1. Gene
  2. Pde6a - phosphodiesterase 6A, cGMP-specific, rod, alpha Gene

Pde6a - phosphodiesterase 6A, cGMP-specific, rod, alpha Gene

中文名称:磷酸二酯酶 6A,cGMP 特异性,棒状, α

种属: Mus musculus

同用名: Pdea; nmf282

基因 ID: 225600 | 基因类型: protein coding

关于 Pde6a

Chromosome 18: 61,353,387-61,422,995 forward strand.GRCm39:CM001011.3

This gene has 2 transcripts (splice variants), 100 orthologues, 20 paralogues and is associated with 19 phenotypes. Low expression observed in reference dataset.

功能概要

预计该基因编码的蛋白可实现 3',5'-环状核苷酸磷酸二酯酶活性。在相机型眼睛中作用于感光细胞维护和视网膜发育的上游或内部。预测位于质膜中。预测在光感受器外段膜中具有活性。在视网膜外核层表达。用于研究视网膜色素变性。该基因的人类直系同源物与色素性视网膜炎 43 相关。与人类 PDE6A(磷酸二酯酶 6A)直系同源。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable 3',5'-cyclic-nucleotide phosphodiesterase activity. Acts upstream of or within photoreceptor cell maintenance and retina development in camera-type eye. Predicted to be located in plasma membrane. Predicted to be active in photoreceptor outer segment membrane. Is expressed in retina outer nuclear layer. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in retinitis pigmentosa 43. Orthologous to human PDE6A (phosphodiesterase 6A). [provided by Alliance of Genome Resources, Apr 2022]

Pde6a 基因产物(1)

mRNA Protein Name
NM_146086.3 NP_666198.1 rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within photoreceptor cell maintenance IMP
IMP: 通过突变表型推断
22183357 MGI
acts upstream of or within retina development in camera-type eye IMP
IMP: 通过突变表型推断
21052544 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

Pde6a 蛋白结构

GAF

GAF: smart00065 (66 - 231)

GAF

GAF: smart00065 (253 - 440)

PDEase_I

PDEase_I: pfam00233 (557 - 801)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 860 a.a.
蛋白主名 其他名称

rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha

GMP-PDE alpha

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Pde6a NCBI NCBI:5145