2. Gene
  3. RUFY1 - RUN and FYVE domain containing 1 Gene

RUFY1 - RUN and FYVE domain containing 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 RUN 和 FYVE 域 1

种属: Homo sapiens

同用名: RABIP4; ZFYVE12

基因 ID: 80230 | 基因类型: protein coding

关于 RUFY1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,550,554-179,610,012 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 205 orthologues and 13 paralogues. Ubiquitous expression in spleen (RPKM 10.3), thyroid (RPKM 9.1) and 25 other tissues.

功能概要

该基因编码的蛋白质包含一个 RUN 结构域和一个 FYVE 型锌指结构域。编码的蛋白质与磷脂酰肌醇 3-磷酸 (PI3P) 结合，并通过与 Rab4、Rab5 和 Rab14 等小 GTP 酶相互作用，在早期内体运输、束缚和融合中发挥作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 12 月]

This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

RUFY1 基因产物(3)

mRNA Protein Name
NM_001040451.3 NP_001035541.1 RUN and FYVE domain-containing protein 1 isoform b
NM_001040452.3 NP_001035542.1 RUN and FYVE domain-containing protein 1 isoform b
NM_025158.5 NP_079434.3 RUN and FYVE domain-containing protein 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 SH2 domain binding IPI
IPI: 通过物理相互作用推断
11877430 GOA
enables SH3 domain binding IPI
IPI: 通过物理相互作用推断
11877430 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21988832 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
20534812 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in early endosome to Golgi transport IDA
IDA: 通过直接分析推断
36282215 GOA
involved in endosomal vesicle fusion IDA
IDA: 通过直接分析推断
20534812 GOA
involved in regulation of endocytosis IPI
IPI: 通过物理相互作用推断
11877430 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in early endosome membrane IDA
IDA: 通过直接分析推断
20534812 GOA
located in endosome IDA
IDA: 通过直接分析推断
11877430 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

RUFY1 蛋白结构

RUN

RUN: RUN domain (147 - 269)

FYVE

FYVE: FYVE zinc finger (638 - 699)

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

RUN and FYVE domain-containing protein 1

FYVE-finger protein EIP1

RUFY1 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
Intra RUFY1 Q96T51 TXNDC17 Homo sapiens Q9BRA2
Y2H Prey Pooling
25416956
Intra RUFY1 Q96T51 TXNDC17 Homo sapiens Q9BRA2
Y2H Array
25416956
Intra RUFY1 Q96T51 PIAS2 Homo sapiens O75928
Pull Down
21988832
Intra RUFY1 Q96T51 UTP25 Homo sapiens Q68CQ4
Y2H Array
29892012
Intra RUFY1 Q96T51 UTP25 Homo sapiens Q68CQ4
Y2H Array
31515488
Intra RUFY1 Q96T51 UTP25 Homo sapiens Q68CQ4
Validated Y2H
25416956
Intra RUFY1 Q96T51 RAB3IP Homo sapiens Q96QF0
Y2H Prey Pooling
25416956
Intra RUFY1 Q96T51 RAB3IP Homo sapiens Q96QF0
Validated Y2H
25416956
Intra RUFY1 Q96T51 RAB3IP Homo sapiens Q96QF0
Y2H Array
25416956
Intra RUFY1 Q96T51 RAB39B Homo sapiens Q96DA2
Y2H Array
25416956
Intra RUFY1 Q96T51 RAB39B Homo sapiens Q96DA2
Y2H Array
31515488
Intra RUFY1 Q96T51 RAB39B Homo sapiens Q96DA2
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Hereditary Spastic Paraplegia 72

Autosomal Spastic Paraplegia Type 72

Spg72

Spastic Paraplegia 72, Autosomal Recessive
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

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-RS12344 RUFY1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RUFY1 VGNC VGNC:110435
Felis catus RUFY1 VGNC VGNC:64818
Bos taurus RUFY1 VGNC VGNC:106908
Canis familiaris RUFY1 VGNC VGNC:45803
Mus musculus RUFY1 MGD MGI:2429762
Rattus norvegicus RUFY1 RGD RGD:1305099
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