1. Gene
  2. HSD17B10 - hydroxysteroid 17-beta dehydrogenase 10 Gene

HSD17B10 - hydroxysteroid 17-beta dehydrogenase 10 Gene

中文名称:羟基类固醇 17-β 脱氢酶 10

种属: Homo sapiens

同用名: ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; HSD10MD; 17b-HSD10; DUPXp11.22

基因 ID: 3028 | 基因类型: protein coding

关于 HSD17B10

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:53,431,258-53,434,376 (from NCBI)

This gene has 9 transcripts (splice variants), 214 orthologues, 25 paralogues and is associated with 6 phenotypes. Ubiquitous expression in liver (RPKM 63.6), kidney (RPKM 48.2) and 25 other tissues.

功能概要

该基因编码 II 型 3-羟基酰基辅酶 A 脱氢酶,它是短链脱氢酶/还原酶超家族的成员。该基因产物是一种线粒体蛋白,可催化多种脂肪酸和类固醇的氧化,是参与 tRNA 成熟的线粒体核糖核酸酶 P 的亚基。该蛋白质与阿尔茨海默病的发展有关,该基因的突变是导致 10 型 17β-羟基类固醇脱氢酶 (HSD10) 缺乏症的原因。已经确定了几种可变剪接的转录本变体,但只有两个转录本变体的全长性质已经确定。[RefSeq 提供,2014 年 8 月]

This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and Steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]

HSD17B10 基因产物(2)

mRNA Protein Name
NM_001037811.2 NP_001032900.1 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2
NM_004493.3 NP_004484.1 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in C21-steroid hormone metabolic process IDA
IDA: 通过直接分析推断
12917011 GOA
involved in androgen metabolic process IDA
IDA: 通过直接分析推断
12917011 GOA
involved in bile acid biosynthetic process IDA
IDA: 通过直接分析推断
12917011 GOA
involved in brexanolone metabolic process IDA
IDA: 通过直接分析推断
19706438 GOA
involved in estrogen metabolic process IDA
IDA: 通过直接分析推断
12917011 GOA
involved in fatty acid beta-oxidation IDA
IDA: 通过直接分析推断
12917011 GOA
involved in isoleucine catabolic process IDA
IDA: 通过直接分析推断
18996107 GOA
involved in mitochondrial tRNA 3'-end processing IDA
IDA: 通过直接分析推断
29040705 GOA
involved in mitochondrial tRNA 5'-end processing IDA
IDA: 通过直接分析推断
24549042 GOA
involved in mitochondrial tRNA methylation IDA
IDA: 通过直接分析推断
23042678 GOA
involved in mitochondrion organization IMP
IMP: 通过突变表型推断
20077426 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
25925575 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial nucleoid IDA
IDA: 通过直接分析推断
24703694 GOA
part of mitochondrial ribonuclease P complex IDA
IDA: 通过直接分析推断
25925575 GOA
part of mitochondrial ribonuclease P complex IPI
IPI: 通过物理相互作用推断
29880640 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
23042678 GOA
part of tRNA methyltransferase complex IPI
IPI: 通过物理相互作用推断
23042678 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

HSD17B10 蛋白结构

adh_short

adh_short: short chain dehydrogenase (12 - 184)

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

3-hydroxyacyl-CoA dehydrogenase type-2

3-hydroxy-2-methylbutyryl-CoA dehydrogenase

HSD17B10 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
HSD17B10 Q99714 TRAP1 Homo sapiens Q12931 29128334
种属内
HSD17B10 Q99714 TRAP1 Homo sapiens Q12931 29128334
种属内
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3
DSC
29880640
种属内
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 29880640
种属内
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3
GMS
29880640
种属内
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 29880640
种属内
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 33961781
种属内
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 29880640
种属内
HSD17B10 Q99714 TRMT10C Homo sapiens Q7L0Y3 28514442
种属内
HSD17B10 Q99714 EEF2 Homo sapiens P13639 29128334
种属内
HSD17B10 Q99714 EEF2 Homo sapiens P13639 29128334
种属内
HSD17B10 Q99714 APP Homo sapiens P05067
Y2H
9338779
种属内
HSD17B10 Q99714 APP Homo sapiens P05067 9338779
种属内
HSD17B10 Q99714 APP Homo sapiens P05067 9338779
种属内
HSD17B10 Q99714 P05067-PRO_0000000092 Homo sapiens P05067-PRO_0000000092
SPR
32825572
种属间: 跨种属相互作用 种属内: 同种属相互作用

HSD17B10 抗体

目录号 产品名 应用 反应物种
HY-P83598 ERAB Antibody (YA3343) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Hsd10 Mitochondrial Disease

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency

Mhbd Deficiency

2-Methyl-3-Hydroxybutyric Aciduria

Hsd10 Disease

Hsd10 Deficiency

HSD10MD

Hsd17b10 Deficiency

17-Beta-Hydroxysteroid Dehydrogenase X Deficiency

3-Hydroxyacyl-Coa Dehydrogenase Ii Deficiency

Mrxs10

Camr

2m3hba

3-Hydroxy-2-Methylbutyryl-Coa Dehydrogenase Deficiency

3h2mbd Deficiency

Hydroxyacyl-Coa Dehydrogenase Ii Deficiency

Choreoathetosis With Mental Retardation And Abnormal Behavior

Mental Retardation With Choreoathetosis And Abnormal Behavior

17 Beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency

17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency

Hsd10 Disease, Infantile Type

2-Methyl-3-Hydroxybutyric Aciduria, Classic Type

2-Methyl-3-Hydroxybutyric Aciduria, Infantile Type

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Classic Type

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Infantile Type

Hsd10 Deficiency, Classic Type

Hsd10 Deficiency, Infantile Type

Hsd10 Disease, Classic Type

Mhbd Deficiency, Classic Type

Mhbd Deficiency, Infantile Type

Hsd10 Disease, Neonatal Type

2-Methyl-3-Hydroxybutyric Aciduria, Neonatal Type

2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Neonatal Type

Hsd10 Deficiency, Neonatal Type

Mhbd Deficiency, Neonatal Type

Hds10 Mitochondrial Disease

3-Hydroxyacyl-Coa Dehydrogenase Type 2 Deficiency

3-Hydroxyacyl-Coa Dehydrogenase Type-2 Deficiency

3-Hydroxyacyl-Coa Dehydrogenase Type Ii Deficiency

Hydroxyacyl-Coa Dehydrogenase, Type 2, Deficiency

Mental Retardation, X-Linked, Syndromic 10

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type

Hsd10 Disease, Atypical Type

X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome

Mrxs10

Mental Retardation, X-Linked, Syndromic 10

Alpha-Methylacetoacetic Aciduria

Beta-Ketothiolase Deficiency

3-Ketothiolase Deficiency

3-Oxothiolase Deficiency

Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

Alpha-Methylacetoaceticaciduria

Mat Deficiency

T2 Deficiency

2-Methyl-3-Hydroxybutyricacidemia

Beta Ketothiolase Deficiency

Pseudo-Zellweger Syndrome

2-Methyl-3-Hydroxybutyric Acidemia

3-Ktd Deficiency

Peroxisomal Thiolase Deficiency

2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

3-Alpha-Oxothiolase Deficiency

Methylacetoacetyl-Coenzyme A Thiolase Deficiency

Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

Β-Ketothiolase Deficiency

Alpha Methylacetoacetic Aciduria

Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

3KTD

Aciduria, Alpha-Methylacetoacetic

Deficiency Of Acetyl-Coa Acetyltransferase

Deficiency Of Acetyl-Coa Acyltransferase

Hepatic Methionine Adenosyltransferase Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

Hyperinsulinism

Hyperinsulinemia

Metabolic Acidosis
Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Chromosome 3q29 Duplication Syndrome

Chromosome 3q29 Microduplication Syndrome

Trisomy 3q29

Microduplication 3q29 Syndrome

3q29 Microduplication

3q29 Microduplication Syndrome

3q29 Interstitial Microduplication

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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
Rattus norvegicus HSD17B10 RGD RGD:69231
Bos taurus HSD17B10 VGNC VGNC:29969
Macaca mulatta HSD17B10 VGNC VGNC:81419
Felis catus HSD17B10 VGNC VGNC:97457
Mus musculus HSD17B10 MGD MGI:1333871
Canis familiaris HSD17B10 VGNC VGNC:41801
Others HSD17B10 NCBI