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    AKAP11 A-kinase anchoring protein 11 [ Homo sapiens (human) ]

    Gene ID: 11215, updated on 3-Nov-2024

    Summary

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    Official Symbol
    AKAP11provided by HGNC
    Official Full Name
    A-kinase anchoring protein 11provided by HGNC
    Primary source
    HGNC:HGNC:369
    See related
    Ensembl:ENSG00000023516 MIM:604696; AllianceGenome:HGNC:369
    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
    PRKA11; AKAP-11; AKAP220; PPP1R44
    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 expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 22.2), testis (RPKM 15.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AKAP11 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (42271477..42323261)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (41491099..41543005)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (42846288..42897397)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene diacylglycerol kinase eta Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 11 Neighboring gene CRISPRi-validated cis-regulatory element chr13.544 Neighboring gene CRISPRi-validated cis-regulatory element chr13.545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5298 Neighboring gene NANOG hESC enhancer GRCh37_chr13:42858188-42858689 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:42872570-42873769 Neighboring gene fumarate hydratase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7641 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:42933453-42934652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7646 Neighboring gene fatty acid binding protein 3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5300 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:42979722-42980921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7649 Neighboring gene long intergenic non-protein coding RNA 2341

    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 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. AKAP220 protein organizes signaling elements that impact cell migration. Logue JS, et al. J Biol Chem, 2011 Nov 11. PMID 21890631, Free PMC Article
    2. AKAP11 gene polymorphism is associated with bone mass measured by quantitative ultrasound in young adults. Correa-Rodríguez M, et al. Int J Med Sci, 2018. PMID 30013441, Free PMC Article
    3. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia. Palmer DS, et al. Nat Genet, 2022 May. PMID 35410376, Free PMC Article
    4. Multiple interactions within the AKAP220 signaling complex contribute to protein phosphatase 1 regulation. Schillace RV, et al. J Biol Chem, 2001 Apr 13. PMID 11152471
    5. Selective autophagy of AKAP11 activates cAMP/PKA to fuel mitochondrial metabolism and tumor cell growth. Deng Z, et al. Proc Natl Acad Sci U S A, 2021 Apr 6. PMID 33785595, Free PMC Article

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
      Title: Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
    2. Selective autophagy of AKAP11 activates cAMP/PKA to fuel mitochondrial metabolism and tumor cell growth.
      Title: Selective autophagy of AKAP11 activates cAMP/PKA to fuel mitochondrial metabolism and tumor cell growth.
    3. AKAP11 gene (rs9533090) influences QUS trait in a population of Caucasian young adults. The rs9533090 SNP may be considered a factor affecting peak bone mass acquisition.
      Title: AKAP11 gene polymorphism is associated with bone mass measured by quantitative ultrasound in young adults.
    4. PKA compartmentalization via AKAP220 and AKAP12 contributes to endothelial barrier regulation.
      Title: PKA compartmentalization via AKAP220 and AKAP12 contributes to endothelial barrier regulation.
    5. Protein Kinase A Opposes the Phosphorylation-dependent Recruitment of Glycogen Synthase Kinase 3beta to A-kinase Anchoring Protein 220.
      Title: Protein Kinase A Opposes the Phosphorylation-dependent Recruitment of Glycogen Synthase Kinase 3β to A-kinase Anchoring Protein 220.
    6. AKAP220 protein organizes signaling elements that impact cell migration.
      Title: AKAP220 protein organizes signaling elements that impact cell migration.
    7. binds to glycogen synthase kinase-3beta (GSK-3beta) and mediates protein kinase A-dependent inhibition of GSK-3beta
      Title: A-kinase anchoring protein AKAP220 binds to glycogen synthase kinase-3beta (GSK-3beta ) and mediates protein kinase A-dependent inhibition of GSK-3beta.
    Submit: New GeneRIF Correction

    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
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
    EBI GWAS Catalog
    Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
    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)

    Genotypes

    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

    • FLJ11304, KIAA0629, DKFZp781I12161

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase A regulatory subunit binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein phosphatase 1 binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cortical actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in renal water homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    A-kinase anchor protein 11
    Names
    A kinase (PRKA) anchor protein 11
    A-kinase anchor protein 220 kDa
    A-kinase anchoring protein, 220kDa
    a kinase anchor protein 220 kDa
    protein kinase A anchoring protein 11
    protein phosphatase 1, regulatory subunit 44

    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.

    mRNA and Protein(s)

    1. NM_016248.4 → NP_057332.1  A-kinase anchor protein 11

      See identical proteins and their annotated locations for NP_057332.1

      Status: REVIEWED

      Source sequence(s)
      AF176555, AL136527, BE670178, BE694434, DA780016
      Consensus CDS
      CCDS9383.1
      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4
      Related
      ENSP00000025301.2, ENST00000025301.4
      Conserved Domains (1) summary
      cl14906
      Location:1804 → 1900
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      42271477..42323261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534904.2 → XP_011533206.1  A-kinase anchor protein 11 isoform X1

      See identical proteins and their annotated locations for XP_011533206.1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4
      Conserved Domains (1) summary
      cl14906
      Location:1804 → 1900
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    2. XM_047430073.1 → XP_047286029.1  A-kinase anchor protein 11 isoform X2

    3. XM_047430077.1 → XP_047286033.1  A-kinase anchor protein 11 isoform X3

    4. XM_011534906.3 → XP_011533208.1  A-kinase anchor protein 11 isoform X1

      See identical proteins and their annotated locations for XP_011533208.1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4
      Conserved Domains (1) summary
      cl14906
      Location:1804 → 1900
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    5. XM_047430075.1 → XP_047286031.1  A-kinase anchor protein 11 isoform X2

    6. XM_017020383.2 → XP_016875872.1  A-kinase anchor protein 11 isoform X3

      Conserved Domains (1) summary
      cl14906
      Location:1759 → 1855
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    7. XM_011534903.3 → XP_011533205.1  A-kinase anchor protein 11 isoform X1

      See identical proteins and their annotated locations for XP_011533205.1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4
      Conserved Domains (1) summary
      cl14906
      Location:1804 → 1900
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    8. XM_047430072.1 → XP_047286028.1  A-kinase anchor protein 11 isoform X2

    9. XM_047430076.1 → XP_047286032.1  A-kinase anchor protein 11 isoform X3

    10. XM_047430079.1 → XP_047286035.1  A-kinase anchor protein 11 isoform X4

    11. XM_017020381.3 → XP_016875870.1  A-kinase anchor protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4
      Conserved Domains (1) summary
      cl14906
      Location:1804 → 1900
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    12. XM_005266249.4 → XP_005266306.1  A-kinase anchor protein 11 isoform X5

    13. XM_005266247.2 → XP_005266304.1  A-kinase anchor protein 11 isoform X2

      Conserved Domains (1) summary
      cl14906
      Location:1655 → 1872
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    14. XM_005266250.4 → XP_005266307.1  A-kinase anchor protein 11 isoform X6

    15. XM_005266248.4 → XP_005266305.1  A-kinase anchor protein 11 isoform X3

      Conserved Domains (1) summary
      cl14906
      Location:1759 → 1855
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    16. XM_047430078.1 → XP_047286034.1  A-kinase anchor protein 11 isoform X4

    17. XM_011534905.2 → XP_011533207.1  A-kinase anchor protein 11 isoform X1

      See identical proteins and their annotated locations for XP_011533207.1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4
      Conserved Domains (1) summary
      cl14906
      Location:1804 → 1900
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    18. XM_047430074.1 → XP_047286030.1  A-kinase anchor protein 11 isoform X2

    19. XM_017020382.2 → XP_016875871.1  A-kinase anchor protein 11 isoform X3

      Conserved Domains (1) summary
      cl14906
      Location:1759 → 1855
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    20. XM_047430080.1 → XP_047286036.1  A-kinase anchor protein 11 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      41491099..41543005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374067.1 → XP_054230042.1  A-kinase anchor protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4

    2. XM_054374066.1 → XP_054230041.1  A-kinase anchor protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4

    3. XM_054374072.1 → XP_054230047.1  A-kinase anchor protein 11 isoform X2

    4. XM_054374070.1 → XP_054230045.1  A-kinase anchor protein 11 isoform X2

    5. XM_054374076.1 → XP_054230051.1  A-kinase anchor protein 11 isoform X3

    6. XM_054374077.1 → XP_054230052.1  A-kinase anchor protein 11 isoform X3

    7. XM_054374063.1 → XP_054230038.1  A-kinase anchor protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4

    8. XM_054374069.1 → XP_054230044.1  A-kinase anchor protein 11 isoform X2

    9. XM_054374079.1 → XP_054230054.1  A-kinase anchor protein 11 isoform X4

    10. XM_054374074.1 → XP_054230049.1  A-kinase anchor protein 11 isoform X3

    11. XM_054374081.1 → XP_054230056.1  A-kinase anchor protein 11 isoform X5

    12. XM_054374068.1 → XP_054230043.1  A-kinase anchor protein 11 isoform X2

    13. XM_054374082.1 → XP_054230057.1  A-kinase anchor protein 11 isoform X6

    14. XM_054374073.1 → XP_054230048.1  A-kinase anchor protein 11 isoform X3

    15. XM_054374078.1 → XP_054230053.1  A-kinase anchor protein 11 isoform X4

    16. XM_054374064.1 → XP_054230039.1  A-kinase anchor protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4

    17. XM_054374071.1 → XP_054230046.1  A-kinase anchor protein 11 isoform X2

    18. XM_054374075.1 → XP_054230050.1  A-kinase anchor protein 11 isoform X3

    19. XM_054374080.1 → XP_054230055.1  A-kinase anchor protein 11 isoform X4

    20. XM_054374065.1 → XP_054230040.1  A-kinase anchor protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O75124, Q9NUK7, Q9UKA4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_144490.1: Suppressed sequence

      Description
      NM_144490.1: This RefSeq was permanently suppressed because its 3' end is primarily intronic sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKA4.1 GenPept UniProtKB/Swiss-Prot:Q9UKA4

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