SERPINA3

Summary

SERPINA3 (serpin family A member 3, HGNC:16) is a protein-coding gene on chromosome 14q32.13, encoding Alpha-1-antichymotrypsin (P01011). Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.

The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein’s sequence have been implicated in Alzheimer’s disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease.

Source: NCBI Gene 12 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 119 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001085

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16
Approved symbol	SERPINA3
Name	serpin family A member 3
Location	14q32.13
Locus type	gene with protein product
Status	Approved
Aliases	ACT
Ensembl gene	ENSG00000196136
Ensembl biotype	protein_coding
OMIM	107280
Entrez	12

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 26 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000393078, ENST00000393080, ENST00000467132, ENST00000482740, ENST00000485588, ENST00000555820, ENST00000556388, ENST00000556968, ENST00000621603, ENST00000890363, ENST00000890364, ENST00000890365, ENST00000890366, ENST00000890367, ENST00000890368, ENST00000890369, ENST00000890370, ENST00000890371, ENST00000890372, ENST00000890373, ENST00000890374, ENST00000890375, ENST00000890376, ENST00000890377, ENST00000890378, ENST00000890379, ENST00000954490, ENST00000954491, ENST00000954492

RefSeq mRNA: 4 — MANE Select: NM_001085 NM_001085, NM_001384672, NM_001384673, NM_001384674

CCDS: CCDS32150

Canonical transcript exons

ENST00000393078 — 5 exons

Exon	Start	End
ENSE00001900184	94612391	94612447
ENSE00003802109	94619195	94619468
ENSE00003808452	94622341	94622491
ENSE00003809993	94614434	94615084
ENSE00003896605	94623611	94624053

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 99.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 222.2107 / max 64819.0898, expressed in 968 samples.

FANTOM5 promoters (21 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141254	217.7435	965
141256	0.9637	183
141263	0.5607	61
141262	0.4945	97
141273	0.4503	119
141265	0.2945	95
141260	0.2387	70
141261	0.1917	43
141267	0.1886	58
141274	0.1744	63

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.82	gold quality
liver	UBERON:0002107	99.79	gold quality
body of pancreas	UBERON:0001150	99.75	gold quality
islet of Langerhans	UBERON:0000006	99.73	gold quality
mucosa of stomach	UBERON:0001199	99.55	gold quality
pancreas	UBERON:0001264	99.32	gold quality
left coronary artery	UBERON:0001626	99.10	gold quality
right coronary artery	UBERON:0001625	98.90	gold quality
gall bladder	UBERON:0002110	98.73	gold quality
left uterine tube	UBERON:0001303	98.47	gold quality
right lung	UBERON:0002167	98.02	gold quality
right ovary	UBERON:0002118	98.01	gold quality
right atrium auricular region	UBERON:0006631	97.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.81	gold quality
minor salivary gland	UBERON:0001830	97.73	gold quality
saliva-secreting gland	UBERON:0001044	97.56	gold quality
left ovary	UBERON:0002119	97.49	gold quality
tibial nerve	UBERON:0001323	97.24	gold quality
ovary	UBERON:0000992	97.16	gold quality
upper lobe of left lung	UBERON:0008952	96.75	gold quality
descending thoracic aorta	UBERON:0002345	96.57	gold quality
body of stomach	UBERON:0001161	96.15	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.93	gold quality
adenohypophysis	UBERON:0002196	95.75	gold quality
right lobe of thyroid gland	UBERON:0001119	95.57	gold quality
prostate gland	UBERON:0002367	95.57	gold quality
fundus of stomach	UBERON:0001160	95.53	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.49	gold quality
lower esophagus	UBERON:0013473	95.45	gold quality
thoracic aorta	UBERON:0001515	95.16	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-GEOD-83139	yes	4219.07
E-MTAB-7316	yes	3529.65
E-HCAD-9	yes	3431.94
E-MTAB-9841	yes	2894.35
E-GEOD-137537	yes	2695.16
E-GEOD-135922	yes	1676.76
E-GEOD-75688	yes	1478.49
E-MTAB-10287	yes	624.07
E-MTAB-10283	yes	469.18
E-HCAD-1	yes	76.42
E-CURD-114	yes	25.09
E-HCAD-11	yes	24.29
E-GEOD-81547	yes	22.95
E-MTAB-5061	yes	19.25
E-ENAD-27	yes	6.91

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, CEBPG, CTNNB1, FOS, FOXJ1, IL1A, IL1B, JUN, MZF1, NFKB1, NR4A1, PPARD, RELA, SP1, STAT1, STAT3, STAT5B, TNF, ZBTB7B

miRNA regulators (miRDB)

2 targeting SERPINA3, 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-137-3P	99.87	74.74	2401
HSA-MIR-296-5P	97.61	64.02	851

Literature-anchored findings (GeneRIF, showing 3)

• Expression of HSP60A is post-transcriptionally regulated in a highly dynamic pattern during embryogenesis, even under heat-shock conditions. In contrast, in very stressful situations, its expression is upregulated transcriptionally over the entire embryo. (PMID:18549261)
• We documented how floral traits under selection by multiple pollinators can result in either an intermediate “compromise” between selective pressures (sex organs) or apparent specialization (corolla tube length) to one pollinator (PMID:23888845)
• Data describe the crystal structures of gp12 before and after catalytic processing and show that the C-terminal domain of gp12 is an “autochaperone” that aids trimerization. (PMID:19450535)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
mus_musculus	Serpina3n	ENSMUSG00000021091
mus_musculus	Serpina3g	ENSMUSG00000041481
mus_musculus	Serpina3a	ENSMUSG00000041536
mus_musculus	Serpina3k	ENSMUSG00000058207
mus_musculus	Serpina3c	ENSMUSG00000066361
mus_musculus	Serpina3f	ENSMUSG00000066363
mus_musculus	Serpina3b	ENSMUSG00000066364
mus_musculus	Serpina3m	ENSMUSG00000079012
mus_musculus	Serpina3j	ENSMUSG00000079013
mus_musculus	Serpina3i	ENSMUSG00000079014
rattus_norvegicus	Serpina3m	ENSRNOG00000009921
rattus_norvegicus	Serpina3c	ENSRNOG00000010410
rattus_norvegicus	Serpina3n	ENSRNOG00000010478
rattus_norvegicus	Serpina3a	ENSRNOG00000029949
rattus_norvegicus	Serpina3j	ENSRNOG00000037743
rattus_norvegicus	Serpina3a	ENSRNOG00000048191

Paralogs (36): SERPINB1 (ENSG00000021355), SERPINB3 (ENSG00000057149), SERPIND1 (ENSG00000099937), SERPINA4 (ENSG00000100665), SERPINE1 (ENSG00000106366), SERPINI2 (ENSG00000114204), SERPINC1 (ENSG00000117601), SERPINA7 (ENSG00000123561), SERPINB6 (ENSG00000124570), SERPINF1 (ENSG00000132386), AGT (ENSG00000135744), SERPINE2 (ENSG00000135919), SERPINA10 (ENSG00000140093), SERPING1 (ENSG00000149131), SERPINH1 (ENSG00000149257), SERPINI1 (ENSG00000163536), SERPINA12 (ENSG00000165953), SERPINB7 (ENSG00000166396), SERPINB8 (ENSG00000166401), SERPINB12 (ENSG00000166634), SERPINF2 (ENSG00000167711), SERPINA9 (ENSG00000170054), SERPINA6 (ENSG00000170099), SERPINB9 (ENSG00000170542), SERPINA11 (ENSG00000186910), SERPINA5 (ENSG00000188488), SERPINA1 (ENSG00000197249), SERPINB2 (ENSG00000197632), SERPINB13 (ENSG00000197641), SERPINB11 (ENSG00000206072), SERPINB4 (ENSG00000206073), SERPINB5 (ENSG00000206075), HMSD (ENSG00000221887), SERPINB10 (ENSG00000242550), SERPINE3 (ENSG00000253309), SERPINA2 (ENSG00000258597)

Protein

Protein identifiers

Alpha-1-antichymotrypsin — P01011 (reviewed: P01011)

Alternative names: Cell growth-inhibiting gene 24/25 protein, Serpin A3

All UniProt accessions (4): A0A087WY93, P01011, G3V3A0, G3V595

UniProt curated annotations — full annotation on UniProt →

Function. Although its physiological function is unclear, it can inhibit neutrophil cathepsin G and mast cell chymase, both of which can convert angiotensin-1 to the active angiotensin-2.

Subunit / interactions. Interacts with DNAJC1.

Subcellular location. Secreted.

Tissue specificity. Plasma. Synthesized in the liver. Like the related alpha-1-antitrypsin, its concentration increases in the acute phase of inflammation or infection. Found in the amyloid plaques from the hippocampus of Alzheimer disease brains.

Post-translational modifications. N- and O-glycosylated.

Domain organisation. The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable.

Miscellaneous. Alpha-1-antichymotrypsin can bind DNA.

Similarity. Belongs to the serpin family.

Isoforms (3)

UniProt ID	Names	Canonical?
P01011-1	1	yes
P01011-2	2
P01011-3	3

RefSeq proteins (4): NP_001076, NP_001371601, NP_001371602, NP_001371603 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000215	Serpin_fam	Family
IPR023795	Serpin_CS	Conserved_site
IPR023796	Serpin_dom	Domain
IPR036186	Serpin_sf	Homologous_superfamily
IPR042178	Serpin_sf_1	Homologous_superfamily
IPR042185	Serpin_sf_2	Homologous_superfamily

Pfam: PF00079

UniProt features (69 total): strand 17, helix 13, sequence conflict 10, sequence variant 7, glycosylation site 6, turn 5, splice variant 4, chain 2, region of interest 2, signal peptide 1, DNA-binding region 1, site 1

Structure

Experimental structures (PDB)

26 structures.

PDB	Method	Resolution (Å)
6HGM	X-RAY DIFFRACTION	1.37
5OM2	X-RAY DIFFRACTION	1.47
6HGN	X-RAY DIFFRACTION	1.48
6HGI	X-RAY DIFFRACTION	1.52
5OM5	X-RAY DIFFRACTION	1.59
6HGF	X-RAY DIFFRACTION	1.65
5OM7	X-RAY DIFFRACTION	1.73
6HGG	X-RAY DIFFRACTION	1.79
6FTP	X-RAY DIFFRACTION	1.8
6HGJ	X-RAY DIFFRACTION	1.82
5OM6	X-RAY DIFFRACTION	1.85
6HGK	X-RAY DIFFRACTION	1.85
6HGD	X-RAY DIFFRACTION	1.9
6HGH	X-RAY DIFFRACTION	1.9
6HGL	X-RAY DIFFRACTION	1.92
5OM3	X-RAY DIFFRACTION	2
1AS4	X-RAY DIFFRACTION	2.1
5OM8	X-RAY DIFFRACTION	2.2
1QMN	X-RAY DIFFRACTION	2.27
3CAA	X-RAY DIFFRACTION	2.4
2ACH	X-RAY DIFFRACTION	2.7
3DLW	X-RAY DIFFRACTION	2.7
6HGE	X-RAY DIFFRACTION	2.8
4CAA	X-RAY DIFFRACTION	2.9
9D7K	ELECTRON MICROSCOPY	3
9C2T	ELECTRON MICROSCOPY	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P01011-F1	85.91	0.69

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 (1): 383–384 (reactive bond)

Glycosylation sites (6): 127, 186, 271, 33, 93, 106

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-6798695	Neutrophil degranulation
R-HSA-109582	Hemostasis
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 197 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_DIGESTION, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, GOBP_INFLAMMATORY_RESPONSE, KAAB_FAILED_HEART_ATRIUM_DN, GOBP_RESPONSE_TO_PEPTIDE, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GOZGIT_ESR1_TARGETS_DN, HSIAO_HOUSEKEEPING_GENES, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, COLIN_PILOCYTIC_ASTROCYTOMA_VS_GLIOBLASTOMA_UP, GOLDRATH_ANTIGEN_RESPONSE

GO Biological Process (5): acute-phase response (GO:0006953), inflammatory response (GO:0006954), regulation of lipid metabolic process (GO:0019216), maintenance of gastrointestinal epithelium (GO:0030277), response to cytokine (GO:0034097)

GO Molecular Function (4): DNA binding (GO:0003677), serine-type endopeptidase inhibitor activity (GO:0004867), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)

GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), extracellular matrix (GO:0031012), platelet alpha granule lumen (GO:0031093), secretory granule lumen (GO:0034774), azurophil granule lumen (GO:0035578), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Innate Immune System	1
Immune System	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
secretory granule lumen	2
acute inflammatory response	1
defense response	1
lipid metabolic process	1
regulation of primary metabolic process	1
epithelial structure maintenance	1
digestive system process	1
response to peptide	1
nucleic acid binding	1
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
binding	1
enzyme inhibitor activity	1
peptidase activity	1
peptidase regulator activity	1
intracellular membrane-bounded organelle	1
external encapsulating structure	1
platelet alpha granule	1
secretory granule	1
cytoplasmic vesicle lumen	1
vacuolar lumen	1
azurophil granule	1
extracellular vesicle	1
extracellular region	1

Protein interactions and networks

STRING

1672 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SERPINA3	KLK3	P07288	994
SERPINA3	CTSG	P08311	987
SERPINA3	CTRB2	Q6GPI1	971
SERPINA3	CTRB1	P17538	969
SERPINA3	A2M	P01023	917
SERPINA3	APOE	P02649	907
SERPINA3	ALB	P02768	900
SERPINA3	ORM1	P02763	887
SERPINA3	ORM2	P19652	830
SERPINA3	HP	P00737	817
SERPINA3	KLK2	P20151	796
SERPINA3	TTR	P02766	785
SERPINA3	APP	P05067	785
SERPINA3	DNAJC1	Q96KC8	746
SERPINA3	CP	P00450	730

IntAct

133 interactions, top by confidence:

A	B	Type	Score
MED24	MED19	psi-mi:“MI:0914”(association)	0.730
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
CCNC	MED19	psi-mi:“MI:0914”(association)	0.640
SERPINA3	FRQ1	psi-mi:“MI:0915”(physical association)	0.610
FRQ1	SERPINA3	psi-mi:“MI:0915”(physical association)	0.610
SERPINA3	DNAJC1	psi-mi:“MI:0915”(physical association)	0.580
SERPINA3	STUB1	psi-mi:“MI:0915”(physical association)	0.560
VPS29	SERPINA3	psi-mi:“MI:0915”(physical association)	0.560
SERPINA3	VPS33A	psi-mi:“MI:0915”(physical association)	0.560
SERPINA3	CASP6	psi-mi:“MI:0915”(physical association)	0.560
SERPINA3	LAMP2	psi-mi:“MI:0915”(physical association)	0.560
SERPINA3	SH3GLB1	psi-mi:“MI:0915”(physical association)	0.560
SERPINA3	APP	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (133): SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Reconstituted Complex), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Affinity Capture-MS), SERPINA3 (Two-hybrid)

ESM2 similar proteins: A2I7M9, A2I7N0, A2I7N1, A2I7N2, A2I7N3, A6QPQ2, B2D1U1, E1BF81, O54762, P01011, P05154, P05544, P05545, P07759, P08185, P09006, P22323, P22324, P22325, P22599, P26595, P29621, P29622, P31211, P50451, P70458, Q00896, Q00897, Q00898, Q03044, Q03734, Q3ZEJ6, Q5I2A0, Q5R536, Q5R9E3, Q5RCR2, Q60396, Q63556, Q63969, Q64118

Diamond homologs: A0A090BX51, A0A0K8RCY5, A0A0K8RJ89, A0A0K8RJV9, A5PJK0, A9RA96, B0CMB0, B1MTB7, B1MTC3, B2KI30, B3RFC3, B4USX2, E2RVI8, O02739, O08800, O35684, O54757, O54758, O54759, O54760, O73790, O73860, O75635, O75830, P01008, P01011, P01012, P01014, P05120, P05619, P12388, P17475, P19104, P22323, P22325, P22922, P23035, P29508, P29524, P30740

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
NfKb-p65/p50	“up-regulates quantity by expression”	SERPINA3	“transcriptional regulation”
IL1B	“up-regulates quantity by expression”	SERPINA3	“transcriptional regulation”
IL1A	“up-regulates quantity by expression”	SERPINA3	“transcriptional regulation”
JUN	“up-regulates quantity by expression”	SERPINA3	“transcriptional regulation”
TNF	“up-regulates quantity by expression”	SERPINA3	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	71
Likely benign	25
Benign	9

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
18049	NM_001085.5(SERPINA3):c.233T>C (p.Leu78Pro)	Pathogenic

SpliceAI

609 predictions. Top by Δscore:

Variant	Effect	Δscore
14:94615082:AAGG:A	donor_loss	1.0000
14:94615084:GGT:G	donor_loss	1.0000
14:94615085:G:T	donor_loss	1.0000
14:94622338:TA:T	acceptor_loss	1.0000
14:94622339:A:AG	acceptor_gain	1.0000
14:94622339:AG:A	acceptor_loss	1.0000
14:94622340:G:GT	acceptor_gain	1.0000
14:94622340:GA:G	acceptor_gain	1.0000
14:94622340:GAGA:G	acceptor_gain	1.0000
14:94622488:CCAGG:C	donor_loss	1.0000
14:94622490:AGGT:A	donor_loss	1.0000
14:94622492:G:C	donor_loss	1.0000
14:94622492:G:GG	donor_gain	1.0000
14:94614432:A:AG	acceptor_gain	0.9900
14:94614433:G:GG	acceptor_gain	0.9900
14:94614433:GA:G	acceptor_gain	0.9900
14:94614433:GAGTT:G	acceptor_gain	0.9900
14:94615085:G:GG	donor_gain	0.9900
14:94619314:C:CA	acceptor_gain	0.9900
14:94619315:G:A	acceptor_gain	0.9900
14:94622331:C:CA	acceptor_gain	0.9900
14:94622426:G:GT	donor_gain	0.9900
14:94622489:CAG:C	donor_gain	0.9900
14:94622490:AG:A	donor_gain	0.9900
14:94622491:GG:G	donor_gain	0.9900
14:94622493:T:A	donor_loss	0.9900
14:94623605:CCACA:C	acceptor_loss	0.9900
14:94623606:CACAG:C	acceptor_loss	0.9900
14:94623608:CA:C	acceptor_loss	0.9900
14:94623609:A:AC	acceptor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000495598 (14:94611921 G>A), RS1000520904 (14:94618155 G>C), RS1000653042 (14:94623390 C>G), RS1000683967 (14:94613234 C>G,T), RS1000774542 (14:94623160 A>G), RS1001049250 (14:94611695 C>T), RS1001116072 (14:94612874 C>CATGG), RS1001134361 (14:94614098 C>A), RS1001236486 (14:94621161 C>T), RS1001295146 (14:94621270 G>A), RS1001355990 (14:94616479 C>T), RS1001408174 (14:94616189 G>A), RS1002028377 (14:94617740 C>T), RS1002167754 (14:94612630 G>C,T), RS1002219720 (14:94610575 A>G)

Disease associations

OMIM: gene MIM:107280 | disease phenotypes: MIM:606787

GenCC curated gene-disease

Mondo (1): peripheral arterial occlusive disease 1 (MONDO:0011726)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002021_14	Body mass index	5.000000e-06
GCST004093_39	Prostate-specific antigen levels	2.000000e-15
GCST005989_26	Serum total protein levels	2.000000e-11
GCST006585_2663	Blood protein levels	3.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C564658	Peripheral Arterial Occlusive Disease 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5960 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs17091162	Efficacy	3	antineoplastic agents	Pancreatic Neoplasms

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17091162	SERPINA3	3	2.50	1	antineoplastic agents

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.84	IC50	145	nM	CHEMBL5291453

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
propan-2-yl (2S)-2-[[2-(6-amino-2-fluoropurin-9-yl)ethoxymethoxy-[[(2S)-1-oxo-3-phenyl-1-propan-2-yloxypropan-2-yl]amino]phosphoryl]amino]-3-phenylpropanoate	1953980: Inhibition of ACT (unknown origin)	ic50	0.1450	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects expression, affects cotreatment, decreases expression, increases expression, decreases reaction	8
Cyclosporine	decreases expression, increases expression	5
Benzo(a)pyrene	increases methylation, affects cotreatment, affects expression, increases expression	4
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression, increases expression	4
Acetaminophen	decreases expression	3
Amitriptyline	increases expression	3
Fluoxetine	increases expression	3
Nickel	increases expression, affects binding	3
bisphenol A	affects cotreatment, increases expression, affects expression	2
perfluorooctanoic acid	decreases expression, affects cotreatment	2
Aspirin	increases expression, decreases expression	2
trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride	increases expression	2
Calcitriol	increases expression, affects cotreatment	2
Chlorpromazine	increases expression	2
Clomipramine	increases expression	2
Clozapine	increases expression	2
Copper	affects cotreatment, increases expression, affects binding	2
Flecainide	increases expression	2
Haloperidol	increases expression	2
Imipramine	increases expression	2
Ketoconazole	increases expression	2
Lead	affects expression, affects binding	2
Perhexiline	increases expression	2
Smoke	decreases expression, increases abundance	2
Tamoxifen	decreases expression, increases expression	2
Thioridazine	increases expression	2
Tobacco Smoke Pollution	affects expression	2
Tretinoin	increases expression	2
Zimeldine	increases expression	2
Cadmium Chloride	decreases expression, increases expression	2

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5257981	Binding	Inhibition of ACT (unknown origin)	Nucleoside Derived Antibiotics to Fight Microbial Drug Resistance: New Utilities for an Established Class of Drugs? — J Med Chem

Clinical trials (associated diseases)

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