1. Gene
  2. ANKRD27 - ankyrin repeat domain 27 Gene

ANKRD27 - ankyrin repeat domain 27 Gene

中文名称:锚蛋白重复结构域 27

种属: Homo sapiens

同用名: VARP; PP12899

基因 ID: 84079 | 基因类型: protein coding

关于 ANKRD27

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,597,006-32,675,180 (from NCBI)

This gene has 9 transcripts (splice variants) and 210 orthologues. Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 8.9) and 25 other tissues.

功能概要

启用胍基核苷酸交换因子活性和小 GTP 酶结合活性。参与 SNARE 复合体装配的内吞循环和负调控。在早期内体到晚期内体运输的上游或内部起作用。位于核内体;溶酶体;和质膜。与嗜酸性粒细胞性食管炎有关。 [由基因组资源联盟提供,2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in endosome; lysosome; and plasma membrane. Implicated in eosinophilic esophagitis. [provided by Alliance of Genome Resources, Apr 2022]

ANKRD27 基因产物(1)

mRNA Protein Name
NM_032139.3 NP_115515.2 ankyrin repeat domain-containing protein 27
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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
16525121 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16525121 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
16525121 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within early endosome to late endosome transport IDA
IDA: 通过直接分析推断
16525121 GOA
involved in endocytic recycling IMP
IMP: 通过突变表型推断
24856514 GOA
involved in negative regulation of SNARE complex assembly IDA
IDA: 通过直接分析推断
24856514 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
16525121 GOA
located in late endosome IDA
IDA: 通过直接分析推断
24856514 GOA
located in lysosome IDA
IDA: 通过直接分析推断
24856514 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24856514 GOA
located in tubular endosome IDA
IDA: 通过直接分析推断
24856514 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

ANKRD27 蛋白结构

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (266 - 364)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (467 - 554)

Ank

Ank: Ankyrin repeat (565 - 595)

Ank

Ank: Ankyrin repeat (743 - 774)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (781 - 871)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1050 a.a.
蛋白主名 其他名称

ankyrin repeat domain-containing protein 27

VPS9 domain-containing protein

ANKRD27 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
ANKRD27 Q96NW4 GOLGA4 Homo sapiens Q13439
Y2H Fragment Pooling
22705394
种属间
ANKRD27 Q96NW4 Kif5a Mus musculus P33175
Anti Bait CoIP
22705394
种属间
ANKRD27 Q96NW4 Kif5a Mus musculus P33175
Anti Tag CoIP
22705394
种属内
ANKRD27 Q96NW4 KIF5A Homo sapiens Q12840
Anti Tag CoIP
22705394
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
Esophagitis

Acute Esophagitis

Parastremmatic Dwarfism

Parastremmatic Dysplasia

PSTD

Dwarfism, Parastremmatic

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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
Felis catus ANKRD27 VGNC VGNC:59804
Canis familiaris ANKRD27 VGNC VGNC:37892
Rattus norvegicus ANKRD27 RGD RGD:1307106
Mus musculus ANKRD27 MGD MGI:2444103
Bos taurus ANKRD27 VGNC VGNC:25919
Macaca mulatta ANKRD27 VGNC VGNC:69693