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  2. AKAP8L - A-kinase anchoring protein 8 like Gene

AKAP8L - A-kinase anchoring protein 8 like Gene

中文名称:A-激酶锚定蛋白 8 样

种属: Homo sapiens

同用名: HA95; HAP95; NAKAP; NAKAP95

基因 ID: 26993 | 基因类型: protein coding

关于 AKAP8L

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:15,380,050-15,418,988 (from NCBI)

This gene has 39 transcripts (splice variants), 198 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 21.2), testis (RPKM 18.0) and 25 other tissues.

功能概要

启用组蛋白脱乙酰酶结合活性和核纤层蛋白结合活性。参与多个过程,包括有丝分裂染色体浓缩;组蛋白修饰的调节;和调节 mRNA 从细胞核输出。位于染色质;细胞质;和核腔。核糖核蛋白复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables histone deacetylase binding activity and lamin binding activity. Involved in several processes, including mitotic chromosome condensation; regulation of histone modification; and regulation of mRNA export from nucleus. Located in chromatin; cytoplasm; and nuclear lumen. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]

AKAP8L 基因产物(2)

mRNA Protein Name
NM_001291478.2 NP_001278407.1 A-kinase anchor protein 8-like isoform 2
NM_014371.4 NP_055186.3 A-kinase anchor protein 8-like 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 histone deacetylase binding IDA
IDA: 通过直接分析推断
16980585 GOA
enables lamin binding IDA
IDA: 通过直接分析推断
11034899 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11402034 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell cycle G2/M phase transition IMP
IMP: 通过突变表型推断
16980585 GOA
involved in mRNA processing IDA
IDA: 通过直接分析推断
17594903 GOA
involved in mitotic chromosome condensation IMP
IMP: 通过突变表型推断
11034899 GOA
involved in nuclear membrane disassembly IMP
IMP: 通过突变表型推断
11034899 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
11884601 GOA
involved in regulation of mRNA export from nucleus IDA
IDA: 通过直接分析推断
11402034 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
11034899 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11402034 GOA
located in nuclear matrix IDA
IDA: 通过直接分析推断
11034899 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
17594903 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11402034 GOA
part of ribonucleoprotein complex IDA
IDA: 通过直接分析推断
11402034 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

AKAP8L 蛋白结构

AKAP95

AKAP95: A-kinase anchoring protein 95 (AKAP95) (389 - 554)

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  • 646 a.a.
蛋白主名 其他名称

A-kinase anchor protein 8-like

A kinase (PRKA) anchor protein 8-like

AKAP8L 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 AKAP8L Q9ULX6 PCDHB14 Homo sapiens Q9Y5E9
Validated Y2H
32296183
Intra AKAP8L Q9ULX6 HEMK1 Homo sapiens Q9Y5R4
Validated Y2H
32296183
Intra AKAP8L Q9ULX6 SAMD4A Homo sapiens Q9UPU9-3
Validated Y2H
32296183
Intra AKAP8L Q9ULX6 HDAC3 Homo sapiens O15379
Anti Bait CoIP
16980585
Cross AKAP8L Q9ULX6 Prpf40a Mus musculus Q9R1C7
Far-WB
16391387
Cross AKAP8L Q9ULX6 Prpf40a Mus musculus Q9R1C7
Y2H
16391387
Intra AKAP8L Q9ULX6 PTEN Homo sapiens P60484
Anti Bait CoIP
36950384
Intra AKAP8L Q9ULX6 CARHSP1 Homo sapiens Q9Y2V2
Validated Y2H
32296183
Cross AKAP8L Q9ULX6 P29991-PRO_0000308465 Dengue virus type 2 P29991-PRO_0000308465
Y2H
21911577
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
Pelger-Huet Anomaly

PHA

Pelger-Huët Anomaly

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities

Pelger Huet Anomaly

Pelger-Huet Nuclear Anomaly

Greenberg Dysplasia

Hem Dysplasia

Greenberg Skeletal Dysplasia

Hem Skeletal Dysplasia

GRBGD

Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia

Moth-Eaten Skeletal Dysplasia

Chondrodystrophy, Hydropic And Prenatally Lethal Type

Hydrops-Ectopic Calcification-Motheaten Syndrome

Skeletal Dysplasia, Greenberg Type

Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops

Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Hem

Hem/Greenberg Dysplasia

Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a

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
Mus musculus AKAP8L MGD MGI:1860606
Macaca mulatta AKAP8L VGNC VGNC:108460
Bos taurus AKAP8L VGNC VGNC:25790
Rattus norvegicus AKAP8L RGD RGD:1359200
Felis catus AKAP8L VGNC VGNC:69344
Canis familiaris AKAP8L VGNC VGNC:37762