AADACL4

Summary

AADACL4 (arylacetamide deacetylase like 4, HGNC:32038) is a protein-coding gene on chromosome 1p36.21, encoding Arylacetamide deacetylase-like 4 (Q5VUY2).

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

Source: NCBI Gene 343066 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 79 total — 1 pathogenic
• MANE Select transcript: NM_001013630

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32038
Approved symbol	AADACL4
Name	arylacetamide deacetylase like 4
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	OTTHUMG00000001889
Ensembl gene	ENSG00000204518
Ensembl biotype	protein_coding
Entrez	343066

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000376221

RefSeq mRNA: 1 — MANE Select: NM_001013630 NM_001013630

CCDS: CCDS30590

Canonical transcript exons

ENST00000376221 — 4 exons

Exon	Start	End
ENSE00001368020	12665961	12667076
ENSE00001375909	12661791	12661854
ENSE00001387205	12651123	12651339
ENSE00001469777	12644085	12644714

Expression profiles

Bgee: expression breadth broad, 47 present calls, max score 54.32.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
omental fat pad	UBERON:0010414	54.32	gold quality
metanephros cortex	UBERON:0010533	52.35	gold quality
endometrium	UBERON:0001295	48.60	gold quality
adult mammalian kidney	UBERON:0000082	46.78	gold quality
myometrium	UBERON:0001296	45.43	gold quality
placenta	UBERON:0001987	45.03	gold quality
smooth muscle tissue	UBERON:0001135	44.99	gold quality
endocervix	UBERON:0000458	44.68	gold quality
kidney	UBERON:0002113	44.21	gold quality
body of uterus	UBERON:0009853	43.64	gold quality
lymph node	UBERON:0000029	43.54	gold quality
stromal cell of endometrium	CL:0002255	43.34	silver quality
left uterine tube	UBERON:0001303	43.33	gold quality
muscle layer of sigmoid colon	UBERON:0035805	43.23	gold quality
vagina	UBERON:0000996	42.93	gold quality
mucosa of transverse colon	UBERON:0004991	42.84	silver quality
cortex of kidney	UBERON:0001225	42.28	gold quality
uterine cervix	UBERON:0000002	41.59	gold quality
colonic epithelium	UBERON:0000397	41.55	gold quality
prostate gland	UBERON:0002367	40.96	gold quality
ectocervix	UBERON:0012249	40.27	gold quality
urinary bladder	UBERON:0001255	39.95	gold quality
muscle tissue	UBERON:0002385	39.35	gold quality
fallopian tube	UBERON:0003889	38.58	gold quality
adipose tissue	UBERON:0001013	38.40	gold quality
skeletal muscle tissue	UBERON:0001134	38.13	gold quality
colon	UBERON:0001155	37.79	gold quality
right adrenal gland cortex	UBERON:0035827	37.58	silver quality
spleen	UBERON:0002106	37.43	gold quality
fundus of stomach	UBERON:0001160	36.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting AADACL4, 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-4533	100.00	69.48	2758
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-522-3P	98.91	68.56	1817
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-4260	98.78	65.37	848
HSA-MIR-5699-5P	97.36	67.03	1014
HSA-MIR-7161-3P	96.79	68.79	798
HSA-MIR-5586-5P	96.29	68.02	685

Cross-species orthologs

13 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-193c22.1	ENSDARG00000093687
mus_musculus	Aadacl4fm1	ENSMUSG00000028593
mus_musculus	AAdacl4fm3	ENSMUSG00000041735
mus_musculus	Aadacl4	ENSMUSG00000070609
mus_musculus	Aadacl4fm5	ENSMUSG00000078504
mus_musculus	Aadacl4fm4	ENSMUSG00000078505
rattus_norvegicus	Aadacl4fm1	ENSRNOG00000026782
rattus_norvegicus	AAdacl4fm3l1	ENSRNOG00000037027
rattus_norvegicus	Aadacl4	ENSRNOG00000037030
rattus_norvegicus	AAdacl4fm3	ENSRNOG00000042808
caenorhabditis_elegans		WBGENE00009186
caenorhabditis_elegans		WBGENE00011642
caenorhabditis_elegans		WBGENE00017515

Paralogs (5): AADAC (ENSG00000114771), NCEH1 (ENSG00000144959), AFMID (ENSG00000183077), AADACL3 (ENSG00000188984), AADACL2 (ENSG00000197953)

Protein

Protein identifiers

Arylacetamide deacetylase-like 4 — Q5VUY2 (reviewed: Q5VUY2)

All UniProt accessions (1): Q5VUY2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

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

RefSeq proteins (1): NP_001013652* (*=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 (10 total): active site 3, topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VUY2-F1	96.05	0.94

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

Glycosylation sites (2): 168, 269

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 9 (showing top): GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY, chr1p36, PEDRIOLI_MIR31_TARGETS_UP, MIR95_5P, MIR539_5P, MIR1290, MIR6716_5P, DESCARTES_MAIN_FETAL_IGFBP1_DKK1_POSITIVE_CELLS

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

942 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AADACL4	RNF223	E7ERA6	623
AADACL4	PRXL2C	Q7RTV5	488
AADACL4	RNF148	Q8N7C7	422
AADACL4	C9J5N1	C9J5N1	406
AADACL4	TIFAB	Q6ZNK6	400
AADACL4	ELOF1	P60002	393
AADACL4	AAGAB	Q6PD74	388
AADACL4	AAR2	Q9Y312	386
AADACL4	AAMDC	Q9H7C9	372
AADACL4	A4GNT	Q9UNA3	371
AADACL4	QTRT2	Q9H974	370
AADACL4	AARSD1	Q9BTE6	363
AADACL4	TLX2	O43763	358
AADACL4	ALDH5A1	P51649	348
AADACL4	ABAT	P80404	348

IntAct

2 interactions, top by confidence:

A	B	Type	Score
P		psi-mi:“MI:0914”(association)	0.350

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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	64
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	Pathogenic

SpliceAI

836 predictions. Top by Δscore:

Variant	Effect	Δscore
1:12644712:TTGG:T	donor_loss	0.9900
1:12644714:GGT:G	donor_loss	0.9900
1:12644715:G:GA	donor_loss	0.9900
1:12644715:G:GG	donor_gain	0.9900
1:12644716:TGAG:T	donor_loss	0.9900
1:12644717:GAGT:G	donor_loss	0.9900
1:12650376:ATT:A	acceptor_gain	0.9900
1:12651337:TGGGT:T	donor_loss	0.9900
1:12651338:GG:G	donor_gain	0.9900
1:12651339:GG:G	donor_gain	0.9900
1:12651340:G:GC	donor_loss	0.9900
1:12651341:T:TT	donor_loss	0.9900
1:12664998:GCT:G	donor_gain	0.9900
1:12665956:TTTAG:T	acceptor_loss	0.9900
1:12665957:TTA:T	acceptor_loss	0.9900
1:12665960:G:GT	acceptor_loss	0.9900
1:12644673:T:G	donor_gain	0.9800
1:12644711:TTTG:T	donor_gain	0.9800
1:12650376:A:AG	acceptor_gain	0.9800
1:12650377:T:G	acceptor_gain	0.9800
1:12651117:CAACA:C	acceptor_loss	0.9800
1:12651120:CA:C	acceptor_loss	0.9800
1:12651121:A:T	acceptor_loss	0.9800
1:12651122:GGGGA:G	acceptor_gain	0.9800
1:12651313:G:GT	donor_gain	0.9800
1:12651331:G:GT	donor_gain	0.9800
1:12651332:GAGCC:G	donor_gain	0.9800
1:12651340:G:GG	donor_gain	0.9800
1:12665959:A:AG	acceptor_gain	0.9800
1:12665960:G:GG	acceptor_gain	0.9800

AlphaMissense

2666 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:12666538:A:C	S343R	0.987
1:12666540:C:A	S343R	0.987
1:12666540:C:G	S343R	0.987
1:12666088:A:C	S193R	0.938
1:12666090:C:A	S193R	0.938
1:12666090:C:G	S193R	0.938
1:12666590:T:C	L360S	0.930
1:12666679:T:C	F390L	0.928
1:12666681:C:A	F390L	0.928
1:12666681:C:G	F390L	0.928
1:12666587:G:C	R359P	0.922
1:12666560:G:C	R350P	0.921
1:12666637:T:C	F376L	0.917
1:12666639:T:A	F376L	0.917
1:12666639:T:G	F376L	0.917
1:12666028:T:C	F173L	0.915
1:12666030:C:A	F173L	0.915
1:12666030:C:G	F173L	0.915
1:12666536:T:A	V342E	0.915
1:12666029:T:C	F173S	0.914
1:12666160:G:C	A217P	0.910
1:12666562:G:C	D351H	0.909
1:12666391:T:C	F294L	0.906
1:12666393:T:A	F294L	0.906
1:12666393:T:G	F294L	0.906
1:12651294:G:C	G114R	0.901
1:12651123:G:A	G57R	0.897
1:12651123:G:C	G57R	0.897
1:12666568:A:C	S353R	0.894
1:12666570:C:A	S353R	0.894

dbSNP variants (sampled 300 via entrez): RS1000070273 (1:12662374 T>C), RS1000108427 (1:12643497 C>T), RS1000129460 (1:12665348 G>A), RS1000194867 (1:12665585 A>G), RS1000310995 (1:12665803 C>T), RS1000393608 (1:12660087 G>C), RS1000434004 (1:12654300 T>C,G), RS1000448152 (1:12648853 G>A,T), RS1000594952 (1:12643845 C>T), RS1000677548 (1:12661105 G>A), RS1000736960 (1:12659817 T>C), RS1000777134 (1:12655423 G>A), RS1000830161 (1:12655796 C>G), RS1000895024 (1:12660181 C>A,T), RS1001050888 (1:12644953 T>G)

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

1 associations (top):

Study	Trait	p-value
GCST001762_123	Obesity-related traits	8.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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