1. Gene
  2. Hmbs - hydroxymethylbilane synthase Gene

Hmbs - hydroxymethylbilane synthase Gene

种属: Mus musculus

同用名: Ups; PBGD; Uros1

基因 ID: 15288 | 基因类型: protein coding

关于 Hmbs

功能概要

Predicted to enable several functions, including amine binding activity; hydroxymethylbilane synthase activity; and uroporphyrinogen-III synthase activity. Predicted to be involved in heme biosynthetic process; liver development; and response to xenobiotic stimulus. Predicted to be located in several cellular components, including axon; cytosol; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. Predicted to colocalize with condensed chromosome. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Used to study acute intermittent porphyria. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase). [provided by Alliance of Genome Resources, Apr 2022]

Hmbs 基因产物(2)

mRNA Protein Name
NM_001110251.1 NP_001103721.1 porphobilinogen deaminase isoform 2
NM_013551.2 NP_038579.2 porphobilinogen deaminase 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 hydroxymethylbilane synthase activity IDA
IDA: 通过直接分析推断
6930671 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
8563760 MGI
involved in heme B biosynthetic process IMP
IMP: 通过突变表型推断
8563760 MGI
involved in heme O biosynthetic process IMP
IMP: 通过突变表型推断
8563760 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
8563760 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

porphobilinogen deaminase

PBG-D

pre-uroporphyrinogen synthase

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Hmbs NCBI NCBI:3145