AP3M1

Summary

AP3M1 (adaptor related protein complex 3 subunit mu 1, HGNC:569) is a protein-coding gene on chromosome 10q22.2, encoding AP-3 complex subunit mu-1 (Q9Y2T2). Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated.

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 26985 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 47 total
• Druggable target: yes
• MANE Select transcript: NM_012095

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:569
Approved symbol	AP3M1
Name	adaptor related protein complex 3 subunit mu 1
Location	10q22.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185009
Ensembl biotype	protein_coding
OMIM	610366
Entrez	26985

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 26 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000355264, ENST00000372745, ENST00000480373, ENST00000487653, ENST00000867215, ENST00000867216, ENST00000867217, ENST00000867218, ENST00000867219, ENST00000867220, ENST00000867221, ENST00000867222, ENST00000867223, ENST00000920397, ENST00000920398, ENST00000920399, ENST00000920400, ENST00000920401, ENST00000920402, ENST00000920403, ENST00000920404, ENST00000920405, ENST00000964631, ENST00000964632, ENST00000964633, ENST00000964634, ENST00000964635, ENST00000964636

RefSeq mRNA: 5 — MANE Select: NM_012095 NM_001320263, NM_001320264, NM_001320265, NM_012095, NM_207012

CCDS: CCDS7342

Canonical transcript exons

ENST00000355264 — 9 exons

Exon	Start	End
ENSE00001295813	74129907	74129992
ENSE00001297090	74136632	74136803
ENSE00001305036	74124380	74124524
ENSE00001306310	74129108	74129241
ENSE00001325096	74134027	74134164
ENSE00001328145	74126148	74126355
ENSE00001458546	74138107	74138382
ENSE00001458547	74150755	74150828
ENSE00001869618	74120255	74123910

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 96.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.9904 / max 474.9734, expressed in 1815 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110126	32.8936	1815
110125	0.0968	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	96.13	gold quality
epithelial cell of pancreas	CL:0000083	95.13	gold quality
ileal mucosa	UBERON:0000331	95.05	gold quality
ganglionic eminence	UBERON:0004023	94.43	gold quality
ventricular zone	UBERON:0003053	93.98	gold quality
islet of Langerhans	UBERON:0000006	93.00	gold quality
adrenal tissue	UBERON:0018303	92.91	gold quality
smooth muscle tissue	UBERON:0001135	92.77	gold quality
cortical plate	UBERON:0005343	91.89	gold quality
rectum	UBERON:0001052	91.45	gold quality
tibialis anterior	UBERON:0001385	91.05	silver quality
esophagus squamous epithelium	UBERON:0006920	91.00	gold quality
monocyte	CL:0000576	90.33	gold quality
leukocyte	CL:0000738	90.27	gold quality
vermiform appendix	UBERON:0001154	89.92	gold quality
placenta	UBERON:0001987	89.82	gold quality
cartilage tissue	UBERON:0002418	89.34	gold quality
endothelial cell	CL:0000115	89.21	gold quality
right adrenal gland	UBERON:0001233	88.92	gold quality
stromal cell of endometrium	CL:0002255	88.91	gold quality
decidua	UBERON:0002450	88.84	gold quality
right adrenal gland cortex	UBERON:0035827	88.79	gold quality
pancreas	UBERON:0001264	88.63	gold quality
germinal epithelium of ovary	UBERON:0001304	88.59	gold quality
mucosa of sigmoid colon	UBERON:0004993	88.45	gold quality
left adrenal gland	UBERON:0001234	88.44	gold quality
right coronary artery	UBERON:0001625	88.25	gold quality
gall bladder	UBERON:0002110	88.16	gold quality
adrenal gland	UBERON:0002369	88.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.13	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.07

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

139 targeting AP3M1, 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-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-9-3P	99.96	70.88	2068
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-302E	99.96	70.74	2669
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-548E-5P	99.89	72.73	4486

Literature-anchored findings (GeneRIF, showing 4)

• The present results suggest that AP3 complex genes might not play a major role in the pathogenesis of schizophrenia. (PMID:19481122)
• Data indicate that AP-3 facilitates PAR1 interaction with ALIX. (PMID:22833563)
• results demonstrate that the intact and stable AP-3 complex is required for HIV-1 assembly and release, and the involvement of the AP-3 complex in late stages of the HIV-1 replication cycle is independent of clathrin-mediated endocytosis (PMID:22875976)
• Structural basis for the recognition of tyrosine-based sorting signals by the mu3A subunit of the AP-3 adaptor complex (PMID:23404500)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ap3m1	ENSDARG00000029928
mus_musculus	Ap3m1	ENSMUSG00000021824
rattus_norvegicus	Ap3m1	ENSRNOG00000011461
caenorhabditis_elegans		WBGENE00000164

Paralogs (7): AP3M2 (ENSG00000070718), AP1M1 (ENSG00000072958), AP1M2 (ENSG00000129354), STON2 (ENSG00000140022), AP2M1 (ENSG00000161203), AP4M1 (ENSG00000221838), STON1 (ENSG00000243244)

Protein

Protein identifiers

AP-3 complex subunit mu-1 — Q9Y2T2 (reviewed: Q9Y2T2)

Alternative names: AP-3 adaptor complex mu3A subunit, Adaptor-related protein complex 3 subunit mu-1, Mu-adaptin 3A, Mu3A-adaptin

All UniProt accessions (1): Q9Y2T2

UniProt curated annotations — full annotation on UniProt →

Function. Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.

Subunit / interactions. Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex. (Microbial infection) Interacts with human respiratory virus (HRSV) matrix protein; this interaction plays an essential role in trafficking the matrix protein in host cells.

Subcellular location. Golgi apparatus. Cytoplasmic vesicle membrane.

Similarity. Belongs to the adaptor complexes medium subunit family.

RefSeq proteins (5): NP_001307192, NP_001307193, NP_001307194, NP_036227, NP_996895 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001392	Clathrin_mu	Family
IPR011012	Longin-like_dom_sf	Homologous_superfamily
IPR018240	Clathrin_mu_CS	Conserved_site
IPR022775	AP_mu_sigma_su	Domain
IPR028565	MHD	Domain
IPR036168	AP2_Mu_C_sf	Homologous_superfamily
IPR050431	Adaptor_comp_med_subunit	Family

Pfam: PF00928, PF01217

UniProt features (4 total): sequence conflict 2, chain 1, domain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9C5C	ELECTRON MICROSCOPY	3.6
9C5A	ELECTRON MICROSCOPY	4.2
9C59	ELECTRON MICROSCOPY	4.3
9C5B	ELECTRON MICROSCOPY	4.5
9C58	ELECTRON MICROSCOPY	4.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2T2-F1	92.18	0.81

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-390471	Association of TriC/CCT with target proteins during biosynthesis
R-HSA-390466	Chaperonin-mediated protein folding
R-HSA-391251	Protein folding
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 211 (showing top): RNGTGGGC_UNKNOWN, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_LYSOSOMAL_TRANSPORT, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOBP_VESICLE_ORGANIZATION, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_SYNAPTIC_VESICLE_CYTOSKELETAL_TRANSPORT, GOBP_PROTEIN_TARGETING, GOBP_CELLULAR_PIGMENTATION, GOBP_VACUOLAR_TRANSPORT, KEGG_LYSOSOME

GO Biological Process (11): protein targeting to lysosome (GO:0006622), endocytosis (GO:0006897), anterograde axonal transport (GO:0008089), vesicle-mediated transport (GO:0016192), clathrin-coated vesicle cargo loading, AP-3-mediated (GO:0035654), anterograde synaptic vesicle transport (GO:0048490), platelet dense granule organization (GO:0060155), postsynaptic neurotransmitter receptor internalization (GO:0098884), melanosome assembly (GO:1903232), intracellular protein transport (GO:0006886), protein transport (GO:0015031)

GO Molecular Function (2): small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (12): lysosome (GO:0005764), lysosomal membrane (GO:0005765), early endosome (GO:0005769), Golgi apparatus (GO:0005794), AP-3 adaptor complex (GO:0030123), clathrin adaptor complex (GO:0030131), cytoplasmic vesicle membrane (GO:0030659), cytoplasmic vesicle (GO:0031410), postsynaptic recycling endosome (GO:0098837), axon cytoplasm (GO:1904115), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Chaperonin-mediated protein folding	1
Protein folding	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
intracellular protein localization	2
cytoplasm	2
AP-type membrane coat adaptor complex	2
cellular anatomical structure	2
protein targeting to vacuole	1
lysosomal transport	1
protein localization to lysosome	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
axonal transport	1
axon cytoplasm	1
cellular process	1
clathrin-coated vesicle cargo loading	1
anterograde axonal transport	1
synaptic vesicle transport along microtubule	1
secretory granule organization	1
regulation of postsynaptic membrane neurotransmitter receptor levels	1
neurotransmitter receptor internalization	1
postsynaptic endocytosis	1
melanosome organization	1
organelle assembly	1
protein transport	1
intracellular transport	1
establishment of protein localization	1
GTPase binding	1
binding	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
endosome	1
endomembrane system	1
intracellular membrane-bounded organelle	1
clathrin coat	1
vesicle membrane	1
cytoplasmic vesicle	1
intracellular vesicle	1
recycling endosome	1

Protein interactions and networks

STRING

1338 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AP3M1	AP3D1	O14617	948
AP3M1	AP3S1	Q92572	937
AP3M1	AP3B1	O00203	889
AP3M1	AP3S2	P59780	811
AP3M1	AP1G1	O43747	665
AP3M1	AP2A1	O95782	653
AP3M1	HOOK1	Q9UJC3	634
AP3M1	AP3B2	Q13367	630
AP3M1	GSTM1	P09488	596
AP3M1	KCNIP3	Q9Y2W7	548
AP3M1	SLC30A3	Q99726	516
AP3M1	CLN3	Q13286	511
AP3M1	SAMD8	Q96LT4	476
AP3M1	KXD1	Q9BQD3	475
AP3M1	DUSP13B	Q9UII6	475

IntAct

167 interactions, top by confidence:

A	B	Type	Score
AP3M1	RSPH14	psi-mi:“MI:0915”(physical association)	0.830
RSPH14	AP3M1	psi-mi:“MI:0915”(physical association)	0.830
AP3M1	CRMP1	psi-mi:“MI:0915”(physical association)	0.720
SIPA1L2	AP3M1	psi-mi:“MI:0915”(physical association)	0.720
CRMP1	AP3M1	psi-mi:“MI:0915”(physical association)	0.720
AP3M1	SIPA1L2	psi-mi:“MI:0915”(physical association)	0.720
SLC12A4	AP3M1	psi-mi:“MI:0915”(physical association)	0.670
AP3M1	AP3B1	psi-mi:“MI:0914”(association)	0.640
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
AGTRAP	AP3M1	psi-mi:“MI:0915”(physical association)	0.560
TRIM9	AP3M1	psi-mi:“MI:0915”(physical association)	0.560
AP3M1	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
HLA-DMB	AP3M1	psi-mi:“MI:0915”(physical association)	0.560
TRIM23	AP3M1	psi-mi:“MI:0915”(physical association)	0.560
ARNT2	AP3M1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (220): AP3M1 (Two-hybrid), RSPH14 (Two-hybrid), AGTRAP (Two-hybrid), SIPA1L2 (Two-hybrid), TRIM9 (Two-hybrid), AP3M1 (Reconstituted Complex), AP3M1 (Affinity Capture-Western), AP3M1 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS)

ESM2 similar proteins: A2RV18, A4IG72, A7MB11, B8APQ0, D3ZAA9, E2RED8, E9PY46, F4I562, O00189, O43304, O89043, P33611, P47795, P47823, P53676, P53677, P53678, Q0J649, Q10QS7, Q13144, Q14168, Q14181, Q24K11, Q29RY8, Q2PWT8, Q3UR70, Q499N2, Q4R6Q7, Q58D13, Q5E9X5, Q5R478, Q5ZMP7, Q64350, Q8BJ63, Q8CHW4, Q8R2R9, Q8WUH2, Q93Y22, Q96RY7, Q9D0T2

Diamond homologs: F4I562, P47795, P53676, P53677, P53678, Q00776, Q24K11, Q5R478, Q5ZMP7, Q8R2R9, Q9GPF1, Q9HFE5, Q9JKC8, Q9Y2T2, D3ZRP6, P35585, P35602, P38700, Q2KJ81, Q32Q06, Q3SYW1, Q54HS9, Q9BXS5, Q9WVP1, Q9Y6Q5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
AP3M1	“form complex”	“AP-3 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 141 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
Neurexins and neuroligins	6	12.3×	3e-03
Signaling by ALK fusions and activated point mutants	7	11.0×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
platelet dense granule organization	5	27.9×	8e-04
neuron projection morphogenesis	6	13.7×	2e-03
adaptive immune response	8	5.6×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1794 predictions. Top by Δscore:

Variant	Effect	Δscore
10:74123787:T:TA	donor_gain	1.0000
10:74123909:GCC:G	acceptor_loss	1.0000
10:74123911:C:A	acceptor_loss	1.0000
10:74123911:C:CC	acceptor_gain	1.0000
10:74124374:CCTTA:C	donor_loss	1.0000
10:74124376:TTACC:T	donor_loss	1.0000
10:74124378:A:AC	donor_gain	1.0000
10:74124378:A:AG	donor_loss	1.0000
10:74124379:C:CA	donor_loss	1.0000
10:74124379:C:CC	donor_gain	1.0000
10:74124520:AGTAC:A	acceptor_gain	1.0000
10:74124521:GTAC:G	acceptor_gain	1.0000
10:74124522:TAC:T	acceptor_gain	1.0000
10:74124523:AC:A	acceptor_gain	1.0000
10:74124524:CCT:C	acceptor_gain	1.0000
10:74124525:C:T	acceptor_gain	1.0000
10:74124525:CTT:C	acceptor_loss	1.0000
10:74124526:T:C	acceptor_gain	1.0000
10:74124526:T:TC	acceptor_gain	1.0000
10:74124535:C:CT	acceptor_gain	1.0000
10:74124536:A:T	acceptor_gain	1.0000
10:74126125:CT:C	donor_gain	1.0000
10:74126351:CTAGA:C	acceptor_gain	1.0000
10:74129063:A:AC	donor_gain	1.0000
10:74129064:C:CC	donor_gain	1.0000
10:74129106:A:AC	donor_gain	1.0000
10:74129107:C:CC	donor_gain	1.0000
10:74129902:CTTA:C	donor_loss	1.0000
10:74129903:TTA:T	donor_loss	1.0000
10:74129904:TACCA:T	donor_loss	1.0000

AlphaMissense

2764 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:74123856:C:T	G404E	1.000
10:74123857:C:G	G404R	1.000
10:74123857:C:T	G404R	1.000
10:74123858:T:A	K403N	1.000
10:74123858:T:G	K403N	1.000
10:74124515:A:G	W341R	1.000
10:74124515:A:T	W341R	1.000
10:74129203:G:C	C236W	1.000
10:74129923:A:G	L218P	1.000
10:74129966:C:A	G204W	1.000
10:74129966:C:G	G204R	1.000
10:74129966:C:T	G204R	1.000
10:74134108:G:T	R168S	1.000
10:74134111:A:G	W167R	1.000
10:74134111:A:T	W167R	1.000
10:74123851:T:C	K406E	0.999
10:74123853:A:T	V405D	0.999
10:74123860:T:C	K403E	0.999
10:74123861:A:C	F402L	0.999
10:74123861:A:T	F402L	0.999
10:74123863:A:G	F402L	0.999
10:74123895:C:G	R391P	0.999
10:74129127:A:C	Y262D	0.999
10:74129135:A:G	L259P	0.999
10:74129135:A:T	L259H	0.999
10:74129156:G:C	P252R	0.999
10:74129156:G:T	P252H	0.999
10:74129187:A:G	W242R	0.999
10:74129187:A:T	W242R	0.999
10:74129204:C:T	C236Y	0.999

dbSNP variants (sampled 300 via entrez): RS1000040173 (10:74133707 T>G), RS1000271999 (10:74130670 T>C), RS1000500087 (10:74135133 A>G), RS1000602951 (10:74131981 G>A), RS1000643619 (10:74142433 G>T), RS1000695938 (10:74142038 C>A,T), RS1000725066 (10:74144611 A>G), RS1000816653 (10:74136340 G>A,C), RS1000915401 (10:74128939 C>A,T), RS1001008944 (10:74125227 C>T), RS1001120957 (10:74148962 T>C), RS1001163586 (10:74140213 G>A), RS1001216013 (10:74144192 A>C), RS1001302361 (10:74121721 T>C), RS1001357849 (10:74149826 A>G)

Disease associations

OMIM: gene MIM:610366 | disease phenotypes: MIM:611407, MIM:613255

GenCC curated gene-disease

Mondo (2): dilated cardiomyopathy 1W (MONDO:0012667), hypertrophic cardiomyopathy 15 (MONDO:0013200)

Orphanet (1): Familial isolated dilated cardiomyopathy (Orphanet:154)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002030_4	Primary tooth development (time to first tooth eruption)	2.000000e-08
GCST002031_4	Primary tooth development (number of teeth)	8.000000e-16
GCST008309_5	Cardiac troponin-I levels	3.000000e-09
GCST010002_291	Refractive error	2.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010071	cardiac troponin I measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C566954	Cardiomyopathy, Dilated, 1w (supp.)
C567681	Cardiomyopathy, Familial Hypertrophic, 15 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067319 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.49	Kd	3238	nM	CHEMBL5653589
5.49	ED50	3238	nM	CHEMBL5653589

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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147870: Binding affinity to human AP3M1 incubated for 45 mins by Kinobead based pull down assay	kd	3.2383	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression, affects expression	3
entinostat	decreases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
tetrabromobisphenol A	increases expression	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	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
pyrachlostrobin	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
picoxystrobin	decreases expression	1
NSC 689534	affects binding, decreases expression	1
Temozolomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Antimycin A	decreases expression	1
Copper	affects binding, decreases expression	1
Diethylstilbestrol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Ivermectin	decreases expression	1
Ketoconazole	decreases expression	1
Lead	affects expression	1
Ribonucleotides	affects binding	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	decreases 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
CHEMBL5650912	Binding	Binding affinity to human AP3M1 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.