AP1M1

Summary

AP1M1 (adaptor related protein complex 1 subunit mu 1, HGNC:13667) is a protein-coding gene on chromosome 19p13.11, encoding AP-1 complex subunit mu-1 (Q9BXS5). Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes.

The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene.

Source: NCBI Gene 8907 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 54 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_032493

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13667
Approved symbol	AP1M1
Name	adaptor related protein complex 1 subunit mu 1
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	AP47, CLAPM2, mu1A
Ensembl gene	ENSG00000072958
Ensembl biotype	protein_coding
OMIM	603535
Entrez	8907

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 19 protein_coding, 5 retained_intron

ENST00000291439, ENST00000429941, ENST00000444449, ENST00000586461, ENST00000586543, ENST00000586957, ENST00000589782, ENST00000589822, ENST00000589991, ENST00000590263, ENST00000590756, ENST00000590945, ENST00000591775, ENST00000591966, ENST00000592703, ENST00000908208, ENST00000908209, ENST00000908210, ENST00000908211, ENST00000908212, ENST00000908213, ENST00000918451, ENST00000955723, ENST00000955724

RefSeq mRNA: 2 — MANE Select: NM_032493 NM_001130524, NM_032493

CCDS: CCDS12342, CCDS46008

Canonical transcript exons

ENST00000291439 — 12 exons

Exon	Start	End
ENSE00000873428	16209030	16209177
ENSE00001049811	16233493	16233618
ENSE00001049816	16228770	16228928
ENSE00001049821	16227548	16227690
ENSE00001130976	16197911	16198068
ENSE00001630623	16234199	16234274
ENSE00001693011	16228137	16228208
ENSE00002901079	16234413	16245906
ENSE00003539817	16226421	16226547
ENSE00003583161	16203459	16203615
ENSE00003647450	16206341	16206408
ENSE00003717824	16208019	16208149

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 95.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.8596 / max 191.1711, expressed in 1822 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174391	42.9073	1822
174390	0.9523	577

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	95.60	gold quality
right lobe of liver	UBERON:0001114	95.53	gold quality
left testis	UBERON:0004533	95.31	gold quality
cortical plate	UBERON:0005343	95.29	gold quality
right testis	UBERON:0004534	95.22	gold quality
stromal cell of endometrium	CL:0002255	95.14	gold quality
prefrontal cortex	UBERON:0000451	95.00	gold quality
ileal mucosa	UBERON:0000331	94.91	gold quality
kidney epithelium	UBERON:0004819	94.90	gold quality
leukocyte	CL:0000738	94.82	gold quality
monocyte	CL:0000576	94.74	gold quality
embryo	UBERON:0000922	94.56	gold quality
ganglionic eminence	UBERON:0004023	94.56	gold quality
right coronary artery	UBERON:0001625	94.50	gold quality
ventricular zone	UBERON:0003053	94.49	gold quality
left coronary artery	UBERON:0001626	94.46	gold quality
decidua	UBERON:0002450	94.44	gold quality
coronary artery	UBERON:0001621	94.36	gold quality
left adrenal gland	UBERON:0001234	94.28	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.26	gold quality
lower esophagus	UBERON:0013473	94.24	gold quality
right adrenal gland	UBERON:0001233	94.21	gold quality
left adrenal gland cortex	UBERON:0035825	94.18	gold quality
ascending aorta	UBERON:0001496	94.13	gold quality
thoracic aorta	UBERON:0001515	94.11	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.07	gold quality
right adrenal gland cortex	UBERON:0035827	94.01	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.88	gold quality
aorta	UBERON:0000947	93.85	gold quality
adrenal cortex	UBERON:0001235	93.83	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.43
E-MTAB-6678	yes	10.70
E-GEOD-106540	no	145.19
E-CURD-97	no	93.37

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting AP1M1, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6734-3P	99.15	66.27	1627
HSA-MIR-331-3P	98.76	64.91	793
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-6801-3P	98.04	64.64	805
HSA-MIR-6769A-5P	97.99	64.16	851
HSA-MIR-4736	97.96	65.89	1287
HSA-MIR-6810-3P	97.96	64.57	1023
HSA-MIR-7113-5P	97.88	67.33	1735

Literature-anchored findings (GeneRIF, showing 10)

• These data identify the micro subunit of AP-1 (micro1) as the key target of the MHC-I CD/Nef complex, and they indicate that both Y320 in the MHC-I CD and E62-65 in Nef interact directly with micro1. (PMID:18057255)
• AP-1 mu1A is involved in the kAE1 trafficking of kidney alpha-intercalated cells (PMID:20833140)
• Mu1A binding to the N terminus of HIV-1 Nef determines its ability to downregulate major histocompatibility complex class I in T lymphocytes. (PMID:22301137)
• IRS-1 associates with mu1A of the ubiquitously expressed AP-1 complex through three protein interaction motifs. (PMID:23478262)
• Adaptor protein 1 promotes cross-presentation through the same tyrosine signal in major histocompatibility complex class I as that targeted by HIV-1. (PMID:23678182)
• CNNM4 is sorted to the basolateral membrane by the complementary function of AP-1A and AP-1B (PMID:25449265)
• Acidic clusters act as sorting signals for packaging cargo into clathrin-coated vesicles (CCVs), and also facilitate down-regulation of MHC-I by HIV-1 Nef. The basic patch on micro1 that interacts with the Nef acidic cluster also contributes to the binding of endogenous acidic cluster proteins. (PMID:28743825)
• Here, the authors demonstrate that dileucine motifs in the hepatitis C virus NS2 protein mediate AP-1A, AP-1B, and AP-4 binding and cell-free virus release. Moreover, they reveal that AP-4, an adaptor not previously implicated in viral infections, mediates cell-to-cell spread and hepatitis C virus trafficking. (PMID:29535204)
• found 31 ORF9p interaction partners, among which was AP1M1, the mu subunit of the adaptor protein complex 1 (AP-1). AP-1 is a heterotetramer involved in intracellular vesicle-mediated transport and regulates the shuttling of cargo proteins between endosomes and the trans-Golgi network via clathrin-coated vesicles. (PMID:29793951)
• It has been shown that the cytoplasmic domains of furin bind the mu subunits of AP-1 and AP-2 in a phosphorylation-dependent manner. (PMID:30135209)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ap1m1	ENSDARG00000096249
mus_musculus	Ap1m1	ENSMUSG00000003033
rattus_norvegicus	Ap1m1	ENSRNOG00000014454
drosophila_melanogaster	AP-1mu	FBGN0024833
caenorhabditis_elegans	unc-101	WBGENE00006829

Paralogs (7): AP3M2 (ENSG00000070718), AP1M2 (ENSG00000129354), STON2 (ENSG00000140022), AP2M1 (ENSG00000161203), AP3M1 (ENSG00000185009), AP4M1 (ENSG00000221838), STON1 (ENSG00000243244)

Protein

Protein identifiers

AP-1 complex subunit mu-1 — Q9BXS5 (reviewed: Q9BXS5)

Alternative names: AP-mu chain family member mu1A, Adaptor protein complex AP-1 subunit mu-1, Adaptor-related protein complex 1 subunit mu-1, Clathrin assembly protein complex 1 mu-1 medium chain 1, Clathrin coat assembly protein AP47, Clathrin coat-associated protein AP47, Golgi adaptor HA1/AP1 adaptin mu-1 subunit, Mu-adaptin 1, Mu1A-adaptin

All UniProt accessions (9): Q9BXS5, A0A087WZX7, E7ENJ6, K7EJL1, K7ENA7, K7EPJ8, K7EQ90, K7EQX3, K7ER75

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the trans-Golgi network (TGN) and endosomes. The AP complexes mediate the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Subunit / interactions. Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). Interacts with MARCHF11. Associates with the AP1(MU)-Nef-MHC-I complex; this complex is required for MHC-I internalization. (Microbial infection) Interacts with HIV-1 Nef.

Subcellular location. Golgi apparatus. Cytoplasmic vesicle. Clathrin-coated vesicle membrane.

Post-translational modifications. Phosphorylation of membrane-bound AP1M1/AP1M2 increases its affinity for sorting signals.

Similarity. Belongs to the adaptor complexes medium subunit family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BXS5-1	1	yes
Q9BXS5-2	2

RefSeq proteins (2): NP_001123996, NP_115882* (*=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 (9 total): modified residue 4, initiator methionine 1, chain 1, domain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXS5-F1	94.41	0.91

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 2, 152, 154, 223

Function

Pathways and Gene Ontology

Reactome pathways

18 pathways

ID	Pathway
R-HSA-164940	Nef mediated downregulation of MHC class I complex cell surface expression
R-HSA-2132295	MHC class II antigen presentation
R-HSA-432720	Lysosome Vesicle Biogenesis
R-HSA-432722	Golgi Associated Vesicle Biogenesis
R-HSA-6798695	Neutrophil degranulation
R-HSA-1280218	Adaptive Immune System
R-HSA-162906	HIV Infection
R-HSA-162909	Host Interactions of HIV factors
R-HSA-1643685	Disease
R-HSA-164938	Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
R-HSA-164952	The role of Nef in HIV-1 replication and disease pathogenesis
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-199991	Membrane Trafficking
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5663205	Infectious disease
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 206 (showing top): MODULE_52, REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, MODULE_45, GOBP_CELLULAR_PIGMENTATION, GOBP_VACUOLAR_TRANSPORT, KEGG_LYSOSOME, REACTOME_THE_ROLE_OF_NEF_IN_HIV_1_REPLICATION_AND_DISEASE_PATHOGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, MODULE_16

GO Biological Process (8): intracellular protein transport (GO:0006886), vesicle-mediated transport (GO:0016192), melanosome organization (GO:0032438), endosome to melanosome transport (GO:0035646), platelet dense granule organization (GO:0060155), melanosome assembly (GO:1903232), protein transport (GO:0015031), establishment of localization in cell (GO:0051649)

GO Molecular Function (2): clathrin-cargo adaptor activity (GO:0035615), protein binding (GO:0005515)

GO Cellular Component (19): Golgi membrane (GO:0000139), lysosomal membrane (GO:0005765), early endosome (GO:0005769), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), AP-1 adaptor complex (GO:0030121), clathrin-coated vesicle (GO:0030136), cytoplasmic vesicle membrane (GO:0030659), trans-Golgi network membrane (GO:0032588), specific granule membrane (GO:0035579), synapse (GO:0045202), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), clathrin-coated pit (GO:0005905), clathrin adaptor complex (GO:0030131), clathrin-coated vesicle membrane (GO:0030665), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
trans-Golgi Network Vesicle Budding	2
Immune System	2
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	1
Adaptive Immune System	1
Innate Immune System	1
Viral Infection Pathways	1
HIV Infection	1
The role of Nef in HIV-1 replication and disease pathogenesis	1
Host Interactions of HIV factors	1
Vesicle-mediated transport	1
Membrane Trafficking	1
Disease	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	3
cellular anatomical structure	3
intracellular protein localization	2
transport	2
membrane	2
endomembrane system	2
protein transport	1
intracellular transport	1
cellular process	1
pigment granule organization	1
endosome to pigment granule transport	1
secretory granule organization	1
melanosome organization	1
organelle assembly	1
establishment of protein localization	1
establishment of localization	1
cellular localization	1
clathrin binding	1
cargo adaptor activity	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
lysosome	1
lytic vacuole membrane	1
endosome	1
cell periphery	1
clathrin coat of trans-Golgi network vesicle	1
clathrin adaptor complex	1
coated vesicle	1
vesicle membrane	1
cytoplasmic vesicle	1
trans-Golgi network	1
organelle membrane	1
secretory granule membrane	1
specific granule	1
cell junction	1
extracellular vesicle	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1
clathrin coat	1

Protein interactions and networks

STRING

1574 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AP1M1	AP1S1	P61966	994
AP1M1	AP1S2	P56377	956
AP1M1	AP1G1	O43747	925
AP1M1	AP2S1	P53680	866
AP1M1	GSTM1	P09488	855
AP1M1	AP1G2	O75843	777
AP1M1	MARCHF11	A6NNE9	761
AP1M1	GGA1	Q9UJY5	733
AP1M1	AP1B1	P78436	724
AP1M1	GGA3	Q9NZ52	724
AP1M1	AP3S1	Q92572	694
AP1M1	AP1S3	Q96PC3	685
AP1M1	MARCHF4	Q9P2E8	670
AP1M1	MARCHF9	Q86YJ5	648
AP1M1	CSNK2A1	P19138	557

IntAct

392 interactions, top by confidence:

A	B	Type	Score
FXR2	AP1M1	psi-mi:“MI:0915”(physical association)	0.780
AP1M1	ZBTB8A	psi-mi:“MI:0915”(physical association)	0.780
AP1M1	TIFA	psi-mi:“MI:0915”(physical association)	0.780
ZBTB8A	AP1M1	psi-mi:“MI:0915”(physical association)	0.780
AP1M1	FXR2	psi-mi:“MI:0915”(physical association)	0.780
LDOC1	AP1M1	psi-mi:“MI:0915”(physical association)	0.760
ZBTB43	AP1M1	psi-mi:“MI:0915”(physical association)	0.720
ZBTB14	AP1M1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	AP1M1	psi-mi:“MI:0915”(physical association)	0.720
KRT40	AP1M1	psi-mi:“MI:0915”(physical association)	0.720
AP1M1	ZBTB43	psi-mi:“MI:0915”(physical association)	0.720
AP1M1	ZBTB14	psi-mi:“MI:0915”(physical association)	0.720
AP1M1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
RUNDC3A	AP1M1	psi-mi:“MI:0915”(physical association)	0.670
AP1M1	RUNDC3A	psi-mi:“MI:0915”(physical association)	0.670
AP1S2	AP1G1	psi-mi:“MI:0914”(association)	0.670
AP1M1	MTF1	psi-mi:“MI:0915”(physical association)	0.620
AP1M1		psi-mi:“MI:0915”(physical association)	0.560

BioGRID (316): AP1M1 (Two-hybrid), AP1M1 (Two-hybrid), AP1M1 (Two-hybrid), FXR2 (Two-hybrid), DZIP3 (Two-hybrid), TNIP1 (Two-hybrid), IKZF1 (Two-hybrid), SDCCAG3 (Two-hybrid), RUNDC3A (Two-hybrid), ZBTB43 (Two-hybrid), ZBTB44 (Two-hybrid), HOOK2 (Two-hybrid), LZTS2 (Two-hybrid), TIFA (Two-hybrid), PNMA5 (Two-hybrid)

ESM2 similar proteins: A0A1L8EV45, C9WPN6, F1QGW6, F6RQL9, O73723, O77676, P00516, P0C605, P20461, P23258, P23330, P31321, P32392, P35250, P41091, P53033, P61157, P61158, P62482, P62483, P81795, P83887, P83888, Q05B83, Q0VCD2, Q13126, Q13303, Q13976, Q27955, Q2KHU8, Q2KJ81, Q2VIR3, Q32KM1, Q4V7C7, Q5R797, Q5R8R1, Q5ZHS1, Q5ZMS3, Q641P0, Q641W4

Diamond homologs: D3ZRP6, O22715, O23140, P35585, P35602, P35603, P54672, P84091, P84092, Q00776, Q09718, Q24212, Q2KJ81, Q32Q06, Q3SYW1, Q3ZC13, Q4R706, Q54HS9, Q5NVF7, Q5ZMP6, Q5ZMP7, Q6NWK2, Q6P856, Q7ZW98, Q801Q8, Q96CW1, Q9BXS5, Q9GPF1, Q9HFE5, Q9SAC9, Q9SB50, Q9WVP1, Q9Y6Q5, Q99186, Q750L8, Q8CDJ8, F4I562, Q3ZBB6, E2RED8, Q29RY8

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
AAK1	up-regulates	AP1M1	phosphorylation
AP1M1	“form complex”	“AP-1 complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2337 predictions. Top by Δscore:

Variant	Effect	Δscore
19:16203453:CCCCA:C	acceptor_loss	1.0000
19:16203454:CCCAG:C	acceptor_loss	1.0000
19:16203455:CCAGG:C	acceptor_loss	1.0000
19:16203456:CA:C	acceptor_loss	1.0000
19:16203458:GGT:G	acceptor_gain	1.0000
19:16203537:G:GT	donor_gain	1.0000
19:16203540:G:GT	donor_gain	1.0000
19:16203543:G:GT	donor_gain	1.0000
19:16208008:A:AG	acceptor_gain	1.0000
19:16208009:A:AG	acceptor_gain	1.0000
19:16208011:C:A	acceptor_gain	1.0000
19:16208014:CACA:C	acceptor_loss	1.0000
19:16208016:CA:C	acceptor_loss	1.0000
19:16208017:A:AC	acceptor_loss	1.0000
19:16208017:A:AG	acceptor_gain	1.0000
19:16208017:AG:A	acceptor_gain	1.0000
19:16208017:AGGT:A	acceptor_gain	1.0000
19:16208018:G:GG	acceptor_gain	1.0000
19:16208018:GG:G	acceptor_gain	1.0000
19:16208018:GGT:G	acceptor_gain	1.0000
19:16208018:GGTG:G	acceptor_gain	1.0000
19:16208018:GGTGT:G	acceptor_gain	1.0000
19:16208147:GGA:G	donor_gain	1.0000
19:16208148:GA:G	donor_gain	1.0000
19:16208148:GAG:G	donor_gain	1.0000
19:16208150:G:GG	donor_gain	1.0000
19:16226418:CAGGT:C	acceptor_loss	1.0000
19:16226419:A:T	acceptor_loss	1.0000
19:16226420:GGTCA:G	acceptor_gain	1.0000
19:16226543:GGGCC:G	donor_gain	1.0000

AlphaMissense

2798 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:16203472:G:C	R19P	1.000
19:16208069:C:A	N106K	1.000
19:16208069:C:G	N106K	1.000
19:16208070:T:C	F107L	1.000
19:16208072:T:A	F107L	1.000
19:16208072:T:G	F107L	1.000
19:16208089:T:C	L113P	1.000
19:16208094:G:C	D115H	1.000
19:16208106:G:C	D119H	1.000
19:16208112:G:C	G121R	1.000
19:16208113:G:A	G121D	1.000
19:16208113:G:T	G121V	1.000
19:16208143:T:C	L131P	1.000
19:16209035:T:A	I135N	1.000
19:16209089:T:A	V153D	1.000
19:16209106:T:A	W159R	1.000
19:16209106:T:C	W159R	1.000
19:16209108:G:C	W159C	1.000
19:16209108:G:T	W159C	1.000
19:16209110:G:C	R160P	1.000
19:16209138:T:A	N169K	1.000
19:16209138:T:G	N169K	1.000
19:16209145:T:C	F172L	1.000
19:16209146:T:C	F172S	1.000
19:16209146:T:G	F172C	1.000
19:16209147:C:A	F172L	1.000
19:16209147:C:G	F172L	1.000
19:16209151:G:C	D174H	1.000
19:16209152:A:T	D174V	1.000
19:16209155:T:A	V175D	1.000

dbSNP variants (sampled 300 via entrez): RS1000002538 (19:16215060 C>A,T), RS1000064460 (19:16244824 G>A,C), RS1000168774 (19:16222183 T>C), RS1000225073 (19:16208952 C>G), RS1000227000 (19:16219103 T>C), RS1000344198 (19:16197824 G>A,C), RS1000353558 (19:16203628 T>C), RS1000406528 (19:16239188 T>A,C), RS1000454986 (19:16223763 G>A,C), RS1000599645 (19:16223302 G>A), RS1000736458 (19:16240479 C>T), RS1000752763 (19:16199268 G>C), RS1000805049 (19:16199033 C>G), RS1000880919 (19:16231057 G>A), RS1000906781 (19:16235731 T>A,C)

Disease associations

OMIM: gene MIM:603535 | 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):

Study	Trait	p-value
GCST010867_21	Coronary artery disease	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724751 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
7.26	Kd	55.23	nM	CHEMBL3752910
7.26	ED50	55.23	nM	CHEMBL3752910
7.04	Kd	91.42	nM	CHEMBL5653589
7.04	ED50	91.42	nM	CHEMBL5653589
6.68	IC50	210	nM	MOLIBRESIB

PubChem BioAssay actives

3 with measured affinity, of 10 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147862: Binding affinity to human AP1M1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0552	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147862: Binding affinity to human AP1M1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0914	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178850: Inhibition of AP1M1 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.2100	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, increases methylation, decreases expression	3
sodium arsenite	affects binding, increases reaction, decreases expression, increases expression	3
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	increases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
yessotoxin	increases expression	1
CGP 52608	increases reaction, affects binding	1
K 7174	decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
PP242	decreases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Caffeine	decreases phosphorylation	1
Cannabidiol	decreases expression	1
Coumestrol	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Gallic Acid	increases expression	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5650904	Binding	Binding affinity to human AP1M1 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

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1JN	Abcam HeLa AP1M1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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