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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ABHD1
abhydrolase domain containing 1
Chromosome 2 · 2p23.3
NCBI Gene: 84696Ensembl: ENSG00000143994.15HGNC: HGNC:17553UniProt: A0A140VJD1
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingacetylesterase activitymonoacylglycerol lipase activitymedium-chain fatty acid biosynthetic processneurodegenerative diseaseendometriosisAlzheimer diseaseHeadache
✦AI Summary

ABHD1 (abhydrolase domain containing 1) is a 405-residue protein encoded by a nine-exon gene on chromosome 2.3 that contains a catalytic triad characteristic of serine proteases 1. The protein exhibits acetylesterase and monoacylglycerol lipase activities, participating in medium-chain fatty acid biosynthesis and catabolism [NCBI annotation]. ABHD1 shows tissue-specific expression patterns, with high levels in skeletal muscle and testis but low expression in spleen and fibroblasts 1. A critical function of ABHD1 involves mitochondrial tRNA modification: the protein acts as a dioxygenase that oxidizes m5C34 methylcytosine at the wobble position of mitochondrial tRNAMet to generate f5C34, an essential modification for proper mitochondrial translation of methionine codons 2. This modification allows the single mitochondrial tRNAMet to recognize different methionine-encoding codons, and ABHD1 depletion severely impairs mitochondrial translation 2. Additionally, ABHD1 interferes with intestinal stem cell proliferation and migration 3, and genetic variants in ABHD1 (rs2304678) are associated with increased susceptibility to Hirschsprung disease, particularly total colonic aganglionosis in Southern Chinese children 3. The shared polyadenylation signal with the SEC12 gene suggests unique regulation of ABHD1 expression 1.

Sources cited
1
ABHD1 gene structure: 9 exons on chromosome 2p23.3, encodes 405-residue protein with catalytic triad; tissue expression patterns with high levels in skeletal muscle and testis
PMID: 12735795
2
ABH1/ABHD1 oxidizes m5C34 to f5C34 on mitochondrial tRNAMet; essential for mitochondrial translation; depletion strongly affects mitochondrial translation
PMID: 27497299
3
ABHD1 interferes with intestinal stem cell proliferation and migration; rs2304678 C allele associated with total colonic aganglionosis in Hirschsprung disease
PMID: 34545688
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
endometriosisOpen Targets
0.19Weak
Alzheimer diseaseOpen Targets
0.06Suggestive
Abdominal painOpen Targets
0.03Suggestive
HeadacheOpen Targets
0.03Suggestive
Duane retraction syndromeOpen Targets
0.03Suggestive
Limb painOpen Targets
0.02Suggestive
malunion fractureOpen Targets
0.02Suggestive
Hirschsprung diseaseOpen Targets
0.01Suggestive
diabetic retinopathyOpen Targets
0.01Suggestive
non-proliferative diabetic retinopathyOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
hypertensionOpen Targets
0.00Suggestive
Other metabolic diseaseOpen Targets
0.00Suggestive
Disorder of lipid metabolismOpen Targets
0.00Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
endothelial dysfunctionOpen Targets
0.00Suggestive
HyperglycemiaOpen Targets
0.00Suggestive
Insulin resistanceOpen Targets
0.00Suggestive
metabolic syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PREBProtein interaction85%ABHD3Shared pathway50%OLAHShared pathway33%GLYATL2Shared pathway33%ABHD2Shared pathway25%OXSMShared pathway20%
Tissue Expression6 tissues
Liver
100%
Heart
66%
Ovary
46%
Bone Marrow
22%
Brain
13%
Lung
9%
Gene Interaction Network
Click a node to explore
ABHD1PREBABHD3OLAHGLYATL2ABHD2OXSM
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96SE0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.07 [0.84–1.36]
RankingsWhere ABHD1 stands among ~20K protein-coding genes
  • #17,255of 20,598
    Most Researched9
  • #14,200of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedABHD1
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12.
PMID: 12735795
BMC Genomics · 2003
1.00
2
Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
PMID: 34545688
J Cell Mol Med · 2021
0.89
3
Molecular insights on PS-PLA
PMID: 36841071
Biophys Chem · 2023
0.78
4
Interaction of human and bacterial AlkB proteins with DNA as probed through chemical cross-linking studies.
PMID: 15004242
Nucleic Acids Res · 2004
0.67
5
Homology modeling and function prediction of hABH1, involving in repair of alkylation damaged DNA.
PMID: 21956739
Interdiscip Sci · 2011
0.56