1. Gene
  2. ABHD17A - abhydrolase domain containing 17A, depalmitoylase Gene

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

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

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

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