2. Gene
  3. DLAT - dihydrolipoamide S-acetyltransferase Gene

DLAT - dihydrolipoamide S-acetyltransferase Gene

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

中文名称：二氢硫辛酰胺 S-乙酰转移酶

种属: Homo sapiens

同用名: E2; PBC; DLTA; PDCE2; PDC-E2

基因 ID: 1737 | 基因类型: protein coding

关于 DLAT

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,025,408-112,064,404 (from NCBI)

This gene has 19 transcripts (splice variants), 217 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 30.4), fat (RPKM 17.2) and 24 other tissues.

功能概要

该基因编码多酶丙酮酸脱氢酶复合物 (PDC) 的组分 E2。 PDC 位于线粒体内膜，催化丙酮酸转化为乙酰辅酶 A。该基因的蛋白质产物二氢硫辛酰胺乙酰转移酶接受丙酮酸氧化脱羧形成的乙酰基，并将其转移至辅酶 A。二氢硫辛酰胺乙酰转移酶是抗原用于抗线粒体抗体。这些自身抗体存在于近 95% 的自身免疫性肝病原发性胆汁性肝硬化 (PBC) 患者中。在 PBC 中，活化的 T 淋巴细胞攻击并破坏胆管中的上皮细胞，该蛋白质在该处异常分布和过度表达。 PBC 最终导致肝硬化和肝功能衰竭。该基因的突变也是丙酮酸脱氢酶 E2 缺乏症的一个原因，丙酮酸脱氢酶 E2 缺乏症会导致婴儿和幼儿期发生原发性乳酸酸中毒。[RefSeq 提供，2009 年 10 月]

This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial Antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]

DLAT 基因产物(13)

mRNA Protein Name
NM_001372031.1 NP_001358960.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 1 precursor
NM_001372032.1 NP_001358961.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 3 precursor
NM_001372033.1 NP_001358962.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 4
NM_001372034.1 NP_001358963.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 5
NM_001372035.1 NP_001358964.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 6
NM_001372036.1 NP_001358965.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 7
NM_001372037.1 NP_001358966.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 8
NM_001372038.1 NP_001358967.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 9
NM_001372039.1 NP_001358968.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 10
NM_001372040.1 NP_001358969.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 11
NM_001372041.1 NP_001358970.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 12
NM_001372042.1 NP_001358971.1 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 13
NM_001931.5 NP_001922.2 dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor
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 dihydrolipoyllysine-residue acetyltransferase activity IDA
IDA: 通过直接分析推断
9045657 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
18184587 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15861126 GOA
contributes to pyruvate dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
9242632 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acetyl-CoA biosynthetic process from pyruvate IDA
IDA: 通过直接分析推断
24534072 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of pyruvate dehydrogenase complex IDA
IDA: 通过直接分析推断
9242632 GOA
part of pyruvate dehydrogenase complex IPI
IPI: 通过物理相互作用推断
19240034 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

DLAT 蛋白结构

Biotin_lipoyl

Biotin_lipoyl: Biotin-requiring enzyme (93 - 164)

Biotin_lipoyl

Biotin_lipoyl: Biotin-requiring enzyme (220 - 293)

E3_binding

E3_binding: e3 binding domain (353 - 390)

2-oxoacid_dh

2-oxoacid_dh: 2-oxoacid dehydrogenases acyltransferase (catalytic domain) (420 - 647)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 647 a.a.
蛋白主名 其他名称

dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial

70 kDa mitochondrial autoantigen of primary biliary cirrhosis

重组 DLAT 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75286 DLAT Protein, Human (sf9, His) P10515 (S87-L647) ≥95%

关联疾病

疾病名称 别名
Pyruvate Dehydrogenase E2 Deficiency

Lactic Acidemia Due To Defect Of E2 Lipoyl Transacetylase Of The Pyruvate Dehydrogenase Complex

PDHDD

Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex Deficiency

Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Dehydrogenase Complex Component E2 Deficiency

PDHE2 DEFICIENCY
Cholangitis

Acute Cholangiolitis

Ascending Cholangitis

Cholangiolitis

Cholangitis Nos

Chronic Cholangiolitis

Hepatic Duct Inflammation

Acute Cholangitis

Bile Duct Inflammation
Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure
Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune
Autoimmune Cholangitis

Autoimmune Cholangiopathy
Suppurative Cholangitis
Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis
Ulnar Neuropathy

Ulnar Neuropathies
Ulnar Nerve Lesion

Lesion Of Ulnar Nerve

Mononeuritis Ulnar Nerve

Tardy Ulnar Nerve Palsy
Chronic Cholangitis
Chancroid

Ulcus Molle, Skin

Chancroids

Bubo Due To Haemophilus Ducreyi

Soft Chancre

Ulcus Molle
Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Complex Deficiency

Pyruvate Decarboxylase Deficiency

Pdh Deficiency

PDHAD

Pyruvate Dehydrogenase Complex Deficiency Disease

Ataxia With Lactic Acidosis I

Ataxia With Lactic Acidosis 1

Pdh

Pdhc

Ataxia With Lactic Acidosis

Ataxia, Intermittent, With Abnormal Pyruvate Metabolism

Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency

Deficiency Of Pyruvic Dehydrogenase

Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency

Pdc Deficiency

Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency

Pdhc Deficiency

Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency

Ataxia Intermittent With Abnormal Pyruvate Metabolism

Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency

Pyruvate Dehydrogenase E1 Alpha Deficiency

Pdc - [Pyruvate Dehydrogenase Complex] Deficiency

Ataxia With Lactic Acidosis 2
Combined Oxidative Phosphorylation Deficiency 33

COXPD33
Autoimmune Disease Of Gastrointestinal Tract
Sclerosing Cholangitis

Fibrosing Cholangitis

Cholangitis, Sclerosing

Primary Sclerosing Cholangitis
Nystagmus 3, Congenital, Autosomal Dominant

NYS3

Congenital Nystagmus 3

Autosomal Dominant Congenital Nystagmus 3
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease
Amelogenesis Imperfecta, Type Ie

Aih1

Amelogenesis Imperfecta Type 1e

AI1E

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth

Enamel Hypoplasia, X-Linked

Amelogenesis Imperfecta Type Ie

Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1

Enamel Hypoplasia X-Linked

Amelogenesis Imperfecta, X-Linked 1

Amelogenesis Imperfecta, Type 1e

Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth

X-Linked Amelogenesis Imperfecta 1

X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1

X-Linked Enamel Hypoplasia

Amelogenesis Imperfecta X-Linked 1

Amelogenesis Imperfecta 1e

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e

Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth

Xai

X-Linked Amelogenesis Imperfecta

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03792 DLAT Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-116330 Hyperforin / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus DLAT RGD RGD:619859
Canis familiaris DLAT VGNC VGNC:39974
Bos taurus DLAT VGNC VGNC:109392
Macaca mulatta DLAT VGNC VGNC:110501
Felis catus DLAT VGNC VGNC:61508
Mus musculus DLAT MGD MGI:2385311
Others DLAT NCBI
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