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CDS1

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Summary

CDS1 (CDP-diacylglycerol synthase 1, HGNC:1800) is a protein-coding gene on chromosome 4q21.23, encoding Phosphatidate cytidylyltransferase 1 (Q92903). Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol.

Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13.

Source: NCBI Gene 1040 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 70 total
  • MANE Select transcript: NM_001263

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:1800
Approved symbolCDS1
NameCDP-diacylglycerol synthase 1
Location4q21.23
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000163624
Ensembl biotypeprotein_coding
OMIM603548
Entrez1040

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 nonsense_mediated_decay

ENST00000295887, ENST00000511298, ENST00000891567, ENST00000891568, ENST00000891569, ENST00000891570, ENST00000891571, ENST00000930193, ENST00000930194, ENST00000959938

RefSeq mRNA: 1 — MANE Select: NM_001263 NM_001263

CCDS: CCDS3608

Canonical transcript exons

ENST00000295887 — 13 exons

ExonStartEnd
ENSE000010766508460424384604370
ENSE000010766528464083884640990
ENSE000010766558464302484643143
ENSE000010766568463526484635351
ENSE000010766618463892484638992
ENSE000010766628461939484619533
ENSE000010766648458312784583518
ENSE000010766658463385784633939
ENSE000012901698464855784651334
ENSE000015921358463181984631877
ENSE000017801278464522284645325
ENSE000036531178460942984609525
ENSE000036628538461756484617661

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 99.02.

FANTOM5 (CAGE): breadth broad, TPM avg 3.2348 / max 106.1848, expressed in 662 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
486292.0626527
486270.6196359
486280.3695236
486260.183180

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
bronchial epithelial cellCL:000232899.02gold quality
secondary oocyteCL:000065598.64gold quality
epithelium of bronchusUBERON:000203198.55gold quality
bronchusUBERON:000218598.02gold quality
caput epididymisUBERON:000435897.78gold quality
amniotic fluidUBERON:000017397.51gold quality
jejunal mucosaUBERON:000039997.42gold quality
oocyteCL:000002396.39gold quality
esophagus squamous epitheliumUBERON:000692096.15gold quality
mucosa of paranasal sinusUBERON:000503095.92gold quality
corpus epididymisUBERON:000435995.45gold quality
middle temporal gyrusUBERON:000277195.41gold quality
squamous epitheliumUBERON:000691495.05gold quality
nasal cavity epitheliumUBERON:000538494.67gold quality
Brodmann (1909) area 23UBERON:001355494.65gold quality
gingival epitheliumUBERON:000194994.54gold quality
gingivaUBERON:000182894.27gold quality
epithelium of nasopharynxUBERON:000195194.16gold quality
nasopharynxUBERON:000172894.14gold quality
colonic mucosaUBERON:000031793.59gold quality
oral cavityUBERON:000016793.57gold quality
mucosa of sigmoid colonUBERON:000499393.54gold quality
lateral nuclear group of thalamusUBERON:000273693.44gold quality
epithelium of esophagusUBERON:000197693.33gold quality
duodenumUBERON:000211493.18gold quality
tongue squamous epitheliumUBERON:000691993.06gold quality
olfactory segment of nasal mucosaUBERON:000538692.61gold quality
cervix squamous epitheliumUBERON:000692291.82gold quality
ponsUBERON:000098891.50gold quality
cauda epididymisUBERON:000436091.41gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-10287yes25.72
E-ANND-3yes15.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

163 targeting CDS1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-4262100.0073.263931
HSA-MIR-607799.9968.042299
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-428299.9975.366408
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-19A-3P99.9875.332762
HSA-MIR-19B-3P99.9875.442754
HSA-MIR-548N99.9871.944170
HSA-MIR-806899.9873.852376
HSA-MIR-477599.9875.006394
HSA-MIR-548P99.9872.253784
HSA-MIR-512-3P99.9767.351049
HSA-MIR-590-3P99.9674.346478
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-146A-5P99.9668.93988
HSA-MIR-146B-5P99.9669.13977
HSA-MIR-128-3P99.9571.172484
HSA-MIR-216A-3P99.9571.192505
HSA-MIR-548AB99.9571.313488
HSA-MIR-55999.9572.283609
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502

Literature-anchored findings (GeneRIF, showing 3)

  • distinct properties of the two isoforms of CDP-diacylglycerol synthase (PMID:25375833)
  • CDS1 and CDS2 are important novel regulators of lipid storage. (PMID:26946540)
  • CDP-DAG synthase 1 and 2 regulate lipid droplet growth through distinct mechanisms (PMID:31548309)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriocds1ENSDARG00000019549
mus_musculusCds1ENSMUSG00000029330
rattus_norvegicusCds1ENSRNOG00000002142
drosophila_melanogasterCdsFBGN0010350
caenorhabditis_elegansWBGENE00016384

Paralogs (1): CDS2 (ENSG00000101290)

Protein

Protein identifiers

Phosphatidate cytidylyltransferase 1 — Q92903 (reviewed: Q92903)

Alternative names: CDP-DAG synthase 1, CDP-DG synthase 1, CDP-diacylglycerol synthase 1, CDP-diglyceride pyrophosphorylase 1, CDP-diglyceride synthase 1, CTP:phosphatidate cytidylyltransferase 1

All UniProt accessions (2): Q92903, D6RGC8

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol. Exhibits almost no acyl chain preference for PA, showing no discrimination for the sn-1/sn-2 acyl chain composition of PAs. Plays an important role in regulating the growth of lipid droplets which are storage organelles at the center of lipid and energy homeostasis. Positively regulates the differentiation and development of adipocytes.

Subunit / interactions. Homodimer. Interacts with FOS; this interaction may enhance catalytic activity.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in adult tissues such as placenta, brain, small intestine, ovary, testis and prostate. Highly expressed in fetal kidney, lung and brain. Lower level in fetal liver.

Activity regulation. Inhibited by its anionic phospholipid end products, with phosphatidylinositol-(4,5)- bisphosphate showing the strongest inhibition.

Pathway. Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 3/3.

Similarity. Belongs to the CDS family.

RefSeq proteins (1): NP_001254* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000374PC_transFamily
IPR016720PC_Trfase_eukFamily

Pfam: PF01148

Enzyme classification (BRENDA):

  • EC 2.7.7.41 — phosphatidate cytidylyltransferase (BRENDA: 29 organisms, 110 substrates, 66 inhibitors, 36 Km, 10 kcat entries)

Substrate kinetics (BRENDA)

9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
CTP0.076–19
PHOSPHATIDIC ACID0.08–0.37
PHOSPHATIDATE0.067–2.56
DCTP0.26–0.94
1,2-DIOLEOYL-SN-GLYCEROL 3-PHOSPHATE0.1141
1-PALMITOYL-2-[12-[(7-NITRO-2-1,3-BENZOXADIAZOL-0.0671
1-STEAROYL-2-ARACHIDONOYL-SN-GLYCERO-3-PHOSPHATE0.1021
1-STEAROYL-2-ARACHIDONOYL-SN-PHOSPHATIDIC ACID—0
1-STEAROYL-2-LINOLEOYL-SN-PHOSPHATIDIC ACID—0

Catalyzed reactions (Rhea), 9 shown:

  • a 1,2-diacyl-sn-glycero-3-phosphate + CTP + H(+) = a CDP-1,2-diacyl-sn-glycerol + diphosphate (RHEA:16229)
  • 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + CTP + H(+) = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-cytidine-5’-diphosphate + diphosphate (RHEA:45648)
  • 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + CTP + H(+) = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-cytidine-5’-diphosphate + diphosphate (RHEA:45652)
  • 1,2-di-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphate + CTP + H(+) = 1,2-di-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-cytidine-5’-diphosphate + diphosphate (RHEA:45656)
  • 1-octadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphate + CTP + H(+) = 1-octadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-cytidine-5’-diphosphate + diphosphate (RHEA:45660)
  • 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CTP + H(+) = 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-cytidine-5’-diphosphate + diphosphate (RHEA:45664)
  • 1-octadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphate + CTP + H(+) = 1-octadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-cytidine-5’-diphosphate + diphosphate (RHEA:45668)
  • 1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphate + CTP + H(+) = 1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-cytidine-5’-diphosphate + diphosphate (RHEA:45672)
  • 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CTP + H(+) = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-cytidine-5’-diphosphate + diphosphate (RHEA:45676)

UniProt features (15 total): transmembrane region 6, modified residue 3, sequence variant 2, chain 1, sequence conflict 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q92903-F181.370.49

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 (3): 35, 37, 7

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

IDPathway
R-HSA-1483226Synthesis of PI
R-HSA-1430728Metabolism
R-HSA-1483206Glycerophospholipid biosynthesis
R-HSA-1483257Phospholipid metabolism
R-HSA-556833Metabolism of lipids

MSigDB gene sets: 213 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_BIOSYNTHETIC_PROCESS, JAEGER_METASTASIS_DN, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_PHOTOTRANSDUCTION, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS

GO Biological Process (9): phosphatidylinositol biosynthetic process (GO:0006661), signal transduction (GO:0007165), phototransduction (GO:0007602), CDP-diacylglycerol biosynthetic process (GO:0016024), positive regulation of fat cell differentiation (GO:0045600), lipid droplet formation (GO:0140042), lipid metabolic process (GO:0006629), CDP-choline pathway (GO:0006657), phospholipid biosynthetic process (GO:0008654)

GO Molecular Function (6): diacylglycerol cholinephosphotransferase activity (GO:0004142), phosphatidate cytidylyltransferase activity (GO:0004605), protein binding (GO:0005515), transferase activity (GO:0016740), transferase activity, transferring phosphorus-containing groups (GO:0016772), nucleotidyltransferase activity (GO:0016779)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
Glycerophospholipid biosynthesis1
Phospholipid metabolism1
Metabolism of lipids1
Metabolism1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
biosynthetic process1
phosphatidylinositol metabolic process1
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
signal transduction1
detection of light stimulus1
CDP-diacylglycerol metabolic process1
glycerophospholipid biosynthetic process1
fat cell differentiation1
positive regulation of cell differentiation1
regulation of fat cell differentiation1
lipid storage1
lipid droplet organization1
membraneless organelle assembly1
primary metabolic process1
choline kinase activity1
diacylglycerol cholinephosphotransferase activity1
phosphatidylcholine biosynthetic process1
phospholipid metabolic process1
lipid biosynthetic process1
organophosphate biosynthetic process1
CDP-alcohol phosphatidyltransferase activity1
cytidylyltransferase activity1
binding1
catalytic activity1
transferase activity1
transferase activity, transferring phosphorus-containing groups1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
cellular anatomical structure1

Protein interactions and networks

STRING

832 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CDS1TAMM41Q96BW9985
CDS1CDIPTO14735716
CDS1PGS1Q32NB8713
CDS1RHOP08100578
CDS1BMP8AQ7Z5Y6571
CDS1RPE65Q16518525
CDS1CRLS1Q9UJA2525
CDS1PISDQ9UG56509
CDS1BMP8BP34820505
CDS1PEMTQ9UBM1484
CDS1PLPP2O43688482
CDS1SELENOIQ9C0D9477
CDS1PDE6BP35913447
CDS1ARR3P36575437
CDS1TAFAZZINQ16635437

IntAct

81 interactions, top by confidence:

ABTypeScore
CDS1CDS2psi-mi:“MI:0914”(association)0.670
CDS1CDS2psi-mi:“MI:0915”(physical association)0.670
SCN2BEXOC5psi-mi:“MI:0914”(association)0.640
VSIG1TTI1psi-mi:“MI:0914”(association)0.640
NIPAL1ESYT2psi-mi:“MI:0914”(association)0.640
CDS1TMEM237psi-mi:“MI:0915”(physical association)0.560
CDS1SLC13A4psi-mi:“MI:0915”(physical association)0.560
CDS1UBE2J1psi-mi:“MI:0915”(physical association)0.560
RETREG3CDS1psi-mi:“MI:0915”(physical association)0.560
SLC10A6CDS1psi-mi:“MI:0915”(physical association)0.560
FAM209ACDS1psi-mi:“MI:0915”(physical association)0.560
VSIG2TTI1psi-mi:“MI:0914”(association)0.530
CDS1TSPAN6psi-mi:“MI:0914”(association)0.530
MUC15CDS1psi-mi:“MI:0914”(association)0.530
CXCR4TMEM120Bpsi-mi:“MI:0914”(association)0.530
YIPF3TMEM120Bpsi-mi:“MI:0914”(association)0.530
HTR2CKLRG2psi-mi:“MI:0914”(association)0.530
SLC22A9GPR89Apsi-mi:“MI:0914”(association)0.530
VSIG1TNPO2psi-mi:“MI:0914”(association)0.530
SCAMP2SCAMP3psi-mi:“MI:0914”(association)0.530
SLC6A8ILVBLpsi-mi:“MI:0914”(association)0.530
CDS1APODpsi-mi:“MI:0915”(physical association)0.400
YIPF3TMEM223psi-mi:“MI:0914”(association)0.350
VIPR2C15orf61psi-mi:“MI:0914”(association)0.350
GRPRGPR89Apsi-mi:“MI:0914”(association)0.350
SLC22A9GPR89Apsi-mi:“MI:0914”(association)0.350
CDS2PGRMC1psi-mi:“MI:0914”(association)0.350
TTYH1TMEM223psi-mi:“MI:0914”(association)0.350

BioGRID (84): CDS1 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), SNX27 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), REEP6 (Affinity Capture-MS), TSPAN6 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), CDS1 (Affinity Capture-MS), ITGB1 (Affinity Capture-MS)

ESM2 similar proteins: A0JNC1, A2VE61, A7XZ53, B1H3H9, D3ZEH5, F4HXY7, O35052, O95674, P48651, P98191, Q00576, Q01685, Q0JR55, Q0VCK9, Q28CY9, Q28H54, Q2KHY9, Q5EA65, Q5N8Q3, Q5R7B1, Q5U239, Q5ZKD1, Q5ZKJ0, Q5ZM65, Q6AXM5, Q6DD44, Q6DED0, Q6I628, Q7ZYQ3, Q803C9, Q8BGS7, Q8BXA5, Q8CIF6, Q8NBJ9, Q91XU8, Q91ZQ0, Q92903, Q96KA5, Q99KU0, Q99L43

Diamond homologs: A0JNC1, O04928, O04940, O35052, O49639, O67292, O95674, P0ABG1, P0ABG2, P0ABG3, P38221, P53439, P56079, P75160, P98191, Q1PE48, Q49433, Q55D90, Q68WV5, Q91XU8, Q92903, Q95ZE3, Q99L43, Q9P381, Q9X1B7, P73548, Q94A03, P76091, Q1RII7, Q92I31, Q9ZDA8, Q4ULR7, O25004, O31752, P0C102, P44937, P63759, P9WPF6, P9WPF7, Q2YRP9

SIGNOR signaling

3 interactions.

AEffectBMechanism
ATRup-regulatesCDS1
CDS1up-regulatesCDP-diacylglycerol(2-)“chemical modification”
CDS1“down-regulates quantity”“phosphatidic acid”“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 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:

PathwayPartnersFoldFDR
R-HSA-425366627.9×9e-06
SLC-mediated transmembrane transport812.1×2e-05
Transport of small molecules95.8×8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

70 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance44
Likely benign6
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

3030 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:84635299:A:CD253A1.000
4:84635299:A:GD253G1.000
4:84635299:A:TD253V1.000
4:84635300:C:AD253E1.000
4:84635300:C:GD253E1.000
4:84635320:G:AG260E1.000
4:84635344:T:CL268S1.000
4:84638948:G:AG279R1.000
4:84638948:G:CG279R1.000
4:84643112:C:AA374D1.000
4:84643118:G:AG376E1.000
4:84643123:A:GK378E1.000
4:84643124:A:TK378I1.000
4:84643125:A:CK378N1.000
4:84643125:A:TK378N1.000
4:84643127:G:CR379T1.000
4:84643128:A:CR379S1.000
4:84643128:A:TR379S1.000
4:84645225:T:CF386L1.000
4:84645227:T:AF386L1.000
4:84645227:T:GF386L1.000
4:84645261:G:CD398H1.000
4:84645262:A:CD398A1.000
4:84645262:A:GD398G1.000
4:84645262:A:TD398V1.000
4:84645263:C:AD398E1.000
4:84645263:C:GD398E1.000
4:84645271:A:CD401A1.000
4:84645271:A:TD401V1.000
4:84645274:G:AC402Y1.000

dbSNP variants (sampled 300 via entrez): RS10000060 (4:84620245 T>A,C,G), RS1000006843 (4:84593285 A>G), RS1000015301 (4:84586435 A>G), RS1000021239 (4:84627378 G>T), RS1000029003 (4:84591623 C>T), RS1000106656 (4:84585798 T>C), RS1000183194 (4:84599651 A>G), RS1000296451 (4:84599251 C>T), RS1000344558 (4:84614340 T>C), RS1000389332 (4:84608577 G>C), RS1000528239 (4:84592980 A>G), RS1000549971 (4:84640404 C>T), RS1000560802 (4:84627715 T>G), RS1000561680 (4:84597007 C>T), RS10006466 (4:84624283 A>C)

Disease associations

OMIM: gene MIM:603548 | 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):

StudyTraitp-value
GCST003073_12Cerebral amyloid deposition (PET imaging)3.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0007707cerebral amyloid deposition measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, affects cotreatment, increases expression8
trichostatin Aincreases expression, affects cotreatment3
mercuric bromideincreases expression, affects cotreatment2
Calcitriolincreases expression2
Doxorubicinaffects expression, decreases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
aristolochic acid Idecreases expression1
dicrotophosdecreases expression1
propionaldehydeincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arsenitedecreases expression1
butyraldehydeincreases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, decreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment, decreases expression1
CGP 52608affects binding, increases reaction1
2-palmitoylglycerolincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
ICG 001increases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression1
Temozolomideincreases expression1
Sunitinibincreases expression1
Arsenic Trioxideincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Benzo(a)pyrenedecreases methylation1
Coumestrolaffects cotreatment, decreases expression1
Estradioldecreases expression1
Leadaffects expression1
Lipopolysaccharidesdecreases expression, affects response to substance, increases expression, affects cotreatment1
Methotrexateincreases expression1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_SI61HAP1 CDS1 (-)Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot