2. Gene
  3. HSD17B7 - hydroxysteroid 17-beta dehydrogenase 7 Gene

HSD17B7 - hydroxysteroid 17-beta dehydrogenase 7 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 7

种属: Homo sapiens

同用名: PRAP; SDR37C1

基因 ID: 51478 | 基因类型: protein coding

关于 HSD17B7

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:162,790,702-162,812,823 (from NCBI)

This gene has 10 transcripts (splice variants), 247 orthologues and 25 paralogues. Ubiquitous expression in adrenal (RPKM 6.0), lymph node (RPKM 4.5) and 25 other tissues.

功能概要

HSD17B7 编码一种酶，该酶在性类固醇的生物合成中作为 17-β-羟基类固醇脱氢酶 (EC 1.1.1.62) ，在胆固醇的生物合成中作为 3-酮类固醇还原酶 (EC 1.1.1.270) 发挥作用 (Marijanovic 等人。 , 2003 [PubMed 12829805]) .[OMIM 提供，2010 年 5 月]

HSD17B7 encodes an Enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex Steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of Cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]

HSD17B7 基因产物(3)

mRNA Protein Name
NM_001304512.2 NP_001291441.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 2
NM_001304513.2 NP_001291442.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 3
NM_016371.4 NP_057455.1 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 1
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 3-keto sterol reductase activity IDA
IDA: 通过直接分析推断
12829805 GOA
enables 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IDA
IDA: 通过直接分析推断
12732193 GOA
enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IDA
IDA: 通过直接分析推断
12732193 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in androgen metabolic process IDA
IDA: 通过直接分析推断
12732193 GOA
involved in cholesterol biosynthetic process IDA
IDA: 通过直接分析推断
12829805 GOA
involved in estrogen biosynthetic process IDA
IDA: 通过直接分析推断
12732193 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
12829805 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

HSD17B7 蛋白结构

adh_short

adh_short: short chain dehydrogenase (3 - 155)

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

3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7

17 beta-hydroxysteroid dehydrogenase type VII

关联疾病

疾病名称 别名
Ck Syndrome

CKS

X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome

Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome

Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs

Child Nevus

Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects

Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects

Ichthyosis, Child Syndrome

Child Syndrome Ichthyosis

CHILD
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06399 HSD17B7 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-W749520 Zymosterone / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus HSD17B7 VGNC VGNC:67660
Rattus norvegicus HSD17B7 RGD RGD:2837
Mus musculus HSD17B7 MGD MGI:1330808
Bos taurus HSD17B7 VGNC VGNC:29976
Canis familiaris HSD17B7 VGNC VGNC:41809
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