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

Gene ID: 10142, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:379
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
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Genomic context

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See AKAP9 in Genome Data Viewer
Location:
7q21.2
Exon count:
51
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (91940862..92110673)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93182145..93351954)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91570176..91739987)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267986 Neighboring gene uncharacterized LOC124901698 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:91569717-91570278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18366 Neighboring gene Sharpr-MPRA regulatory region 2641 Neighboring gene cytochrome P450 family 51 subfamily A member 1 Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:91763126-91763952 and GRCh37_chr7:91763953-91764779 Neighboring gene MPRA-validated peak6634 silencer Neighboring gene MPRA-validated peak6635 silencer Neighboring gene MPRA-validated peak6636 silencer Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18367 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18368

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Tau Phosphorylation is Impacted by Rare AKAP9 Mutations Associated with Alzheimer Disease in African Americans. Ikezu T, et al. J Neuroimmune Pharmacol, 2018 Jun. PMID 29516269, Free PMC Article
  2. Integrin and CD3/TCR activation are regulated by the scaffold protein AKAP450. Robles-Valero J, et al. Blood, 2010 May 27. PMID 20231423
  3. The scaffolding protein CG-NAP/AKAP450 is a critical integrating component of the LFA-1-induced signaling complex in migratory T cells. El Din El Homasany BS, et al. J Immunol, 2005 Dec 15. PMID 16339516
  4. Frameshift Mutations of AKAP9 Gene in Gastric and Colorectal Cancers with High Microsatellite Instability. Jo YS, et al. Pathol Oncol Res, 2016 Jul. PMID 26786868
  5. Disconnecting the Golgi ribbon from the centrosome prevents directional cell migration and ciliogenesis. Hurtado L, et al. J Cell Biol, 2011 May 30. PMID 21606206, Free PMC Article

See all (149) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.
    Title: A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.
  2. Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas.
    Title: Expression of RASSF1A, DIRAS3, and AKAP9 Genes in Thyroid Lesions: Implications for Differential Diagnosis and Prognosis of Thyroid Carcinomas.
  3. Alzheimer's disease associated AKAP9 I2558M mutation alters posttranslational modification and interactome of tau and cellular functions in CRISPR-edited human neuronal cells.
    Title: Alzheimer's disease associated AKAP9 I2558M mutation alters posttranslational modification and interactome of tau and cellular functions in CRISPR-edited human neuronal cells.
  4. A-Kinase Anchoring Proteins Diminish TGF-beta1/Cigarette Smoke-Induced Epithelial-To-Mesenchymal Transition.
    Title: A-Kinase Anchoring Proteins Diminish TGF-β(1)/Cigarette Smoke-Induced Epithelial-To-Mesenchymal Transition.
  5. This study shows the impact of rare functional AKAP9 mutations on Tau, a central mechanism of Alzheimer disease pathogenesis
    Title: Tau Phosphorylation is Impacted by Rare AKAP9 Mutations Associated with Alzheimer Disease in African Americans.
  6. In cultured colorectal cancer (CRC) cells, knockdown of AKAP-9 inhibited cell proliferation, invasion, and migration. AKAP-9 deficiency also attenuated CRC tumor growth and metastasis in vivo. Mechanistically, AKAP-9 interacted with cdc42 interacting protein 4 (CIP4) and regulated its expression.
    Title: AKAP-9 promotes colorectal cancer development by regulating Cdc42 interacting protein 4.
  7. this study provide critical insights into the roles of CG-NAP in regulating cytoskeletal architecture and T-cell migration
    Title: Centrosome- and Golgi-Localized Protein Kinase N-Associated Protein Serves As a Docking Platform for Protein Kinase A Signaling and Microtubule Nucleation in Migrating T-Cells.
  8. RNA sequencing identified in both an AKAP9-BRAF gene fusion
    Title: Unclassified sclerosing malignant melanomas with AKAP9-BRAF gene fusion: a report of two cases and review of BRAF fusions in melanocytic tumors.
  9. Data suggest that CDK5RAP2 and CEP170 both interact with microtubule nucleation-promoting region of AKAP350A; CEP68 interacts with distal C-terminal region of AKAP350A; AKAP350A spans the bridge between centrioles. (CDK5RAP2 = CDK5 regulatory subunit associated protein 2; CEP170 = centrosomal protein 170kDa; AKAP350A = A kinase (PRKA) anchor protein (yotiao) 9; CEP68 = centrosomal protein 68kDa)
    Title: The C-terminal region of A-kinase anchor protein 350 (AKAP350A) enables formation of microtubule-nucleation centers and interacts with pericentriolar proteins.
  10. Data suggest that AKAP350A utilizes organelle-specific targeting domains to promote spatially distinct microtubule nucleation pathways. [REVIEW]
    Title: A centrosomal scaffold shows some self-control.
Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Long QT syndrome 11
MedGen: C2678483 OMIM: 611820 GeneReviews: Long QT Syndrome Overview
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EBI GWAS Catalog

Description
Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0803

Gene Ontology Provided by GOA

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

General protein information

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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)

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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_001379277.1 → NP_001366206.1  A-kinase anchor protein 9 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC000120, AC004013
    Consensus CDS
    CCDS94142.1
    UniProtKB/TrEMBL
    A0A2R8Y590
    Related
    ENSP00000494626.2, ENST00000491695.2
    Conserved Domains (4) summary
    COG1196
    Location:231 → 584
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:347 → 968
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam17380
    Location:62 → 372
    DUF5401; Family of unknown function (DUF5401)
    pfam10495
    Location:1919 → 2000
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

  2. NM_005751.5 → NP_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
    A4D1F0, A4D1F2, A4D1F4, O14869, O43355, O94895, Q75N20, Q99996, Q9UQH3, Q9UQQ4, Q9Y6B8, Q9Y6Y2
    UniProtKB/TrEMBL
    A0A7P0T928
    Related
    ENSP00000348573.3, ENST00000356239.8
    Conserved Domains (2) summary
    pfam10495
    Location:3704 → 3785
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    cl25732
    Location:277 → 989
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_147185.3 → NP_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
    Consensus CDS
    CCDS94141.1
    UniProtKB/TrEMBL
    A0A7P0T928
    Related
    ENSP00000505204.1, ENST00000680766.1
    Conserved Domains (5) summary
    COG1196
    Location:277 → 989
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam02463
    Location:2192 → 2866
    SMC_N; RecF/RecN/SMC N terminal domain
    pfam10495
    Location:3696 → 3777
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    cl19219
    Location:2110 → 2217
    DUF342; Protein of unknown function (DUF342)
    cl19548
    Location:324 → 612
    DUF515; Protein of unknown function (DUF515)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    91940862..92110673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93182145..93351954
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99996.4 GenPept UniProtKB/Swiss-Prot:Q99996

Gene LinkOut

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