1. Gene
  2. ANKFY1 - ankyrin repeat and FYVE domain containing 1 Gene

ANKFY1 - ankyrin repeat and FYVE domain containing 1 Gene

中文名称:含锚蛋白重复和 FYVE 域 1

种属: Homo sapiens

同用名: ANKHZN; BTBD23; ZFYVE14

基因 ID: 51479 | 基因类型: protein coding

关于 ANKFY1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,163,821-4,263,979 (from NCBI)

This gene has 14 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 13.4), ovary (RPKM 10.3) and 25 other tissues.

功能概要

该基因编码一种细胞质蛋白,该蛋白包含一个卷曲螺旋结构和一个 N 端的 BTB/POZ 结构域,中间部分有锚蛋白重复序列,C 端有一个 FYVE 指基序。该蛋白质属于双锌指蛋白的一个亚组,可能参与囊泡或蛋白质转运。交替剪接导致该基因的多个转录变体。[RefSeq 提供,2012 年 4 月]

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

ANKFY1 基因产物(3)

mRNA Protein Name
NM_001257999.3 NP_001244928.1 rabankyrin-5 isoform 3
NM_001330063.2 NP_001316992.1 rabankyrin-5 isoform 4
NM_016376.5 NP_057460.3 rabankyrin-5 isoform 1
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 phosphatidylinositol phosphate binding IDA
IDA: 通过直接分析推断
15328530 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15328530 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
15328530 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to lysosome transport IMP
IMP: 通过突变表型推断
22284051 GOA
involved in endosomal transport IMP
IMP: 通过突变表型推断
24102721 GOA
involved in endosomal vesicle fusion IDA
IDA: 通过直接分析推断
15328530 GOA
involved in positive regulation of pinocytosis IDA
IDA: 通过直接分析推断
15328530 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
22284051 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome IDA
IDA: 通过直接分析推断
15328530 GOA
located in macropinosome IDA
IDA: 通过直接分析推断
15328530 GOA
located in membrane IDA
IDA: 通过直接分析推断
10940552 GOA
part of retromer complex IDA
IDA: 通过直接分析推断
22284051 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

ANKFY1 蛋白结构

BTB

BTB: BTB/POZ domain (60 - 156)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (293 - 397)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (443 - 520)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (547 - 651)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (729 - 831)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (910 - 994)

FYVE

FYVE: FYVE zinc finger (1108 - 1163)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1169 a.a.
蛋白主名 其他名称

rabankyrin-5

Rabankyrin-5

ANKFY1 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
ANKFY1 Q9P2R3 EHD3 Homo sapiens Q9NZN3
Pull Down
27189942
种属内
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
ITC
22284051
种属内
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Pull Down
27189942
种属内
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Y2H
27189942
种属内
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Confocal
22284051
种属内
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Anti Tag CoIP
22284051
种属内
ANKFY1 Q9P2R3 EHD1 Homo sapiens Q9H4M9
Y2H
22284051
种属内
ANKFY1 Q9P2R3 GABARAPL2 Homo sapiens P60520
Pull Down
20562859
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
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Human Monocytic Ehrlichiosis

Ehrlichiosis Chafeensis

Hme

Human Ehrlichial Infection, Human Monocytic Type

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 ANKFY1 VGNC VGNC:69651
Rattus norvegicus ANKFY1 RGD RGD:1309598
Canis familiaris ANKFY1 VGNC VGNC:37872
Felis catus ANKFY1 VGNC VGNC:59789
Mus musculus ANKFY1 MGD MGI:1337008
Bos taurus ANKFY1 VGNC VGNC:25900
Others ANKFY1 NCBI