AADACL3

Summary

AADACL3 (arylacetamide deacetylase like 3, HGNC:32037) is a protein-coding gene on chromosome 1p36.21, encoding Arylacetamide deacetylase-like 3 (Q5VUY0).

Predicted to enable carboxylic ester hydrolase activity. Predicted to be located in membrane.

Source: NCBI Gene 126767 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 78 total — 11 pathogenic, 5 likely-pathogenic
• MANE Select transcript: NM_001103170

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32037
Approved symbol	AADACL3
Name	arylacetamide deacetylase like 3
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000001887
Ensembl gene	ENSG00000188984
Ensembl biotype	protein_coding
Entrez	126767

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000359318, ENST00000620146

RefSeq mRNA: 1 — MANE Select: NM_001103170 NM_001103170

CCDS: CCDS41253

Canonical transcript exons

ENST00000359318 — 4 exons

Exon	Start	End
ENSE00001469762	12720883	12720946
ENSE00001827024	12716110	12716344
ENSE00001844449	12725222	12728760
ENSE00003769787	12719475	12719691

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 67.68.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0625 / max 13.5704, expressed in 22 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
747	0.0625	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	67.68	gold quality
skin of abdomen	UBERON:0001416	44.45	gold quality
colonic epithelium	UBERON:0000397	41.14	gold quality
zone of skin	UBERON:0000014	40.90	gold quality
bone marrow cell	CL:0002092	39.95	gold quality
sural nerve	UBERON:0015488	39.31	gold quality
stromal cell of endometrium	CL:0002255	38.82	gold quality
bone marrow	UBERON:0002371	38.12	gold quality
skin of leg	UBERON:0001511	37.74	gold quality
skeletal muscle tissue	UBERON:0001134	37.62	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
muscle tissue	UBERON:0002385	34.17	gold quality
granulocyte	CL:0000094	34.08	gold quality
monocyte	CL:0000576	33.99	gold quality
leukocyte	CL:0000738	33.88	gold quality
mucosa of transverse colon	UBERON:0004991	33.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
blood	UBERON:0000178	31.91	gold quality
liver	UBERON:0002107	31.65	gold quality
urinary bladder	UBERON:0001255	31.62	gold quality
subcutaneous adipose tissue	UBERON:0002190	30.71	silver quality
adipose tissue	UBERON:0001013	30.07	silver quality
calcaneal tendon	UBERON:0003701	29.98	gold quality
prefrontal cortex	UBERON:0000451	29.65	gold quality
muscle of leg	UBERON:0001383	29.48	gold quality
superior frontal gyrus	UBERON:0002661	29.46	gold quality
vermiform appendix	UBERON:0001154	29.19	gold quality
adrenal tissue	UBERON:0018303	29.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

73 targeting AADACL3, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-1287-3P	99.63	66.93	492
HSA-MIR-4663	99.62	65.33	957

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-193c22.1	ENSDARG00000093687
mus_musculus	Aadacl3	ENSMUSG00000078507
rattus_norvegicus	Aadacl3	ENSRNOG00000026613
caenorhabditis_elegans		WBGENE00009186
caenorhabditis_elegans		WBGENE00011642
caenorhabditis_elegans		WBGENE00017515

Paralogs (5): AADAC (ENSG00000114771), NCEH1 (ENSG00000144959), AFMID (ENSG00000183077), AADACL2 (ENSG00000197953), AADACL4 (ENSG00000204518)

Protein

Protein identifiers

Arylacetamide deacetylase-like 3 — Q5VUY0 (reviewed: Q5VUY0)

All UniProt accessions (1): Q5VUY0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the ‘GDXG’ lipolytic enzyme family.

RefSeq proteins (1): NP_001096640* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013094	AB_hydrolase_3	Domain
IPR017157	Arylacetamide_deacetylase	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR050300	GDXG_lipolytic_enzyme	Family

Pfam: PF07859

UniProt features (11 total): sequence variant 6, active site 3, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VUY0-F1	94.56	0.87

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): 193; 347; 377

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 20 (showing top): GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY, chr1p36, MIR32_5P, MIR92A_3P, MIR92B_3P, MIR367_3P, MIR363_3P, MIR25_3P, MIR224_5P, MIR3928_3P, MIR634, MIR6769B_3P, MIR4723_3P, MIR3183

GO Biological Process (0):

GO Molecular Function (2): carboxylic ester hydrolase activity (GO:0052689), hydrolase activity (GO:0016787)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hydrolase activity, acting on ester bonds	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1072 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AADACL3	CFAP107	Q8N1D5	668
AADACL3	OR6J1	Q8NGC5	480
AADACL3	PRXL2C	Q7RTV5	460
AADACL3	SPINK9	Q5DT21	453
AADACL3	ERICH6	Q7L0X2	403
AADACL3	PM20D1	Q6GTS8	401
AADACL3	AGAP4	Q96P64	399
AADACL3	URAD	A6NGE7	384
AADACL3	EFCAB5	A4FU69	377
AADACL3	PBDC1	Q9BVG4	370
AADACL3	CCDC149	Q6ZUS6	369
AADACL3	AAR2	Q9Y312	367
AADACL3	FRG2C	A6NGY1	366
AADACL3	C9J5N1	C9J5N1	366
AADACL3	RIPOR3	Q96MK2	365

IntAct

0 interactions, top by confidence:

BioGRID (2): AADACL3 (PCA), AADACL3 (Affinity Capture-MS)

ESM2 similar proteins: A2A7Z8, A7LB60, P08910, P0DKC5, P0DKC6, P22760, P70683, P83006, Q05AK6, Q0P5B7, Q13093, Q14032, Q1LZ86, Q28017, Q32LS6, Q4R2Y9, Q4V8A1, Q502J0, Q5EA42, Q5PPS7, Q5VUY0, Q5VUY2, Q5XI64, Q5ZJL8, Q5ZKL5, Q60963, Q63276, Q6DHN0, Q6GLL2, Q6IE26, Q6P093, Q7L211, Q7M370, Q7SY73, Q7Z5M8, Q802V6, Q80UX8, Q8BM81, Q8IUS5, Q8R2Y0

Diamond homologs: A2A7Z8, B2GV54, O53424, P15304, P16386, P22760, P54310, P95125, P9WK86, P9WK87, Q0P5B7, Q1JQE6, Q5R8Y5, Q5VUY0, Q5VUY2, Q68J42, Q6L545, Q6P093, Q6PIU2, Q7M370, Q8BLF1, Q8BM81, Q8KQK1, Q940G6, Q99PG0, Q9QZH8, A0A0H5BMX5, A0A2P1GIY2, A1A8E2, A7ZIN6, A7ZXD4, B1IZB8, B1LJN4, B1XFR3, B2U4S9, B5Z3Y7, B6I0B9, B7L7A1, B7M3W8, B7MDZ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	5
Uncertain significance	55
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	Pathogenic
148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	Pathogenic
154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	Pathogenic
253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	Pathogenic
395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	Pathogenic
59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	Pathogenic
59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	Pathogenic
59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	Pathogenic
59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	Pathogenic
59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	Pathogenic
638125	GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3	Pathogenic
148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	Likely pathogenic
153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	Likely pathogenic
253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	Likely pathogenic
441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	Likely pathogenic
441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	Likely pathogenic

SpliceAI

533 predictions. Top by Δscore:

Variant	Effect	Δscore
1:12719534:A:G	acceptor_gain	1.0000
1:12719683:G:GT	donor_gain	1.0000
1:12719683:G:T	donor_gain	1.0000
1:12719684:GAGTT:G	donor_gain	1.0000
1:12719690:GA:G	donor_gain	1.0000
1:12719692:G:GG	donor_gain	1.0000
1:12721917:T:G	donor_gain	1.0000
1:12725217:TTTA:T	acceptor_loss	1.0000
1:12725219:TAGT:T	acceptor_loss	1.0000
1:12725220:A:AG	acceptor_gain	1.0000
1:12725221:G:GG	acceptor_gain	1.0000
1:12725221:GT:G	acceptor_gain	1.0000
1:12725221:GTT:G	acceptor_gain	1.0000
1:12725221:GTTAC:G	acceptor_gain	1.0000
1:12716342:TGGGT:T	donor_loss	0.9900
1:12716343:GG:G	donor_gain	0.9900
1:12716344:GG:G	donor_gain	0.9900
1:12716344:GGTG:G	donor_loss	0.9900
1:12716345:GTG:G	donor_loss	0.9900
1:12719529:A:AG	acceptor_gain	0.9900
1:12719530:T:G	acceptor_gain	0.9900
1:12719533:A:AG	acceptor_gain	0.9900
1:12719657:C:CG	donor_gain	0.9900
1:12719666:T:TA	donor_gain	0.9900
1:12719667:G:GA	donor_gain	0.9900
1:12721916:GT:G	donor_gain	0.9900
1:12721917:TT:T	donor_gain	0.9900
1:12725221:GTTA:G	acceptor_gain	0.9900
1:12716345:G:GG	donor_gain	0.9800
1:12716346:T:G	donor_loss	0.9800

AlphaMissense

2682 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:12725799:A:C	S343R	0.977
1:12725801:C:A	S343R	0.977
1:12725801:C:G	S343R	0.977
1:12725979:T:C	F403L	0.919
1:12725981:T:A	F403L	0.919
1:12725981:T:G	F403L	0.919
1:12725270:C:G	C166W	0.908
1:12725290:T:C	F173S	0.901
1:12725898:T:C	F376L	0.900
1:12725900:C:A	F376L	0.900
1:12725900:C:G	F376L	0.900
1:12725289:T:C	F173L	0.896
1:12725291:C:A	F173L	0.896
1:12725291:C:G	F173L	0.896
1:12720934:T:A	V146D	0.895
1:12719610:T:G	Y102D	0.888
1:12725652:T:C	F294L	0.884
1:12725654:T:A	F294L	0.884
1:12725654:T:G	F294L	0.884
1:12725421:G:C	A217P	0.875
1:12725843:G:C	K357N	0.871
1:12725843:G:T	K357N	0.871
1:12725877:T:A	W369R	0.870
1:12725877:T:C	W369R	0.870
1:12725349:A:C	S193R	0.864
1:12725351:T:A	S193R	0.864
1:12725351:T:G	S193R	0.864
1:12720927:T:C	S144P	0.863
1:12725332:T:A	V187D	0.856
1:12720914:C:G	C139W	0.847

dbSNP variants (sampled 300 via entrez): RS1000046975 (1:12726397 G>A), RS1000349786 (1:12725224 A>G), RS1000435954 (1:12724965 T>G), RS1000932118 (1:12714201 G>T), RS1001471388 (1:12714433 A>C), RS1001777375 (1:12715569 A>C,G), RS1001841216 (1:12724782 G>T), RS1002245991 (1:12725052 T>C), RS1002261794 (1:12719275 G>A,T), RS1002386695 (1:12718745 C>G,T), RS1002527936 (1:12723658 T>C), RS1002687764 (1:12717748 G>A,T), RS1002735219 (1:12718226 T>C), RS1002742506 (1:12719062 A>G), RS1002846165 (1:12723005 T>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

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: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	increases expression	1
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Copper	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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