | ISCU | Q9H1K1 | 790 |
| NUBP1 | NFS1 | Q9Y697 | 780 |
| NUBP1 | CIAO2A | Q9H5X1 | 773 |
| NUBP1 | NDOR1 | Q9UHB4 | 762 |
| NUBP1 | LYRM4 | Q9HD34 | 727 |
| NUBP1 | NFU1 | Q9UMS0 | 701 |
| NUBP1 | ABCB7 | O75027 | 696 |
| NUBP1 | GLRX3 | O76003 | 674 |
| NUBP1 | IBA57 | Q5T440 | 633 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NUBP1 | NUBP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NUBP1 | psi-mi:“MI:0407”(direct interaction) | 0.560 | |
| SPRY2 | NUBP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| QPCT | NUBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| NUBP1 | YBEY | psi-mi:“MI:0914”(association) | 0.350 |
| NUBP2 | TK2 | psi-mi:“MI:0914”(association) | 0.350 |
| CIAPIN1 | NUBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CIAO3 | NUBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| NUBP2 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| HRAS | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (85): NUBP1 (Affinity Capture-MS), AIMP1 (Co-fractionation), NUBP1 (Two-hybrid), NUBP1 (Affinity Capture-MS), NUBP1 (Negative Genetic), NUBP1 (Negative Genetic), NUBP1 (Positive Genetic), NUBP1 (Positive Genetic), NUBP1 (Negative Genetic), NUBP1 (Negative Genetic), NUBP1 (Negative Genetic), NUBP1 (Negative Genetic), ORAOV1 (Negative Genetic), POLE (Negative Genetic), POLR3B (Positive Genetic)
ESM2 similar proteins: A1C7T4, A7RUD5, A8PW87, A8WWQ7, B0X4N8, B3MU92, B3NNJ9, B4G8R5, B4I540, B4IYG8, B4JBI7, B4KHX1, B4LGB4, B4LUF5, B4N1C3, B4P9A8, B4Q7F5, O94442, P0CO88, P0CO89, P52920, P53384, Q0CVD6, Q0UI56, Q16T79, Q1EAU8, Q24K00, Q29MT7, Q2H317, Q2UDE2, Q3KQF0, Q4HZ34, Q4WZS2, Q59MP1, Q5BBC5, Q5EB25, Q5I050, Q5I0L4, Q6BTZ6, Q6C7A6
Diamond homologs: A1C4X8, A1C7T4, A4QNM5, A7RUD5, A7SE07, A8PW87, A8WWQ7, A9V7A1, B0X4N8, B0XDJ0, B3M9R3, B3MU92, B3NIP2, B3NNJ9, B3RPX4, B4G8R5, B4H7P4, B4I540, B4IAD1, B4IUH5, B4IYG8, B4JBI7, B4KHX1, B4KY56, B4LGB4, B4LUF5, B4N1C3, B4N4D9, B4P9A8, B4PES4, B4Q7F5, B4QJ46, B6K1G6, O94442, P0C8Q1, P0CO88, P0CO89, P0CO90, P0CO91, P40558
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NUBP1 | “form complex” | “NUBP1-NUBP2 iron-sulfur cluster assembly scaffold complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2162 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:10747138:TGCA:T | acceptor_loss | 1.0000 |
| 16:10747139:GCA:G | acceptor_loss | 1.0000 |
| 16:10747141:A:AG | acceptor_gain | 1.0000 |
| 16:10747142:G:A | acceptor_loss | 1.0000 |
| 16:10747142:G:GG | acceptor_gain | 1.0000 |
| 16:10747142:GCT:G | acceptor_gain | 1.0000 |
| 16:10747142:GCTAT:G | acceptor_gain | 1.0000 |
| 16:10757868:TCTA:T | acceptor_loss | 1.0000 |
| 16:10757871:A:AG | acceptor_gain | 1.0000 |
| 16:10757871:AG:A | acceptor_gain | 1.0000 |
| 16:10757871:AGG:A | acceptor_loss | 1.0000 |
| 16:10757872:G:GT | acceptor_gain | 1.0000 |
| 16:10757872:GG:G | acceptor_gain | 1.0000 |
| 16:10757872:GGC:G | acceptor_gain | 1.0000 |
| 16:10757872:GGCA:G | acceptor_gain | 1.0000 |
| 16:10757872:GGCAT:G | acceptor_gain | 1.0000 |
| 16:10758028:G:GA | donor_loss | 1.0000 |
| 16:10758028:G:GG | donor_gain | 1.0000 |
| 16:10761359:CGTA:C | acceptor_loss | 1.0000 |
| 16:10761360:GTAG:G | acceptor_loss | 1.0000 |
| 16:10761361:TA:T | acceptor_loss | 1.0000 |
| 16:10761362:A:AG | acceptor_gain | 1.0000 |
| 16:10761362:A:AT | acceptor_loss | 1.0000 |
| 16:10761362:AGGAG:A | acceptor_gain | 1.0000 |
| 16:10761363:G:GG | acceptor_gain | 1.0000 |
| 16:10761363:GGA:G | acceptor_gain | 1.0000 |
| 16:10761363:GGAGG:G | acceptor_gain | 1.0000 |
| 16:10761472:AAG:A | donor_loss | 1.0000 |
| 16:10761474:GGTG:G | donor_loss | 1.0000 |
| 16:10761475:G:T | donor_loss | 1.0000 |
AlphaMissense
2106 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:10752629:A:T | D93V | 0.999 |
| 16:10752630:T:A | D93E | 0.999 |
| 16:10752630:T:G | D93E | 0.999 |
| 16:10747221:A:T | K68I | 0.998 |
| 16:10747223:A:C | S69R | 0.998 |
| 16:10747225:C:A | S69R | 0.998 |
| 16:10747225:C:G | S69R | 0.998 |
| 16:10752629:A:C | D93A | 0.998 |
| 16:10752632:T:A | I94K | 0.998 |
| 16:10757905:T:A | W162R | 0.998 |
| 16:10757905:T:C | W162R | 0.998 |
| 16:10757924:T:C | L168P | 0.998 |
| 16:10747206:A:T | K63I | 0.997 |
| 16:10747218:G:A | G67E | 0.997 |
| 16:10752620:T:C | L90P | 0.997 |
| 16:10752622:G:C | D91H | 0.997 |
| 16:10757907:G:C | W162C | 0.997 |
| 16:10757907:G:T | W162C | 0.997 |
| 16:10747217:G:A | G67R | 0.996 |
| 16:10747217:G:C | G67R | 0.996 |
| 16:10747217:G:T | G67W | 0.996 |
| 16:10747220:A:C | K68Q | 0.996 |
| 16:10747220:A:G | K68E | 0.996 |
| 16:10747232:A:C | S72R | 0.996 |
| 16:10747234:C:A | S72R | 0.996 |
| 16:10747234:C:G | S72R | 0.996 |
| 16:10747242:T:C | L75P | 0.996 |
| 16:10752623:A:C | D91A | 0.996 |
| 16:10752623:A:T | D91V | 0.996 |
| 16:10752624:C:A | D91E | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000043470 (16:10762721 A>G), RS1000092218 (16:10744769 T>A,G), RS1000173095 (16:10748203 G>A), RS1000186172 (16:10756971 T>C), RS1000338594 (16:10755098 A>G), RS1000432075 (16:10754777 G>A), RS1000498411 (16:10759843 C>G,T), RS1000556543 (16:10759595 A>G), RS1000625861 (16:10754333 C>T), RS1000780222 (16:10749179 G>A), RS1000907637 (16:10768907 G>A,C), RS1000953181 (16:10760163 T>A,C), RS1000986273 (16:10768159 G>A), RS1000990687 (16:10759749 C>T), RS1001157878 (16:10763506 C>G)
Disease associations
OMIM: gene MIM:600280 | 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 |
|---|---|---|
| GCST007001_9 | Cerebrospinal AB1-42 levels in normal cognition | 5.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004670 | beta-amyloid 1-42 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| potassium chromate(VI) | affects cotreatment, decreases expression, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| trichostatin A | affects expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Nickel | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
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.