AKAP8 A-kinase anchoring protein 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKAP8provided by HGNC
Official Full Name: A-kinase anchoring protein 8provided by HGNC
Primary source: HGNC:HGNC:378
See related: Ensembl:ENSG00000105127 MIM:604692; AllianceGenome:HGNC:378
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: AKAP-8; AKAP95; AKAP 95; AKAP-95
Summary: This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Expression: Ubiquitous expression in bone marrow (RPKM 13.0), spleen (RPKM 9.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.12

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (15353385..15379787, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (15478331..15504764, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (15464196..15490598, complement)

Chromosome 19 - NC_000019.10 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-Kinase Anchor Protein 95 Is Involved in ERK1/2-Elk-1 Signal Transduction in Colon Cancer.
Title: A-Kinase Anchor Protein 95 Is Involved in ERK1/2-Elk-1 Signal Transduction in Colon Cancer.
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.
Biophysical properties of AKAP95 protein condensates regulate splicing and tumorigenesis.
Title: Biophysical properties of AKAP95 protein condensates regulate splicing and tumorigenesis.
It consists of AKAP95, PKA, and PDE4D5 and show that it forms a functional cyclic AMP (cAMP) signaling microdomain.
Title: AKAP95 Organizes a Nuclear Microdomain to Control Local cAMP for Regulating Nuclear PKA.
Identification of A-Kinase Anchor Protein (AKAP8) as a splicing regulatory factor that impedes EMT and breast cancer metastasis. AKAP8 not only is capable of inhibiting splicing activity of the EMT-promoting splicing regulator hnRNPM through protein-protein interaction, it also directly binds to RNA and alters splicing outcomes. Genome-wide analysis shows that AKAP8 promotes an epithelial cell state splicing program.
Title: The RNA-binding protein AKAP8 suppresses tumor metastasis by antagonizing EMT-associated alternative splicing.
The results of the present study demonstrate a crucial role for AKAP95 in CYP19A1 expression and oestrogen synthesis in humans luteinized granulosa cells, which implies that AKAP95 may be involved in the pathogenesis of polycystic ovary syndrome.
Title: Role of A-kinase anchoring protein 95 in the regulation of cytochrome P450 family 19 subfamily A member 1 (CYP19A1) in human ovarian granulosa cells.
The PKA-binding domain of AKAP8 and the C-terminal domain of DPY30, also called Dpy-30 motif, are crucial for the interaction between these proteins. AKAP8 interacts with DPY30 and the RII alpha regulatory subunit of PKA both in the interphase and in mitotic cells. A single amino acid substitution in DPY30 L69D affects its dimerization and completely abolishes its interaction with AKAP8.
Title: PKA-binding domain of AKAP8 is essential for direct interaction with DPY30 protein.
These results establish AKAP95 as a mostly positive regulator of pre-mRNA splicing and a possible integrator of transcription and splicing regulation.
Title: AKAP95 regulates splicing through scaffolding RNAs and RNA processing factors.
Results suggest that ALK generated by alternative transcription Initiation induces chromatin structural changes and heterochromatinization through phosphorylation of AKAP8 in the nucleus.
Title: The Truncated Isoform of the Receptor Tyrosine Kinase ALK Generated by Alternative Transcription Initiation (ALK(ATI)) Induces Chromatin Structural Changes in the Nucleus in a Kinase Activity-Dependent Manner.
Using a BioID proximity-based proteomic screen, we identify the nuclear pore complex protein TPR as a novel AKAP95 binding partner. We show interaction between AKAP95 and TPR in mitosis, and an AKAP95-dependent enrichment of TPR in the spindle microtubule area in metaphase, then later in the spindle midzone area.
Title: AKAP95 interacts with nucleoporin TPR in mitosis and is important for the spindle assembly checkpoint.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

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	Positional proteomics analysis identifies the cleavage of human A kinase (PRKA) anchor protein 8 (AKAP8) at amino acid residues 310-311 by the HIV-1 protease	PubMed

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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

RH103467 (e-PCR)
- UniSTS:97792

WI-17314 (e-PCR)
- UniSTS:45639

AKAP8_9079 (e-PCR)
- UniSTS:467549

RH48708 (e-PCR)
- UniSTS:70241

AKAP8 (e-PCR)
- UniSTS:505718

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NF-kappaB binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables histone deacetylase binding	IDA Inferred from Direct Assay 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	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell cycle G2/M phase transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to prostaglandin E stimulus	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in mitotic chromosome condensation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in condensed chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in female pronucleus	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
is_active_in nuclear matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: A-kinase anchor protein 8

Names: A kinase (PRKA) anchor protein 8; A-kinase anchor protein, 95kDa

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.