2. Gene
  3. Nphp1 - nephronophthisis 1 (juvenile) homolog (human) Gene

Nphp1 - nephronophthisis 1 (juvenile) homolog (human) Gene

  • 基因
  • 蛋白
  • 相关产品
  • 直系同源

种属: Mus musculus

基因 ID: 53885 | 基因类型: protein coding

关于 Nphp1

功能概要

Involved in several processes, including photoreceptor cell outer segment organization; retina development in camera-type eye; and spermatid differentiation. Located in ciliary base; cytoplasm; and photoreceptor distal connecting cilium. Is expressed in several structures, including central nervous system; genitourinary system; gut; respiratory system; and white fat. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1). [provided by Alliance of Genome Resources, Apr 2022]

Nphp1 基因产物(10)

mRNA Protein Name
NM_001291012.1 NP_001277941.1 nephrocystin-1 isoform b
NM_001291013.1 NP_001277942.1 nephrocystin-1 isoform c
NM_001355429.1 NP_001342358.1 nephrocystin-1 isoform d
NM_001369236.1 NP_001356165.1 nephrocystin-1 isoform e
NM_016902.4 NP_058598.1 nephrocystin-1 isoform a
NM_001291012.1 NP_001277941.1 nephrocystin-1 isoform b
NM_001291013.1 NP_001277942.1 nephrocystin-1 isoform c
NM_001355429.1 NP_001342358.1 nephrocystin-1 isoform d
NM_001369236.1 NP_001356165.1 nephrocystin-1 isoform e
NM_016902.4 NP_058598.1 nephrocystin-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 protein binding IPI
IPI: 通过物理相互作用推断
10739664 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell projection organization IMP
IMP: 通过突变表型推断
19208653 MGI
involved in photoreceptor cell outer segment organization IGI
IGI: 通过遗传相互作用推断
20081859 MGI
involved in protein localization IGI
IGI: 通过遗传相互作用推断
20081859 MGI
involved in retina development in camera-type eye IMP
IMP: 通过突变表型推断
19208653 MGI
involved in spermatid differentiation IMP
IMP: 通过突变表型推断
18684731 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in ciliary base IDA
IDA: 通过直接分析推断
20169535 MGI
located in ciliary transition zone IDA
IDA: 通过直接分析推断
20169535 MGI
located in cilium IDA
IDA: 通过直接分析推断
20172860 MGI
located in cytoplasm IDA
IDA: 通过直接分析推断
21565611 MGI
located in photoreceptor connecting cilium IDA
IDA: 通过直接分析推断
16885411 MGI
located in photoreceptor distal connecting cilium IDA
IDA: 通过直接分析推断
29899041 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

nephrocystin-1

Nphp1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
Nphp1 Q9QY53 Nphp4 Mus musculus P59240
Anti Tag CoIP
21565611
种属内
Nphp1 Q9QY53 Bcar1 Mus musculus Q61140
CoIP
10739664
种属间: 跨种属相互作用 种属内: 同种属相互作用

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09483 NPHP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Nphp1 NCBI NCBI:4867
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