1. Gene
  2. KLHL22 - kelch like family member 22 Gene

KLHL22 - kelch like family member 22 Gene

中文名称:kelch 样家族成员 22

种属: Homo sapiens

同用名: KELCHL

基因 ID: 84861 | 基因类型: protein coding

关于 KLHL22

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,441,519-20,495,795 (from NCBI)

This gene has 12 transcripts (splice variants), 194 orthologues and 54 paralogues. Ubiquitous expression in brain (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues.

功能概要

启用 14-3-3 蛋白结合活性。参与多个过程,包括细胞蛋白质代谢过程;细胞对亮氨酸的反应;和有丝分裂纺锤体组装检查点信号。位于几种细胞成分中,包括细胞质;细胞间桥;和微管细胞骨架。 Cul3-RING 泛素连接酶复合物的一部分。与溶酶体和细胞核共定位。 [由基因组资源联盟提供,2022 年 4 月]

Enables 14-3-3 protein binding activity. Involved in several processes, including cellular protein metabolic process; cellular response to leucine; and mitotic spindle assembly checkpoint signaling. Located in several cellular components, including cytosol; intercellular bridge; and microtubule Cytoskeleton. Part of Cul3-RING ubiquitin Ligase complex. Colocalizes with lysosome and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

KLHL22 基因产物(1)

mRNA Protein Name
NM_032775.4 NP_116164.2 kelch-like protein 22
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 14-3-3 protein binding IPI
IPI: 通过物理相互作用推断
29769719 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23455478 GOA
enables ubiquitin-like ligase-substrate adaptor activity IDA
IDA: 通过直接分析推断
29769719 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell division IMP
IMP: 通过突变表型推断
19995937 GOA
involved in cellular response to L-leucine IMP
IMP: 通过突变表型推断
29769719 GOA
involved in cellular response to amino acid stimulus IDA
IDA: 通过直接分析推断
29769719 GOA
involved in mitotic sister chromatid segregation IMP
IMP: 通过突变表型推断
23455478 GOA
involved in mitotic spindle assembly checkpoint signaling IMP
IMP: 通过突变表型推断
23455478 GOA
involved in negative regulation of autophagy IMP
IMP: 通过突变表型推断
29769719 GOA
involved in negative regulation of type I interferon production IDA
IDA: 通过直接分析推断
36394357 GOA
involved in positive regulation of T cell activation IDA
IDA: 通过直接分析推断
33109719 GOA
involved in positive regulation of T cell mediated immune response to tumor cell IDA
IDA: 通过直接分析推断
33109719 GOA
involved in positive regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
29769719 GOA
involved in positive regulation of TORC1 signaling IMP
IMP: 通过突变表型推断
29769719 GOA
involved in positive regulation of cell growth IMP
IMP: 通过突变表型推断
29769719 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
29769719 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
29769719 GOA
involved in protein monoubiquitination IDA
IDA: 通过直接分析推断
23455478 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
36394357 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul3-RING ubiquitin ligase complex IDA
IDA: 通过直接分析推断
19995937 GOA
located in centrosome IDA
IDA: 通过直接分析推断
23455478 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
23455478 GOA
located in cytosol IDA
IDA: 通过直接分析推断
29769719 GOA
colocalizes with lysosome IDA
IDA: 通过直接分析推断
29769719 GOA
located in mitotic spindle IDA
IDA: 通过直接分析推断
23455478 GOA
colocalizes with nucleus IDA
IDA: 通过直接分析推断
29769719 GOA
located in polar microtubule IDA
IDA: 通过直接分析推断
23455478 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

KLHL22 蛋白结构

BTB

BTB: BTB/POZ domain (42 - 143)

BACK

BACK: BTB And C-terminal Kelch (153 - 256)

Kelch_6

Kelch_6: Kelch motif (341 - 385)

Kelch_1

Kelch_1: Kelch motif (393 - 432)

Kelch_3

Kelch_3: Galactose oxidase, central domain (446 - 490)

Kelch_1

Kelch_1: Kelch motif (538 - 578)

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

kelch-like protein 22

kelch-like 22

KLHL22 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
KLHL22 Q53GT1 TARDBP Homo sapiens Q13148 37788672
种属内
KLHL22 Q53GT1 NUDCD3 Homo sapiens Q8IVD9 33961781
种属内
KLHL22 Q53GT1 NUDCD3 Homo sapiens Q8IVD9 28514442
种属内
KLHL22 Q53GT1 NUDCD3 Homo sapiens Q8IVD9 25036637
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
Mixed Fibrolamellar Hepatocellular Carcinoma
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

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
Rattus norvegicus KLHL22 RGD RGD:1306288
Bos taurus KLHL22 VGNC VGNC:30651
Felis catus KLHL22 VGNC VGNC:82548
Mus musculus KLHL22 MGD MGI:1337995
Canis familiaris KLHL22 VGNC VGNC:42457