ALDH16A1
geneOn this page
Also known as MGC10204
Summary
ALDH16A1 (aldehyde dehydrogenase 16 family member A1, HGNC:28114) is a protein-coding gene on chromosome 19q13.33, encoding Aldehyde dehydrogenase family 16 member A1 (Q8IZ83).
This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 126133 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 138 total
- Druggable target: yes
- MANE Select transcript:
NM_153329
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28114 |
| Approved symbol | ALDH16A1 |
| Name | aldehyde dehydrogenase 16 family member A1 |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC10204 |
| Ensembl gene | ENSG00000161618 |
| Ensembl biotype | protein_coding |
| OMIM | 613358 |
| Entrez | 126133 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 17 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000293350, ENST00000455361, ENST00000540132, ENST00000593417, ENST00000594549, ENST00000598015, ENST00000599652, ENST00000600265, ENST00000910812, ENST00000910813, ENST00000910814, ENST00000930086, ENST00000930087, ENST00000930088, ENST00000930089, ENST00000930090, ENST00000965344, ENST00000965345, ENST00000965346, ENST00000965347, ENST00000965348, ENST00000965349
RefSeq mRNA: 2 — MANE Select: NM_153329
NM_001145396, NM_153329
CCDS: CCDS12766, CCDS46141
Canonical transcript exons
ENST00000293350 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001287002 | 49470306 | 49471050 |
| ENSE00003044873 | 49453225 | 49453421 |
| ENSE00003491229 | 49464127 | 49464263 |
| ENSE00003501373 | 49460822 | 49460899 |
| ENSE00003509190 | 49462570 | 49462755 |
| ENSE00003518102 | 49461884 | 49462036 |
| ENSE00003519897 | 49464632 | 49464762 |
| ENSE00003554548 | 49468864 | 49468986 |
| ENSE00003556880 | 49464417 | 49464522 |
| ENSE00003559702 | 49465738 | 49465905 |
| ENSE00003594721 | 49463854 | 49463949 |
| ENSE00003626480 | 49459670 | 49459848 |
| ENSE00003630348 | 49466082 | 49466283 |
| ENSE00003634740 | 49461619 | 49461800 |
| ENSE00003645534 | 49458960 | 49459086 |
| ENSE00003668513 | 49458486 | 49458588 |
| ENSE00003673881 | 49468381 | 49468566 |
Expression profiles
Bgee: expression breadth ubiquitous, 212 present calls, max score 91.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.6377 / max 191.1711, expressed in 1812 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 176986 | 16.4722 | 1797 |
| 176988 | 3.3198 | 953 |
| 176987 | 1.7613 | 699 |
| 208896 | 0.0844 | 42 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 91.91 | gold quality |
| spleen | UBERON:0002106 | 91.46 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.06 | gold quality |
| endocervix | UBERON:0000458 | 89.64 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.02 | gold quality |
| ectocervix | UBERON:0012249 | 88.80 | gold quality |
| apex of heart | UBERON:0002098 | 88.71 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.40 | gold quality |
| metanephros cortex | UBERON:0010533 | 88.35 | gold quality |
| body of pancreas | UBERON:0001150 | 88.13 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.04 | gold quality |
| skin of leg | UBERON:0001511 | 87.86 | gold quality |
| small intestine | UBERON:0002108 | 87.66 | gold quality |
| left uterine tube | UBERON:0001303 | 87.45 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.28 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.26 | gold quality |
| body of stomach | UBERON:0001161 | 87.24 | gold quality |
| skin of abdomen | UBERON:0001416 | 87.24 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.05 | gold quality |
| body of uterus | UBERON:0009853 | 86.97 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.90 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 86.76 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.76 | gold quality |
| transverse colon | UBERON:0001157 | 86.70 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.62 | gold quality |
| omental fat pad | UBERON:0010414 | 86.31 | gold quality |
| leukocyte | CL:0000738 | 86.30 | gold quality |
| peritoneum | UBERON:0002358 | 86.27 | gold quality |
| monocyte | CL:0000576 | 86.15 | gold quality |
| right lung | UBERON:0002167 | 86.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
30 targeting ALDH16A1, 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-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-6807-3P | 99.15 | 69.23 | 1275 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-4686 | 98.77 | 66.87 | 964 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-7154-3P | 97.65 | 65.02 | 985 |
| HSA-MIR-1225-3P | 97.29 | 64.60 | 876 |
| HSA-MIR-6762-5P | 96.55 | 64.62 | 972 |
| HSA-MIR-6845-5P | 96.55 | 64.65 | 969 |
| HSA-MIR-7109-3P | 94.23 | 67.19 | 743 |
Literature-anchored findings (GeneRIF, showing 2)
- Data report that maspardin localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments, and that maspardin interacts with the aldehyde dehydrogenase ALDH16A1. (PMID:19184135)
- Both the short and long forms of human ALDH16A1 protein would lack catalytic activity. (PMID:23348497)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | aldh16a1 | ENSDARG00000037935 |
| mus_musculus | Aldh16a1 | ENSMUSG00000007833 |
| rattus_norvegicus | Aldh16a1 | ENSRNOG00000020623 |
| drosophila_melanogaster | CG8665 | FBGN0032945 |
| drosophila_melanogaster | CG31075 | FBGN0051075 |
| caenorhabditis_elegans | WBGENE00000107 | |
| caenorhabditis_elegans | WBGENE00000108 | |
| caenorhabditis_elegans | WBGENE00000109 |
Paralogs (17): ALDH3B1 (ENSG00000006534), ALDH3A2 (ENSG00000072210), ALDH3A1 (ENSG00000108602), ALDH2 (ENSG00000111275), ALDH5A1 (ENSG00000112294), ALDH8A1 (ENSG00000118514), ALDH6A1 (ENSG00000119711), ALDH1A2 (ENSG00000128918), ALDH3B2 (ENSG00000132746), ALDH1L2 (ENSG00000136010), ALDH1B1 (ENSG00000137124), ALDH9A1 (ENSG00000143149), ALDH1L1 (ENSG00000144908), ALDH4A1 (ENSG00000159423), ALDH7A1 (ENSG00000164904), ALDH1A1 (ENSG00000165092), ALDH1A3 (ENSG00000184254)
Protein
Protein identifiers
Aldehyde dehydrogenase family 16 member A1 — Q8IZ83 (reviewed: Q8IZ83)
All UniProt accessions (4): Q8IZ83, F5H4B6, M0QY06, M0QYY1
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with SPG21.
Similarity. Belongs to the aldehyde dehydrogenase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IZ83-1 | 1 | yes |
| Q8IZ83-2 | 2 | |
| Q8IZ83-3 | 3 |
RefSeq proteins (2): NP_001138868, NP_699160* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011408 | Aldehyde_DH | Family |
| IPR015590 | Aldehyde_DH_dom | Domain |
| IPR016161 | Ald_DH/histidinol_DH | Homologous_superfamily |
| IPR016162 | Ald_DH_N | Homologous_superfamily |
| IPR016163 | Ald_DH_C | Homologous_superfamily |
Pfam: PF00171
UniProt features (6 total): splice variant 3, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IZ83-F1 | 91.58 | 0.78 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 72 (showing top):
RICKMAN_METASTASIS_DN, RYTTCCTG_ETS2_B, P300_01, CUI_TCF21_TARGETS_2_UP, GARY_CD5_TARGETS_UP, MGGAAGTG_GABP_B, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_UP, FORTSCHEGGER_PHF8_TARGETS_DN, GOMF_ALDEHYDE_DEHYDROGENASE_NAD_P_PLUS_ACTIVITY, ID1_TARGET_GENES, KMT2D_TARGET_GENES, ZBTB12_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P
GO Biological Process (0):
GO Molecular Function (4): aldehyde dehydrogenase (NAD+) activity (GO:0004029), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| aldehyde dehydrogenase [NAD(P)+] activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
3193 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ALDH16A1 | SPG21 | Q9NZD8 | 951 |
| ALDH16A1 | ALDH18A1 | P54886 | 681 |
| ALDH16A1 | SLC2A9 | Q9NRM0 | 624 |
| ALDH16A1 | ALDH3B2 | P48448 | 612 |
| ALDH16A1 | LANCL1 | O43813 | 603 |
| ALDH16A1 | PAAF1 | Q9BRP4 | 574 |
| ALDH16A1 | NIPSNAP2 | O75323 | 561 |
| ALDH16A1 | ALDH3A2 | P51648 | 556 |
| ALDH16A1 | ABCG2 | Q9UNQ0 | 521 |
| ALDH16A1 | ALDH3B1 | P43353 | 512 |
| ALDH16A1 | LCK | P06239 | 502 |
| ALDH16A1 | PCMT1 | P22061 | 502 |
| ALDH16A1 | BHMT | Q93088 | 469 |
| ALDH16A1 | ALDH7A1 | P49419 | 461 |
| ALDH16A1 | USP1 | O94782 | 460 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ALDH16A1 | DERA | psi-mi:“MI:0915”(physical association) | 0.750 |
| DERA | ALDH16A1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| ERP29 | GLB1L | psi-mi:“MI:0914”(association) | 0.640 |
| DLGAP4 | LIN7A | psi-mi:“MI:0914”(association) | 0.590 |
| ALDH16A1 | DLGAP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | ALDH16A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM117B | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| ERP29 | ARSB | psi-mi:“MI:0914”(association) | 0.530 |
| ALDH16A1 | TFAP2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| Lgals3bp | CS | psi-mi:“MI:0914”(association) | 0.350 |
| PCMT1 | YDJC | psi-mi:“MI:0914”(association) | 0.350 |
| ERP29 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| TLR1 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| ADD2 | ROCK2 | psi-mi:“MI:0914”(association) | 0.350 |
| LANCL1 | MYO7A | psi-mi:“MI:0914”(association) | 0.350 |
| USP1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TGFB1I1 | psi-mi:“MI:0914”(association) | 0.350 | |
| AURKB | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| LATS2 | WTIP | psi-mi:“MI:0914”(association) | 0.350 |
| CEP63 | CIT | psi-mi:“MI:0914”(association) | 0.350 |
| CEP192 | WASL | psi-mi:“MI:0914”(association) | 0.350 |
| ALDH16A1 | TRIAP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATXN7L1 | USP27X | psi-mi:“MI:0914”(association) | 0.350 |
| TLR1 | LRP6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (97): ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Co-fractionation), ALDH16A1 (Co-fractionation), ALDH16A1 (Co-fractionation), ALDH16A1 (Co-fractionation), ALDH16A1 (Co-fractionation), ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS)
ESM2 similar proteins: A0A061IR73, A5YM72, A6QR56, A8MXQ7, D3KCC4, D3Z7H8, I3L5V6, O19179, O95382, P0C263, P0DPD7, P0DPE1, P10938, P11086, P14061, P51656, P51657, P51840, P52785, P54777, Q02846, Q0V8J4, Q13608, Q1WNP0, Q2VPK5, Q561R2, Q5XIH9, Q643R3, Q6NVG1, Q6PAT0, Q6SZW1, Q6ZPS2, Q7TMC8, Q8IYX4, Q8IZ83, Q8IZY2, Q8K248, Q8N0W3, Q8N2G8, Q96EY9
Diamond homologs: A0KST2, A1V675, A3NBM7, A3NXG2, A4JCW0, A6QR56, A6T7T5, A6U6Y9, A6WST7, A9VMS6, A9VRG6, B0TU38, B1KDF2, B1YW19, B5F7J0, B5QWI8, B5RAZ9, B8CIT6, B8EBC2, C3MIE5, C6DKY5, F8JX40, O04895, O06837, O24174, O34660, P11884, P12693, P17202, P46368, P47738, P55653, P63938, P81178, P81406, P93338, P9WNY0, P9WNY1, Q04458, Q0BGV0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
138 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 96 |
| Likely benign | 12 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2584 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:49458480:CCCCA:C | acceptor_loss | 1.0000 |
| 19:49458481:CCCA:C | acceptor_loss | 1.0000 |
| 19:49458482:CCAG:C | acceptor_loss | 1.0000 |
| 19:49458585:ACAG:A | donor_loss | 1.0000 |
| 19:49458586:CAGGT:C | donor_loss | 1.0000 |
| 19:49458588:GGTAC:G | donor_loss | 1.0000 |
| 19:49458590:T:G | donor_loss | 1.0000 |
| 19:49459664:C:A | acceptor_gain | 1.0000 |
| 19:49459667:CAG:C | acceptor_loss | 1.0000 |
| 19:49459668:A:AG | acceptor_gain | 1.0000 |
| 19:49459668:AG:A | acceptor_gain | 1.0000 |
| 19:49459668:AGGCT:A | acceptor_gain | 1.0000 |
| 19:49459669:G:GC | acceptor_gain | 1.0000 |
| 19:49459669:GG:G | acceptor_gain | 1.0000 |
| 19:49459669:GGC:G | acceptor_gain | 1.0000 |
| 19:49459669:GGCT:G | acceptor_gain | 1.0000 |
| 19:49459669:GGCTG:G | acceptor_gain | 1.0000 |
| 19:49459818:G:GT | donor_gain | 1.0000 |
| 19:49459821:G:GT | donor_gain | 1.0000 |
| 19:49459847:GG:G | donor_gain | 1.0000 |
| 19:49459848:GG:G | donor_gain | 1.0000 |
| 19:49459849:G:GG | donor_gain | 1.0000 |
| 19:49459850:T:A | donor_loss | 1.0000 |
| 19:49462566:ACAG:A | acceptor_gain | 1.0000 |
| 19:49462567:CA:C | acceptor_loss | 1.0000 |
| 19:49462568:A:AG | acceptor_gain | 1.0000 |
| 19:49462568:A:C | acceptor_loss | 1.0000 |
| 19:49462568:AG:A | acceptor_gain | 1.0000 |
| 19:49462568:AGGGT:A | acceptor_gain | 1.0000 |
| 19:49462569:G:GC | acceptor_loss | 1.0000 |
AlphaMissense
5043 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:49464217:A:C | S429R | 0.987 |
| 19:49464219:T:A | S429R | 0.987 |
| 19:49464219:T:G | S429R | 0.987 |
| 19:49464226:A:C | S432R | 0.986 |
| 19:49464228:C:A | S432R | 0.986 |
| 19:49464228:C:G | S432R | 0.986 |
| 19:49468517:T:A | V692D | 0.981 |
| 19:49464223:T:A | W431R | 0.978 |
| 19:49464223:T:C | W431R | 0.978 |
| 19:49464443:A:T | N453I | 0.971 |
| 19:49468509:C:A | N689K | 0.970 |
| 19:49468509:C:G | N689K | 0.970 |
| 19:49464157:T:C | F409L | 0.969 |
| 19:49464159:C:A | F409L | 0.969 |
| 19:49464159:C:G | F409L | 0.969 |
| 19:49464434:T:A | V450D | 0.967 |
| 19:49468899:C:A | N720K | 0.965 |
| 19:49468899:C:G | N720K | 0.965 |
| 19:49470440:G:C | K794N | 0.965 |
| 19:49470440:G:T | K794N | 0.965 |
| 19:49470347:A:C | K763N | 0.964 |
| 19:49470347:A:T | K763N | 0.964 |
| 19:49463909:T:A | V385D | 0.961 |
| 19:49470319:T:A | V754D | 0.961 |
| 19:49462019:T:A | W299R | 0.958 |
| 19:49462019:T:C | W299R | 0.958 |
| 19:49464221:T:A | V430E | 0.957 |
| 19:49464444:C:A | N453K | 0.957 |
| 19:49464444:C:G | N453K | 0.957 |
| 19:49461716:T:A | N225K | 0.956 |
dbSNP variants (sampled 300 via entrez): RS1000161164 (19:49458767 C>T), RS1000334154 (19:49464204 C>A,T), RS1000374359 (19:49469077 T>C,G), RS1000386645 (19:49464345 C>G,T), RS1000478900 (19:49455976 C>A,T), RS1000550973 (19:49451803 CG>C), RS1001328367 (19:49468085 G>A), RS1001398124 (19:49470006 G>A,T), RS1001570566 (19:49463775 G>A), RS1001596848 (19:49454435 C>G), RS1001830450 (19:49460227 CTTTTGT>C), RS1001981964 (19:49452895 T>C), RS1002814981 (19:49469082 T>A,C), RS1002818901 (19:49467217 C>A,T), RS1002988743 (19:49451676 G>C)
Disease associations
OMIM: gene MIM:613358 | disease phenotypes: MIM:613722
GenCC curated gene-disease
Mondo (1): developmental and epileptic encephalopathy, 12 (MONDO:0013389)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001268_2 | Gout | 2.000000e-16 |
| GCST001269_1 | Serum uric acid levels | 5.000000e-21 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004761 | uric acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295896 (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 |
|---|---|---|---|---|
| 6.54 | Kd | 290.8 | nM | CHEMBL5653589 |
| 6.54 | ED50 | 290.8 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147838: Binding affinity to human ALDH16A1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2908 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, increases methylation | 3 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| Valproic Acid | affects expression, decreases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| sodium arsenate | increases expression | 1 |
| 1-benzylimidazole | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Coumestrol | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118735 | Binding | Binding affinity to ALDH16A1 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): developmental and epileptic encephalopathy, 12, gout