human-BAAT

Homo sapiens (Human) bile acid CoA: amino acid n-acyltransferase (EC 3.1.2.2)

Comment

"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"

Relationship

Family : Acyl-CoA_Thioesterase

Block : X

Position in NCBI Life Tree : Homo sapiens

Molecular evidence

No mutation

No structure

No kinetic

No inhibitor

Database

Sequence

Peptide

MIQLTATPVSALVDEPVHIRATGLIPFQMVSFQASLEDEN
GDMFYSQAHY RANEFGEVDLNHASSLGGDYMGVHPMGLF
WSLKPEKLLTRLLKRDVMNRP FQVQVKLYDLELIVNNKV
ASAPKASLTLERWYVAPGVTRIKVREGRLRGA LFLPPGE
GLFPGVIDLFGGLGGLLEFRASLLASRGFASLALAYHNYE
DLP RKPEVTDLEYFEEAANFLLRHPKVFGSGVGVVSVCQ
GVQIGLSMAIYLKQ VTATVLINGTNFPFGIPQVYHGQIH
QPLPHSAQLISTNALGLLELYRTFE TTQVGASQYLFPIE
EAQGQFLFIVGEGDKTINSKAHAEQAIGQLKRHGKN NWT
LLSYPGAGHLIEPPYSPLCCASTTHDLRLHWGGEVIPHAA
AQEHAWK EIQRFLRKHLIPDVTSQL

References

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