ABHD17A - abhydrolase domain containing 17A, depalmitoylase Gene

Homo sapiens

Also known as C19orf27; FAM108A1

Gene ID: 81926 | Gene type: protein coding

About ABHD17A

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,876,810-1,885,496 (from NCBI)

This gene has 8 transcripts (splice variants), 279 orthologues and 7 paralogues. Ubiquitous expression in spleen (RPKM 12.7), bone marrow (RPKM 10.4) and 25 other tissues.

Summary

Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ABHD17A Products(2)

mRNA	Protein	Name
NM_001130111.2	NP_001123583.1	alpha/beta hydrolase domain-containing protein 17A isoform 2
NM_031213.4	NP_112490.3	alpha/beta hydrolase domain-containing protein 17A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables palmitoyl-(protein) hydrolase activity	IDA IDA: Inferred from direct assay	38092000	GOA
enables palmitoyl-(protein) hydrolase activity	IMP IMP: Inferred from mutant phenotype	26701913	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23088713	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of NLRP3 inflammasome complex assembly	IDA IDA: Inferred from direct assay	38092000	GOA
involved in protein depalmitoylation	IGI IGI: Inferred from genetic interaction	26701913	GOA
involved in protein depalmitoylation	IMP IMP: Inferred from mutant phenotype	26701913	GOA
involved in protein localization to membrane	IMP IMP: Inferred from mutant phenotype	26701913	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endosome membrane	IDA IDA: Inferred from direct assay	26701913	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26701913	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

ABHD17A Protein Structure

Abhydrolase_5

0
100
200
310 a.a.

Protein Preferred Names

Protein Names

alpha/beta hydrolase domain-containing protein 17A

abhydrolase domain-containing protein 17A

ABHD17A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ABHD17A	Q96GS6	HPGDS	Homo sapiens	O60760	Validated Y2H	25416956
Intra	ABHD17A	Q96GS6	HPGDS	Homo sapiens	O60760	Y2H Array	31515488
Cross	ABHD17A	Q96GS6	Hoxa1	Mus musculus	P09022	Y2H	23088713

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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-RS00091	ABHD17A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ABHD17A	VGNC	VGNC:59482
Mus musculus	ABHD17A	MGD	MGI:106388
Rattus norvegicus	ABHD17A	RGD	RGD:1359682
Canis familiaris	ABHD17A	VGNC	VGNC:37465
Bos taurus	ABHD17A	VGNC	VGNC:25497
Macaca mulatta	ABHD17A	VGNC	VGNC:69543

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