2. Gene
  3. BAAT - bile acid-CoA:amino acid N-acyltransferase Gene

BAAT - bile acid-CoA:amino acid N-acyltransferase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：胆汁酸辅酶 A:氨基酸 N-酰基转移酶

种属: Homo sapiens

同用名: BAT; HCHO; BACAT; BACD1

基因 ID: 570 | 基因类型: protein coding

关于 BAAT

Cytogenetic location: 9q31.1 Genomic coordinates (GRCh38): 9:101,360,417-101,385,006 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 372 orthologues, 4 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 152.3).

功能概要

该基因编码的蛋白质是一种肝酶，可催化 C24 胆汁酸从酰基辅酶 A 硫酯转移到甘氨酸或牛磺酸，这是胆汁酸-氨基酸结合物形成的第二步。然后，胆汁酸结合物在胃肠道中充当清洁剂，增强脂质和脂溶性维生素的吸收。该基因的缺陷是家族性高胆碱血症 (FHCA) 的一个原因。已发现该基因编码相同蛋白质的两个转录变体。[RefSeq 提供，2008 年 7 月]

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. [provided by RefSeq, Jul 2008]

BAAT 基因产物(3)

mRNA Protein Name
NM_001127610.2 NP_001121082.1 bile acid-CoA:amino acid N-acyltransferase
NM_001374715.1 NP_001361644.1 bile acid-CoA:amino acid N-acyltransferase
NM_001701.4 NP_001692.1 bile acid-CoA:amino acid N-acyltransferase
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables N-acyltransferase activity IDA
IDA: 通过直接分析推断
12239217 GOA
enables glycine N-choloyltransferase activity IDA
IDA: 通过直接分析推断
2037576 GOA
enables long-chain fatty acyl-CoA hydrolase activity IDA
IDA: 通过直接分析推断
12810727 GOA
enables medium-chain fatty acyl-CoA hydrolase activity IDA
IDA: 通过直接分析推断
12810727 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables very long-chain fatty acyl-CoA hydrolase activity IDA
IDA: 通过直接分析推断
12810727 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acyl-CoA metabolic process IDA
IDA: 通过直接分析推断
12810727 GOA
involved in bile acid biosynthetic process IDA
IDA: 通过直接分析推断
8034703 GOA
involved in bile acid conjugation IDA
IDA: 通过直接分析推断
2037576 GOA
involved in glycine metabolic process IDA
IDA: 通过直接分析推断
8034703 GOA
involved in taurine metabolic process IDA
IDA: 通过直接分析推断
8034703 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
8034703 GOA
located in peroxisome IDA
IDA: 通过直接分析推断
17256745 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BAAT 蛋白结构

Bile_Hydr_Trans

Bile_Hydr_Trans: Acyl-CoA thioester hydrolase/BAAT N-terminal region (13 - 145)

BAAT_C

BAAT_C: BAAT / Acyl-CoA thioester hydrolase C terminal (206 - 410)

  • 0
  • 100
  • 200
  • 300
  • 418 a.a.
蛋白主名 其他名称

bile acid-CoA:amino acid N-acyltransferase

bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)

BAAT 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BAAT Q14032 GOLGA8F Homo sapiens Q08AF8
Validated Y2H
25416956
种属内
BAAT Q14032 GOLGA8F Homo sapiens Q08AF8
Y2H Array
25416956
种属内
BAAT Q14032 GOLGA8DP Homo sapiens Q0D2H9
Y2H Prey Pooling
25416956
种属内
BAAT Q14032 GOLGA8DP Homo sapiens Q0D2H9
Y2H Array
25416956
种属内
BAAT Q14032 PPIA Homo sapiens P62937-2
Y2H Array
32814053
种属内
BAAT Q14032 PPIA Homo sapiens P62937-2
Validated Y2H
32814053
种属内
BAAT Q14032 PPIA Homo sapiens P62937-2
Y2H Pooling
32814053
种属内
BAAT Q14032 YWHAG Homo sapiens P61981
Y2H Pooling
32814053
种属内
BAAT Q14032 YWHAG Homo sapiens P61981
Validated Y2H
32814053
种属内
BAAT Q14032 YWHAG Homo sapiens P61981
Y2H Array
32814053
种属内
BAAT Q14032 SETDB1 Homo sapiens Q15047-2
Y2H Pooling
32814053
种属内
BAAT Q14032 SETDB1 Homo sapiens Q15047-2
Validated Y2H
32814053
种属内
BAAT Q14032 SETDB1 Homo sapiens Q15047-2
Y2H Array
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Bile Acid Conjugation Defect 1

BACD1
Familial Hypercholanemia

Hypercholanemia, Familial

Hereditary Hypercholanemia
Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]
Bile Acid Synthesis Defect, Congenital, 3

Congenital Bile Acid Synthesis Defect 3

CBAS3

Oxysterol 7-Alpha-Hydroxylase Deficiency

Congenital Bile Acid Synthesis Defect Type 3

Basd3

Bile Acid Synthesis Defect, Congenital, Type 3
Exhibitionism
Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic

Pfic

Byler Disease

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Bsep Deficiency

Byler Disease

Byler Syndrome

Fic1 Deficiency

Low Γ-Gt Familial Intrahepatic Cholestasis

Mdr3 Deficiency

Pfic

Cholestasis, Intrahepatic, Familial, Progressive

Pfic - [Progressive Familial Intrahepatic Cholestasis]
Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1

Byler Disease

Cholestasis, Progressive Familial Intrahepatic 1

Progressive Familial Intrahepatic Cholestasis 1

Progressive Familial Intrahepatic Cholestasis Type 1

Fic1 Deficiency

Byler'S Disease

Cholestasis, Fatal Intrahepatic

Progressive Familial Intrahepatic Cholestasis

Severe Atp8b1 Deficiency

Fatal Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Familial, Progressive, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3
Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy

Gravidic Intrahepatic Cholestasis

Pregnancy-Related Cholestasis

Icp

Pregnancy Related Cholestasis

Cholestasis, Intrahepatic Of Pregnancy

Familial Intrahepatic Cholestasis Of Pregnancy

Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

Ricp

Obstetric Cholestasis
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01330 BAAT Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris BAAT VGNC VGNC:56064
Mus musculus BAAT MGD MGI:106642
Macaca mulatta BAAT VGNC VGNC:104878
Rattus norvegicus BAAT RGD RGD:2190
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