Go to basket

Tree Display

AceDB Schema

XML Display


Family Report for: ABHD16


Family ABHD16
Block X
This family consists of abhydrolase domain-containing protein 16 A (ABHD16A). Function of its members is unknown. However, ABHD16A contains transmembrane domain and is a potential multi-pass membrane protein. BAT5 (HLA-B-associated transcript 5). Savinainen et al. showed hydrolysis of medium-chain saturated (C14:0), long-chain unsaturated (C18:1, C18:2, C20:4) monoacylglycerols (MAGs) and 15-deoxy-12,14-prostaglandin J2-2-glycerol ester (15d-PGJ2-G). Only marginal diacylglycerol (DAG), triacylglycerol (TAG), or lysophospholipase activity PANTHER PTHR12277:SF54 There are two genes ABHD16 A and B in amniotes. Shan et al. identified a nonsense mutation in the bovine ABHD16B associated with male subfertility in Holstein cattle. ABHD16B is involved in lipid biosynthesis in testis and is crucial for fertilization. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies (Lemire et al. 2021; Yahia et al. 2021; Miyake 2021). Substrates of ABHD include medium-chain saturated monoacylglycerols, 1-linoleylglycerol, 15-deoxy-delta12,14-prostaglandin J2-2-glycerol ester
1 Disease(s)

IPR026604 (Abhydrolase domain-containing protein 16A ABHD16A)
no EC number

Peptide in
Nucleotide in
Alignment with Multalin
|Text only/graphic display
Seed alignment with MAFFT
|No colour/coloured with Mview
Alignment with MAFFT
|No colour/coloured with Mview
|Graphical display, obtained with the dnd file produced by Clustalw

7 more
    Title: ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
    Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T and Boycott KM <13 more author(s)>
    Ref: American Journal of Human Genetics, :, 2021 : PubMed


    Title: A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
    Miyake N, Silva S, Troncoso M, Okamoto N, Andachi Y, Kato M, Iwabuchi C, Hirose M, Fujita A and Matsumoto N <1 more author(s)>
    Ref: Clin Genet, :, 2021 : PubMed


    Title: Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
    Yahia A, Elsayed LEO, Valter R, Hamed AAA, Mohammed IN, Elseed MA, Salih MA, Esteves T, Auger N and Stevanin G <19 more author(s)>
    Ref: Front Neurol, 12:720201, 2021 : PubMed


Other Papers

No structure scheme yet for this family

No Structure yet in this family

Genes Proteins in ABHD16 family (142)

Fragments of genes in ABHD16 family (26)

Substrates of some enzymes in the ABHD16 family (3)

Inhibitors of some enzymes in the ABHD16 family (4)

Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page

Acknowledgements and disclaimer