1. Gene
  2. BCKDK - branched chain keto acid dehydrogenase kinase Gene

BCKDK - branched chain keto acid dehydrogenase kinase Gene

中文名称:支链酮酸脱氢酶激酶

种属: Homo sapiens

同用名: BDK; BCKDKD

基因 ID: 10295 | 基因类型: protein coding

关于 BCKDK

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,108,386-31,117,640 (from NCBI)

This gene has 10 transcripts (splice variants), 188 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 12.8), heart (RPKM 12.4) and 25 other tissues.

功能概要

支链 α-酮酸脱氢酶复合物 (BCKD) 是缬氨酸、亮氨酸和异亮氨酸分解代谢途径的重要调节剂。由该基因编码的蛋白质存在于线粒体中,在那里它使 BCKD 磷酸化和失活。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2012 年 12 月]

The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

BCKDK 基因产物(3)

mRNA Protein Name
NM_001122957.4 NP_001116429.1 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform b precursor
NM_001271926.3 NP_001258855.1 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform c
NM_005881.4 NP_005872.2 [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial isoform a precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
18985028 GOA
enables protein serine/threonine phosphatase activity IDA
IDA: 通过直接分析推断
29779826 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lipid biosynthetic process IMP
IMP: 通过突变表型推断
29779826 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

BCKDK 蛋白结构

BCDHK_Adom3

BCDHK_Adom3: Mitochondrial branched-chain alpha-ketoacid dehydrogenase kinase (70 - 223)

HATPase_c

HATPase_c: Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase (266 - 402)

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

[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial

3-methyl-2-oxobutanoate dehydrogenase [lipoamide] kinase, mitochondrial

BCKD-kinase

BCKDK 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
BCKDK O14874 SPTA1 Homo sapiens P02549
Validated Y2H
32296183
种属内
BCKDK O14874 SPTA1 Homo sapiens P02549
Y2H Array
32296183
种属内
BCKDK O14874 SPTA1 Homo sapiens P02549
Y2H Prey Pooling
32296183
种属内
BCKDK O14874 STAT3 Homo sapiens P40763
Pull Down
21988832
种属间
BCKDK O14874 Q9WMX2-PRO_0000037548 Hepatitis C virus Q9WMX2-PRO_0000037548
Y2H Prey Pooling
18985028
种属间
BCKDK O14874 Q9WMX2-PRO_0000037548 Hepatitis C virus Q9WMX2-PRO_0000037548
Pull Down
18985028
种属间: 跨种属相互作用 种属内: 同种属相互作用

BCKDK 抗体

目录号 产品名 应用 反应物种
HY-P82992 BCKDK Antibody (YA2737) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

BCKDKD

Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency

Bckdk Deficiency

Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency

Maple Syrup Urine Disease

MSUD

Bckd Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

Keto Acid Decarboxylase Deficiency

Maple Syrup Urine Disease, Type Ii

Branched Chain Ketoaciduria

Classic Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Ia

Ketoacidaemia

Bckdh Deficiency

Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

Thiamine-Responsive Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Maple Syrup Urine Disease Type 1a

Maple Syrup Urine Disease Type 1b

Maple Syrup Urine Disease Type 2

Maple Syrup Urine Disease, Type Ib

Dihydrolipoamide Dehydrogenase Deficiency

Branched-Chain Ketoacid Dehydrogenase Deficiency

Maple Syrup Disease

Ketoacidemia

Classic Bckd Deficiency

Classic Msud

Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Classic Branched-Chain Ketoaciduria

Thiamine-Responsive Bckd Deficiency

Thiamine-Responsive Msud

Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Intermittent Bckd Deficiency

Intermittent Msud

Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease 1a

MSUD1A

Maple Syrup Urine Disease Type Ia

Msud Type Ia

Maple Syrup Urine Disease 1b

MSUD1B

Maple Syrup Urine Disease Type Ib

Msud Type Ib

Maple Syrup Urine Disease 2

MSUD2

Maple Syrup Urine Disease Type Ii

Msud Type Ii

Nadh Cytochrome B5 Reductase Deficiency

Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Ketonemia

Maple Syrup Urine Disease, Type 1b

Ketoacid Decarboxylase Deficiency

Oxoacid Decarboxylase Deficiency

Branched Chain Ketoacid Dehydrogenase Deficiency

Msud - [Maple-Syrup-Urine Disease]

Ketoaminoacidaemia

Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

Maple-Syrup-Urine Disorder

Maple-Syrup-Urine Syndrome

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

CMTX6

Charcot-Marie-Tooth Disease X-Linked Dominant 6

Cmt6x

X-Linked Charcot-Marie-Tooth Disease Type 6

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 6

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 6

Charcot-Marie-Tooth Neuropathy X-Linked 6

Charcot-Marie-Tooth Disease, X-Linked, Type 6

Kaufman Oculocerebrofacial Syndrome

KOS

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Oculocerebrofacial Syndrome, Kaufman Type

Bpids

Blepharophimosis Ptosis Intellectual Disability Syndrome

Blepharophimosis-Ptosis-Intellectual Disability Syndrome

Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet

Bpid Syndrome

Ceroid Lipofuscinosis, Neuronal, 2

Jansky-Bielschowsky Disease

Neuronal Ceroid Lipofuscinosis 2

CLN2

Lincl

Cln2 Disease

Late-Infantile Neuronal Ceroid Lipofuscinosis

Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset

Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset

Cln2 Disease, Juvenile

Cln2 Disease, Late Infantile

Late-Infantile Batten Disease

Neuronal Ceroid Lipofuscinosis, Late-Infantile

Classic Late Infantile Ncl

Classic Late Infantile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset

Lipofuscinosis, Ceroid, Neuronal, Type 2

Late-Infantile Neuronal Ceroid Lipfuscinosis

Glutamate Formiminotransferase Deficiency

Formiminoglutamic Aciduria

Formiminotransferase Deficiency

FIGLU-URIA

Arakawa Syndrome 1

Formiminoglutamic Acidemia

Formiminotransferase Cyclodeaminase Deficiency

Formiminotransferase Deficiency Syndrome

Ftcd Deficiency

Formiminoglutamicaciduria

Figluria

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic

3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria

Mcc Deficiency

Methylcrotonyl-Coa Carboxylase Deficiency

Bmcc Deficiency

3-Mcc Deficiency

3mcc

Mccd

3mcc Deficiency

Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Mcc

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

Deficiency Of Methylcrotonoyl-Coa Carboxylase

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Propionic Acidemia

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta BCKDK VGNC VGNC:70085
Felis catus BCKDK VGNC VGNC:60082
Rattus norvegicus BCKDK RGD RGD:2198
Mus musculus BCKDK MGD MGI:1276121
Canis familiaris BCKDK VGNC VGNC:38407
Bos taurus BCKDK VGNC VGNC:26444
Others BCKDK NCBI