1. Gene
  2. Uros - uroporphyrinogen III synthase Gene

Uros - uroporphyrinogen III synthase Gene

种属: Mus musculus

同用名: Uros3; UROIIIS

基因 ID: 22276 | 基因类型: protein coding

关于 Uros

功能概要

The protein encoded by this gene is the fourth enzyme in the heme biosynthesis pathway. It converts hydroxymethylbilane to uroporphyrinogen III, a cyclic tetrapyrrole. This enzyme is defective in the autosomal recessive disorder congenital erythropoietic porphyria. Alternate promoter usage controls cell type-specific expression, including erythroid cell-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

Uros 基因产物(5)

mRNA Protein Name
NM_001302085.1 NP_001289014.1 uroporphyrinogen-III synthase isoform 1
NM_001302086.1 NP_001289015.1 uroporphyrinogen-III synthase isoform 2
NM_001302087.1 NP_001289016.1 uroporphyrinogen-III synthase isoform 1
NM_001360164.1 NP_001347093.1 uroporphyrinogen-III synthase isoform 1
NM_009479.3 NP_033505.1 uroporphyrinogen-III synthase 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 uroporphyrinogen-III synthase activity IDA
IDA: 通过直接分析推断
7607680 MGI
enables uroporphyrinogen-III synthase activity IMP
IMP: 通过突变表型推断
16532394 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in heme A biosynthetic process IMP
IMP: 通过突变表型推断
16532394 MGI
involved in heme B biosynthetic process IMP
IMP: 通过突变表型推断
16532394 MGI
involved in heme O biosynthetic process IMP
IMP: 通过突变表型推断
16532394 MGI
acts upstream of or within porphyrin-containing compound biosynthetic process IDA
IDA: 通过直接分析推断
7607680 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cytosol IDA
IDA: 通过直接分析推断
24145442 MGI
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
蛋白主名 其他名称

uroporphyrinogen-III synthase

URO-synthase

hydroxymethylbilane hydrolyase (cyclizing)

uroporphyrinogen-III cosynthase

uroporphyrinogen-III cosynthetase

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Uros NCBI NCBI:7390