1. Gene
  2. IDI1 - isopentenyl-diphosphate delta isomerase 1 Gene

IDI1 - isopentenyl-diphosphate delta isomerase 1 Gene

中文名称:异戊烯二磷酸δ异构酶 1

种属: Homo sapiens

同用名: IPP1; IPPI1

基因 ID: 3422 | 基因类型: protein coding

关于 IDI1

Cytogenetic location: 10p15.3 Genomic coordinates (GRCh38): 10:1,039,152-1,056,704 (from NCBI)

This gene has 6 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 23.9), brain (RPKM 23.0) and 25 other tissues.

功能概要

IDI1 编码一种过氧化物酶体定位酶,该酶催化异戊烯基二磷酸 (IPP) 与其高度亲电异构体二甲基烯丙基二磷酸 (DMAPP) 的相互转化,这些异构体是导致合成法尼基二磷酸和最终胆固醇的连续反应的底物.在 Zellweger 综合征和新生儿肾上腺脑白质营养不良等过氧化物酶体缺乏症中,IPP 异构酶活性降低。[RefSeq 提供,2008 年 7 月]

IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, Cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008]

IDI1 基因产物(4)

mRNA Protein Name
NM_001317955.2 NP_001304884.1 isopentenyl-diphosphate Delta-isomerase 1 isoform b
NM_001317956.2 NP_001304885.1 isopentenyl-diphosphate Delta-isomerase 1 isoform b
NM_001317957.2 NP_001304886.1 isopentenyl-diphosphate Delta-isomerase 1 isoform c
NM_004508.4 NP_004499.2 isopentenyl-diphosphate Delta-isomerase 1 isoform a
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 isopentenyl-diphosphate delta-isomerase activity IDA
IDA: 通过直接分析推断
8806705 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
17250851 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
17250851 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 isoprenoid biosynthetic process IDA
IDA: 通过直接分析推断
8806705 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in peroxisome IDA
IDA: 通过直接分析推断
17180682 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

IDI1 蛋白结构

NUDIX

NUDIX: NUDIX domain (108 - 256)

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

isopentenyl-diphosphate Delta-isomerase 1

IPP isomerase 1

关联疾病

疾病名称 别名
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Neonatal Adrenoleukodystrophy

Nald

Adrenoleukodystrophy Autosomal Neonatal Form

Intermediate Pbd-Zsd

Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Adrenoleukodystrophy, Autosomal, Neonatal Form

Adrenoleukodystrophy Neonatal

Adrenoleukodystrophy, Neonatal

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 IDI1 VGNC VGNC:73559
Rattus norvegicus IDI1 RGD RGD:621835
Mus musculus IDI1 MGD MGI:2442264