ABHD17A - abhydrolase domain containing 17A, depalmitoylase Gene

Also Known as C19orf27; FAM108A1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 81926

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 Verweise 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 Verweise 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 Verweise 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

Abhydrolase_5: Alpha/beta hydrolase family (113 - 285)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS00091 ABHD17A Human Pre-designed siRNA Set A Pre-designed Set / 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
Others ABHD17A NCBI