ABHD1 - abhydrolase domain containing 1 Gene

Homo sapiens

Also known as LABH1

Gene ID: 84696 | Gene type: protein coding

About ABHD1

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,123,815-27,130,812 (from NCBI)

This gene has 8 transcripts (splice variants), 178 orthologues and 3 paralogues. Biased expression in testis (RPKM 24.6) and fat (RPKM 1.9).

Summary

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. [provided by RefSeq, Jul 2008]

ABHD1 Products(1)

mRNA	Protein	Name
NM_032604.4	NP_115993.3	protein ABHD1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

ABHD1 Protein Structure

Abhydrolase_6

0
100
200
300
405 a.a.

Protein Preferred Names

Protein Names

protein ABHD1

abhydrolase domain-containing protein 1

ABHD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ABHD1	Q96SE0	KASH5	Homo sapiens	Q8N6L0	Validated Y2H	25416956
Intra	ABHD1	Q96SE0	KASH5	Homo sapiens	Q8N6L0	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Acute Laryngitis

Acute Laryngitis Nos	Laryngeal Inflammation
Laryngitis Nos	Larynx Inflammation

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-RS00083	ABHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ABHD1	RGD	RGD:1310988
Canis familiaris	ABHD1	VGNC	VGNC:37456
Macaca mulatta	ABHD1	VGNC	VGNC:69452
Mus musculus	ABHD1	MGD	MGI:1931013
Felis catus	ABHD1	VGNC	VGNC:59474
Bos taurus	ABHD1	VGNC	VGNC:25487
Others	ABHD1	NCBI

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