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

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; 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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68133 (e-PCR)
- UniSTS:39682

D7S2654 (e-PCR)
- UniSTS:11023

D7S1789 (e-PCR), detects polymorphism
- UniSTS:41239

G31814 (e-PCR)
- UniSTS:36120

D7S2653 (e-PCR)
- UniSTS:57398

MARC_21662-21663:1033410511:1 (e-PCR)
- UniSTS:268599

D7S2313 (e-PCR)
- UniSTS:7492

D7S2153E (e-PCR)
- UniSTS:151147

RH80300 (e-PCR)
- UniSTS:93071

G31811 (e-PCR)
- UniSTS:50577

SHGC-31096 (e-PCR)
- UniSTS:1960

SHGC-105142 (e-PCR)
- UniSTS:184491

SHGC-36444 (e-PCR)
- UniSTS:78788

G44753 (e-PCR)
- UniSTS:95212

D11S3316 (e-PCR)
- UniSTS:152558

G42119 (e-PCR)
- UniSTS:93166

G42120 (e-PCR)
- UniSTS:93167

G42121 (e-PCR)
- UniSTS:93168

G42122 (e-PCR)
- UniSTS:93169

G42123 (e-PCR)
- UniSTS:93170

G42124 (e-PCR)
- UniSTS:93171

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

NG_011623.1 RefSeqGene

Range

5001..174799

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_331

mRNA and Protein(s)

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
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
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

91940862..92110673

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.
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.