ABHD1

Summary

ABHD1 (abhydrolase domain containing 1, HGNC:17553) is a protein-coding gene on chromosome 2p23.3, encoding Protein ABHD1 (Q96SE0).

This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions.

Source: NCBI Gene 84696 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 95 total — 5 pathogenic
• MANE Select transcript: NM_032604

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17553
Approved symbol	ABHD1
Name	abhydrolase domain containing 1
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	LABH1, FLJ36128
Ensembl gene	ENSG00000143994
Ensembl biotype	protein_coding
OMIM	612195
Entrez	84696

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay

ENST00000316470, ENST00000416071, ENST00000420647, ENST00000448950, ENST00000489120, ENST00000496739, ENST00000621324, ENST00000622011, ENST00000971723

RefSeq mRNA: 1 — MANE Select: NM_032604 NM_032604

CCDS: CCDS1736

Canonical transcript exons

ENST00000316470 — 9 exons

Exon	Start	End
ENSE00000963084	27129316	27129361
ENSE00000963087	27130105	27130153
ENSE00000963088	27130251	27130416
ENSE00001216779	27128945	27129127
ENSE00001894137	27123815	27124062
ENSE00003479996	27129514	27129626
ENSE00003519352	27128441	27128601
ENSE00003530961	27130533	27130812
ENSE00003661458	27129754	27129927

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 96.41.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6277 / max 176.3742, expressed in 279 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19325	0.5710	277
19324	0.0567	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	96.41	gold quality
sperm	CL:0000019	96.39	gold quality
right testis	UBERON:0004534	96.12	gold quality
testis	UBERON:0000473	92.63	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.69	gold quality
apex of heart	UBERON:0002098	79.19	gold quality
tibialis anterior	UBERON:0001385	78.76	silver quality
right lobe of liver	UBERON:0001114	78.59	gold quality
muscle of leg	UBERON:0001383	77.85	gold quality
gastrocnemius	UBERON:0001388	77.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.62	gold quality
adult organism	UBERON:0007023	75.69	gold quality
granulocyte	CL:0000094	73.98	gold quality
ileal mucosa	UBERON:0000331	73.95	silver quality
heart left ventricle	UBERON:0002084	72.72	gold quality
right atrium auricular region	UBERON:0006631	72.39	gold quality
cardiac ventricle	UBERON:0002082	72.06	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	71.90	gold quality
putamen	UBERON:0001874	71.26	gold quality
nucleus accumbens	UBERON:0001882	71.16	gold quality
cardiac atrium	UBERON:0002081	70.91	gold quality
deltoid	UBERON:0001476	70.79	silver quality
caudate nucleus	UBERON:0001873	70.67	gold quality
anterior cingulate cortex	UBERON:0009835	69.91	gold quality
heart	UBERON:0000948	69.43	gold quality
left adrenal gland cortex	UBERON:0035825	69.35	gold quality
spinal cord	UBERON:0002240	69.31	gold quality
amygdala	UBERON:0001876	69.09	gold quality
right adrenal gland	UBERON:0001233	68.76	gold quality
right adrenal gland cortex	UBERON:0035827	68.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	191.01
E-ANND-3	yes	2.51

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• The mouse ortholog of ABHD1 is sequenced and tissue-specific mRNA expression is described. (PMID:11922611)
• Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children. (PMID:34545688)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Abhd1	ENSMUSG00000006638
rattus_norvegicus	Abhd1	ENSRNOG00000025689
drosophila_melanogaster	Hydr1	FBGN0033382
caenorhabditis_elegans		WBGENE00013358
caenorhabditis_elegans		WBGENE00016644

Paralogs (3): ABHD2 (ENSG00000140526), ABHD3 (ENSG00000158201), ABHD15 (ENSG00000168792)

Protein

Protein identifiers

Protein ABHD1 — Q96SE0 (reviewed: Q96SE0)

Alternative names: Alpha/beta hydrolase domain-containing protein 1, Lung alpha/beta hydrolase 1

All UniProt accessions (4): Q96SE0, A0A140VJD1, C9J8C2, F8WBB3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Ubiquitously expressed.

Similarity. Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96SE0-1	1	yes
Q96SE0-3	2

RefSeq proteins (1): NP_115993* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000073	AB_hydrolase_1	Domain
IPR000952	AB_hydrolase_4_CS	Conserved_site
IPR012020	ABHD4	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR050960	AB_hydrolase_4_sf	Family

Pfam: PF00561

UniProt features (12 total): sequence variant 3, active site 3, splice variant 2, chain 1, transmembrane region 1, domain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96SE0-F1	90.75	0.83

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): 203 (charge relay system); 329 (charge relay system); 358 (charge relay system)

Glycosylation sites (1): 10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_FATTY_ACID_CATABOLIC_PROCESS, AP2_Q3, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, YY1_Q6, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, YY1_02, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, FUJIWARA_PARK2_HEPATOCYTE_PROLIFERATION_UP, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, COATES_MACROPHAGE_M1_VS_M2_UP, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS

GO Biological Process (2): medium-chain fatty acid biosynthetic process (GO:0051792), medium-chain fatty acid catabolic process (GO:0051793)

GO Molecular Function (5): acetylesterase activity (GO:0008126), monoacylglycerol lipase activity (GO:0047372), protein binding (GO:0005515), hydrolase activity (GO:0016787), carboxylic ester hydrolase activity (GO:0052689)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
medium-chain fatty acid metabolic process	2
fatty acid biosynthetic process	1
fatty acid catabolic process	1
short-chain carboxylesterase activity	1
lipase activity	1
carboxylic ester hydrolase activity	1
binding	1
catalytic activity	1
hydrolase activity, acting on ester bonds	1
cellular anatomical structure	1

Protein interactions and networks

STRING

762 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD1	PREB	Q9HCU5	854
ABHD1	ABHD16B	Q9H3Z7	629
ABHD1	ABHD11	Q8NFV4	588
ABHD1	ABHD10	Q9NUJ1	530
ABHD1	ABHD13	Q7L211	519
ABHD1	ABHD16A	O95870	502
ABHD1	C3orf18	Q9UK00	501
ABHD1	ABHD12B	Q7Z5M8	490
ABHD1	FAM3A	P98173	478
ABHD1	ABHD8	Q96I13	475
ABHD1	ABHD14A	Q9BUJ0	475
ABHD1	UNC45A	Q9H3U1	456
ABHD1	HEATR1	Q9H583	454
ABHD1	ABHD18	Q0P651	449
ABHD1	ABHD12	Q8N2K0	447

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ABHD1	KASH5	psi-mi:“MI:0915”(physical association)	0.560
KASH5	ABHD1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (1): CCDC155 (Two-hybrid)

ESM2 similar proteins: A2AI05, D3ZDK7, E1BNQ4, O55240, O70249, P21139, P24298, P25409, P50336, P51175, P56602, P97849, Q03426, Q1JPJ0, Q27979, Q2KJF7, Q3T0A0, Q3ZKN0, Q498R1, Q4JIJ2, Q5E9M9, Q5E9T8, Q5R7A2, Q5RK23, Q60714, Q60HD5, Q6AYG0, Q6NRG5, Q6P1M0, Q6P3E7, Q6PCB7, Q6PFP6, Q7TSA0, Q8BNV1, Q8BZG5, Q8C1A3, Q8CHP8, Q8IXI1, Q8JZN7, Q8QZR5

Diamond homologs: P38295, P45524, Q02891, Q03649, Q3T0A0, Q40863, Q54H38, Q5RK23, Q91ZH7, Q96SE0, Q9QZC8, Q0VC00, Q18610, Q8WU67

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	80
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	Pathogenic
153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	Pathogenic
153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	Pathogenic
3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	Pathogenic
4682550	GRCh37/hg19 2p25.3-23.1(chr2:12771-30565600)x3	Pathogenic

SpliceAI

1093 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27124058:TTCAG:T	donor_loss	1.0000
2:27124059:TCAGG:T	donor_loss	1.0000
2:27124060:CAG:C	donor_loss	1.0000
2:27124061:AGGT:A	donor_loss	1.0000
2:27124062:GGTG:G	donor_loss	1.0000
2:27124063:G:GA	donor_loss	1.0000
2:27124064:T:G	donor_loss	1.0000
2:27128937:A:AG	acceptor_gain	1.0000
2:27129078:G:GT	donor_gain	1.0000
2:27129128:G:GG	donor_gain	1.0000
2:27129133:GA:G	donor_gain	1.0000
2:27130225:A:AG	acceptor_gain	1.0000
2:27130226:G:GC	acceptor_gain	1.0000
2:27130226:GC:G	acceptor_gain	1.0000
2:27130226:GCCT:G	acceptor_gain	1.0000
2:27130226:GCCTA:G	acceptor_gain	1.0000
2:27130413:TGTGG:T	donor_loss	1.0000
2:27130414:GTG:G	donor_gain	1.0000
2:27130416:GGT:G	donor_loss	1.0000
2:27130417:G:C	donor_loss	1.0000
2:27130417:G:GG	donor_gain	1.0000
2:27130418:TGAG:T	donor_loss	1.0000
2:27130419:GAG:G	donor_loss	1.0000
2:27130532:GCCC:G	acceptor_gain	1.0000
2:27128938:A:G	acceptor_gain	0.9900
2:27128943:A:AG	acceptor_gain	0.9900
2:27128944:G:GA	acceptor_gain	0.9900
2:27129072:AGCC:A	donor_gain	0.9900
2:27129100:T:G	donor_gain	0.9900
2:27129117:G:T	donor_gain	0.9900

AlphaMissense

2614 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27130607:T:C	F361L	0.903
2:27130609:C:A	F361L	0.903
2:27130609:C:G	F361L	0.903
2:27128513:T:C	F63L	0.899
2:27128515:C:A	F63L	0.899
2:27128515:C:G	F63L	0.899
2:27130296:T:C	F296L	0.897
2:27130298:T:A	F296L	0.897
2:27130298:T:G	F296L	0.897
2:27129526:T:C	F173L	0.841
2:27129528:T:A	F173L	0.841
2:27129528:T:G	F173L	0.841
2:27130401:T:C	F331L	0.808
2:27130403:C:A	F331L	0.808
2:27130403:C:G	F331L	0.808
2:27129072:A:C	S135R	0.806
2:27129074:C:A	S135R	0.806
2:27129074:C:G	S135R	0.806
2:27129043:T:A	V125E	0.796
2:27130679:T:C	F385L	0.774
2:27130681:C:A	F385L	0.774
2:27130681:C:G	F385L	0.774
2:27129321:T:A	V155D	0.765
2:27129547:G:C	D180H	0.748
2:27128528:T:A	W68R	0.736
2:27128528:T:C	W68R	0.736
2:27129884:T:C	F250L	0.732
2:27129886:C:A	F250L	0.732
2:27129886:C:G	F250L	0.732
2:27130269:T:C	F287L	0.728

dbSNP variants (sampled 300 via entrez): RS1000318637 (2:27124425 C>G,T), RS1000427670 (2:27130334 A>T), RS1000491521 (2:27123563 G>A), RS1001594786 (2:27123328 C>T), RS1001959894 (2:27123218 C>T), RS1001961396 (2:27122356 T>C,G), RS1002043974 (2:27123560 T>A,C), RS1002097463 (2:27123464 T>C), RS1002351516 (2:27121863 C>T), RS1003096949 (2:27122265 G>T), RS1003959219 (2:27122638 A>C), RS1004429643 (2:27128269 A>G,T), RS1004578441 (2:27124348 A>G), RS1004827103 (2:27127936 G>A), RS1005478818 (2:27122981 G>A)

Disease associations

OMIM: gene MIM:612195 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST010697_14	Cortical surface area (min-P)	2.000000e-09
GCST010698_75	Subcortical volume (min-P)	2.000000e-13
GCST010699_41	Brain morphology (min-P)	2.000000e-08
GCST010700_38	Cortical thickness (MOSTest)	3.000000e-08
GCST010701_56	Cortical surface area (MOSTest)	4.000000e-16
GCST010702_20	Subcortical volume (MOSTest)	2.000000e-64
GCST010703_76	Brain morphology (MOSTest)	1.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	2
Silicon Dioxide	decreases expression	2
bisphenol A	affects cotreatment, decreases methylation	1
ethyl-p-hydroxybenzoate	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Methotrexate	decreases expression	1
Niclosamide	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Cadmium Chloride	decreases expression	1
Magnetite Nanoparticles	decreases expression	1

Clinical trials (associated diseases)

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