2. Gene
  3. HIBADH - 3-hydroxyisobutyrate dehydrogenase Gene

HIBADH - 3-hydroxyisobutyrate dehydrogenase Gene

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

中文名称：3-羟基异丁酸脱氢酶

种属: Homo sapiens

同用名: NS5ATP1

基因 ID: 11112 | 基因类型: protein coding

关于 HIBADH

Cytogenetic location: 7p15.2 Genomic coordinates (GRCh38): 7:27,525,442-27,662,883 (from NCBI)

This gene has 4 transcripts (splice variants), 230 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 59.3), adrenal (RPKM 50.9) and 24 other tissues.

功能概要

该基因编码线粒体 3-羟基异丁酸脱氢酶。编码的蛋白质通过催化 3-羟基异丁酸氧化成甲基丙二酸半醛，在 L-缬氨酸的分解代谢中起关键作用。[RefSeq 提供，2011 年 11 月]

This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase Enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]

HIBADH 基因产物(1)

mRNA Protein Name
NM_152740.4 NP_689953.1 3-hydroxyisobutyrate dehydrogenase, mitochondrial 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 3-hydroxyisobutyrate dehydrogenase activity IDA
IDA: 通过直接分析推断
16466957 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in valine catabolic process IDA
IDA: 通过直接分析推断
16466957 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

HIBADH 蛋白结构

NAD_binding_2

NAD_binding_2: NAD binding domain of 6-phosphogluconate dehydrogenase (40 - 200)

NAD_binding_11

NAD_binding_11: NAD-binding of NADP-dependent 3-hydroxyisobutyrate dehydrogenase (203 - 330)

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

3-hydroxyisobutyrate dehydrogenase, mitochondrial

3'-hydroxyisobutyrate dehydrogenase

HIBADH 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
Intra HIBADH P31937 ADAM33 Homo sapiens Q08AM2
Validated Y2H
32296183
Intra HIBADH P31937 RTP2 Homo sapiens Q5QGT7
Validated Y2H
32296183
Intra HIBADH P31937 ERMP1 Homo sapiens Q7Z2K6
Validated Y2H
32296183
Intra HIBADH P31937 AGTRAP Homo sapiens Q6RW13-2
Validated Y2H
32296183
Intra HIBADH P31937 AIG1 Homo sapiens Q9NVV5-2
Validated Y2H
32296183
Intra HIBADH P31937 SNORC Homo sapiens Q6UX34
Validated Y2H
32296183
Intra HIBADH P31937 NDUFB11 Homo sapiens Q9NX14
Validated Y2H
32296183
Intra HIBADH P31937 CNIH2 Homo sapiens Q6PI25
Validated Y2H
32296183
Intra HIBADH P31937 TM6SF2 Homo sapiens Q9BZW4
Validated Y2H
32296183
Intra HIBADH P31937 PTCH1 Homo sapiens Q13635-3
Validated Y2H
32296183
Intra HIBADH P31937 PPGB Homo sapiens Q59EV6
Validated Y2H
32296183
Intra HIBADH P31937 SCARB2 Homo sapiens Q14108
Validated Y2H
32296183
Intra HIBADH P31937 CLEC2A Homo sapiens Q6UVW9
Validated Y2H
32296183
Intra HIBADH P31937 AMELY Homo sapiens Q99218-1
Validated Y2H
32296183
Intra HIBADH P31937 EFNA5 Homo sapiens P52803
Validated Y2H
32296183
Intra HIBADH P31937 TMEM86B Homo sapiens Q8N661
Validated Y2H
32296183
Intra HIBADH P31937 CMTM7 Homo sapiens Q96FZ5
Validated Y2H
32296183
Intra HIBADH P31937 AQP3 Homo sapiens Q92482
Validated Y2H
32296183
Intra HIBADH P31937 UBIAD1 Homo sapiens Q9Y5Z9
Validated Y2H
32296183
Intra HIBADH P31937 TMEM60 Homo sapiens Q9H2L4
Validated Y2H
32296183
Intra HIBADH P31937 TMEM222 Homo sapiens Q9H0R3
Validated Y2H
32296183
Intra HIBADH P31937 VAMP2 Homo sapiens P63027
Validated Y2H
32296183
Intra HIBADH P31937 TMEM14B Homo sapiens Q9NUH8
Validated Y2H
32296183
Intra HIBADH P31937 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
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
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
Interstitial Myocarditis
Athabaskan Brainstem Dysgenesis Syndrome

Bosley-Salih-Alorainy Syndrome

Navajo Brainstem Syndrome

ABDS

Human Hoxa1 Syndromes

BSAS

Athabaskan Brainstem Dysgenesis

Bosley Salih Alorainy Syndrome

Absd

Athabascan Brainstem Dysgenesis Syndrome

Narvajo Brainstem Syndrome
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome

Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome

GUTTS
Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome

Hfgs

Hfg Syndrome

Hfu Syndrome

HFG

Hfu

Hand Foot Uterus Syndrome

Hand Foot Genital Syndrome
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-RS06163 HIBADH Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus HIBADH MGD MGI:1889802
Rattus norvegicus HIBADH RGD RGD:708399
Felis catus HIBADH VGNC VGNC:67570
Canis familiaris HIBADH VGNC VGNC:99776
Macaca mulatta HIBADH VGNC VGNC:73378
Bos taurus HIBADH VGNC VGNC:29844
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