AKAP10 A-kinase anchoring protein 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AKAP10provided by HGNC
Official Full Name: A-kinase anchoring protein 10provided by HGNC
Primary source: HGNC:HGNC:368
See related: Ensembl:ENSG00000108599 MIM:604694; AllianceGenome:HGNC:368
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: PRKA10; AKAP-10; D-AKAP2; D-AKAP-2
Summary: This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]
Expression: Ubiquitous expression in thyroid (RPKM 7.7), testis (RPKM 7.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (19904302..19977828, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (19852961..19926536, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (19807615..19881141, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Here, using zebrafish, murine, and human models, the authors show that erythropoietin (EPO) signaling, together with the GATA1 transcriptional target, AKAP10, regulates heme biosynthesis during erythropoiesis at the outer mitochondrial membrane.
Title: Erythropoietin signaling regulates heme biosynthesis.
Significant association between the AKAP10 polymorphisms and reduced risk of Preterm birth in the Malays was observed.
Title: Genetic association of AKAP10 gene polymorphism with reduced risk of preterm birth.
Its signaling pathway is associated with the progression and prognosis of colorectal neoplasms.
Title: PKA RIα/A-kinase anchoring proteins 10 signaling pathway and the prognosis of colorectal cancer.
Described is a structure of D-AKAP2 in complex with two interacting partners and the exact mechanism by which a segment that on its own is disordered presents an alpha-helix to PKA and a beta-strand to PDZK1.
Title: D-AKAP2:PKA RII:PDZK1 ternary complex structure: insights from the nucleation of a polyvalent scaffold.
Studied the clinicopathologic significance of A-kinase anchoring proteins 10 (AKAP 10) expression and the relationship with its polymorphism in colorectal cancer.
Title: A-kinase anchoring proteins 10 expression in relation to 2073A/G polymorphism and tumor progression in patients with colorectal cancer.
Questioned whether 1936A>G is associated with metabolic changes in newborns that are predictive of the metabolic phenotype in adults. Demonstrate an association between 1936G variant and total cholesterol level in cord blood of Polish newborns.
Title: Polymorphism 1936A > G in the AKAP10 gene (encoding A-kinase-anchoring protein 10) is associated with higher cholesterol cord blood concentration in Polish full-term newsborns.
There is possible association between a 1936G AKAP10 variant and blood pressure in Polish newborns.
Title: Association of 1936A > G in AKAP10 (A-kinase anchoring protein 10) and blood pressure in Polish full-term newborns.
No significant differences were found in AKAP10 genotype or allele distribution between the age groups (newborn vs. nonagenerian) for either gender.
Title: 1936A→G (I646 V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10 in very long-lived poles is similar to that in newborns.
Results suggest G1936 polymorphism in A-kinase-anchoring protein is preventative factor against preterm birth, in contrast with previously asserted negative effects in adults.
Title: Possible counter effect in newborns of 1936A>G (I646V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10.
Results describe the structures of the protein kinase A RIalpha subunit D/D domain alone and in complex with D-AKAP2.
Title: Structure of D-AKAP2:PKA RI complex: insights into AKAP specificity and selectivity.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

EBI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-19974 (e-PCR)
- UniSTS:67339

AKAP10_9241 (e-PCR)
- UniSTS:468275

D17S1447E (e-PCR)
- UniSTS:150486

RH65769 (e-PCR)
- UniSTS:53994

SHGC-53199 (e-PCR)
- UniSTS:69629

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: A-kinase anchor protein 10, mitochondrial

Names: A kinase (PRKA) anchor protein 10; dual specificity A kinase-anchoring protein 2; mitochondrial A kinase PPKA anchor protein 10; protein kinase A anchoring protein 10

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_011493.1 RefSeqGene

Range

4989..78515

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001330152.2 → NP_001317081.1 A-kinase anchor protein 10, mitochondrial isoform 2

Status: REVIEWED

Source sequence(s)

AC005730, CB242966

Consensus CDS

CCDS82091.1

UniProtKB/TrEMBL

E7EMD6, Q2XPN4

Related

ENSP00000378907.3, ENST00000395536.7

Conserved Domains (3) summary

cd08721
Location:383 → 489

RGS_AKAP2_2; Regulator of G protein signaling (RGS) domain 2 found in the A-kinase anchoring protein, D-AKAP2

cd08735
Location:122 → 367

RGS_AKAP2_1; Regulator of G protein signaling (RGS) domain 1 found in the A-kinase anchoring protein, D-AKAP2

cd12804
Location:560 → 604

AKAP10_AKB; PKA-binding (AKB) domain of A Kinase Anchor Protein 10
NM_007202.4 → NP_009133.2 A-kinase anchor protein 10, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_009133.2

Status: REVIEWED

Source sequence(s)

AC005730, AC015726, BC017055, BP229845

Consensus CDS

CCDS11214.1

UniProtKB/Swiss-Prot

B2R650, O43572, Q96AJ7

UniProtKB/TrEMBL

A0A0S2Z4Y8, A0A0S2Z4Z7

Related

ENSP00000225737.6, ENST00000225737.11

Conserved Domains (3) summary

cd08721
Location:383 → 503

RGS_AKAP2_2; Regulator of G protein signaling (RGS) domain 2 found in the A-kinase anchoring protein, D-AKAP2

cd08735
Location:122 → 367

RGS_AKAP2_1; Regulator of G protein signaling (RGS) domain 1 found in the A-kinase anchoring protein, D-AKAP2

cd12804
Location:618 → 662

AKAP10_AKB; PKA-binding (AKB) domain of A Kinase Anchor Protein 10

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

19904302..19977828 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435220.1 → XP_047291176.1 A-kinase anchor protein 10, mitochondrial isoform X2
XM_047435219.1 → XP_047291175.1 A-kinase anchor protein 10, mitochondrial isoform X1

UniProtKB/TrEMBL

A0A0S2Z513

RNA

XR_007065258.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

19852961..19926536 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314857.1 → XP_054170832.1 A-kinase anchor protein 10, mitochondrial isoform X2
XM_054314856.1 → XP_054170831.1 A-kinase anchor protein 10, mitochondrial isoform X1

UniProtKB/TrEMBL

A0A0S2Z513