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  2. ANKLE1 - ankyrin repeat and LEM domain containing 1 Gene

ANKLE1 - ankyrin repeat and LEM domain containing 1 Gene

中文名称:含锚蛋白重复和 LEM 域 1

种属: Homo sapiens

同用名: LEM3; LEMD6; ANKRD41

基因 ID: 126549 | 基因类型: protein coding

关于 ANKLE1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,281,901-17,287,646 (from NCBI)

This gene has 11 transcripts (splice variants), 181 orthologues and 2 paralogues. Biased expression in bone marrow (RPKM 8.2), lymph node (RPKM 1.3) and 2 other tissues.

功能概要

启用核酸内切酶活性。参与对 DNA 损伤刺激和蛋白质从细胞核输出的反应的正向调节。位于细胞质和核质中。与细胞核共定位。 [由基因组资源联盟提供,2022 年 4 月]

Enables Endonuclease activity. Involved in positive regulation of response to DNA damage stimulus and protein export from nucleus. Located in cytosol and nucleoplasm. Colocalizes with nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ANKLE1 基因产物(4)

mRNA Protein Name
NM_001278443.2 NP_001265372.2 ankyrin repeat and LEM domain-containing protein 1 isoform 2
NM_001278444.2 NP_001265373.2 ankyrin repeat and LEM domain-containing protein 1 isoform 3
NM_001278445.2 NP_001265374.2 ankyrin repeat and LEM domain-containing protein 1 isoform 4
NM_152363.6 NP_689576.6 ankyrin repeat and LEM domain-containing protein 1 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 endonuclease activity IDA
IDA: 通过直接分析推断
22399800 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22399800 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
22399800 GOA
involved in protein export from nucleus IDA
IDA: 通过直接分析推断
22399800 GOA
involved in protein export from nucleus IMP
IMP: 通过突变表型推断
22399800 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
22399800 GOA
colocalizes with nucleus IDA
IDA: 通过直接分析推断
22399800 GOA
colocalizes with nucleus IMP
IMP: 通过突变表型推断
27245214 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

ANKLE1 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (14 - 106)

LEM

LEM: LEM domain (357 - 392)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 615 a.a.
蛋白主名 其他名称

ankyrin repeat and LEM domain-containing protein 1

LEM domain containing 6

关联疾病

疾病名称 别名
Legionellosis

Legionella Infection

Pontiac Fever

Legionnaires' Disease

Infection By Legionella Pneumophilia

Legionella Pneumophila Infection

Legionnaire Disease

Legionnaires' Disease

Legionnaires Disease

Legionnaire Disease, Susceptibility To

Legionella

Legionella Pneumonia

Infection By Legionella Pneumophilia

Legionnaire'S Disease

Legionellosis

Legionaire Disease, Susceptibility To

Legionnaires Pneumonia

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
Bos taurus ANKLE1 VGNC VGNC:25903
Mus musculus ANKLE1 MGD MGI:1918775
Canis familiaris ANKLE1 VGNC VGNC:37875
Macaca mulatta ANKLE1 VGNC VGNC:69715
Rattus norvegicus ANKLE1 RGD RGD:1308184
Felis catus ANKLE1 VGNC VGNC:59791