2. Gene
  3. HSD17B12 - hydroxysteroid 17-beta dehydrogenase 12 Gene

HSD17B12 - hydroxysteroid 17-beta dehydrogenase 12 Gene

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

中文名称：羟基类固醇 17-β 脱氢酶 12

种属: Homo sapiens

同用名: KAR; SDR12C1

基因 ID: 51144 | 基因类型: protein coding

关于 HSD17B12

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:43,556,721-43,856,615 (from NCBI)

This gene has 14 transcripts (splice variants), 281 orthologues and 25 paralogues. Ubiquitous expression in brain (RPKM 34.2), kidney (RPKM 34.0) and 25 other tissues.

功能概要

该基因编码一种非常重要的 17beta-羟基类固醇脱氢酶 (17beta-HSD) ，可将卵巢组织中的雌酮转化为雌二醇。这种酶也参与脂肪酸的延长。[RefSeq 提供，2011 年 10 月]

This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This Enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]

HSD17B12 基因产物(1)

mRNA Protein Name
NM_016142.3 NP_057226.1 very-long-chain 3-oxoacyl-CoA reductase
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 protein binding IPI
IPI: 通过物理相互作用推断
20937905 GOA
enables very-long-chain 3-oxoacyl-CoA reductase activity EXP
EXP: 通过实验结果推断
12482854 GOA
enables very-long-chain 3-oxoacyl-CoA reductase activity IDA
IDA: 通过直接分析推断
12482854 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fatty acid elongation, saturated fatty acid IDA
IDA: 通过直接分析推断
25003994 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of fatty acid elongase complex IDA
IDA: 通过直接分析推断
25003994 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

HSD17B12 蛋白结构

adh_short

adh_short: short chain dehydrogenase (52 - 220)

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

very-long-chain 3-oxoacyl-CoA reductase

17-beta-HSD 12

HSD17B12 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
HSD17B12 Q53GQ0 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
种属内
HSD17B12 Q53GQ0 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
种属内
HSD17B12 Q53GQ0 FGFR3 Homo sapiens P22607
Y2H Array
32814053
种属内
HSD17B12 Q53GQ0 HRAS Homo sapiens P01112
Y2H Array
32814053
种属内
HSD17B12 Q53GQ0 HRAS Homo sapiens P01112
Validated Y2H
32814053
种属内
HSD17B12 Q53GQ0 HRAS Homo sapiens P01112
Y2H Pooling
32814053
种属内
HSD17B12 Q53GQ0 GSN Homo sapiens P06396
Y2H Pooling
32814053
种属内
HSD17B12 Q53GQ0 GSN Homo sapiens P06396
Validated Y2H
32814053
种属内
HSD17B12 Q53GQ0 GSN Homo sapiens P06396
Y2H Array
32814053
种属内
HSD17B12 Q53GQ0 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
25416956
种属内
HSD17B12 Q53GQ0 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
25416956
种属内
HSD17B12 Q53GQ0 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
种属内
HSD17B12 Q53GQ0 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
种属内
HSD17B12 Q53GQ0 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
种属间
HSD17B12 Q53GQ0 Q9WMX2-PRO_0000037541 Hepatitis C virus Q9WMX2-PRO_0000037541
Pull Down
24169621
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
Cervical Neuroblastoma
Qualitative Platelet Defect

Qualitative Platelet Defects

Qualitative Platelet Deficiency

Thrombocytopathy

Platelet Defect

Platelet Disorder

Thrombopathy

Platelet Granule Defect

Thrombocytasthenia

Thromboasthenia

Dystrophic Thrombocytopathy

Haemorrhagic Thrombasthenia

Granulopenic Thrombocytopathy
Extracranial Neuroblastoma
Congenital Central Hypoventilation Syndrome

Cchs

Haddad Syndrome

Ondine Curse

Ondine Syndrome

Congenital Central Hypoventilation

Congenital Central Alveolar Hypoventilation Syndrome

Congenital Failure Of Autonomic Control

Ondine'S Curse

Primary Alveolar Hypoventilation

Ondine-Hirschsprung Disease

Central Congenital Hypoventilation Syndrome

Congenital Ondine Curse

Idiopathic Congenital Central Alveolar Hypoventilation

Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

Ondine-Hirschsprung Syndrome
Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant
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-RS06392 HSD17B12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta HSD17B12 VGNC VGNC:73416
Bos taurus HSD17B12 VGNC VGNC:54883
Felis catus HSD17B12 VGNC VGNC:62847
Rattus norvegicus HSD17B12 RGD RGD:708367
Mus musculus HSD17B12 MGD MGI:1926967
Canis familiaris HSD17B12 VGNC VGNC:41802
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