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

Gene ID: 11216, updated on 9-Dec-2018

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
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

Genomic context

See AKAP10 in Genome Data Viewer
Location:
17p11.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (19904302..19977856, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19807765..19881169, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene unc-51 like autophagy activating kinase 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 3 Neighboring gene tRNA-Gly (CCC) 3-1 Neighboring gene sperm antigen with calponin homology and coiled-coil domains 1 Neighboring gene uncharacterized LOC100131943 Neighboring gene uncharacterized LOC105371579

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Conduction disorder of the heart
MedGen: C0264886 OMIM: 115080 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

Pathways from BioSystems

  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
    G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC9414

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
A-kinase anchor protein 10, mitochondrial
Names
A kinase (PRKA) anchor protein 10
A kinase 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)

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

  1. NG_011493.1 RefSeqGene

    Range
    4961..78365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC005730, CB242966
    Consensus CDS
    CCDS82091.1
    UniProtKB/TrEMBL
    E7EMD6
    Related
    ENSP00000378907.3, ENST00000395536.7
    Conserved Domains (3) summary
    cd08721
    Location:383489
    RGS_AKAP2_2; Regulator of G protein signaling (RGS) domain 2 found in the A-kinase anchoring protein, D-AKAP2
    cd08735
    Location:122367
    RGS_AKAP2_1; Regulator of G protein signaling (RGS) domain 1 found in the A-kinase anchoring protein, D-AKAP2
    cd12804
    Location:560604
    AKAP10_AKB; PKA-binding (AKB) domain of A Kinase Anchor Protein 10
  2. NM_007202.4NP_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
    O43572
    UniProtKB/TrEMBL
    A0A0S2Z4Z7
    Related
    ENSP00000225737.6, ENST00000225737.10
    Conserved Domains (3) summary
    cd08721
    Location:383503
    RGS_AKAP2_2; Regulator of G protein signaling (RGS) domain 2 found in the A-kinase anchoring protein, D-AKAP2
    cd08735
    Location:122367
    RGS_AKAP2_1; Regulator of G protein signaling (RGS) domain 1 found in the A-kinase anchoring protein, D-AKAP2
    cd12804
    Location:618662
    AKAP10_AKB; PKA-binding (AKB) domain of A Kinase Anchor Protein 10

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    19904302..19977856 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_933969.3 RNA Sequence

  2. XR_001752418.2 RNA Sequence

  3. XR_001752417.2 RNA Sequence

  4. XR_243536.3 RNA Sequence

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