1. Gene
  2. BCO1 - beta-carotene oxygenase 1 Gene

BCO1 - beta-carotene oxygenase 1 Gene

中文名称:β-胡萝卜素加氧酶 1

种属: Homo sapiens

同用名: BCO; BCDO; BCMO; BCDO1; BCMO1

基因 ID: 53630 | 基因类型: protein coding

关于 BCO1

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,238,689-81,291,142 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 7.4), duodenum (RPKM 3.9) and 4 other tissues.

功能概要

维生素 A 的代谢对于视力、胚胎发育、细胞分化以及细胞膜和皮肤保护等重要过程非常重要。由该基因编码的蛋白质是 β-胡萝卜素代谢为维生素 A 的关键酶。它催化 β,β-胡萝卜素氧化裂解成两个视网膜分子。[RefSeq 提供,2008 年 7 月]

Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]

BCO1 基因产物(1)

mRNA Protein Name
NM_017429.3 NP_059125.2 beta,beta-carotene 15,15'-dioxygenase
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-carotene 15,15'-dioxygenase activity IDA
IDA: 通过直接分析推断
11401432 GOA
enables beta-carotene 15,15'-dioxygenase activity IMP
IMP: 通过突变表型推断
17951468 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carotene catabolic process IDA
IDA: 通过直接分析推断
11401432 GOA
involved in carotene catabolic process IMP
IMP: 通过突变表型推断
17951468 GOA
involved in retinal metabolic process IDA
IDA: 通过直接分析推断
11401432 GOA
involved in retinal metabolic process IMP
IMP: 通过突变表型推断
17951468 GOA
involved in retinoid metabolic process IDA
IDA: 通过直接分析推断
11401432 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

BCO1 蛋白结构

RPE65

RPE65: Retinal pigment epithelial membrane protein (5 - 519)

  • 0
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  • 500
  • 547 a.a.
蛋白主名 其他名称

beta,beta-carotene 15,15'-dioxygenase

beta,beta-carotene 15,15'-monooxygenase

关联疾病

疾病名称 别名
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant

HCVAD

Hypercarotenemia And Hypovitaminosis A

Vitamin A Deficiency

Hereditary Hypercarotenemia And Vitamin A Deficiency
Carotenemia

Hypercarotinemia

Hypervitaminosis A

Hypervitaminosis A, Susceptibility To

Hyperalimentation Of Vitamin A

Xerophthalmia

Conjunctival Xerosis

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
Canis familiaris BCO1 VGNC VGNC:38417
Felis catus BCO1 VGNC VGNC:60091
Macaca mulatta BCO1 VGNC VGNC:99488
Rattus norvegicus BCO1 RGD RGD:70981
Mus musculus BCO1 MGD MGI:1926923
Bos taurus BCO1 VGNC VGNC:26453