ABHD12-PHARC

Relationship

Family: ABHD12-PHARC

Block: X

Parent Family: Hydrolase_4

Comment

Monoacylglycerol lipase protein ABHD12 (also known as the abhydrolase domain-containing protein 12) has 2-arachidonoylglycerol hydrolase activity (Blankman et al. 2007). In humans, defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC). PHARC is a slowly progressive neurologic disorder (Fiskerstrand 2010). ABHD12 is a major very long chain lyso-PS lipase in primary mast cells. long-chain lyso-PSs induce secretion of pro-inflammatory cytokines in macrophage signaling and mast cell degranulation (Khandelwal 2021). Substrates include: 2-arachidonoylglycerol, 1(3)-isomer of arachidonoylglycerol, unsaturated C20:4 monoacylglycerols, lysophosphatidylserine lipids

Database

Interpro : IPR026605 Monoacylglycerol lipase protein ABHD12

PIRSF : No PIRSF

Pdoc : No Pdoc

Pfam : No Pfam

Prints : No Print

EC Number : No EC Number

Sequences

Peptide in Fasta
Nucleotide in Fasta
Alignment with Multalin Text only
Seed alignment with MAFFT No colour
Alignment with MAFFT No colour
Dendrogram The dnd file

No structure scheme yet for this family

Genes Proteins in ABHD12-PHARC family (197)

Fragments of genes in ABHD12-PHARC family (42)

No fragment of genes

Substrates in ABHD12-PHARC family (4)

Inhibitors in ABHD12-PHARC family (5)

References (9)

Title : Fatty acid chain length drives lysophosphatidylserine-dependent immunological outputs - Khandelwal_2021_Cell.Chem.Biol__
Author(s) : Khandelwal N , Shaikh M , Mhetre A , Singh S , Sajeevan T , Joshi A , Balaji KN , Chakrapani H , Kamat SS
Ref : Cell Chemical Biology , : , 2021
PubMedID: 33571455
Gene_locus related to this paper: human-ABHD12

Title : Mapping the neuroanatomy of ABHD16A-ABHD12 & lysophosphatidylserines provides new insights into the pathophysiology of the human neurological disorder PHARC - Singh_2020_Biochemistry_59_2299
Author(s) : Singh S , Joshi A , Kamat SS
Ref : Biochemistry , 59 :2299 , 2020
PubMedID: 32462874
Gene_locus related to this paper: human-ABHD12 , human-ABHD16A

Title : A chemical-genetic screen identifies ABHD12 as an oxidized-phosphatidylserine lipase - Kelkar_2019_Nat.Chem.Biol_15_169
Author(s) : Kelkar DS , Ravikumar G , Mehendale N , Singh S , Joshi A , Sharma AK , Mhetre A , Rajendran A , Chakrapani H , Kamat SS
Ref : Nat Chemical Biology , 15 :169 , 2019
PubMedID: 30643283
Gene_locus related to this paper: human-ABHD12

Title : Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids - Joshi_2018_J.Biol.Chem_293_16953
Author(s) : Joshi A , Shaikh M , Singh S , Rajendran A , Mhetre A , Kamat SS
Ref : Journal of Biological Chemistry , 293 :16953 , 2018
PubMedID: 30237167
Gene_locus related to this paper: human-ABHD12

Title : Structural properties and role of the endocannabinoid lipases ABHD6 and ABHD12 in lipid signalling and disease - Kind_2019_Amino.Acids_51_151
Author(s) : Kind L , Kursula P
Ref : Amino Acids , 51 :151 , 2018
PubMedID: 30564946
Gene_locus related to this paper: human-ABHD6 , human-ABHD12

Title : Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay - Kamat_2015_Nat.Chem.Biol_11_164
Author(s) : Kamat SS , Camara K , Parsons WH , Chen DH , Dix MM , Bird TD , Howell AR , Cravatt BF
Ref : Nat Chemical Biology , 11 :164 , 2015
PubMedID: 25580854
Gene_locus related to this paper: human-ABHD12 , human-ABHD16A , mouse-abd12 , mouse-Abhd16a

Title : ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC - Blankman_2013_Proc.Natl.Acad.Sci.U.S.A_110_1500
Author(s) : Blankman JL , Long JZ , Trauger SA , Siuzdak G , Cravatt BF
Ref : Proc Natl Acad Sci U S A , 110 :1500 , 2013
PubMedID: 23297193

Title : Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism - Fiskerstrand_2010_Am.J.Hum.Genet_87_410
Author(s) : Fiskerstrand T , H'Mida-Ben Brahim D , Johansson S , M'Zahem A , Haukanes BI , Drouot N , Zimmermann J , Cole AJ , Vedeler C , Bredrup C , Assoum M , Tazir M , Klockgether T , Hamri A , Steen VM , Boman H , Bindoff LA , Koenig M , Knappskog PM
Ref : American Journal of Human Genetics , 87 :410 , 2010
PubMedID: 20797687
Gene_locus related to this paper: human-ABHD12

Title : A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol - Blankman_2007_Chem.Biol_14_1347
Author(s) : Blankman JL , Simon GM , Cravatt BF
Ref : Chemical Biology , 14 :1347 , 2007
PubMedID: 18096503
Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-MGLL