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  2. HSD17B8 - hydroxysteroid 17-beta dehydrogenase 8 Gene

HSD17B8 - hydroxysteroid 17-beta dehydrogenase 8 Gene

中文名称:羟基类固醇 17-β 脱氢酶 8

种属: Homo sapiens

同用名: KE6; FABG; HKE6; FABGL; RING2; H2-KE6; SDR30C1; D6S2245E; dJ1033B10.9

基因 ID: 7923 | 基因类型: protein coding

关于 HSD17B8

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:33,204,655-33,206,831 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 187 orthologues and 25 paralogues. Ubiquitous expression in liver (RPKM 17.4), kidney (RPKM 16.9) and 25 other tissues.

功能概要

在小鼠中,Ke6 蛋白是一种 17-β-羟基类固醇脱氢酶,可以调节具有生物活性的雌激素和雄激素的浓度。它优先是一种氧化酶并使雌二醇、睾酮和二氢睾酮失活。然而,该酶具有一定的还原活性,可以从雌酮合成雌二醇。该基因编码的蛋白质与 Ke6 相似,是短链脱氢酶超家族的成员。已检测到该基因的可变剪接转录本,但尚未确定该变体的全长性质。[RefSeq 提供,2008 年 7 月]

In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative Enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the Enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]

HSD17B8 基因产物(1)

mRNA Protein Name
NM_014234.5 NP_055049.1 (3R)-3-hydroxyacyl-CoA dehydrogenase
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 (3R)-hydroxyacyl-CoA dehydrogenase (NAD+) activity IDA
IDA: 通过直接分析推断
19571038 GOA
enables (3R)-hydroxyacyl-CoA dehydrogenase (NAD+) activity IMP
IMP: 通过突变表型推断
25203508 GOA
enables NADH binding IDA
IDA: 通过直接分析推断
25203508 GOA
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IDA
IDA: 通过直接分析推断
17978863 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19571038 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in estrogen biosynthetic process IDA
IDA: 通过直接分析推断
17978863 GOA
involved in fatty acid biosynthetic process IMP
IMP: 通过突变表型推断
25203508 GOA
involved in protein heterotetramerization IDA
IDA: 通过直接分析推断
25203508 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
19571038 GOA
part of oxidoreductase complex IDA
IDA: 通过直接分析推断
19571038 GOA
part of oxidoreductase complex IMP
IMP: 通过突变表型推断
25203508 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

HSD17B8 蛋白结构

adh_short

adh_short: short chain dehydrogenase (14 - 187)

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

(3R)-3-hydroxyacyl-CoA dehydrogenase

17-beta-HSD 8

关联疾病

疾病名称 别名
Arthrogryposis, Distal, Type 1c

DA1C

Distal Arthrogryposis Type 1c

Arthrogryposis, Distal, 1c

Multidrug-Resistant Tuberculosis

Tuberculosis, Multidrug-Resistant

Tuberculosis Multidrug-Resistant

Advanced Sleep Phase Syndrome, Familial, 3

Advanced Sleep Phase Syndrome 3

FASPS3

Familial Advanced Sleep Phase Syndrome 3

Sleep Phase Syndrome, Advanced, Familial, Type 3

Granulomatosis With Polyangiitis

GPA

Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis

Wg

Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

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

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 HSD17B8 VGNC VGNC:73466
Mus musculus HSD17B8 MGD MGI:95911
Bos taurus HSD17B8 VGNC VGNC:29977
Canis familiaris HSD17B8 VGNC VGNC:41810
Felis catus HSD17B8 VGNC VGNC:108364
Rattus norvegicus HSD17B8 RGD RGD:1303158