PAFAH1B3
gene geneOn this page
Summary
PAFAH1B3 (platelet activating factor acetylhydrolase 1b catalytic subunit 3, HGNC:8576) is a protein-coding gene on chromosome 19q13.1, encoding Platelet-activating factor acetylhydrolase IB subunit alpha1 (Q15102). Alpha1 catalytic subunit of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the action of PAF.
This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described.
Source: NCBI Gene 5050 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 45 total
- Druggable target: yes
- MANE Select transcript:
NM_002573
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8576 |
| Approved symbol | PAFAH1B3 |
| Name | platelet activating factor acetylhydrolase 1b catalytic subunit 3 |
| Location | 19q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000079462 |
| Ensembl biotype | protein_coding |
| OMIM | 603074 |
| Entrez | 5050 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 17 protein_coding, 1 retained_intron
ENST00000262890, ENST00000538771, ENST00000594989, ENST00000595530, ENST00000596265, ENST00000597333, ENST00000599778, ENST00000601865, ENST00000877854, ENST00000877855, ENST00000877856, ENST00000916656, ENST00000916657, ENST00000916658, ENST00000916659, ENST00000916660, ENST00000916661, ENST00000916662
RefSeq mRNA: 3 — MANE Select: NM_002573
NM_001145939, NM_001145940, NM_002573
CCDS: CCDS12602
Canonical transcript exons
ENST00000262890 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000709342 | 42299970 | 42300092 |
| ENSE00000897478 | 42302232 | 42302624 |
| ENSE00003566592 | 42301950 | 42302039 |
| ENSE00003785459 | 42300171 | 42300287 |
| ENSE00003909693 | 42297035 | 42297365 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 99.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.1591 / max 355.4254, expressed in 1795 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181176 | 9.8995 | 1590 |
| 181174 | 8.5434 | 1586 |
| 181179 | 3.3557 | 1446 |
| 181171 | 2.9530 | 829 |
| 181172 | 2.8497 | 1023 |
| 181173 | 2.1759 | 920 |
| 181177 | 1.5626 | 885 |
| 181175 | 0.9165 | 542 |
| 181178 | 0.9028 | 616 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 99.32 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.99 | gold quality |
| ventricular zone | UBERON:0003053 | 97.99 | gold quality |
| embryo | UBERON:0000922 | 97.01 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.63 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.86 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.82 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.76 | gold quality |
| cerebellum | UBERON:0002037 | 91.89 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.39 | gold quality |
| nucleus accumbens | UBERON:0001882 | 89.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.98 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.95 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.82 | gold quality |
| amygdala | UBERON:0001876 | 88.75 | gold quality |
| right frontal lobe | UBERON:0002810 | 88.54 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.48 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.30 | gold quality |
| cingulate cortex | UBERON:0003027 | 88.09 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.07 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.89 | gold quality |
| endometrium epithelium | UBERON:0004811 | 87.72 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.34 | gold quality |
| hypothalamus | UBERON:0001898 | 87.10 | gold quality |
| putamen | UBERON:0001874 | 87.08 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.93 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 86.88 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.47 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.45 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 86.38 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11121 | yes | 998.15 |
| E-HCAD-5 | yes | 42.81 |
| E-GEOD-134144 | yes | 29.78 |
| E-GEOD-125970 | yes | 16.88 |
| E-ANND-3 | yes | 7.27 |
| E-CURD-114 | yes | 6.87 |
| E-GEOD-93593 | no | 574.81 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 8)
- These results indicate an antagonistic effect of alpha1, alpha2 and Ndel1 for Lis1 binding, probably to modulate dynein functions in vivo. (PMID:19622634)
- intracellular type I PAF acetylhydrolase (PAFAH1B2 and PAFAH1B3) is the major aspirin hydrolase of human blood (PMID:21844189)
- PAFAH1B3 has been found to be differentially methylated in head and neck squamous cell carcinoma. (PMID:22461910)
- PAFAH1B3 as a critical metabolic node in breast cancer (PMID:24954006)
- PAFAH1B2 and 1B3 are important in maintaining cancer pathogenicity across a wide spectrum of cancer types. (PMID:25945974)
- [Correlation between PAFAH1B3 Expression Level and Risk of Disease Progression After Autologous Hematopoietic Stem Cell Transplantation in Multiple Myeloma Patients]. (PMID:37096518)
- PAFAH1B3 Regulates Papillary Thyroid Carcinoma Cell Proliferation and Metastasis by Affecting the EMT. (PMID:37102492)
- PAFAH1B3 is a KLF9 target gene that promotes proliferation and metastasis in pancreatic cancer. (PMID:38649699)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Pafah1b3 | ENSMUSG00000005447 |
| rattus_norvegicus | Pafah1b3 | ENSRNOG00000020481 |
| drosophila_melanogaster | Paf-AHalpha | FBGN0025809 |
Paralogs (2): ICE1 (ENSG00000164151), PAFAH1B2 (ENSG00000168092)
Protein
Protein identifiers
Platelet-activating factor acetylhydrolase IB subunit alpha1 — Q15102 (reviewed: Q15102)
Alternative names: PAF acetylhydrolase 29 kDa subunit, PAF-AH subunit gamma
All UniProt accessions (7): Q15102, A0A024R0L6, M0QXS6, M0QZT2, M0R1K3, M0R323, M0R389
UniProt curated annotations — full annotation on UniProt →
Function. Alpha1 catalytic subunit of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the action of PAF. The activity and substrate specificity of PAF-AH (I) are affected by its subunit composition. Both alpha1/alpha1 homodimer (PAFAH1B3/PAFAH1B3 homodimer) and alpha1/alpha2 heterodimer(PAFAH1B3/PAFAH1B2 heterodimer) hydrolyze 1-O-alkyl-2-acetyl-sn-glycero-3-phosphoric acid (AAGPA) more efficiently than PAF, but they have little hydrolytic activity towards 1-O-alkyl-2-acetyl-sn-glycero-3-phosphorylethanolamine (AAGPE). Plays an important role during the development of brain.
Subunit / interactions. Forms a catalytic dimer which is either homodimer (alpha1/alpha1 homodimer) or heterodimer with PAFAH1B2 (alpha1/alpha2 heterodimer). Component of the cytosolic (PAF-AH (I)) heterotetrameric enzyme, which is composed of PAFAH1B1 (beta), PAFAH1B2 (alpha2) and PAFAH1B3 (alpha1) subunits. The catalytic activity of the enzyme resides in the alpha1 (PAFAH1B3) and alpha2 (PAFAH1B2) subunits, whereas the beta subunit (PAFAH1B1) has regulatory activity. Trimer formation is not essential for the catalytic activity. Interacts with VLDLR; this interaction may modulate the Reelin pathway.
Subcellular location. Cytoplasm.
Tissue specificity. In the adult, expressed in brain, skeletal muscle, kidney, thymus, spleen, colon, testis, ovary and peripheral blood leukocytes. In the fetus, highest expression occurs in brain.
Activity regulation. Beta subunit (PAFAH1B1) inhibits the acetylhydrolase activity of the alpha1/alpha1 catalytic homodimer.
Miscellaneous. Originally the subunits of the type I platelet-activating factor (PAF) acetylhydrolase was named alpha (PAFAH1B1), beta (PAFAH1B2) and gamma (PAFAH1B3). Now these subunits have been renamed beta (PAFAH1B1), alpha2 (PAFAH1B2) and alpha1 (PAFAH1B3) respectively.
Similarity. Belongs to the ‘GDSL’ lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily.
RefSeq proteins (3): NP_001139411, NP_001139412, NP_002564* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013830 | SGNH_hydro | Domain |
| IPR036514 | SGNH_hydro_sf | Homologous_superfamily |
Pfam: PF13472
Catalyzed reactions (Rhea), 3 shown:
- a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = a 1-O-alkyl-sn-glycero-3-phosphocholine + acetate + H(+) (RHEA:17777)
- 1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O-hexadecyl-sn-glycero-3-phosphocholine + acetate + H(+) (RHEA:40479)
- 1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphate + H2O = 1-O-hexadecyl-sn-glycero-3-phosphate + acetate + H(+) (RHEA:41704)
UniProt features (8 total): active site 3, modified residue 2, initiator methionine 1, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15102-F1 | 95.20 | 0.92 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 47; 192; 195
Post-translational modifications (2): 2, 2
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6811436 | COPI-independent Golgi-to-ER retrograde traffic |
MSigDB gene sets: 223 (showing top):
RNGTGGGC_UNKNOWN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, HNF3ALPHA_Q6, SWEET_KRAS_ONCOGENIC_SIGNATURE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, KYNG_DNA_DAMAGE_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, REACTOME_MEMBRANE_TRAFFICKING, NFKB_Q6, PATIL_LIVER_CANCER, PUJANA_CHEK2_PCC_NETWORK, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, MODULE_118
GO Biological Process (4): lipid metabolic process (GO:0006629), spermatogenesis (GO:0007283), nervous system development (GO:0007399), lipid catabolic process (GO:0016042)
GO Molecular Function (8): 1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein-containing complex binding (GO:0044877), protein heterodimerization activity (GO:0046982), platelet-activating factor acetyltransferase activity (GO:0047179), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), 1-alkyl-2-acetylglycerophosphocholine esterase complex (GO:0008247), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Golgi-to-ER retrograde transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein dimerization activity | 2 |
| binding | 2 |
| primary metabolic process | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| system development | 1 |
| lipid metabolic process | 1 |
| catabolic process | 1 |
| carboxylic ester hydrolase activity | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| acetyltransferase activity | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| catalytic complex | 1 |
Protein interactions and networks
STRING
1046 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PAFAH1B3 | PAFAH1B1 | P43034 | 940 |
| PAFAH1B3 | PAFAH1B2 | P68402 | 807 |
| PAFAH1B3 | CLK2 | P49760 | 770 |
| PAFAH1B3 | KIF1A | Q12756 | 688 |
| PAFAH1B3 | NDE1 | Q9NXR1 | 651 |
| PAFAH1B3 | VAMP1 | P23763 | 640 |
| PAFAH1B3 | PRR19 | A6NJB7 | 629 |
| PAFAH1B3 | TMEM145 | Q8NBT3 | 580 |
| PAFAH1B3 | CLK3 | P49761 | 550 |
| PAFAH1B3 | ZNF574 | Q6ZN55 | 525 |
| PAFAH1B3 | C6orf136 | Q5SQH8 | 513 |
| PAFAH1B3 | LIPE | Q05469 | 511 |
| PAFAH1B3 | RABAC1 | Q9UI14 | 494 |
| PAFAH1B3 | ZNF764 | Q96H86 | 491 |
| PAFAH1B3 | VLDLR | P98155 | 484 |
IntAct
97 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PAFAH1B3 | PAFAH1B3 | psi-mi:“MI:0915”(physical association) | 0.830 |
| PAFAH1B3 | LNX1 | psi-mi:“MI:0915”(physical association) | 0.770 |
| PAFAH1B3 | SDCBP2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PAFAH1B2 | PAFAH1B3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| PAFAH1B2 | PAFAH1B1 | psi-mi:“MI:0914”(association) | 0.700 |
| PAFAH1B3 | PAFAH1B1 | psi-mi:“MI:0915”(physical association) | 0.640 |
| PAFAH1B3 | PAFAH1B1 | psi-mi:“MI:0914”(association) | 0.640 |
| PAFAH1B3 | FRD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRD1 | PAFAH1B3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAFAH1B3 | NIF3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAFAH1B3 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEI4 | PAFAH1B3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAFAH1B3 | CHMP7 | psi-mi:“MI:0915”(physical association) | 0.550 |
| CHMP7 | PAFAH1B3 | psi-mi:“MI:0915”(physical association) | 0.550 |
| VCAM1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| Pafah1b1 | EDIL3 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (95): PAFAH1B3 (Two-hybrid), PAFAH1B3 (Affinity Capture-MS), PAFAH1B1 (Affinity Capture-MS), PAFAH1B3 (Two-hybrid), LNX1 (Two-hybrid), PAFAH1B3 (Two-hybrid), CHMP7 (Two-hybrid), SDCBP2 (Two-hybrid), C14orf166 (Co-fractionation), LNX1 (Affinity Capture-Western), VARS (Co-fractionation), PAFAH1B3 (Affinity Capture-MS), PAFAH1B3 (Two-hybrid), PAFAH1B3 (Affinity Capture-MS), PAFAH1B3 (Affinity Capture-MS)
ESM2 similar proteins: A0A5F8AH41, A2BIR6, A5WVX1, B4Q1B6, O35263, O35264, O43252, O54820, P34913, P40935, P52788, P56192, P68401, P68402, P76092, Q06AU9, Q09LX1, Q13057, Q15102, Q29460, Q2T9L8, Q32KX8, Q3SZ16, Q3SZA5, Q3URQ7, Q4WF29, Q5R4G2, Q5R6X1, Q5XJ57, Q5ZMS2, Q60967, Q61205, Q61206, Q63HM1, Q68FL6, Q68LP1, Q6JQN1, Q6PFX8, Q6Q2C2, Q711G3
Diamond homologs: O35263, O35264, P68401, P68402, Q15102, Q29460, Q5R4G2, Q5R6X1, Q5ZMS2, Q61205, Q61206, Q9VXP4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 35 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
892 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:42299943:T:TA | donor_gain | 1.0000 |
| 19:42300088:ACAAT:A | acceptor_gain | 1.0000 |
| 19:42300089:CAAT:C | acceptor_gain | 1.0000 |
| 19:42300089:CAATC:C | acceptor_gain | 1.0000 |
| 19:42300090:AAT:A | acceptor_gain | 1.0000 |
| 19:42300090:AATCT:A | acceptor_loss | 1.0000 |
| 19:42300091:AT:A | acceptor_gain | 1.0000 |
| 19:42300091:ATCT:A | acceptor_loss | 1.0000 |
| 19:42300092:TCT:T | acceptor_loss | 1.0000 |
| 19:42300093:C:CC | acceptor_gain | 1.0000 |
| 19:42300093:C:CG | acceptor_loss | 1.0000 |
| 19:42300094:T:G | acceptor_loss | 1.0000 |
| 19:42300095:G:C | acceptor_gain | 1.0000 |
| 19:42300165:GCTCA:G | donor_loss | 1.0000 |
| 19:42300166:CTCAC:C | donor_loss | 1.0000 |
| 19:42300167:TCA:T | donor_loss | 1.0000 |
| 19:42300168:CA:C | donor_loss | 1.0000 |
| 19:42300169:A:C | donor_loss | 1.0000 |
| 19:42302035:TGGTG:T | acceptor_gain | 1.0000 |
| 19:42302036:GGTG:G | acceptor_gain | 1.0000 |
| 19:42302037:GTG:G | acceptor_gain | 1.0000 |
| 19:42302038:TG:T | acceptor_gain | 1.0000 |
| 19:42302039:GCT:G | acceptor_loss | 1.0000 |
| 19:42302040:C:CC | acceptor_gain | 1.0000 |
| 19:42302230:A:AC | donor_gain | 1.0000 |
| 19:42302231:C:CC | donor_gain | 1.0000 |
| 19:42302263:T:TA | donor_gain | 1.0000 |
| 19:42302500:GGAG:G | donor_gain | 1.0000 |
| 19:42302501:GAG:G | donor_gain | 1.0000 |
| 19:42302501:GAGG:G | donor_gain | 1.0000 |
AlphaMissense
1494 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:42301984:C:T | G45E | 0.999 |
| 19:42297191:G:C | H195D | 0.998 |
| 19:42297199:T:A | D192V | 0.998 |
| 19:42297200:C:G | D192H | 0.998 |
| 19:42301984:C:A | G45V | 0.998 |
| 19:42301985:C:A | G45W | 0.998 |
| 19:42297198:A:C | D192E | 0.997 |
| 19:42297198:A:T | D192E | 0.997 |
| 19:42297199:T:G | D192A | 0.997 |
| 19:42300063:G:C | N105K | 0.997 |
| 19:42300063:G:T | N105K | 0.997 |
| 19:42300073:C:A | G102V | 0.997 |
| 19:42300208:C:G | R83P | 0.997 |
| 19:42300244:C:T | G71D | 0.997 |
| 19:42300282:C:A | W58C | 0.997 |
| 19:42300282:C:G | W58C | 0.997 |
| 19:42300284:A:G | W58R | 0.997 |
| 19:42300284:A:T | W58R | 0.997 |
| 19:42301981:T:A | D46V | 0.997 |
| 19:42301990:A:G | F43S | 0.997 |
| 19:42301993:A:T | V42D | 0.997 |
| 19:42302243:A:G | W23R | 0.997 |
| 19:42302243:A:T | W23R | 0.997 |
| 19:42297189:A:C | H195Q | 0.996 |
| 19:42297189:A:T | H195Q | 0.996 |
| 19:42297220:A:T | I185N | 0.996 |
| 19:42300074:C:G | G102R | 0.996 |
| 19:42300082:A:T | V99D | 0.996 |
| 19:42300175:G:T | P94H | 0.996 |
| 19:42300233:C:G | D75H | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000004409 (19:42299219 C>A,G,T), RS1000202339 (19:42299624 T>C), RS1001223847 (19:42299835 C>G,T), RS1001405277 (19:42302645 C>G), RS1001438052 (19:42299823 T>C,G), RS1001438251 (19:42303064 G>T), RS1001576546 (19:42304110 T>A), RS1001994172 (19:42304289 A>G), RS1002277888 (19:42301073 C>T), RS1002281246 (19:42304506 A>C,G), RS1002491495 (19:42301363 C>T), RS1002995846 (19:42297709 G>A), RS1003075628 (19:42304156 C>G,T), RS1003105362 (19:42304392 G>A), RS1003846967 (19:42302414 G>C)
Disease associations
OMIM: gene MIM:603074 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): autism spectrum disorder (MONDO:0005258)
Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5108 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, affects binding, increases reaction | 3 |
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 3 |
| methylmercuric chloride | increases expression | 2 |
| bisphenol A | affects expression, increases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| TAK-243 | decreases sumoylation | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| deguelin | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| pyrachlostrobin | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2209088 | Binding | Inhibition of PAFAH1B3 binding to FP-biotin in [12C][14N]-lysine, arginine and [13C6][15N2]-lysine, arginine labeled HEK293T cells at 20 uM after 1 hr by isotopic activity-based protein profiling-MudPIT assay | Discovery and optimization of sulfonyl acrylonitriles as selective, covalent inhibitors of protein phosphatase methylesterase-1. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3D8 | Abcam HEK293T PAFAH1B3 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.