AKAP6 A-kinase anchoring protein 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKAP6provided by HGNC
Official Full Name: A-kinase anchoring protein 6provided by HGNC
Primary source: HGNC:HGNC:376
See related: Ensembl:ENSG00000151320 MIM:604691; AllianceGenome:HGNC:376
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: ADAP6; PRKA6; mAKAP; ADAP100; AKAP100
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 is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 9.8), heart (RPKM 7.6) and 12 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 14q12

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (32329298..32837684)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (26401181..27034449)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (32798504..33306890)

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?

This study provided evidence for the impact of AKAP6 polymorphisms on susceptibility and prognosis of glioma, suggesting AKAP6 variants might have potential roles in the etiology of glioma.
Title: Impact of AKAP6 polymorphisms on Glioma susceptibility and prognosis.
AKAP6 SNPs found in human patients with cardiovascular diseases significantly affect the cAMP/PKA signaling pathway.
Title: Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling.
Inherited variants in ARHGEF10L and AKAP6, with potential transcriptional regulatory function and association with Epithelial ovarian cancer risk, warrant investigation in independent Epithelial ovarian cancer study populations.
Title: Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility.
Two single nucleotide polymorphisms (SNPs), MIR211-rs10457441 and AKAP6-rs17522122 were genotyped in 1570 non-demented older Australians of European ancestry. AKAP6-rs17522122*T was associated with worse baseline performance in episodic memory, working memory, vocabulary and perceptual speed, but it was not associated with cognitive change in any domain.
Title: Association of AKAP6 and MIR2113 with cognitive performance in a population-based sample of older adults.
Findings indicate a interplay between A-kinase anchoring protein 6 (AKAP6) and myogenin.
Title: AKAP6 inhibition impairs myoblast differentiation and muscle regeneration: Positive loop between AKAP6 and myogenin.
This study expands our understanding of the regulation of MEF2 in skeletal muscle and identifies the mAKAP scaffold as a facilitator of MEF2 transcription and myogenic differentiation.
Title: Myocyte enhancer factor 2 (MEF2) tethering to muscle selective A-kinase anchoring protein (mAKAP) is necessary for myogenic differentiation.
Comparative analysis of the binding responses of mutations to mAKAP could provide important information about how these mutations modulate PKA and PDE4D3 signaling.
Title: Protein kinase A and phosphodiesterase-4D3 binding to coding polymorphisms of cardiac muscle anchoring protein (mAKAP).
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
cAMP-stimulated protein phosphatase 2A activity associated with muscle A kinase-anchoring protein (mAKAP) signaling complexes inhibits the phosphorylation and activity of the cAMP-specific phosphodiesterase PDE4D3
Title: cAMP-stimulated protein phosphatase 2A activity associated with muscle A kinase-anchoring protein (mAKAP) signaling complexes inhibits the phosphorylation and activity of the cAMP-specific phosphodiesterase PDE4D3.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. EBI GWAS Catalog EBI GWAS CatalogPubMed
The genetic architecture of economic and political preferences. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D14S717E (e-PCR)
- UniSTS:151590

RH69589 (e-PCR)
- UniSTS:41264

D14S1236 (e-PCR)
- UniSTS:12390

RH123413 (e-PCR)
- UniSTS:135788

D14S121 (e-PCR)
- UniSTS:47985

RH45526 (e-PCR)
- UniSTS:11191

G36054 (e-PCR)
- UniSTS:6584

RH91259 (e-PCR)
- UniSTS:91335

WI-14096 (e-PCR)
- UniSTS:75979

L18177 (e-PCR)
- UniSTS:7122

SHGC-37333 (e-PCR)
- UniSTS:11227

G17798 (e-PCR)
- UniSTS:53727

SHGC-82243 (e-PCR)
- UniSTS:104191

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adenylate cyclase binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase A binding	NAS Non-traceable Author Statement more info	PubMed
enables protein kinase A binding	TAS Traceable Author Statement more info	PubMed
enables protein kinase A regulatory subunit binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein-membrane adaptor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in action potential	IC Inferred by Curator more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to cytokine stimulus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of calcineurin-NFAT signaling cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of cell growth involved in cardiac muscle cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ryanodine-sensitive calcium-release channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of membrane repolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein kinase A signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IC Inferred by Curator more info

Component	Evidence Code	Pubs
located_in T-tubule	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
located_in caveola	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in intercalated disc	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in junctional sarcoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: A-kinase anchor protein 6

Names: A kinase (PRKA) anchor protein 6; A-kinase anchor protein 100 kDa; AKAP 100; AKAP-6; protein kinase A anchoring protein 6

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.

mRNA and Protein(s)

NM_004274.5 → NP_004265.3 A-kinase anchor protein 6

See identical proteins and their annotated locations for NP_004265.3

Status: REVIEWED

Source sequence(s)

AL049781, AL117672, AL132988, AL136298

Consensus CDS

CCDS9644.1

UniProtKB/Swiss-Prot

A7E242, A7E2D4, O15028, Q13023

Related

ENSP00000280979.4, ENST00000280979.9

Conserved Domains (2) summary

cd00176
Location:961 → 1189

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl02488
Location:784 → 887

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

32329298..32837684

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431969.1 → XP_047287925.1 A-kinase anchor protein 6 isoform X2

UniProtKB/Swiss-Prot

A7E242, A7E2D4, O15028, Q13023
XM_047431966.1 → XP_047287922.1 A-kinase anchor protein 6 isoform X1
XM_024449755.2 → XP_024305523.1 A-kinase anchor protein 6 isoform X1

Conserved Domains (2) summary

cd00176
Location:962 → 1190

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl02488
Location:784 → 888

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_047431970.1 → XP_047287926.1 A-kinase anchor protein 6 isoform X2

UniProtKB/Swiss-Prot

A7E242, A7E2D4, O15028, Q13023
XM_024449754.2 → XP_024305522.1 A-kinase anchor protein 6 isoform X1

Conserved Domains (2) summary

cd00176
Location:962 → 1190

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl02488
Location:784 → 888

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_047431967.1 → XP_047287923.1 A-kinase anchor protein 6 isoform X2

UniProtKB/Swiss-Prot

A7E242, A7E2D4, O15028, Q13023
XM_017021808.3 → XP_016877297.1 A-kinase anchor protein 6 isoform X1

Conserved Domains (2) summary

cd00176
Location:962 → 1190

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl02488
Location:784 → 888

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_024449757.2 → XP_024305525.1 A-kinase anchor protein 6 isoform X1

Conserved Domains (2) summary

cd00176
Location:962 → 1190

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl02488
Location:784 → 888

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_047431968.1 → XP_047287924.1 A-kinase anchor protein 6 isoform X2

UniProtKB/Swiss-Prot

A7E242, A7E2D4, O15028, Q13023
XM_024449756.2 → XP_024305524.1 A-kinase anchor protein 6 isoform X1

Conserved Domains (2) summary

cd00176
Location:962 → 1190

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl02488
Location:784 → 888

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_047431971.1 → XP_047287927.1 A-kinase anchor protein 6 isoform X3
XM_011537378.4 → XP_011535680.1 A-kinase anchor protein 6 isoform X4

Conserved Domains (1) summary

cd00176
Location:57 → 285

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_011537379.4 → XP_011535681.1 A-kinase anchor protein 6 isoform X5

See identical proteins and their annotated locations for XP_011535681.1

Conserved Domains (1) summary

cd00176
Location:34 → 262

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_011537383.4 → XP_011535685.1 A-kinase anchor protein 6 isoform X6

Conserved Domains (1) summary

cl02488
Location:10 → 184

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

26401181..27034449

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377073.1 → XP_054233048.1 A-kinase anchor protein 6 isoform X2

UniProtKB/TrEMBL

B2RP22
XM_054377066.1 → XP_054233041.1 A-kinase anchor protein 6 isoform X1
XM_054377067.1 → XP_054233042.1 A-kinase anchor protein 6 isoform X1
XM_054377068.1 → XP_054233043.1 A-kinase anchor protein 6 isoform X1
XM_054377074.1 → XP_054233049.1 A-kinase anchor protein 6 isoform X1
XM_054377078.1 → XP_054233053.1 A-kinase anchor protein 6 isoform X2

UniProtKB/TrEMBL

B2RP22
XM_054377077.1 → XP_054233052.1 A-kinase anchor protein 6 isoform X2

UniProtKB/TrEMBL

B2RP22
XM_054377069.1 → XP_054233044.1 A-kinase anchor protein 6 isoform X1
XM_054377075.1 → XP_054233050.1 A-kinase anchor protein 6 isoform X1
XM_054377082.1 → XP_054233057.1 A-kinase anchor protein 6 isoform X2

UniProtKB/TrEMBL

B2RP22
XM_054377079.1 → XP_054233054.1 A-kinase anchor protein 6 isoform X2

UniProtKB/TrEMBL

B2RP22
XM_054377076.1 → XP_054233051.1 A-kinase anchor protein 6 isoform X2

UniProtKB/TrEMBL

B2RP22
XM_054377081.1 → XP_054233056.1 A-kinase anchor protein 6 isoform X2

UniProtKB/TrEMBL

B2RP22
XM_054377072.1 → XP_054233047.1 A-kinase anchor protein 6 isoform X1
XM_054377071.1 → XP_054233046.1 A-kinase anchor protein 6 isoform X1
XM_054377080.1 → XP_054233055.1 A-kinase anchor protein 6 isoform X2

UniProtKB/TrEMBL

B2RP22
XM_054377070.1 → XP_054233045.1 A-kinase anchor protein 6 isoform X1
XM_054377083.1 → XP_054233058.1 A-kinase anchor protein 6 isoform X3
XM_054377085.1 → XP_054233060.1 A-kinase anchor protein 6 isoform X4
XM_054377086.1 → XP_054233061.1 A-kinase anchor protein 6 isoform X5
XM_054377084.1 → XP_054233059.1 A-kinase anchor protein 6 isoform X4
XM_054377087.1 → XP_054233062.1 A-kinase anchor protein 6 isoform X6