AKAP5 A-kinase anchoring protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKAP5provided by HGNC
Official Full Name: A-kinase anchoring protein 5provided by HGNC
Primary source: HGNC:HGNC:375
See related: Ensembl:ENSG00000179841 MIM:604688; AllianceGenome:HGNC:375
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: H21; AKAP75; AKAP79
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. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 10.3), colon (RPKM 3.6) and 10 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 14q23.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (64465499..64474503)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (58673265..58682271)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (64932217..64941221)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

G protein-coupled estrogen receptor (GPER)/GPR30 forms a complex with the beta1-adrenergic receptor, a membrane-associated guanylate kinase (MAGUK) scaffold protein, and protein kinase A anchoring protein (AKAP) 5 in MCF7 breast cancer cells.
Title: G protein-coupled estrogen receptor (GPER)/GPR30 forms a complex with the β(1)-adrenergic receptor, a membrane-associated guanylate kinase (MAGUK) scaffold protein, and protein kinase A anchoring protein (AKAP) 5 in MCF7 breast cancer cells.
AKAP79 Orchestrates a Cyclic AMP Signalosome Adjacent to Orai1 Ca[2+] Channels.
Title: AKAP79 Orchestrates a Cyclic AMP Signalosome Adjacent to Orai1 Ca(2+) Channels.
Nuanced Interactions between AKAP79 and STIM1 with Orai1 Ca[2+] Channels at Endoplasmic Reticulum-Plasma Membrane Junctions Sustain NFAT Activation.
Title: Nuanced Interactions between AKAP79 and STIM1 with Orai1 Ca(2+) Channels at Endoplasmic Reticulum-Plasma Membrane Junctions Sustain NFAT Activation.
The N terminus of Orai1 couples to the AKAP79 signaling complex to drive NFAT1 activation by local Ca(2+) entry.
Title: The N terminus of Orai1 couples to the AKAP79 signaling complex to drive NFAT1 activation by local Ca(2+) entry.
AKAP79/150 coordinates leptin-induced PKA signaling to regulate KATP channel trafficking in pancreatic beta-cells.
Title: AKAP79/150 coordinates leptin-induced PKA signaling to regulate K(ATP) channel trafficking in pancreatic β-cells.
AKAP5 anchors PKA to enhance regulation of the HERG channel.
Title: AKAP5 anchors PKA to enhance regulation of the HERG channel.
AKAP5 complex facilitates purinergic modulation of vascular L-type Ca(2+) channel CaV1.2.
Title: AKAP5 complex facilitates purinergic modulation of vascular L-type Ca(2+) channel Ca(V)1.2.
AKAP79/150 LZ motif functions to recruit NFAT to the L-type calcium channels signaling complex to promote its activation by AKAP-anchored calcineurin.
Title: AKAP79/150 recruits the transcription factor NFAT to regulate signaling to the nucleus by neuronal L-type Ca(2+) channels.
These findings suggest that AKAP79, by orchestrating phosphorylation, represents a key to a GluA1 phosphorylation passcode, which allows the GluA1 subunit to escape GluA2 dominance and promote the appearance of CP-AMPARs.
Title: Preferential generation of Ca(2+)-permeable AMPA receptors by AKAP79-anchored protein kinase C proceeds via GluA1 subunit phosphorylation at Ser-831.
results provide the first direct evidence for a function of the well-described AKAP79/150 trafficking in regulating LTD-induced spine shrinkage.
Title: CaMKII regulates the depalmitoylation and synaptic removal of the scaffold protein AKAP79/150 to mediate structural long-term depression.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

sY3122 (e-PCR)
- UniSTS:515164

G35386 (e-PCR)
- UniSTS:79725

D15S1477 (e-PCR)
- UniSTS:474482

RH17748 (e-PCR)
- UniSTS:37749

AKAP5__4279 (e-PCR)
- UniSTS:462725

GDB:631802 (e-PCR)
- UniSTS:158429

SHGC-24381 (e-PCR)
- UniSTS:13813

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables SH3 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables adenylate cyclase binding	IBA Inferred from Biological aspect of Ancestor more info
enables adenylate cyclase binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-2 adrenergic receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	EXP Inferred from Experiment more info	PubMed
enables glutamate receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables glutamate receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A binding	TAS Traceable Author Statement 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 protein phosphatase 2B binding	IDA Inferred from Direct Assay more info	PubMed
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcineurin-NFAT signaling cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of adenylate cyclase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of calcineurin-NFAT signaling cascade	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of calcium ion import across plasma membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of endosome to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of long-term synaptic potentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein kinase A signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
is_active_in excitatory synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in postsynaptic recycling endosome	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic recycling endosome membrane	IEA Inferred from Electronic Annotation more info
part_of protein serine/threonine phosphatase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: A-kinase anchor protein 5

Names: A kinase (PRKA) anchor protein 5; A-kinase anchor protein 79 kDa; A-kinase anchoring protein 75/79; AKAP 79; cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.