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

    Gene ID: 11216, updated on 10-Dec-2024

    Summary

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    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

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    See AKAP10 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene unc-51 like autophagy activating kinase 2 Neighboring gene uncharacterized LOC124904110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:19770366-19770874 Neighboring gene tRNA-Gly (anticodon CCC) 3-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19801345-19801846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19801847-19802346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19881511-19882224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19890363-19891159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19896026-19896559 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:19898031-19898532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:19898533-19899032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19911474-19912041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8304 Neighboring gene SPECC1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 5861 Neighboring gene sperm antigen with calponin homology and coiled-coil domains 1 Neighboring gene uncharacterized LOC100131943

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The Ile646Val (2073A>G) polymorphism in the kinase-binding domain of A-kinase anchoring protein 10 and the risk of colorectal cancer. Wang MJ, et al. Oncology, 2009. PMID 19209010
    2. [Genotyping of AKAP10 gene 2073A/G single nucleotide polymorphism by TaqMan probe real-time PCR]. Wang MJ, et al. Sichuan Da Xue Xue Bao Yi Xue Ban, 2009 Mar. PMID 19462906
    3. AKAP10 (I646V) functional polymorphism predicts heart rate and heart rate variability in apparently healthy, middle-aged European-Americans. Neumann SA, et al. Psychophysiology, 2009 May. PMID 19496216, Free PMC Article
    4. Association of the A1936G (rs203462) of A-kinase anchoring protein 10 polymorphisms with QT interval prolongation during kidney transplantation. Zukowski M, et al. Transplant Proc, 2009 Oct. PMID 19857670
    5. Possible counter effect in newborns of 1936A>G (I646V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10. Łoniewska B, et al. J Perinatol, 2012 Mar. PMID 21701445

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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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

    Homology

    Clone Names

    • MGC9414

    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 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

    1. NG_011493.1 RefSeqGene

      Range
      4989..78515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      19904302..19977828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_047435219.1 → XP_047291175.1  A-kinase anchor protein 10, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z513

    RNA

    1. XR_007065258.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      19852961..19926536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_054314856.1 → XP_054170831.1  A-kinase anchor protein 10, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z513

    RNA

    1. XR_008484773.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43572.2 GenPept UniProtKB/Swiss-Prot:O43572

    Gene LinkOut

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