1. Gene
  2. SNX5 - sorting nexin 5 Gene

SNX5 - sorting nexin 5 Gene

中文名称:排序 nexin 5

种属: Homo sapiens

基因 ID: 27131 | 基因类型: protein coding

关于 SNX5

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:17,941,600-17,968,794 (from NCBI)

This gene has 19 transcripts (splice variants), 227 orthologues and 15 paralogues. Ubiquitous expression in thyroid (RPKM 76.1), kidney (RPKM 52.7) and 24 other tissues.

功能概要

该基因编码分选连接蛋白家族的一个成员。该家族的成员包含一个 phox (PX) 结构域,它是一个磷酸肌醇结合结构域,并参与细胞内运输。这种蛋白质在内体分选、磷酸肌醇信号通路和巨胞饮作用中起作用。该基因可能在甲状腺乳头状癌的发生中发挥作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2013 年 9 月]

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

SNX5 基因产物(3)

mRNA Protein Name
NM_001282454.2 NP_001269383.1 sorting nexin-5 isoform b
NM_014426.4 NP_055241.1 sorting nexin-5 isoform a
NM_152227.3 NP_689413.1 sorting nexin-5 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 dynactin binding IDA
IDA: 通过直接分析推断
19619496 GOA
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
15561769 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19619496 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in pinocytosis IDA
IDA: 通过直接分析推断
18854019 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
25825816 GOA
involved in positive regulation of insulin receptor signaling pathway IMP
IMP: 通过突变表型推断
25825816 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
17148574 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasmic side of early endosome membrane IDA
IDA: 通过直接分析推断
15561769 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
15561769 GOA
located in macropinocytic cup IDA
IDA: 通过直接分析推断
18854019 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
25825816 GOA
part of retromer complex IDA
IDA: 通过直接分析推断
19619496 GOA
located in tubular endosome IDA
IDA: 通过直接分析推断
19619496 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

SNX5 蛋白结构

PX

PX: PX domain (29 - 168)

Vps5

Vps5: Vps5 C terminal like (180 - 344)

  • 0
  • 100
  • 200
  • 300
  • 404 a.a.
蛋白主名 其他名称

sorting nexin-5

SNX5 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
SNX5 Q9Y5X3 SNX2 Homo sapiens O60749
Anti Tag CoIP
35271311
种属内
SNX5 Q9Y5X3 SNX1 Homo sapiens Q13596
Anti Tag CoIP
35271311
种属内
SNX5 Q9Y5X3 APPBP2 Homo sapiens Q92624
Validated Y2H
25416956
种属内
SNX5 Q9Y5X3 APPBP2 Homo sapiens Q92624
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

SNX5 抗体

目录号 产品名 应用 反应物种
HY-P81967 SNX5 Antibody (YA1712) WB, ICC/IF, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Macaca mulatta SNX5 VGNC VGNC:98451
Rattus norvegicus SNX5 RGD RGD:1310190
Canis familiaris SNX5 VGNC VGNC:46642
Mus musculus SNX5 MGD MGI:1916428
Felis catus SNX5 VGNC VGNC:65558