ABHD10 - abhydrolase domain containing 10, depalmitoylase Gene

Homo sapiens

Gene ID: 55347 | Gene type: protein coding

About ABHD10

Cytogenetic location: 3q13.2 Genomic coordinates (GRCh38): 3:111,979,026-111,993,368 (from NCBI)

This gene has 5 transcripts (splice variants) and 230 orthologues. Ubiquitous expression in kidney (RPKM 20.6), thyroid (RPKM 19.7) and 25 other tissues.

Summary

This gene encodes a mitochondrially-localized Enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ABHD10 Products(2)

mRNA	Protein	Name
NM_001272069.2	NP_001258998.1	palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 2
NM_018394.4	NP_060864.1	palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables hydrolase activity, hydrolyzing O-glycosyl compounds	IDA IDA: Inferred from direct assay	22294686	GOA
enables palmitoyl-(protein) hydrolase activity	IDA IDA: Inferred from direct assay	31740833	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in acyl deglucuronidation	IDA IDA: Inferred from direct assay	22294686	GOA
involved in protein depalmitoylation	IDA IDA: Inferred from direct assay	31740833	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	22294686	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	31740833	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABHD10 Protein Structure

Abhydrolase_6

0
100
200
306 a.a.

Protein Preferred Names

Protein Names

palmitoyl-protein thioesterase ABHD10, mitochondrial

abhydrolase domain-containing protein 10, mitochondrial

Recombinant ABHD10 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76706	ABHD10 Protein, Human (sf9, His)	Q9NUJ1-1 (T53-N306)	≥95%

Related Diseases

Diseases

Alias

Hypoglycemia, Leucine-Induced

Leucine-Sensitive Hypoglycemia Of Infancy	Leucine-Induced Hypoglycemia
LIH	Hypoglycemia Of Infancy, Leucine-Sensitive
Familial Infantile Hypoglycemia Precipitated By Leucine	Hypoglycemia Leucine Induced
Hypoglycemia Leucine-Induced

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00084	ABHD10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ABHD10	VGNC	VGNC:56123
Macaca mulatta	ABHD10	VGNC	VGNC:69534
Mus musculus	ABHD10	MGD	MGI:2442422
Rattus norvegicus	ABHD10	RGD	RGD:1308084
Bos taurus	ABHD10	VGNC	VGNC:25488
Others	ABHD10	NCBI

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