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UniProtKB - Q14032 (BAAT_HUMAN)

Entry version 167 (25 May 2022)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
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Protein

Bile acid-CoA:amino acid N-acyltransferase

Gene

BAAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=1.1 mM for taurine toward choloyl-CoA1 Publication
  2. KM=1.8 mM for taurine toward choloyl-CoA1 Publication
  3. KM=5.6 mM for glycine toward choloyl-CoA1 Publication
  4. KM=5.8 mM for glycine toward choloyl-CoA1 Publication
  5. KM=2.2 mM for 2-fluoro-beta-alanine toward choloyl-CoA1 Publication
  6. KM=19.3 µM for glycine toward arachidoyl-CoA1 Publication
  7. KM=50.02 µM for choloyl-CoA (acyl-CoA thioesterase activity)1 Publication
  1. Vmax=0.33 µmol/min/mg enzyme with taurine as substrate for acyltransferase activity1 Publication
  2. Vmax=0.19 µmol/min/mg enzyme with 2-fluoro-beta-alanine as substrate for acyltransferase activity1 Publication
  3. Vmax=0.77 µmol/min/mg enzyme with glycine as substrate for acyltransferase activity1 Publication
  4. Vmax=223 nmol/min/mg enzyme with arachidoyl-CoA as substrate for acyl-CoA thioesterase activity1 Publication
  5. Vmax=1.48 µmol/min/µg enzyme for acyl-CoA thioesterase activity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei235Charge relay systemCurated1
Active sitei328Charge relay systemCurated1
Active sitei362Charge relay systemCurated1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Hydrolase, Serine esterase, Transferase
Biological processFatty acid metabolism, Lipid metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.1.65, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q14032

Reactome - a knowledgebase of biological pathways and processes

More...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-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q14032

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q14032

Protein family/group databases

ESTHER database of the Alpha/Beta-hydrolase fold superfamily of proteins

More...ESTHERi		human-BAAT, Acyl-CoA_Thioesterase

MEROPS protease database

More...MEROPSi		S09.A50

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001309

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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):
Bile acid-CoA thioesterase2 Publications
Choloyl-CoA hydrolase (EC:3.1.2.273 Publications)
Glycine N-choloyltransferase
Long-chain fatty-acyl-CoA hydrolase1 Publication (EC:3.1.2.21 Publication)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BAAT
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:932, BAAT

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602938, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14032

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000136881

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Peroxisome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bile acid conjugation defect 1 (BACD1)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive metabolic disorder characterized by reduced biliary secretion of conjugated bile acids, fat malabsorption, and fat-soluble vitamin deficiency. Clinical manifestations include rickets with variable growth failure due to vitamin D deficiency, and coagulopathy due to deficiency of vitamin K-dependent clotting factors. Additional variable features include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08549220 – 418Missing in BACD1; contrary to wild-type, undetectable expression in hepatocytes. 1 PublicationAdd BLAST399
Natural variantiVAR_08549369D → V in BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes. 1 Publication1
Natural variantiVAR_02373776M → V in BACD1. 1 PublicationCorresponds to variant dbSNP:rs28937579EnsemblClinVar.1
Natural variantiVAR_08549484P → T in BACD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_085495386G → R in BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi235C → A: Abolishes N-acyltransferase activity. 2 Publications1
Mutagenesisi235C → 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 Publications1
Mutagenesisi328D → A: Abolishes N-acyltransferase activity. 2 Publications1
Mutagenesisi362H → A: Abolishes N-acyltransferase activity. 1 Publication1
Mutagenesisi362H → Q: Abolishes N-acyltransferase activity. 1 Publication1
Mutagenesisi372C → A: Retains N-acyltransferase activity. 1 Publication1
Mutagenesisi417Q → K: Translocation to peroxisomes. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		570

MalaCards human disease database

More...MalaCardsi		BAAT
MIMi619232, phenotype

Open Targets

More...OpenTargetsi		ENSG00000136881

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		238475, Familial hypercholanemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25231

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14032, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00145, Glycine
DB01956, Taurine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BAAT

Domain mapping of disease mutations (DMDM)

More...DMDMi		74739811

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002021591 – 418Bile acid-CoA:amino acid N-acyltransferaseAdd BLAST418

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei125PhosphoserineBy similarity1
Modified residuei416PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14032

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14032

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q14032

PeptideAtlas

More...PeptideAtlasi		Q14032

PRoteomics IDEntifications database

More...PRIDEi		Q14032

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59802

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q14032

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14032

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q14032

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the gallbladder mucosa and pancreas (PubMed:2037576, PubMed:12810727). Expressed in hepatocytes (at protein level) (PubMed:2037576, PubMed:12810727, PubMed:23415802).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136881, Expressed in right lobe of liver and 76 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14032, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000136881, Tissue enriched (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107046, 34 interactors

Protein interaction database and analysis system

More...IntActi		Q14032, 36 interactors

Molecular INTeraction database

More...MINTi		Q14032

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000259407

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14032, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q14032

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q14032

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the C/M/P thioester hydrolase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QQ8Z, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01010000222336

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_029849_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14032

Identification of Orthologs from Complete Genome Data

More...OMAi		LTPFQVV

Database of Orthologous Groups

More...OrthoDBi		1260385at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14032

TreeFam database of animal gene trees

More...TreeFami		TF314911

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.2240, 1 hit
3.40.50.1820, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08840, BAAT_C, 1 hit
PF04775, Bile_Hydr_Trans, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF016521, Acyl-CoA_hydro, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53474, SSF53474, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q14032-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:418
Mass (Da):46,299
Last modified:November 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4B290BAEE97F23B3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A6Q8PF60A0A6Q8PF60_HUMAN
Bile acid-CoA:amino acid N-acyltran...
BAAT
277Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHR9A0A6Q8PHR9_HUMAN
Bile acid-CoA:amino acid N-acyltran...
BAAT
291Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08549220 – 418Missing in BACD1; contrary to wild-type, undetectable expression in hepatocytes. 1 PublicationAdd BLAST399
Natural variantiVAR_05230320R → Q3 PublicationsCorresponds to variant dbSNP:rs1572983EnsemblClinVar.1
Natural variantiVAR_08549369D → V in BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes. 1 Publication1
Natural variantiVAR_02373776M → V in BACD1. 1 PublicationCorresponds to variant dbSNP:rs28937579EnsemblClinVar.1
Natural variantiVAR_08549484P → T in BACD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_085495386G → R in BACD1; unknown pathological significance; contrary to wild-type, undetectable expression in hepatocytes. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6752.1

Protein sequence database of the Protein Information Resource

More...PIRi		A53965

NCBI Reference Sequences

More...RefSeqi		NP_001121082.1, NM_001127610.1
NP_001692.1, NM_001701.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		570

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:570

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000259407.7; ENSP00000259407.2; NM_001701.4; NP_001692.1

UCSC genome browser

More...UCSCi		uc010mtd.3, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS6752.1
PIRiA53965
RefSeqiNP_001121082.1, NM_001127610.1
NP_001692.1, NM_001701.3

3D structure databases

AlphaFoldDBiQ14032
SMRiQ14032
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107046, 34 interactors
IntActiQ14032, 36 interactors
MINTiQ14032
STRINGi9606.ENSP00000259407

Chemistry databases

DrugBankiDB00145, Glycine
DB01956, Taurine
SwissLipidsiSLP:000001309

Protein family/group databases

ESTHERihuman-BAAT, Acyl-CoA_Thioesterase
MEROPSiS09.A50

PTM databases

CarbonylDBiQ14032
iPTMnetiQ14032
PhosphoSitePlusiQ14032

Genetic variation databases

BioMutaiBAAT
DMDMi74739811

Proteomic databases

MassIVEiQ14032
MaxQBiQ14032
PaxDbiQ14032
PeptideAtlasiQ14032
PRIDEiQ14032
ProteomicsDBi59802

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		14641, 213 antibodies from 29 providers

The DNASU plasmid repository

More...DNASUi		570

Genome annotation databases

EnsembliENST00000259407.7; ENSP00000259407.2; ENSG00000136881.12
ENST00000395051.4; ENSP00000378491.3; ENSG00000136881.12
ENST00000621712.2; ENSP00000484063.1; ENSG00000276559.2
ENST00000674556.1; ENSP00000501610.1; ENSG00000136881.12
GeneIDi570
KEGGihsa:570
MANE-SelectiENST00000259407.7; ENSP00000259407.2; NM_001701.4; NP_001692.1
UCSCiuc010mtd.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		570
DisGeNETi570

GeneCards: human genes, protein and diseases

More...GeneCardsi		BAAT
HGNCiHGNC:932, BAAT
HPAiENSG00000136881, Tissue enriched (liver)
MalaCardsiBAAT
MIMi602938, gene
619232, phenotype
neXtProtiNX_Q14032
OpenTargetsiENSG00000136881
Orphaneti238475, Familial hypercholanemia
PharmGKBiPA25231
VEuPathDBiHostDB:ENSG00000136881

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QQ8Z, Eukaryota
GeneTreeiENSGT01010000222336
HOGENOMiCLU_029849_4_0_1
InParanoidiQ14032
OMAiLTPFQVV
OrthoDBi1260385at2759
PhylomeDBiQ14032
TreeFamiTF314911

Enzyme and pathway databases

BRENDAi2.3.1.65, 2681
PathwayCommonsiQ14032
ReactomeiR-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-RKiQ14032
SignaLinkiQ14032

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		570, 8 hits in 1065 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BAAT

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		570
PharosiQ14032, Tbio

Protein Ontology

More...PROi		PR:Q14032
RNActiQ14032, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136881, Expressed in right lobe of liver and 76 other tissues
GenevisibleiQ14032, HS

Family and domain databases

Gene3Di2.60.40.2240, 1 hit
3.40.50.1820, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF08840, BAAT_C, 1 hit
PF04775, Bile_Hydr_Trans, 1 hit
PIRSFiPIRSF016521, Acyl-CoA_hydro, 1 hit
SUPFAMiSSF53474, SSF53474, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBAAT_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14032
Secondary accession number(s): Q3B7W9, Q96L31
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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