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

AKAP9 - A-kinase anchoring protein 9 Gene

Homo sapiens

Also known as LQT11; PRKA9; AKAP-9; CG-NAP; YOTIAO; AKAP350; AKAP450; PPP1R45; HYPERION; MU-RMS-40.16A

Gene ID: 10142 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
11799244 GOA
enables potassium channel regulator activity IMP
IMP: Inferred from mutant phenotype
16002409 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12163479 GOA
enables protein kinase A regulatory subunit binding IDA
IDA: Inferred from direct assay
21502359 GOA
enables protein kinase A regulatory subunit binding IPI
IPI: Inferred from physical interaction
17911601 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
11799244 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cellular response to cAMP IMP
IMP: Inferred from mutant phenotype
16002409 GOA
involved in maintenance of centrosome location IMP
IMP: Inferred from mutant phenotype
25657325 GOA
involved in microtubule nucleation IMP
IMP: Inferred from mutant phenotype
19242490 GOA
involved in positive regulation of microtubule polymerization IMP
IMP: Inferred from mutant phenotype
29162697 GOA
involved in positive regulation of peptidyl-serine phosphorylation IMP
IMP: Inferred from mutant phenotype
18093912 GOA
involved in positive regulation of potassium ion transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
16002409 GOA
involved in protein-containing complex localization IDA
IDA: Inferred from direct assay
19218243 GOA
involved in regulation of Golgi organization IDA
IDA: Inferred from direct assay
27666745 GOA
involved in regulation of cardiac muscle cell action potential involved in regulation of contraction IMP
IMP: Inferred from mutant phenotype
18093912 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: Inferred from mutant phenotype
18093912 GOA
involved in regulation of membrane repolarization IMP
IMP: Inferred from mutant phenotype
16002409 GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization IMP
IMP: Inferred from mutant phenotype
18093912 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
12163479 GOA
located in Golgi stack IDA
IDA: Inferred from direct assay
19242490 GOA
located in centrosome IDA
IDA: Inferred from direct assay
20096683 GOA
located in cis-Golgi network IDA
IDA: Inferred from direct assay
24648492 GOA
is active in glutamatergic synapse IDA
IDA: Inferred from direct assay
10390370 GOA
is active in glutamatergic synapse IMP
IMP: Inferred from mutant phenotype
10390370 GOA
part of potassium channel complex IDA
IDA: Inferred from direct assay
19218243 GOA
part of voltage-gated potassium channel complex IDA
IDA: Inferred from direct assay
11799244 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AKAP9 Protein Structure

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.
Protein Preferred Names Protein Names

A-kinase anchor protein 9

A kinase (PRKA) anchor protein (yotiao) 9

AKAP9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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