MACO1
gene geneOn this page
Also known as FLJ10747
Summary
MACO1 (macoilin 1, HGNC:25572) is a protein-coding gene on chromosome 1p36.11, encoding Macoilin (Q8N5G2). Plays a role in the regulation of neuronal activity.
Predicted to enable microtubule binding activity. Involved in neuronal signal transduction. Located in rough endoplasmic reticulum membrane.
Source: NCBI Gene 55219 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 65 total
- Druggable target: yes
- MANE Select transcript:
NM_018202
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25572 |
| Approved symbol | MACO1 |
| Name | macoilin 1 |
| Location | 1p36.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10747 |
| Ensembl gene | ENSG00000204178 |
| Ensembl biotype | protein_coding |
| OMIM | 610301 |
| Entrez | 55219 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000374343, ENST00000399766, ENST00000470035, ENST00000647928, ENST00000897263, ENST00000897264, ENST00000897265, ENST00000897266, ENST00000897267, ENST00000897268
RefSeq mRNA: 2 — MANE Select: NM_018202
NM_001282564, NM_018202
CCDS: CCDS30638, CCDS60034
Canonical transcript exons
ENST00000374343 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001463214 | 25498264 | 25500209 |
| ENSE00001463216 | 25491410 | 25491584 |
| ENSE00001463217 | 25489173 | 25489293 |
| ENSE00001463219 | 25485613 | 25485795 |
| ENSE00001463220 | 25484116 | 25484274 |
| ENSE00001463223 | 25458391 | 25458892 |
| ENSE00001463224 | 25456653 | 25456831 |
| ENSE00001463228 | 25448808 | 25448934 |
| ENSE00001463230 | 25446762 | 25446903 |
| ENSE00001938711 | 25430897 | 25431178 |
| ENSE00003573767 | 25454259 | 25454382 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 94.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.2602 / max 314.7606, expressed in 1810 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1502 | 11.1401 | 1788 |
| 1503 | 4.6435 | 1636 |
| 1504 | 0.7432 | 383 |
| 1505 | 0.5981 | 265 |
| 1501 | 0.1352 | 27 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 94.82 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 93.63 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.57 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.27 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.14 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.98 | gold quality |
| body of pancreas | UBERON:0001150 | 90.62 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.97 | gold quality |
| tendon | UBERON:0000043 | 89.87 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.86 | gold quality |
| muscle of leg | UBERON:0001383 | 89.63 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.42 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.16 | gold quality |
| biceps brachii | UBERON:0001507 | 88.96 | gold quality |
| pancreas | UBERON:0001264 | 88.84 | gold quality |
| liver | UBERON:0002107 | 88.39 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.13 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.11 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.08 | gold quality |
| muscle organ | UBERON:0001630 | 87.69 | gold quality |
| cerebellum | UBERON:0002037 | 87.63 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 86.96 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.79 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.73 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.60 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.51 | gold quality |
| adrenal gland | UBERON:0002369 | 86.16 | gold quality |
| right adrenal gland | UBERON:0001233 | 86.05 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 86.01 | gold quality |
| esophagus mucosa | UBERON:0002469 | 85.90 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
106 targeting MACO1, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| 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-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
Literature-anchored findings (GeneRIF, showing 1)
- these results indicate that PAK4 confers CDDP resistance via the activation of MEK/ERK and PI3K/Akt pathways. PAK4 and PI3K/Akt pathways can reciprocally activate each other. (PMID:27919029)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkey-12h9.6 | ENSDARG00000056092 |
| mus_musculus | Maco1 | ENSMUSG00000028826 |
| rattus_norvegicus | Maco1 | ENSRNOG00000056156 |
| drosophila_melanogaster | bif | FBGN0014133 |
| drosophila_melanogaster | CG30389 | FBGN0050389 |
| caenorhabditis_elegans | maco-1 | WBGENE00017066 |
Protein
Protein identifiers
Macoilin — Q8N5G2 (reviewed: Q8N5G2)
Alternative names: Macoilin-1, Transmembrane protein 57
All UniProt accessions (2): A0A3B3ITD2, Q8N5G2
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of neuronal activity.
Subcellular location. Nucleus membrane. Cell projection. Axon. Rough endoplasmic reticulum membrane.
Similarity. Belongs to the macoilin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N5G2-1 | 1 | yes |
| Q8N5G2-2 | 2 | |
| Q8N5G2-3 | 3 |
RefSeq proteins (2): NP_001269493, NP_060672* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019130 | Macoilin | Family |
Pfam: PF09726
UniProt features (22 total): transmembrane region 4, modified residue 4, glycosylation site 4, splice variant 3, region of interest 3, compositionally biased region 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N5G2-F1 | 66.84 | 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 (4): 305, 332, 631, 634
Glycosylation sites (4): 324, 340, 452, 655
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-8980692 | RHOA GTPase cycle |
| R-HSA-9013106 | RHOC GTPase cycle |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 206 (showing top):
FREAC2_01, MAZ_Q6, MEF2_02, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, GOBP_TAXIS, CATRRAGC_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, HIF1_Q3, NRF2_Q4, GOBP_HEAD_DEVELOPMENT, ATF4_Q2, AACTTT_UNKNOWN, P300_01
GO Biological Process (3): chemotaxis (GO:0006935), brain development (GO:0007420), neuronal signal transduction (GO:0023041)
GO Molecular Function (3): microtubule binding (GO:0008017), molecular_function (GO:0003674), protein binding (GO:0005515)
GO Cellular Component (10): nucleus (GO:0005634), axon (GO:0030424), rough endoplasmic reticulum membrane (GO:0030867), nuclear membrane (GO:0031965), neuron projection terminus (GO:0044306), synapse (GO:0045202), endoplasmic reticulum (GO:0005783), membrane (GO:0016020), cell projection (GO:0042995), neuron projection (GO:0043005)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 2 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 2 |
| neuron projection | 2 |
| response to chemical | 1 |
| taxis | 1 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| signal transduction | 1 |
| tubulin binding | 1 |
| binding | 1 |
| endoplasmic reticulum membrane | 1 |
| rough endoplasmic reticulum | 1 |
| bounding membrane of organelle | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| cell junction | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
662 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MACO1 | SYN1 | P17600 | 744 |
| MACO1 | RSRP1 | Q9BUV0 | 659 |
| MACO1 | TMEM50A | O95807 | 547 |
| MACO1 | RHCE | P18577 | 545 |
| MACO1 | YPEL4 | Q96NS1 | 499 |
| MACO1 | SYF2 | O95926 | 493 |
| MACO1 | RIC3 | Q7Z5B4 | 484 |
| MACO1 | MEMO1 | Q9Y316 | 446 |
| MACO1 | DEDD2 | Q8WXF8 | 439 |
| MACO1 | MYBPHL | A2RUH7 | 422 |
| MACO1 | CTCF | P49711 | 417 |
| MACO1 | GALNT5 | Q7Z7M9 | 414 |
| MACO1 | UBL4B | Q8N7F7 | 412 |
| MACO1 | RANBP10 | Q6VN20 | 411 |
| MACO1 | TBC1D15 | Q8TC07 | 401 |
IntAct
173 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MACO1 | CCN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MACO1 | POTEB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MACO1 | MEI4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE2C | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCN3 | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP5-7 | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MACO1 | CRCT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE1D | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP5-2 | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE1E | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE1F | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE3A | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MACO1 | TMEM190 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE3E | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA1 | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MACO1 | LINGO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMCP | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE1C | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POTEB3 | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MACO1 | ZNF655 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MACO1 | NR4A3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEI4 | MACO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PCDHAC2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (250): TMEM57 (Affinity Capture-MS), TMEM57 (Affinity Capture-MS), TMEM57 (Affinity Capture-MS), TMEM57 (Biochemical Activity), TMEM57 (Proximity Label-MS), TMEM57 (Proximity Label-MS), TMEM57 (Proximity Label-MS), TMEM57 (Affinity Capture-MS), TMEM57 (Affinity Capture-MS), TMEM57 (Affinity Capture-MS), TMEM57 (Affinity Capture-MS), TMEM57 (Affinity Capture-MS), TMEM57 (Affinity Capture-MS), TMEM57 (Proximity Label-MS), TMEM57 (Affinity Capture-MS)
ESM2 similar proteins: A1Z7Z9, A9UM82, G5EEK3, O14490, P11929, P97836, Q15007, Q2KN93, Q2KN94, Q2KN95, Q2KN96, Q2KN97, Q2KN98, Q2KN99, Q2KNA0, Q2KNA1, Q2TLY1, Q2TLY2, Q2TLZ1, Q2TLZ2, Q2TLZ3, Q2TLZ4, Q2TLZ5, Q3UIJ9, Q4KLT6, Q4V7D3, Q5EB94, Q5M775, Q5NVC2, Q5SXY1, Q60JJ0, Q60MF5, Q69YQ0, Q6P4K5, Q7SXL7, Q7TQE6, Q7YZA2, Q86W92, Q8C8U0, Q8N5G2
Diamond homologs: P91193, Q2TLY1, Q2TLY2, Q2TLZ1, Q2TLZ2, Q2TLZ3, Q2TLZ4, Q2TLZ5, Q4V7D3, Q7TQE6, Q8N5G2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 165 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 |
|---|---|---|---|
| Formation of the cornified envelope | 7 | 6.8× | 9e-03 |
| Keratinization | 9 | 5.5× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| keratinization | 7 | 12.6× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2004 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:25431176:CAGGT:C | donor_loss | 1.0000 |
| 1:25431177:AGGT:A | donor_loss | 1.0000 |
| 1:25431179:G:GC | donor_loss | 1.0000 |
| 1:25431180:T:G | donor_loss | 1.0000 |
| 1:25446760:A:AG | acceptor_gain | 1.0000 |
| 1:25446761:G:GG | acceptor_gain | 1.0000 |
| 1:25446761:GT:G | acceptor_gain | 1.0000 |
| 1:25446761:GTAC:G | acceptor_gain | 1.0000 |
| 1:25454257:A:AG | acceptor_gain | 1.0000 |
| 1:25454258:G:GG | acceptor_gain | 1.0000 |
| 1:25454258:GAAA:G | acceptor_gain | 1.0000 |
| 1:25456651:A:AG | acceptor_gain | 1.0000 |
| 1:25456652:G:GG | acceptor_gain | 1.0000 |
| 1:25456652:GT:G | acceptor_gain | 1.0000 |
| 1:25456652:GTAT:G | acceptor_gain | 1.0000 |
| 1:25456652:GTATT:G | acceptor_gain | 1.0000 |
| 1:25484112:CTA:C | acceptor_loss | 1.0000 |
| 1:25484114:A:AC | acceptor_loss | 1.0000 |
| 1:25484114:A:AG | acceptor_gain | 1.0000 |
| 1:25484114:AGGCT:A | acceptor_gain | 1.0000 |
| 1:25484115:G:GA | acceptor_loss | 1.0000 |
| 1:25484115:G:GG | acceptor_gain | 1.0000 |
| 1:25484115:GGCTG:G | acceptor_gain | 1.0000 |
| 1:25484270:AACAA:A | donor_gain | 1.0000 |
| 1:25484271:ACAA:A | donor_gain | 1.0000 |
| 1:25484272:CAA:C | donor_gain | 1.0000 |
| 1:25484273:AA:A | donor_gain | 1.0000 |
| 1:25484274:AG:A | donor_loss | 1.0000 |
| 1:25484275:G:C | donor_loss | 1.0000 |
| 1:25484275:G:GG | donor_gain | 1.0000 |
AlphaMissense
4409 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:25431135:C:A | R13S | 1.000 |
| 1:25446793:T:A | W38R | 1.000 |
| 1:25446793:T:C | W38R | 1.000 |
| 1:25446814:G:C | D45H | 1.000 |
| 1:25446833:G:C | R51T | 1.000 |
| 1:25446833:G:T | R51I | 1.000 |
| 1:25446847:T:A | W56R | 1.000 |
| 1:25446847:T:C | W56R | 1.000 |
| 1:25446860:T:C | L60P | 1.000 |
| 1:25448880:T:A | W99R | 1.000 |
| 1:25448880:T:C | W99R | 1.000 |
| 1:25448893:C:A | A103D | 1.000 |
| 1:25448896:C:A | A104D | 1.000 |
| 1:25448898:A:C | S105R | 1.000 |
| 1:25448900:C:A | S105R | 1.000 |
| 1:25448900:C:G | S105R | 1.000 |
| 1:25448910:T:A | W109R | 1.000 |
| 1:25448910:T:C | W109R | 1.000 |
| 1:25454291:T:A | W128R | 1.000 |
| 1:25454291:T:C | W128R | 1.000 |
| 1:25454373:C:A | A155D | 1.000 |
| 1:25454376:C:A | A156D | 1.000 |
| 1:25456657:G:A | G160R | 1.000 |
| 1:25456657:G:C | G160R | 1.000 |
| 1:25456657:G:T | G160W | 1.000 |
| 1:25456658:G:A | G160E | 1.000 |
| 1:25456749:C:A | N190K | 1.000 |
| 1:25456749:C:G | N190K | 1.000 |
| 1:25456766:T:C | L196P | 1.000 |
| 1:25456769:T:C | L197P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000027457 (1:25473387 T>C), RS1000035283 (1:25453247 C>T), RS1000119056 (1:25487758 C>G,T), RS1000136193 (1:25453771 T>A), RS1000141693 (1:25466704 A>G), RS1000178436 (1:25477810 C>T), RS1000188058 (1:25435334 A>G), RS1000204440 (1:25487430 G>A), RS1000251887 (1:25478061 A>T), RS1000280780 (1:25494142 G>A,T), RS1000298179 (1:25439253 A>G), RS1000357654 (1:25479796 T>A), RS1000392691 (1:25439419 A>G), RS1000415051 (1:25484631 A>G), RS1000481582 (1:25435779 G>A)
Disease associations
OMIM: gene MIM:610301 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000285_9 | Cholesterol, total | 5.000000e-10 |
| GCST000759_33 | LDL cholesterol | 1.000000e-10 |
| GCST000760_48 | Cholesterol, total | 4.000000e-11 |
| GCST001120_4 | Erythrocyte sedimentation rate | 5.000000e-13 |
| GCST006612_48 | LDL cholesterol | 6.000000e-12 |
| GCST006614_112 | Total cholesterol levels | 6.000000e-11 |
| GCST008077_22 | LDL cholesterol levels | 3.000000e-07 |
| GCST008077_69 | LDL cholesterol levels | 3.000000e-09 |
| GCST008078_10 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 8.000000e-16 |
| GCST008078_69 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 9.000000e-21 |
| GCST008079_144 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 9.000000e-20 |
| GCST008079_15 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 3.000000e-16 |
| GCST008086_41 | LDL cholesterol levels in current drinkers | 5.000000e-11 |
| GCST008086_55 | LDL cholesterol levels in current drinkers | 8.000000e-13 |
| GCST009366_56 | LDL cholesterol levels x long total sleep time interaction (2df test) | 1.000000e-12 |
| GCST010204_95 | Low density lipoprotein cholesterol levels | 4.000000e-36 |
| GCST010243_184 | Apolipoprotein B levels | 4.000000e-42 |
| GCST010245_195 | LDL cholesterol levels | 2.000000e-35 |
| GCST011347_1 | Low density lipoprotein cholesterol levels | 5.000000e-09 |
| GCST90002387_193 | Immature fraction of reticulocytes | 1.000000e-55 |
| GCST90002396_120 | Mean reticulocyte volume | 2.000000e-17 |
| GCST90002397_620 | Mean spheric corpuscular volume | 7.000000e-24 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004574 | total cholesterol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067170 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs10903129 | MACO1 | 0.00 | 0 |
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 |
|---|---|---|---|---|
| 7.07 | Kd | 84.92 | nM | CHEMBL3752910 |
| 7.04 | ED50 | 91.96 | 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 | 2149955: Binding affinity to human TMEM57 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0849 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| aminomethylphosphonic acid (AMPA) | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Glyphosate | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Calcitriol | increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Naled | affects expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tunicamycin | increases expression | 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 |
|---|---|---|---|
| CHEMBL5652997 | Binding | Binding affinity to human TMEM57 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)
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.