Homo sapiens (Human) bile acid CoA: amino acid n-acyltransferase (EC 3.1.2.2)
The major solutes in bile are N-acyl conjugates of cholanoates (C24 bile acids) with glycine or taurine. These bile acid-amino acid conjugates serve as detergents in the gastrointestinal tract. Bile acid-amino acid conjugates are formed in the liver via a 2-step pathway. The first reaction converts a bile acid to an acyl-CoA thioester and is catalyzed by the microsomal enzyme, cholyl-CoA synthetase (EC 6.2.1.7). The second reaction transfers the bile acid moiety from the acyl-CoA thioester to either glycine or taurine, and is catalyzed by bile acid-CoA:amino acid N-acyltransferase (BAAT\; EC 2.3.1.65).(from OMIM) Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Carlton et al. (2003) studied this disorder in 17 individuals in 12 families of Lancaster County Old Order Amish descent. In 6 families, affected individuals were homozygous for a missense mutation in the gene encoding tight junction protein-2 (TJP2). In 2 families, affected individuals were homozygous for an M76V mutation in BAAT. In 2 families, the affected individuals were homozygous for the TJP2 missense mutation and heterozygous for the BAAT mutation, and in 1 family affected individuals were homozygous for the BAAT mutation and heterozygous for the TJP2 mutation
MIQLTATPVS ALVDEPVHIR ATGLIPFQMV SFQASLEDEN GDMFYSQAHY RANEFGEVDL NHASSLGGDY MGVHPMGLFW SLKPEKLLTR LLKRDVMNRP FQVQVKLYDL ELIVNNKVAS APKASLTLER WYVAPGVTRI KVREGRLRGA LFLPPGEGLF PGVIDLFGGL GGLLEFRASL LASRGFASLA LAYHNYEDLP RKPEVTDLEY FEEAANFLLR HPKVFGSGVG VVSVCQGVQI GLSMAIYLKQ VTATVLINGT NFPFGIPQVY HGQIHQPLPH SAQLISTNAL GLLELYRTFE TTQVGASQYL FPIEEAQGQF LFIVGEGDKT INSKAHAEQA IGQLKRHGKN NWTLLSYPGA GHLIEPPYSP LCCASTTHDL RLHWGGEVIP HAAAQEHAWK EIQRFLRKHL IPDVTSQL
Title : The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine - O'Byrne_2003_J.Biol.Chem_278_34237 |
Author(s) : O'Byrne J , Hunt MC , Rai DK , Saeki M , Alexson SE |
Ref : Journal of Biological Chemistry , 278 :34237 , 2003 |
Abstract : O'Byrne_2003_J.Biol.Chem_278_34237 |
ESTHER : O'Byrne_2003_J.Biol.Chem_278_34237 |
PubMedSearch : O'Byrne_2003_J.Biol.Chem_278_34237 |
PubMedID: 12810727 |
Gene_locus related to this paper: human-BAAT , mouse-BAAT |
Title : Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT - Carlton_2003_Nat.Genet_34_91 |
Author(s) : Carlton VE , Harris BZ , Puffenberger EG , Batta AK , Knisely AS , Robinson DL , Strauss KA , Shneider BL , Lim WA , Salen G , Morton DH , Bull LN |
Ref : Nat Genet , 34 :91 , 2003 |
Abstract : Carlton_2003_Nat.Genet_34_91 |
ESTHER : Carlton_2003_Nat.Genet_34_91 |
PubMedSearch : Carlton_2003_Nat.Genet_34_91 |
PubMedID: 12704386 |
Gene_locus related to this paper: human-BAAT |
Title : Conserved residues in the putative catalytic triad of human bile acid Coenzyme A:amino acid N-acyltransferase - Sfakianos_2002_J.Biol.Chem_277_47270 |
Author(s) : Sfakianos MK , Wilson L , Sakalian M , Falany CN , Barnes S |
Ref : Journal of Biological Chemistry , 277 :47270 , 2002 |
Abstract : Sfakianos_2002_J.Biol.Chem_277_47270 |
ESTHER : Sfakianos_2002_J.Biol.Chem_277_47270 |
PubMedSearch : Sfakianos_2002_J.Biol.Chem_277_47270 |
PubMedID: 12239217 |
Gene_locus related to this paper: human-BAAT |
Title : An EST and STS-based YAC contig map of human chromosome 9q22.3 - Lench_1996_Genomics_38_199 |
Author(s) : Lench NJ , Telford EA , Andersen SE , Moynihan TP , Robinson PA , Markham AF |
Ref : Genomics , 38 :199 , 1996 |
Abstract : Lench_1996_Genomics_38_199 |
ESTHER : Lench_1996_Genomics_38_199 |
PubMedSearch : Lench_1996_Genomics_38_199 |
PubMedID: 8954802 |
Gene_locus related to this paper: human-BAAT |
Title : Glycine and taurine conjugation of bile acids by a single enzyme. Molecular cloning and expression of human liver bile acid CoA:amino acid N-acyltransferase. - |
Author(s) : Falany CN , Johnson MR , Barnes S , Diasio RB |
Ref : Journal of Biological Chemistry , 269 :19375 , 1994 |
PubMedID: 8034703 |
Gene_locus related to this paper: human-BAAT |
Title : Purification and characterization of bile acid-CoA:amino acid N-acyltransferase from human liver - Johnson_1991_J.Biol.Chem_266_10227 |
Author(s) : Johnson MR , Barnes S , Kwakye JB , Diasio RB |
Ref : Journal of Biological Chemistry , 266 :10227 , 1991 |
Abstract : Johnson_1991_J.Biol.Chem_266_10227 |
ESTHER : Johnson_1991_J.Biol.Chem_266_10227 |
PubMedSearch : Johnson_1991_J.Biol.Chem_266_10227 |
PubMedID: 2037576 |
Gene_locus related to this paper: human-BAAT |