UniProtKB - Q14032 (BAAT_HUMAN)
Bile acid-CoA:amino acid N-acyltransferase
BAAT
Functioni
Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12810727, PubMed:8034703, PubMed:2037576, PubMed:12239217).
More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703).
Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727).
This conjugation (or amidation) plays several important biological roles in that it promotes the secretion of BAs and cholesterol into bile and increases the detergent properties of BAs in the intestine, which facilitates lipid and vitamin absorption (PubMed:12810727).
May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids (PubMed:12810727, PubMed:8034703, PubMed:12239217).
In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs (PubMed:12810727).
2 Publications4 PublicationsCatalytic activityi
- EC:2.3.1.654 PublicationsThis reaction proceeds in the forward4 Publications direction.
- EC:3.1.2.21 PublicationThis reaction proceeds in the forward1 Publication direction.
- EC:3.1.2.273 PublicationsThis reaction proceeds in the forward2 Publications direction.
- EC:3.1.2.271 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward2 Publications direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
Kineticsi
- KM=1.1 mM for taurine toward choloyl-CoA1 Publication
- KM=1.8 mM for taurine toward choloyl-CoA1 Publication
- KM=5.6 mM for glycine toward choloyl-CoA1 Publication
- KM=5.8 mM for glycine toward choloyl-CoA1 Publication
- KM=2.2 mM for 2-fluoro-beta-alanine toward choloyl-CoA1 Publication
- KM=19.3 µM for glycine toward arachidoyl-CoA1 Publication
- KM=50.02 µM for choloyl-CoA (acyl-CoA thioesterase activity)1 Publication
- Vmax=0.33 µmol/min/mg enzyme with taurine as substrate for acyltransferase activity1 Publication
- Vmax=0.19 µmol/min/mg enzyme with 2-fluoro-beta-alanine as substrate for acyltransferase activity1 Publication
- Vmax=0.77 µmol/min/mg enzyme with glycine as substrate for acyltransferase activity1 Publication
- Vmax=223 nmol/min/mg enzyme with arachidoyl-CoA as substrate for acyl-CoA thioesterase activity1 Publication
- Vmax=1.48 µmol/min/µg enzyme for acyl-CoA thioesterase activity1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 235 | Charge relay systemCurated | 1 | |
Active sitei | 328 | Charge relay systemCurated | 1 | |
Active sitei | 362 | Charge relay systemCurated | 1 |
GO - Molecular functioni
- acyl-CoA hydrolase activity Source: GO_Central
- acyltransferase activity Source: Reactome
- carboxylic ester hydrolase activity Source: UniProtKB-KW
- choloyl-CoA hydrolase activity Source: UniProtKB-EC
- glycine N-choloyltransferase activity Source: UniProtKB
- long-chain acyl-CoA hydrolase activity Source: UniProtKB
- medium-chain acyl-CoA hydrolase activity Source: UniProtKB
- myristoyl-CoA hydrolase activity Source: UniProtKB-EC
- N-acyltransferase activity Source: MGI
- palmitoyl-CoA hydrolase activity Source: UniProtKB-EC
- very long chain acyl-CoA hydrolase activity Source: UniProtKB
GO - Biological processi
- acyl-CoA metabolic process Source: UniProtKB
- animal organ regeneration Source: Ensembl
- bile acid biosynthetic process Source: UniProtKB
- bile acid conjugation Source: UniProtKB
- bile acid metabolic process Source: Reactome
- fatty acid metabolic process Source: GO_Central
- glycine metabolic process Source: UniProtKB
- liver development Source: Ensembl
- taurine metabolic process Source: UniProtKB
Keywordsi
Molecular function | Acyltransferase, Hydrolase, Serine esterase, Transferase |
Biological process | Fatty acid metabolism, Lipid metabolism |
Enzyme and pathway databases
BRENDAi | 2.3.1.65, 2681 |
PathwayCommonsi | Q14032 |
Reactomei | R-HSA-159418, Recycling of bile acids and salts R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-9033241, Peroxisomal protein import |
SABIO-RKi | Q14032 |
SignaLinki | Q14032 |
Protein family/group databases
ESTHERi | human-BAAT, Acyl-CoA_Thioesterase |
MEROPSi | S09.A50 |
Chemistry databases
SwissLipidsi | SLP:000001309 |
Names & Taxonomyi
Protein namesi | Recommended name: Bile acid-CoA:amino acid N-acyltransferase1 Publication (EC:2.3.1.654 Publications)Short name: BACAT1 Publication Short name: BAT1 Publication Alternative name(s): |
Gene namesi | Name:BAAT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:932, BAAT |
MIMi | 602938, gene |
neXtProti | NX_Q14032 |
VEuPathDBi | HostDB:ENSG00000136881 |
Subcellular locationi
Peroxisome
- Peroxisome By similarity
Cytoplasm and Cytosol
- cytosol 3 Publications
Cytosol
- cytosol Source: UniProtKB
Peroxisome
- peroxisomal matrix Source: Reactome
- peroxisome Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, PeroxisomePathology & Biotechi
Involvement in diseasei
Bile acid conjugation defect 1 (BACD1)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085492 | 20 – 418 | Missing in BACD1; contrary to wild-type, undetectable expression in hepatocytes. 1 PublicationAdd BLAST | 399 | |
Natural variantiVAR_085493 | 69 | D → V in BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes. 1 Publication | 1 | |
Natural variantiVAR_023737 | 76 | M → V in BACD1. 1 PublicationCorresponds to variant dbSNP:rs28937579EnsemblClinVar. | 1 | |
Natural variantiVAR_085494 | 84 | P → T in BACD1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085495 | 386 | G → R in BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 235 | C → A: Abolishes N-acyltransferase activity. 2 Publications | 1 | |
Mutagenesisi | 235 | C → S: Lowers N-acyltransferase activity; enhanced thioesterase activity presumably dependent on the formation of a bile acid-enzyme covalent intermediate via a thioester bond. 2 Publications | 1 | |
Mutagenesisi | 328 | D → A: Abolishes N-acyltransferase activity. 2 Publications | 1 | |
Mutagenesisi | 362 | H → A: Abolishes N-acyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 362 | H → Q: Abolishes N-acyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 372 | C → A: Retains N-acyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 417 | Q → K: Translocation to peroxisomes. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 570 |
MalaCardsi | BAAT |
MIMi | 619232, phenotype |
OpenTargetsi | ENSG00000136881 |
Orphaneti | 238475, Familial hypercholanemia |
PharmGKBi | PA25231 |
Miscellaneous databases
Pharosi | Q14032, Tbio |
Chemistry databases
DrugBanki | DB00145, Glycine DB01956, Taurine |
Genetic variation databases
BioMutai | BAAT |
DMDMi | 74739811 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000202159 | 1 – 418 | Bile acid-CoA:amino acid N-acyltransferaseAdd BLAST | 418 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 125 | PhosphoserineBy similarity | 1 | |
Modified residuei | 416 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | Q14032 |
MaxQBi | Q14032 |
PaxDbi | Q14032 |
PeptideAtlasi | Q14032 |
PRIDEi | Q14032 |
ProteomicsDBi | 59802 |
PTM databases
CarbonylDBi | Q14032 |
iPTMneti | Q14032 |
PhosphoSitePlusi | Q14032 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000136881, Expressed in right lobe of liver and 76 other tissues |
Genevisiblei | Q14032, HS |
Organism-specific databases
HPAi | ENSG00000136881, Tissue enriched (liver) |
Interactioni
Subunit structurei
Monomer.
1 PublicationBinary interactionsi
Q14032
Protein-protein interaction databases
BioGRIDi | 107046, 34 interactors |
IntActi | Q14032, 36 interactors |
MINTi | Q14032 |
STRINGi | 9606.ENSP00000259407 |
Miscellaneous databases
RNActi | Q14032, protein |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | ENOG502QQ8Z, Eukaryota |
GeneTreei | ENSGT01010000222336 |
HOGENOMi | CLU_029849_4_0_1 |
InParanoidi | Q14032 |
OMAi | LTPFQVV |
OrthoDBi | 1260385at2759 |
PhylomeDBi | Q14032 |
TreeFami | TF314911 |
Family and domain databases
Gene3Di | 2.60.40.2240, 1 hit 3.40.50.1820, 1 hit |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR016662, Acyl-CoA_thioEstase_long-chain IPR014940, BAAT_C IPR006862, Thio_Ohase/aa_AcTrfase IPR042490, Thio_Ohase/BAAT_N |
Pfami | View protein in Pfam PF08840, BAAT_C, 1 hit PF04775, Bile_Hydr_Trans, 1 hit |
PIRSFi | PIRSF016521, Acyl-CoA_hydro, 1 hit |
SUPFAMi | SSF53474, SSF53474, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MIQLTATPVS ALVDEPVHIR ATGLIPFQMV SFQASLEDEN GDMFYSQAHY
60 70 80 90 100
RANEFGEVDL NHASSLGGDY MGVHPMGLFW SLKPEKLLTR LLKRDVMNRP
110 120 130 140 150
FQVQVKLYDL ELIVNNKVAS APKASLTLER WYVAPGVTRI KVREGRLRGA
160 170 180 190 200
LFLPPGEGLF PGVIDLFGGL GGLLEFRASL LASRGFASLA LAYHNYEDLP
210 220 230 240 250
RKPEVTDLEY FEEAANFLLR HPKVFGSGVG VVSVCQGVQI GLSMAIYLKQ
260 270 280 290 300
VTATVLINGT NFPFGIPQVY HGQIHQPLPH SAQLISTNAL GLLELYRTFE
310 320 330 340 350
TTQVGASQYL FPIEEAQGQF LFIVGEGDKT INSKAHAEQA IGQLKRHGKN
360 370 380 390 400
NWTLLSYPGA GHLIEPPYSP LCCASTTHDL RLHWGGEVIP HAAAQEHAWK
410
EIQRFLRKHL IPDVTSQL
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A6Q8PF60 | A0A6Q8PF60_HUMAN | Bile acid-CoA:amino acid N-acyltran... | BAAT | 277 | Annotation score: | ||
A0A6Q8PHR9 | A0A6Q8PHR9_HUMAN | Bile acid-CoA:amino acid N-acyltran... | BAAT | 291 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085492 | 20 – 418 | Missing in BACD1; contrary to wild-type, undetectable expression in hepatocytes. 1 PublicationAdd BLAST | 399 | |
Natural variantiVAR_052303 | 20 | R → Q3 PublicationsCorresponds to variant dbSNP:rs1572983EnsemblClinVar. | 1 | |
Natural variantiVAR_085493 | 69 | D → V in BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes. 1 Publication | 1 | |
Natural variantiVAR_023737 | 76 | M → V in BACD1. 1 PublicationCorresponds to variant dbSNP:rs28937579EnsemblClinVar. | 1 | |
Natural variantiVAR_085494 | 84 | P → T in BACD1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085495 | 386 | G → R in BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L34081 mRNA Translation: AAC37550.1 CR541918 mRNA Translation: CAG46716.1 AL359893 Genomic DNA No translation available. CH471105 Genomic DNA Translation: EAW58943.1 BC009567 mRNA Translation: AAH09567.1 BC107424 mRNA Translation: AAI07425.1 |
CCDSi | CCDS6752.1 |
PIRi | A53965 |
RefSeqi | NP_001121082.1, NM_001127610.1 NP_001692.1, NM_001701.3 |
Genome annotation databases
Ensembli | ENST00000259407.7; ENSP00000259407.2; ENSG00000136881.12 ENST00000395051.4; ENSP00000378491.3; ENSG00000136881.12 ENST00000621712.2; ENSP00000484063.1; ENSG00000276559.2 ENST00000674556.1; ENSP00000501610.1; ENSG00000136881.12 |
GeneIDi | 570 |
KEGGi | hsa:570 |
MANE-Selecti | ENST00000259407.7; ENSP00000259407.2; NM_001701.4; NP_001692.1 |
UCSCi | uc010mtd.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L34081 mRNA Translation: AAC37550.1 CR541918 mRNA Translation: CAG46716.1 AL359893 Genomic DNA No translation available. CH471105 Genomic DNA Translation: EAW58943.1 BC009567 mRNA Translation: AAH09567.1 BC107424 mRNA Translation: AAI07425.1 |
CCDSi | CCDS6752.1 |
PIRi | A53965 |
RefSeqi | NP_001121082.1, NM_001127610.1 NP_001692.1, NM_001701.3 |
3D structure databases
AlphaFoldDBi | Q14032 |
SMRi | Q14032 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107046, 34 interactors |
IntActi | Q14032, 36 interactors |
MINTi | Q14032 |
STRINGi | 9606.ENSP00000259407 |
Chemistry databases
DrugBanki | DB00145, Glycine DB01956, Taurine |
SwissLipidsi | SLP:000001309 |
Protein family/group databases
ESTHERi | human-BAAT, Acyl-CoA_Thioesterase |
MEROPSi | S09.A50 |
PTM databases
CarbonylDBi | Q14032 |
iPTMneti | Q14032 |
PhosphoSitePlusi | Q14032 |
Genetic variation databases
BioMutai | BAAT |
DMDMi | 74739811 |
Proteomic databases
MassIVEi | Q14032 |
MaxQBi | Q14032 |
PaxDbi | Q14032 |
PeptideAtlasi | Q14032 |
PRIDEi | Q14032 |
ProteomicsDBi | 59802 |
Protocols and materials databases
Antibodypediai | 14641, 213 antibodies from 29 providers |
DNASUi | 570 |
Genome annotation databases
Ensembli | ENST00000259407.7; ENSP00000259407.2; ENSG00000136881.12 ENST00000395051.4; ENSP00000378491.3; ENSG00000136881.12 ENST00000621712.2; ENSP00000484063.1; ENSG00000276559.2 ENST00000674556.1; ENSP00000501610.1; ENSG00000136881.12 |
GeneIDi | 570 |
KEGGi | hsa:570 |
MANE-Selecti | ENST00000259407.7; ENSP00000259407.2; NM_001701.4; NP_001692.1 |
UCSCi | uc010mtd.3, human |
Organism-specific databases
CTDi | 570 |
DisGeNETi | 570 |
GeneCardsi | BAAT |
HGNCi | HGNC:932, BAAT |
HPAi | ENSG00000136881, Tissue enriched (liver) |
MalaCardsi | BAAT |
MIMi | 602938, gene 619232, phenotype |
neXtProti | NX_Q14032 |
OpenTargetsi | ENSG00000136881 |
Orphaneti | 238475, Familial hypercholanemia |
PharmGKBi | PA25231 |
VEuPathDBi | HostDB:ENSG00000136881 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQ8Z, Eukaryota |
GeneTreei | ENSGT01010000222336 |
HOGENOMi | CLU_029849_4_0_1 |
InParanoidi | Q14032 |
OMAi | LTPFQVV |
OrthoDBi | 1260385at2759 |
PhylomeDBi | Q14032 |
TreeFami | TF314911 |
Enzyme and pathway databases
BRENDAi | 2.3.1.65, 2681 |
PathwayCommonsi | Q14032 |
Reactomei | R-HSA-159418, Recycling of bile acids and salts R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-9033241, Peroxisomal protein import |
SABIO-RKi | Q14032 |
SignaLinki | Q14032 |
Miscellaneous databases
BioGRID-ORCSi | 570, 8 hits in 1065 CRISPR screens |
GeneWikii | BAAT |
GenomeRNAii | 570 |
Pharosi | Q14032, Tbio |
PROi | PR:Q14032 |
RNActi | Q14032, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136881, Expressed in right lobe of liver and 76 other tissues |
Genevisiblei | Q14032, HS |
Family and domain databases
Gene3Di | 2.60.40.2240, 1 hit 3.40.50.1820, 1 hit |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR016662, Acyl-CoA_thioEstase_long-chain IPR014940, BAAT_C IPR006862, Thio_Ohase/aa_AcTrfase IPR042490, Thio_Ohase/BAAT_N |
Pfami | View protein in Pfam PF08840, BAAT_C, 1 hit PF04775, Bile_Hydr_Trans, 1 hit |
PIRSFi | PIRSF016521, Acyl-CoA_hydro, 1 hit |
SUPFAMi | SSF53474, SSF53474, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | BAAT_HUMAN | |
Accessioni | Q14032Primary (citable) accession number: Q14032 Secondary accession number(s): Q3B7W9, Q96L31 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 8, 2005 |
Last sequence update: | November 1, 1996 | |
Last modified: | May 25, 2022 | |
This is version 167 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families