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
Block X
Homo sapiens position in NCBI Life Tree :
N link to NCBI taxonomic web page and E link to ESTHER gene locus found in this strain.
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E

Molecular evidence
Database
1 mutation: human-BAAT
No structure
No kinetic
Disease: Familial hypercholanemia -
Substrate: Cholyl-CoA ,

>3 Genbank links 2 more: BC009567, L34081, BC107424
1 UniProt : Q14032
1 UniProtTrembl : Q14032
1 Interpro : Q14032
1 Prodom : Q14032
1 Pfam : Q14032
1 PIRSF : Q14032
1 SUPERFAM : Q14032
1 QuickSwissBlast : Q14032
1 EntrezGene : 570
1 SNP : 570
1 UniGene : 284712
1 HUGO HGNC : 932
2 OMIM : 602938, 607748
1 Ensembl : ENSG00000136881
 
Sequence
Graphical view for this peptide sequence: human-BAAT
Colored MSA for Acyl-CoA_Thioesterase (raw)
MIQLTATPVSALVDEPVHIRATGLIPFQMVSFQASLEDENGDMFYSQAHY
RANEFGEVDLNHASSLGGDYMGVHPMGLFWSLKPEKLLTRLLKRDVMNRP
FQVQVKLYDLELIVNNKVASAPKASLTLERWYVAPGVTRIKVREGRLRGA
LFLPPGEGLFPGVIDLFGGLGGLLEFRASLLASRGFASLALAYHNYEDLP
RKPEVTDLEYFEEAANFLLRHPKVFGSGVGVVSVCQGVQIGLSMAIYLKQ
VTATVLINGTNFPFGIPQVYHGQIHQPLPHSAQLISTNALGLLELYRTFE
TTQVGASQYLFPIEEAQGQFLFIVGEGDKTINSKAHAEQAIGQLKRHGKN
NWTLLSYPGAGHLIEPPYSPLCCASTTHDLRLHWGGEVIPHAAAQEHAWK
EIQRFLRKHLIPDVTSQL
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MIQLTATPVSALVDEPVHIRATGLIPFQMVSFQASLEDENGDMFYSQAHY
RANEFGEVDLNHASSLGGDYMGVHPMGLFWSLKPEKLLTRLLKRDVMNRP
FQVQVKLYDLELIVNNKVASAPKASLTLERWYVAPGVTRIKVREGRLRGA
LFLPPGEGLFPGVIDLFGGLGGLLEFRASLLASRGFASLALAYHNYEDLP
RKPEVTDLEYFEEAANFLLRHPKVFGSGVGVVSVCQGVQIGLSMAIYLKQ
VTATVLINGTNFPFGIPQVYHGQIHQPLPHSAQLISTNALGLLELYRTFE
TTQVGASQYLFPIEEAQGQFLFIVGEGDKTINSKAHAEQAIGQLKRHGKN
NWTLLSYPGAGHLIEPPYSPLCCASTTHDLRLHWGGEVIPHAAAQEHAWK
EIQRFLRKHLIPDVTSQL

no DNA




References
3 more
    Title: The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine
    O'Byrne J, Hunt MC, Rai DK, Saeki M, Alexson SE
    Ref: Journal of Biological Chemistry, 278:34237, 2003 : PubMed

            

    Title: Conserved residues in the putative catalytic triad of human bile acid Coenzyme A:amino acid N-acyltransferase
    Sfakianos MK, Wilson L, Sakalian M, Falany CN, Barnes S
    Ref: Journal of Biological Chemistry, 277:47270, 2002 : PubMed

            

    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.
    Falany CN, Johnson MR, Barnes S, Diasio RB
    Ref: Journal of Biological Chemistry, 269:19375, 1994 : PubMed

            


Other Papers


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
webmaster

Acknowledgements and disclaimer