BAAT

Summary

BAAT (bile acid-CoA:amino acid N-acyltransferase, HGNC:932) is a protein-coding gene on chromosome 9q31.1, encoding Bile acid-CoA:amino acid N-acyltransferase (Q14032). Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine.

The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 570 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypercholanemia, familial 1 (Strong, GenCC) — +3 more curated relationships
• Clinical variants (ClinVar): 209 total — 5 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 11
• MANE Select transcript: NM_001701

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:932
Approved symbol	BAAT
Name	bile acid-CoA:amino acid N-acyltransferase
Location	9q31.1
Locus type	gene with protein product
Status	Approved
Aliases	BAT, BACAT
Ensembl gene	ENSG00000136881
Ensembl biotype	protein_coding
OMIM	602938
Entrez	570

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 16 protein_coding, 2 nonsense_mediated_decay

ENST00000259407, ENST00000395051, ENST00000674556, ENST00000674791, ENST00000674909, ENST00000904170, ENST00000904171, ENST00000904172, ENST00000904173, ENST00000904174, ENST00000904175, ENST00000904176, ENST00000904177, ENST00000904178, ENST00000904179, ENST00000904180, ENST00000904181, ENST00000904182

RefSeq mRNA: 3 — MANE Select: NM_001701 NM_001127610, NM_001374715, NM_001701

CCDS: CCDS6752

Canonical transcript exons

ENST00000259407 — 4 exons

Exon	Start	End
ENSE00000926593	101368120	101368322
ENSE00001022933	101360417	101363015
ENSE00001671567	101370939	101371463
ENSE00003902194	101384855	101385006

Expression profiles

Bgee: expression breadth ubiquitous, 105 present calls, max score 98.11.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9917 / max 338.6330, expressed in 31 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101737	0.8300	21
101735	0.0855	14
101736	0.0491	12
101734	0.0272	11

Top tissues by expression

123 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
liver	UBERON:0002107	98.11	gold quality
right lobe of liver	UBERON:0001114	97.89	gold quality
gall bladder	UBERON:0002110	89.49	gold quality
islet of Langerhans	UBERON:0000006	74.76	gold quality
quadriceps femoris	UBERON:0001377	73.05	gold quality
cerebellar vermis	UBERON:0004720	70.49	gold quality
superior frontal gyrus	UBERON:0002661	69.08	gold quality
primary visual cortex	UBERON:0002436	67.02	gold quality
gastrocnemius	UBERON:0001388	66.47	gold quality
muscle of leg	UBERON:0001383	65.41	gold quality
Brodmann (1909) area 9	UBERON:0013540	65.21	gold quality
skeletal muscle organ	UBERON:0014892	65.15	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	65.01	gold quality
pancreas	UBERON:0001264	64.63	gold quality
hindlimb stylopod muscle	UBERON:0004252	64.34	gold quality
prefrontal cortex	UBERON:0000451	63.80	gold quality
frontal cortex	UBERON:0001870	63.62	gold quality
cerebral cortex	UBERON:0000956	62.98	gold quality
right frontal lobe	UBERON:0002810	62.74	gold quality
anterior cingulate cortex	UBERON:0009835	62.67	gold quality
cerebellum	UBERON:0002037	62.29	gold quality
cerebellar cortex	UBERON:0002129	62.28	gold quality
cerebellar hemisphere	UBERON:0002245	62.19	gold quality
cortical plate	UBERON:0005343	61.90	gold quality
putamen	UBERON:0001874	60.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	60.20	gold quality
nucleus accumbens	UBERON:0001882	59.98	gold quality
body of pancreas	UBERON:0001150	59.47	gold quality
brain	UBERON:0000955	59.43	gold quality
caudate nucleus	UBERON:0001873	59.08	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-9	yes	53.64
E-ANND-3	no	2.62

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF4A

miRNA regulators (miRDB)

98 targeting BAAT, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-5010-3P	99.83	70.60	2357

Literature-anchored findings (GeneRIF, showing 9)

• there is an essential catalytic triad within hBAT consisting of Cys-235, His-362, and Asp-328 with Cys-235 serving as the probable nucleophile and thus the site of covalent attachment of the bile acid molecule (PMID:12239217)
• Familial hypercholanemia in Amish individuals is associated with mutations in tight junction protein 2 (encoded by TJP2, also known as ZO-2) and bile acid Coenzyme A: amino acid N-acyltransferase (encoded by BAAT). (PMID:12704386)
• cytosolic BACAT enzyme may play important roles in protection against toxicity by accumulation of unconjugated bile acids and non-esterified very long-chain fatty acids (PMID:12810727)
• hBAAT and rBaat are peroxisomal enzymes present in undetectable amounts in the cytosol. Unconjugated or deconjugated bile salts returning to the liver need to shuttle through the peroxisome before reentering the enterohepatic circulation. (PMID:17256745)
• identification of 3 novel SNPs, 147C>T in exon 2 (silent), 602G>C in exon 3 (Arg201Pro) & 1134C>T in exon 4 (silent), in the BAAT gene by resequencing the entire coding region and the exon-intron junctions of 100 Japanese individuals (PMID:17495420)
• Data show that dose-response inactivation by 4HNE (4-hydroxynonenal) of hBAT (human bile acid CoA:amino acid N-acyltransferase) and CKBB (cytosolic brain isoform of creatine kinase) is associated with site-specific modifications. (PMID:18793185)
• Case Report: mmunostaining may facilitate diagnosis in bile-acid amidation defects in bile acid-CoA: amino acid N-acyltransferase deficiency. (PMID:22783059)
• BAAT polymorphisms might not be associated with anti-tuberculosis drug-induced hepatotoxicity in the Chinese population (PMID:27155186)
• These results indicate that even small changes in the carboxy terminus of BAAT can have significant effects on activity and substrate specificity (PMID:27230263)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Baat	ENSMUSG00000039653
rattus_norvegicus	Baat	ENSRNOG00000007395
caenorhabditis_elegans	C31H5.6	WBGENE00007857
caenorhabditis_elegans		WBGENE00019404
caenorhabditis_elegans	T05E7.1	WBGENE00020258
caenorhabditis_elegans	W03D8.8	WBGENE00020989

Paralogs (4): ACOT2 (ENSG00000119673), ACOT4 (ENSG00000177465), ACOT1 (ENSG00000184227), ACOT6 (ENSG00000205669)

Protein

Protein identifiers

Bile acid-CoA:amino acid N-acyltransferase — Q14032 (reviewed: Q14032)

Alternative names: Bile acid-CoA thioesterase, Choloyl-CoA hydrolase, Glycine N-choloyltransferase, Long-chain fatty-acyl-CoA hydrolase

All UniProt accessions (3): A0A6Q8PF60, A0A6Q8PHR9, Q14032

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine. More than 95% of the BAs are N-acyl amidates with glycine and taurine. 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. 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. May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. 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.

Subunit / interactions. Monomer.

Subcellular location. Cytoplasm. Cytosol. Peroxisome.

Tissue specificity. Expressed in the gallbladder mucosa and pancreas. Expressed in hepatocytes (at protein level).

Disease relevance. Hypercholanemia, familial 3 (FHCA3) [MIM:619232] An 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. The disease is caused by variants affecting the gene represented in this entry.

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

RefSeq proteins (3): NP_001121082, NP_001361644, NP_001692* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006862	Thio_Ohase/aa_AcTrfase	Domain
IPR014940	BAAT_C	Domain
IPR016662	Acyl-CoA_thioEstase_long-chain	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR042490	Thio_Ohase/BAAT_N	Homologous_superfamily

Pfam: PF04775, PF08840

Enzyme classification (BRENDA):

• EC 2.3.1.65 — bile acid-CoA:amino acid N-acyltransferase (BRENDA: 9 organisms, 82 substrates, 21 inhibitors, 34 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
TAURINE	0.6–6.7	11
GLYCINE	2.14–40	10
CHOLOYL-COA	0.0072–0.185	6
2-FLUORO-BETA-ALANINE	2	1
AMINOMETHANESULFONATE	0.8	1
AMINOMETHANESULFONIC ACID	2	1
BETA-ALANINE	175	1

Catalyzed reactions (Rhea), 12 shown:

• choloyl-CoA + glycine = glycocholate + CoA + H(+) (RHEA:14001)
• choloyl-CoA + H2O = cholate + CoA + H(+) (RHEA:14541)
• hexadecanoyl-CoA + H2O = hexadecanoate + CoA + H(+) (RHEA:16645)
• dodecanoyl-CoA + H2O = dodecanoate + CoA + H(+) (RHEA:30135)
• octadecanoyl-CoA + H2O = octadecanoate + CoA + H(+) (RHEA:30139)
• chenodeoxycholoyl-CoA + H2O = chenodeoxycholate + CoA + H(+) (RHEA:31511)
• tetradecanoyl-CoA + H2O = tetradecanoate + CoA + H(+) (RHEA:40119)
• eicosanoyl-CoA + H2O = eicosanoate + CoA + H(+) (RHEA:40147)
• docosanoyl-CoA + H2O = docosanoate + CoA + H(+) (RHEA:40783)
• tetracosanoyl-CoA + H2O = tetracosanoate + CoA + H(+) (RHEA:40787)
• hexacosanoyl-CoA + H2O = hexacosanoate + CoA + H(+) (RHEA:40791)
• choloyl-CoA + taurine = taurocholate + CoA + H(+) (RHEA:47100)

UniProt features (19 total): mutagenesis site 7, sequence variant 6, active site 3, modified residue 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14032-F1	95.31	0.92

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 235 (charge relay system); 328 (charge relay system); 362 (charge relay system)

Post-translational modifications (2): 125, 416

Mutagenesis-validated functional residues (7):

Position	Phenotype
235	abolishes n-acyltransferase activity.
235	lowers n-acyltransferase activity; enhanced thioesterase activity presumably dependent on the formation of a bile acid-e
328	abolishes n-acyltransferase activity.
362	abolishes n-acyltransferase activity.
372	retains n-acyltransferase activity.
417	translocation to peroxisomes.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
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
R-HSA-1430728	Metabolism
R-HSA-192105	Synthesis of bile acids and bile salts
R-HSA-194068	Bile acid and bile salt metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8957322	Metabolism of steroids
R-HSA-9609507	Protein localization

MSigDB gene sets: 238 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, MODULE_172, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_REGENERATION, MODULE_335, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, LEE_LIVER_CANCER_CIPROFIBRATE_DN, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_BILE_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, CAGCAGG_MIR370

GO Biological Process (11): liver development (GO:0001889), bile acid conjugation (GO:0002152), glycine metabolic process (GO:0006544), fatty acid metabolic process (GO:0006631), acyl-CoA metabolic process (GO:0006637), bile acid biosynthetic process (GO:0006699), bile acid metabolic process (GO:0008206), taurine metabolic process (GO:0019530), animal organ regeneration (GO:0031100), lipid metabolic process (GO:0006629), monocarboxylic acid metabolic process (GO:0032787)

GO Molecular Function (13): obsolete N-acyltransferase activity (GO:0016410), acyltransferase activity (GO:0016746), choloyl-CoA hydrolase activity (GO:0033882), fatty acyl-CoA hydrolase activity (GO:0047617), glycine N-choloyltransferase activity (GO:0047963), carboxylic ester hydrolase activity (GO:0052689), medium-chain fatty acyl-CoA hydrolase activity (GO:0052815), long-chain fatty acyl-CoA hydrolase activity (GO:0052816), very long-chain fatty acyl-CoA hydrolase activity (GO:0052817), protein binding (GO:0005515), transferase activity (GO:0016740), hydrolase activity (GO:0016787), thiolester hydrolase activity (GO:0016790)

GO Cellular Component (4): peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Bile acid and bile salt metabolism	2
Synthesis of bile acids and bile salts	1
Protein localization	1
Metabolism of steroids	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acyl-CoA hydrolase activity	3
bile acid metabolic process	2
monocarboxylic acid metabolic process	2
acyl-CoA hydrolase activity	2
hydrolase activity, acting on ester bonds	2
catalytic activity	2
cellular anatomical structure	2
gland development	1
hepaticobiliary system development	1
proteinogenic amino acid metabolic process	1
lipid metabolic process	1
nucleoside phosphate metabolic process	1
sulfur compound metabolic process	1
purine-containing compound metabolic process	1
monocarboxylic acid biosynthetic process	1
steroid metabolic process	1
alkanesulfonate metabolic process	1
regeneration	1
animal organ development	1
primary metabolic process	1
carboxylic acid metabolic process	1
transferase activity	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
binding	1
microbody	1
peroxisome	1
microbody lumen	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

869 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BAAT	GLYAT	Q6IB77	882
BAAT	TJP2	Q9UDY2	844
BAAT	SLC27A5	Q9Y2P5	839
BAAT	TMOD1	P28289	814
BAAT	ALDOB	P05062	780
BAAT	AKR1D1	P51857	722
BAAT	CYP8B1	Q9UNU6	717
BAAT	CYP7A1	P22680	669
BAAT	ACOX2	Q99424	668
BAAT	ABCB11	O95342	663
BAAT	XPA	P23025	649
BAAT	TMC1	Q8TDI8	648
BAAT	ABCC2	Q92887	638
BAAT	CYP27A1	Q02318	634
BAAT	ENTREP1	Q15884	634

IntAct

68 interactions, top by confidence:

A	B	Type	Score
GOLGA8F	BAAT	psi-mi:“MI:0915”(physical association)	0.560
BAAT	GOLGA8DP	psi-mi:“MI:0915”(physical association)	0.560
BAAT	GOLGA8F	psi-mi:“MI:0915”(physical association)	0.560
GOLGA8DP	BAAT	psi-mi:“MI:0915”(physical association)	0.560
CASP6	BAAT	psi-mi:“MI:0915”(physical association)	0.560
HIP1	BAAT	psi-mi:“MI:0915”(physical association)	0.560
HMOX2	BAAT	psi-mi:“MI:0915”(physical association)	0.560
LAMP2	BAAT	psi-mi:“MI:0915”(physical association)	0.560
BAAT	PPIA	psi-mi:“MI:0915”(physical association)	0.560
RAN	BAAT	psi-mi:“MI:0915”(physical association)	0.560
BAAT	YWHAG	psi-mi:“MI:0915”(physical association)	0.560
BAAT	SETDB1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	BAAT	psi-mi:“MI:0915”(physical association)	0.560
SH3GLB1	BAAT	psi-mi:“MI:0915”(physical association)	0.560
PRPF40A	BAAT	psi-mi:“MI:0915”(physical association)	0.560
LMO3	BAAT	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (27): GOLGA8EP (Two-hybrid), GOLGA8F (Two-hybrid), GOLGA8DP (Two-hybrid), STAU1 (Affinity Capture-MS), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid), BAAT (Two-hybrid)

ESM2 similar proteins: A2A7Z8, A7LB60, P08910, P0DKC5, P0DKC6, P22760, P70683, P83006, Q05AK6, Q0P5B7, Q13093, Q14032, Q1LZ86, Q28017, Q32LS6, Q4R2Y9, Q4V8A1, Q502J0, Q5EA42, Q5PPS7, Q5VUY0, Q5VUY2, Q5XI64, Q5ZJL8, Q5ZKL5, Q60963, Q63276, Q6DHN0, Q6GLL2, Q6IE26, Q6P093, Q7L211, Q7M370, Q7SY73, Q7Z5M8, Q802V6, Q80UX8, Q8BM81, Q8IUS5, Q8R2Y0

Diamond homologs: A2AKK5, O55137, O55171, O88267, P49753, Q14032, Q32Q92, Q3I5F7, Q5FVR5, Q63276, Q6Q2Z6, Q86TX2, Q8BGG9, Q8BWN8, Q8N9L9, Q91X34, Q9QYR7, Q9QYR9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transcriptional Regulation by TP53	6	13.8×	1e-03
Cell Cycle	7	9.3×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of cell growth	5	21.2×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

209 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	1
Uncertain significance	132
Likely benign	28
Benign	24

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1048532	NM_001701.4(BAAT):c.1156G>A (p.Gly386Arg)	Pathogenic
1048533	NM_001701.4(BAAT):c.206A>T (p.Asp69Val)	Pathogenic
1048534	NM_001701.4(BAAT):c.58C>T (p.Arg20Ter)	Pathogenic
1048535	NM_001701.4(BAAT):c.250C>A (p.Pro84Thr)	Pathogenic
6720	NM_001701.4(BAAT):c.226A>G (p.Met76Val)	Pathogenic
3347294	NM_001701.4(BAAT):c.584del (p.Asn195fs)	Likely pathogenic

SpliceAI

510 predictions. Top by Δscore:

Variant	Effect	Δscore
9:101368118:A:AG	donor_loss	1.0000
9:101368318:CTCTC:C	acceptor_gain	1.0000
9:101368320:CTC:C	acceptor_gain	1.0000
9:101368118:A:AC	donor_gain	0.9900
9:101368119:C:CC	donor_gain	0.9900
9:101368321:TCC:T	acceptor_loss	0.9900
9:101368323:C:CC	acceptor_gain	0.9900
9:101368324:T:G	acceptor_loss	0.9900
9:101370934:CTCA:C	donor_loss	0.9900
9:101370935:TCA:T	donor_loss	0.9900
9:101370936:CACCT:C	donor_loss	0.9900
9:101371466:C:CT	acceptor_gain	0.9900
9:101383466:GTACC:G	donor_loss	0.9900
9:101383467:TAC:T	donor_loss	0.9900
9:101383468:A:C	donor_loss	0.9900
9:101383469:CC:C	donor_loss	0.9900
9:101383479:T:TA	donor_gain	0.9900
9:101360560:A:C	acceptor_gain	0.9800
9:101363014:ACCTG:A	acceptor_loss	0.9800
9:101363015:CCTGA:C	acceptor_loss	0.9800
9:101363017:T:A	acceptor_loss	0.9800
9:101368319:TCTC:T	acceptor_gain	0.9800
9:101368319:TCTCC:T	acceptor_gain	0.9800
9:101368320:CTCC:C	acceptor_gain	0.9800
9:101368321:TC:T	acceptor_gain	0.9800
9:101368321:TCCT:T	acceptor_gain	0.9800
9:101368322:CC:C	acceptor_gain	0.9800
9:101370937:A:AC	donor_gain	0.9800
9:101370938:C:CC	donor_gain	0.9800
9:101370938:CCTGG:C	donor_gain	0.9800

AlphaMissense

2712 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:101362470:A:C	F405L	0.963
9:101362470:A:T	F405L	0.963
9:101362472:A:G	F405L	0.963
9:101362490:A:G	W399R	0.959
9:101362490:A:T	W399R	0.959
9:101371273:A:C	F44L	0.958
9:101371273:A:T	F44L	0.958
9:101371275:A:G	F44L	0.958
9:101368252:G:C	S179R	0.954
9:101368252:G:T	S179R	0.954
9:101368254:T:G	S179R	0.954
9:101362911:A:C	N258K	0.949
9:101362911:A:T	N258K	0.949
9:101371015:C:A	R130S	0.946
9:101371015:C:G	R130S	0.946
9:101368156:A:C	F211L	0.943
9:101368156:A:T	F211L	0.943
9:101368158:A:G	F211L	0.943
9:101368244:G:T	A182D	0.942
9:101368231:G:C	F186L	0.939
9:101368231:G:T	F186L	0.939
9:101368233:A:G	F186L	0.939
9:101370949:A:C	F152L	0.937
9:101370949:A:T	F152L	0.937
9:101370951:A:G	F152L	0.937
9:101362488:C:A	W399C	0.928
9:101362488:C:G	W399C	0.928
9:101370950:A:G	F152S	0.925
9:101362921:A:T	V255E	0.922
9:101362686:G:C	S333R	0.917

dbSNP variants (sampled 300 via entrez): RS1000013898 (9:101378062 C>T), RS1000137492 (9:101361034 T>C), RS1000150914 (9:101378380 T>G), RS1000234731 (9:101360407 T>C), RS1000475633 (9:101359921 C>T), RS1000642892 (9:101373075 G>C), RS1000748604 (9:101366985 G>A), RS1000875847 (9:101372102 A>G), RS1000893545 (9:101360825 A>T), RS1000908164 (9:101372842 G>A), RS1000948835 (9:101372360 A>C), RS1001022122 (9:101379819 G>A), RS1001077600 (9:101380068 T>C), RS1001149959 (9:101380145 T>C), RS1001179552 (9:101360166 A>G)

Disease associations

OMIM: gene MIM:602938 | disease phenotypes: MIM:619232, MIM:607748, MIM:235400

GenCC curated gene-disease

Disease	Classification	Inheritance
bile acid conjugation defect 1	Strong	Autosomal recessive
hypercholanemia, familial 1	Strong	Autosomal recessive
familial hypercholanemia	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
bile acid CoA:amino acid N-acyltransferase deficiency	Moderate	AR

Mondo (4): bile acid conjugation defect 1 (MONDO:0030991), hypercholanemia, familial 1 (MONDO:0031446), hemolytic uremic syndrome, atypical, susceptibility to, 1 (MONDO:0009335), (MONDO:0011905)

Orphanet (3): Familial hypercholanemia (Orphanet:238475), Atypical hemolytic uremic syndrome (Orphanet:2134), Shiga toxin-associated hemolytic uremic syndrome (Orphanet:90038)

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000952	Jaundice
HP:0001399	Hepatic failure
HP:0002240	Hepatomegaly
HP:0002748	Rickets
HP:0002908	Conjugated hyperbilirubinemia
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0011463	Childhood onset
HP:0031956	Elevated circulating aspartate aminotransferase concentration
HP:0031964	Elevated circulating alanine aminotransferase concentration

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C564336	Hypercholanemia, Familial (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, affects cotreatment	5
Acetaminophen	affects cotreatment, decreases expression	2
Benzo(a)pyrene	decreases expression	2
Chenodeoxycholic Acid	decreases expression, affects cotreatment	2
Estradiol	decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
dicrotophos	decreases expression	1
methyleugenol	decreases expression	1
propionaldehyde	decreases expression	1
senecionine	decreases expression	1
potassium bromate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, affects response to substance, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
pentanal	decreases expression	1
nefazodone	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
ormosil	affects binding, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
picoxystrobin	decreases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Atazanavir Sulfate	affects cotreatment, decreases expression	1
Zoledronic Acid	increases expression	1
Cholic Acids	affects cotreatment, affects expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.