AMN1

Summary

AMN1 (antagonist of mitotic exit network 1 homolog, HGNC:27281) is a protein-coding gene on chromosome 12p11.21, encoding Protein AMN1 homolog (Q8IY45).

Predicted to be involved in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process. Predicted to be part of SCF ubiquitin ligase complex. Predicted to be active in microvillus membrane.

Source: NCBI Gene 196394 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_001113402

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27281
Approved symbol	AMN1
Name	antagonist of mitotic exit network 1 homolog
Location	12p11.21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000151743
Ensembl biotype	protein_coding
OMIM	620564
Entrez	196394

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000281471, ENST00000422146, ENST00000457428, ENST00000506446, ENST00000509386, ENST00000535408, ENST00000536761, ENST00000537562, ENST00000537960, ENST00000541541, ENST00000541931, ENST00000542781

RefSeq mRNA: 3 — MANE Select: NM_001113402 NM_001113402, NM_001278411, NM_001278412

CCDS: CCDS44858, CCDS61089

Canonical transcript exons

ENST00000281471 — 7 exons

Exon	Start	End
ENSE00001323312	31728971	31729021
ENSE00001410029	31671142	31672377
ENSE00003563545	31697361	31697417
ENSE00003587199	31709293	31709425
ENSE00003627561	31697740	31697957
ENSE00003785336	31689007	31689118
ENSE00003789474	31701863	31702007

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 95.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3888 / max 175.3118, expressed in 1756 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130374	7.9799	1625
130376	3.5659	1306
130377	0.7769	327
130373	0.6364	198
130375	0.2743	129
130372	0.1093	53
130378	0.0460	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	95.27	gold quality
prefrontal cortex	UBERON:0000451	95.07	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.50	gold quality
anterior cingulate cortex	UBERON:0009835	93.36	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.19	gold quality
frontal cortex	UBERON:0001870	92.94	gold quality
neocortex	UBERON:0001950	92.81	gold quality
left testis	UBERON:0004533	92.41	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.15	gold quality
amygdala	UBERON:0001876	92.08	gold quality
cerebral cortex	UBERON:0000956	92.05	gold quality
right testis	UBERON:0004534	91.80	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.77	gold quality
right frontal lobe	UBERON:0002810	91.56	gold quality
hypothalamus	UBERON:0001898	91.20	gold quality
testis	UBERON:0000473	91.16	gold quality
spinal cord	UBERON:0002240	91.11	gold quality
nucleus accumbens	UBERON:0001882	90.76	gold quality
forebrain	UBERON:0001890	90.58	gold quality
temporal lobe	UBERON:0001871	90.51	gold quality
caudate nucleus	UBERON:0001873	90.50	gold quality
superior frontal gyrus	UBERON:0002661	90.44	gold quality
Ammon’s horn	UBERON:0001954	90.30	gold quality
sperm	CL:0000019	90.26	gold quality
putamen	UBERON:0001874	90.21	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.10	gold quality
ganglionic eminence	UBERON:0004023	90.07	gold quality
islet of Langerhans	UBERON:0000006	90.00	gold quality
primary visual cortex	UBERON:0002436	89.93	gold quality
endothelial cell	CL:0000115	89.89	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.85
E-MTAB-7303	no	283.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting AMN1, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-4639-5P	99.81	67.37	1028

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	amn1	ENSDARG00000070478
mus_musculus	Amn1	ENSMUSG00000068250
rattus_norvegicus	Amn1	ENSRNOG00000036917

Protein

Protein identifiers

Protein AMN1 homolog — Q8IY45 (reviewed: Q8IY45)

All UniProt accessions (7): Q8IY45, E9PHB0, F5GWF7, F5H1R2, F5H286, F5H3D1, F5H7U5

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with TASOR.

Similarity. Belongs to the AMN1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IY45-1	1	yes
Q8IY45-2	2

RefSeq proteins (3): NP_001106873, NP_001265340, NP_001265341 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006553	Leu-rich_rpt_Cys-con_subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR057207	FBXL15_LRR	Domain

Pfam: PF25372

UniProt features (2 total): chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IY45-F1	90.56	0.76

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 121 (showing top): GOBP_MACROMOLECULE_CATABOLIC_PROCESS, chr12p11, YAMASHITA_METHYLATED_IN_PROSTATE_CANCER, GOBP_SCF_DEPENDENT_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, BASAKI_YBX1_TARGETS_DN, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_SCF_UBIQUITIN_LIGASE_COMPLEX, GOCC_CELL_PROJECTION_MEMBRANE, GOCC_TRANSFERASE_COMPLEX, GOCC_MICROVILLUS, GOCC_MICROVILLUS_MEMBRANE, GOBP_PROTEOLYSIS, GOCC_PLASMA_MEMBRANE_REGION, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX

GO Biological Process (1): SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): SCF ubiquitin ligase complex (GO:0019005), microvillus membrane (GO:0031528)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
proteasome-mediated ubiquitin-dependent protein catabolic process	1
binding	1
cullin-RING ubiquitin ligase complex	1
microvillus	1
cell projection membrane	1

Protein interactions and networks

STRING

526 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AMN1	TRIM75	A6NK02	627
AMN1	FBXO33	Q7Z6M2	506
AMN1	TFF3	Q07654	464
AMN1	PSMF1	Q92530	448
AMN1	IFT81	Q8WYA0	419
AMN1	ORAI2	Q96SN7	417
AMN1	ORAI3	Q9BRQ5	413
AMN1	ZFAND5	O76080	408
AMN1	PEX19	P40855	397
AMN1	FAM110C	Q1W6H9	396
AMN1	FRMD7	Q6ZUT3	388
AMN1	SMPD2	O60906	387
AMN1	FLG	P20930	379
AMN1	TLK2	Q86UE8	374
AMN1	UPP1	Q16831	366

IntAct

5 interactions, top by confidence:

A	B	Type	Score
TCEAL1	CHEK1	psi-mi:“MI:0914”(association)	0.530
PRELID3A	TRIAP1	psi-mi:“MI:0914”(association)	0.530
AMN1	SUGT1	psi-mi:“MI:0915”(physical association)	0.400
PRELID3A	UBE3A	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): AMN1 (Affinity Capture-MS), AMN1 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), AMN1 (Affinity Capture-MS)

ESM2 similar proteins: A0JM56, A0JPI9, A4IHG1, A5PK13, D3YY91, F1ND48, O35125, Q13309, Q15813, Q24K06, Q32KP2, Q32KS0, Q32L08, Q32NT4, Q3KQF4, Q3KRC6, Q3UGP9, Q498T9, Q4U2V3, Q5BKY1, Q5DU41, Q5FVQ9, Q5PQJ7, Q5QJ74, Q5R8X9, Q5RBD9, Q5U378, Q66JT1, Q68F79, Q6GQN5, Q6NSJ5, Q6NU09, Q6P9F7, Q6WRX3, Q6ZNQ3, Q8C5W3, Q8CDN9, Q8CIV8, Q8IY45, Q8IZ02

Diamond homologs: B8JKV0, Q0P4D1, Q32L08, Q5R8X9, Q5U201, Q8IY45

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1901 predictions. Top by Δscore:

Variant	Effect	Δscore
12:31697418:CT:C	acceptor_loss	1.0000
12:31697820:A:C	donor_gain	1.0000
12:31709292:CCTCA:C	donor_gain	1.0000
12:31728969:A:AC	donor_gain	1.0000
12:31728970:C:CC	donor_gain	1.0000
12:31672374:TGAT:T	acceptor_gain	0.9900
12:31672374:TGATC:T	acceptor_loss	0.9900
12:31672375:GATC:G	acceptor_loss	0.9900
12:31672377:TC:T	acceptor_loss	0.9900
12:31672378:C:A	acceptor_loss	0.9900
12:31672378:C:CC	acceptor_gain	0.9900
12:31672379:T:G	acceptor_loss	0.9900
12:31689118:CCTA:C	acceptor_gain	0.9900
12:31697356:ATTAC:A	donor_loss	0.9900
12:31697357:TTACC:T	donor_loss	0.9900
12:31697358:TAC:T	donor_loss	0.9900
12:31697359:ACCTC:A	donor_loss	0.9900
12:31697360:C:A	donor_loss	0.9900
12:31697415:TAC:T	acceptor_gain	0.9900
12:31697418:C:CC	acceptor_gain	0.9900
12:31697735:TTTA:T	donor_loss	0.9900
12:31697736:TTA:T	donor_loss	0.9900
12:31697737:TA:T	donor_loss	0.9900
12:31697738:A:AT	donor_loss	0.9900
12:31697739:C:CA	donor_loss	0.9900
12:31697819:A:AC	donor_gain	0.9900
12:31697819:AAG:A	donor_gain	0.9900
12:31701858:CATA:C	donor_loss	0.9900
12:31701859:ATACC:A	donor_loss	0.9900
12:31701860:TACCT:T	donor_loss	0.9900

AlphaMissense

1664 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:31672318:A:G	W255R	0.989
12:31672318:A:T	W255R	0.989
12:31709353:T:A	K37N	0.985
12:31709353:T:G	K37N	0.985
12:31689022:A:G	C230R	0.979
12:31697768:A:G	L169S	0.972
12:31697880:C:G	G132R	0.972
12:31697880:C:T	G132R	0.972
12:31697392:A:G	L187P	0.971
12:31701863:C:G	G106R	0.969
12:31701863:C:T	G106R	0.969
12:31689090:A:G	L207P	0.968
12:31697404:C:T	G183D	0.968
12:31709345:A:G	L40P	0.968
12:31672316:C:A	W255C	0.967
12:31672316:C:G	W255C	0.967
12:31689098:A:C	C204W	0.967
12:31697759:A:T	V172D	0.966
12:31709315:A:T	I50K	0.965
12:31697864:G:T	A137E	0.964
12:31689066:A:T	V215D	0.962
12:31689075:A:T	V212D	0.962
12:31697867:A:G	L136P	0.962
12:31697392:A:T	L187H	0.960
12:31701910:A:G	L90S	0.960
12:31689020:G:C	C230W	0.959
12:31697876:A:T	V133D	0.958
12:31701976:A:G	L68P	0.958
12:31697365:A:G	L196S	0.957
12:31697405:C:G	G183R	0.957

dbSNP variants (sampled 300 via entrez): RS1000050426 (12:31701475 T>G), RS1000106667 (12:31682737 C>A), RS1000161298 (12:31689503 C>G), RS1000201362 (12:31696167 A>G), RS1000209549 (12:31682528 C>T), RS1000274950 (12:31696497 T>C), RS1000336454 (12:31729782 G>A), RS1000353432 (12:31722559 C>A), RS1000434325 (12:31703455 TC>T), RS1000471663 (12:31682957 G>A), RS1000550420 (12:31694701 G>A), RS1000614169 (12:31710440 T>C), RS1000643732 (12:31696231 C>T), RS1000682505 (12:31708689 G>A), RS1000716213 (12:31701403 C>T)

Disease associations

OMIM: gene MIM:620564 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002064_1	Corneal astigmatism	1.000000e-06
GCST005168_4	Systolic blood pressure	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Air Pollutants	increases abundance, increases expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
sotorasib	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	decreases expression, affects cotreatment	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Gallic Acid	increases expression	1
Lead	affects splicing	1
Methyl Methanesulfonate	decreases expression	1
Phenobarbital	increases expression	1
Quercetin	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1
Genistein	increases expression	1

Clinical trials (associated diseases)

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