1. Gene
  2. AKAP9 - A-kinase anchoring protein 9 Gene

AKAP9 - A-kinase anchoring protein 9 Gene

中文名称:A-激酶锚定蛋白 9

种属: Homo sapiens

同用名: LQT11; PRKA9; AKAP-9; CG-NAP; YOTIAO; AKAP350; AKAP450; PPP1R45; HYPERION; MU-RMS-40.16A

基因 ID: 10142 | 基因类型: protein coding

关于 AKAP9

Cytogenetic location: 7q21.2 Genomic coordinates (GRCh38): 7:91,940,862-92,110,673 (from NCBI)

This gene has 32 transcripts (splice variants), 176 orthologues, 1 paralogue and is associated with 101 phenotypes. Ubiquitous expression in colon (RPKM 12.3), small intestine (RPKM 8.8) and 25 other tissues.

功能概要

激酶锚定蛋白 (AKAP) 是一组结构多样的蛋白质,它们具有与蛋白激酶 A (PKA) 的调节亚基结合并将全酶限制在细胞内离散位置的共同功能。该基因编码 AKAP 家族的一个成员。该基因的交替剪接导致至少两种同种型定位于中心体和高尔基体,并与来自多个信号转导途径的众多信号蛋白相互作用。这些信号蛋白包括 II 型蛋白激酶 A、丝氨酸/苏氨酸激酶蛋白激酶 N、蛋白磷酸酶 1、蛋白磷酸酶 2a、蛋白激酶 C-epsilon 和磷酸二酯酶 4D3。[RefSeq 提供,2008 年 8 月]

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein Phosphatase 1, protein Phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]

AKAP9 基因产物(3)

mRNA Protein Name
NM_001379277.1 NP_001366206.1 A-kinase anchor protein 9 isoform 4
NM_005751.5 NP_005742.4 A-kinase anchor protein 9 isoform 2
NM_147185.3 NP_671714.1 A-kinase anchor protein 9 isoform 3
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 molecular adaptor activity IDA
IDA: 通过直接分析推断
11799244 GOA
enables potassium channel regulator activity IMP
IMP: 通过突变表型推断
16002409 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12163479 GOA
enables protein kinase A regulatory subunit binding IDA
IDA: 通过直接分析推断
21502359 GOA
enables protein kinase A regulatory subunit binding IPI
IPI: 通过物理相互作用推断
17911601 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
11799244 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
12163479 GOA
located in Golgi stack IDA
IDA: 通过直接分析推断
19242490 GOA
located in centrosome IDA
IDA: 通过直接分析推断
20096683 GOA
located in cis-Golgi network IDA
IDA: 通过直接分析推断
24648492 GOA
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
10390370 GOA
is active in glutamatergic synapse IMP
IMP: 通过突变表型推断
10390370 GOA
part of potassium channel complex IDA
IDA: 通过直接分析推断
19218243 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
11799244 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

AKAP9 蛋白结构

PACT_coil_coil

PACT_coil_coil: Pericentrin-AKAP-450 domain of centrosomal targeting protein (3704 - 3786)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 3907 a.a.
蛋白主名 其他名称

A-kinase anchor protein 9

A kinase (PRKA) anchor protein (yotiao) 9

AKAP9 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 AKAP9 Q99996 BIRC6 Homo sapiens Q9NR09
Anti Tag CoIP
33961781
Cross AKAP9 Q99996 P0DTD1-PRO_0000449630 SARS-CoV-2 P0DTD1-PRO_0000449630
Y2H Array
36217030
Intra AKAP9 Q99996 GOLGA2 Homo sapiens Q08379
Anti Bait CoIP
19242490
Intra AKAP9 Q99996 KDM1A Homo sapiens O60341
Y2H
23455924
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
Long Qt Syndrome 11

LQT11

Long Qt Syndrome-11

Qt Syndrome, Long, Type 11

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Cardiac Arrhythmia, Ankyrin-B-Related

Long Qt Syndrome 4

Ankyrin-B Syndrome

LQT4

Ankyrin-B-Related Cardiac Arrhythmia

Sick Sinus Syndrome With Bradycardia

Arrhythmia, Cardiac, Ankyrin B-Related

Long Qt Syndrome 12

LQT12

Qt Syndrome, Long, Type 12

Long Qt Syndrome 10

LQT10

Atrial Fibrillation, Familial, 17

ATFB17

Long Qt Syndrome-10

Qt Syndrome, Long, Type 10

Long Qt Syndrome 5

LQT5

Long Qt Syndrome 2/5

Lqt2/5

Susceptibility To Acquired Long Qt Syndrome 5

Long Qt Syndrome-5

Long Qt Syndrome 5, Acquired, Susceptibility To

Qt Syndrome, Long, Type 5

Long Qt Syndrome 2-5

Long Qt Syndrome 9

LQT9

Long Qt Syndrome-9

Qt Syndrome, Long, Type 9

Long Qt Syndrome 13

LQT13

Qt Syndrome, Long, Type 13

Long Qt Syndrome 15

LQT15

Long Qt Syndrome, Type 15

Long Qt Syndrome 2

LQT2

Long Qt Syndrome, Acquired, Reduced Susceptibility To

Long Qt Syndrome 1/2

Long Qt Syndrome 2/3

Long Qt Syndrome 2/5

Long Qt Syndrome 2, Acquired, Susceptibility To

Long Qt Syndrome, Acquired, Reduced

Long Qt Syndrome Type 2

Long Qt Syndrome 2/9

Lqt1/2

Lqt2/3

Lqt2/5

Lqt2/9

Susceptibility To Acquired Long Qt Syndrome 2

Long Qt Syndrome-2

Qt Syndrome, Long, Type 2

Long Qt Syndrome 1-2

Long Qt Syndrome 2-3

Long Qt Syndrome 2-5

Long Qt Syndrome 9

Cardiomyopathy, Familial Hypertrophic, 4

Hypertrophic Cardiomyopathy 4

CMH4

Cardiomyopathy, Hypertrophic, 4

Cardiomyopathy, Familial Hypertrophic 4

Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To

Cardiomyopathy, Hypertrophic, Familial, Type 4

Long Qt Syndrome 3

LQT3

Long Qt Syndrome Type 3

Long Qt Syndrome-3

Qt Syndrome, Long, Type 3

Microcephaly 1, Primary, Autosomal Recessive

MCPH1

Premature Chromosome Condensation Syndrome

Pcc Syndrome

Primary Autosomal Recessive Microcephaly 1

Microcephaly, Primary Autosomal Recessive, 1

Premature Chromosome Condensation With Microcephaly And Mental Retardation

Microcephaly Vera

True Microcephaly

Microcephaly, Type 1, Primary, Autosomal Recessive

Autosomal Recessive Primary Microcephaly

Andersen Cardiodysrhythmic Periodic Paralysis

Andersen Syndrome

Andersen-Tawil Syndrome

LQT7

Long Qt Syndrome 7

Ats

Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type

Long Qt Syndrome Type 7

Andersen Tawil Syndrome

Potassium-Sensitive Cardiodysrhythmic Type

Lqts Type 7

Long Qt Syndrome-7

Timothy Syndrome

Long Qt Syndrome With Syndactyly

TS

Lqt8

Long Qt Syndrome 8

Long Qt Syndrome Type 8

Long Qt Syndrome-Syndactyly Syndrome

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Jervell And Lange-Nielsen Syndrome 1

Jervell And Lange-Nielsen Syndrome

Jervell-Lange Nielsen Syndrome

Prolonged Qt Interval In Ekg And Sudden Death

Cardioauditory Syndrome Of Jervell And Lange-Nielsen

Surdo-Cardiac Syndrome

JLNS1

Deafness, Congenital, And Functional Heart Disease

Jlns

Long Qt Interval-Deafness Syndrome

Jervell And Lange-Nielson Syndrome

Jervell Lange-Nielsen Syndrome

Autosomal Recessive Long Qt Syndrome

Cardio-Auditory-Syncope Syndrome

Long Qt Interval-Hearing Loss Syndrome

Congenital Deafness And Functional Heart Disease

Long Qt Interval-Deafness

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Intrinsic Cardiomyopathy
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

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 AKAP9 VGNC VGNC:59719
Bos taurus AKAP9 VGNC VGNC:25791
Macaca mulatta AKAP9 VGNC VGNC:69774
Rattus norvegicus AKAP9 RGD RGD:620833
Canis familiaris AKAP9 VGNC VGNC:37763
Mus musculus AKAP9 MGD MGI:2178217