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AKAP9 A-kinase anchoring protein 9 [ Homo sapiens (human) ]

Gene ID: 10142, updated on 24-Nov-2020

Summary

Official Symbol
AKAP9provided by HGNC
Official Full Name
A-kinase anchoring protein 9provided by HGNC
Primary source
HGNC:HGNC:379
See related
Ensembl:ENSG00000127914 MIM:604001
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LQT11; PRKA9; AKAP-9; CG-NAP; YOTIAO; AKAP350; AKAP450; PPP1R45; HYPERION; MU-RMS-40.16A
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]
Expression
Ubiquitous expression in colon (RPKM 12.3), small intestine (RPKM 8.8) and 25 other tissues See more
Orthologs

Genomic context

See AKAP9 in Genome Data Viewer
Location:
7q21.2
Exon count:
55
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (91940862..92112908)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91570181..91739987)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375392 Neighboring gene uncharacterized LOC101927473 Neighboring gene uncharacterized LOC112267986 Neighboring gene mitochondrial transcription termination factor 1 Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene cytochrome P450 family 51 subfamily A member 1 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene microRNA 1285-1 Neighboring gene KRIT1 ankyrin repeat containing

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.
GeneReviews: Not available
Long QT syndrome 11
MedGen: C2678483 OMIM: 611820 GeneReviews: Long QT Syndrome
Compare labs

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with A kinase (PRKA) anchor protein 9 (AKAP9) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0803

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
potassium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium channel regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A regulatory subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase A regulatory subunit binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase A regulatory subunit binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cardiac conduction TAS
Traceable Author Statement
more info
 
cellular response to cAMP IMP
Inferred from Mutant Phenotype
more info
PubMed 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
maintenance of centrosome location IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
maintenance of centrosome location IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule nucleation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of microtubule polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of potassium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of potassium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of Golgi organization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cardiac muscle cell action potential involved in regulation of contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of postsynaptic neurotransmitter receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of postsynaptic neurotransmitter receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi stack IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi stack IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cis-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cis-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
synaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
A-kinase anchor protein 9
Names
A kinase (PRKA) anchor protein (yotiao) 9
A kinase (PRKA) anchor protein 9
A-kinase anchor protein 350 kDa
A-kinase anchor protein 450 kDa
AKAP 120-like protein
AKAP9-BRAF fusion protein
centrosome- and Golgi-localized PKN-associated protein
centrosome- and golgi-localized protein kinase N-associated protein
kinase N-associated protein
protein hyperion
protein kinase A anchoring protein 9
protein phosphatase 1, regulatory subunit 45
protein yotiao

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011623.1 RefSeqGene

    Range
    5001..174799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_331

mRNA and Protein(s)

  1. NM_001379277.1NP_001366206.1  A-kinase anchor protein 9 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC000120, AC004013
    Related
    ENSP00000378042.2, ENST00000394534.6
  2. NM_005751.5NP_005742.4  A-kinase anchor protein 9 isoform 2

    See identical proteins and their annotated locations for NP_005742.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
    Source sequence(s)
    AC000066, AC000120, AC003086, AC004013
    Consensus CDS
    CCDS5622.1
    UniProtKB/Swiss-Prot
    Q99996
    UniProtKB/TrEMBL
    Q5GIA7, Q6PJH3
    Related
    ENSP00000348573.3, ENST00000356239.7
    Conserved Domains (2) summary
    pfam10495
    Location:37043785
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    cl25732
    Location:277989
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_147185.3NP_671714.1  A-kinase anchor protein 9 isoform 3

    See identical proteins and their annotated locations for NP_671714.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site at the end of an exon compared to variant 2. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 2.
    Source sequence(s)
    AC003086, AF083037, AJ131693, AY528715, BC015533, CR997756
    UniProtKB/Swiss-Prot
    Q99996
    UniProtKB/TrEMBL
    Q5GIA7, Q6PJH3
    Conserved Domains (5) summary
    COG1196
    Location:277989
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam02463
    Location:21922866
    SMC_N; RecF/RecN/SMC N terminal domain
    pfam10495
    Location:36963777
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    cl19219
    Location:21102217
    DUF342; Protein of unknown function (DUF342)
    cl19548
    Location:324612
    DUF515; Protein of unknown function (DUF515)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    91940862..92112908
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011642.2XP_016867131.1  A-kinase anchor protein 9 isoform X1

  2. XM_017011643.2XP_016867132.1  A-kinase anchor protein 9 isoform X2

  3. XM_017011648.2XP_016867137.1  A-kinase anchor protein 9 isoform X7

  4. XM_017011650.2XP_016867139.1  A-kinase anchor protein 9 isoform X9

  5. XM_017011651.2XP_016867140.1  A-kinase anchor protein 9 isoform X10

  6. XM_024446631.1XP_024302399.1  A-kinase anchor protein 9 isoform X13

    Conserved Domains (2) summary
    pfam10495
    Location:36703751
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    cl25732
    Location:277989
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_017011654.2XP_016867143.1  A-kinase anchor protein 9 isoform X14

  8. XM_017011653.2XP_016867142.1  A-kinase anchor protein 9 isoform X12

  9. XM_017011645.2XP_016867134.1  A-kinase anchor protein 9 isoform X4

  10. XM_017011644.2XP_016867133.1  A-kinase anchor protein 9 isoform X3

  11. XM_017011646.2XP_016867135.1  A-kinase anchor protein 9 isoform X5

  12. XM_017011649.2XP_016867138.1  A-kinase anchor protein 9 isoform X8

  13. XM_017011652.2XP_016867141.1  A-kinase anchor protein 9 isoform X11

  14. XM_017011647.2XP_016867136.1  A-kinase anchor protein 9 isoform X6

  15. XM_017011655.2XP_016867144.1  A-kinase anchor protein 9 isoform X15

  16. XM_017011656.2XP_016867145.1  A-kinase anchor protein 9 isoform X15

  17. XM_017011657.2XP_016867146.1  A-kinase anchor protein 9 isoform X16

  18. XM_017011658.2XP_016867147.1  A-kinase anchor protein 9 isoform X17

  19. XM_017011659.2XP_016867148.1  A-kinase anchor protein 9 isoform X18

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_147166.1: Suppressed sequence

    Description
    NM_147166.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_147171.1: Suppressed sequence

    Description
    NM_147171.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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