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

Gene ID: 11215, updated on 28-Oct-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
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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. 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
  2. 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
  3. 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
  4. AKAP220 protein organizes signaling elements that impact cell migration. Logue JS, et al. J Biol Chem, 2011 Nov 11. PMID 21890631, Free PMC Article
  5. 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

See all (73) 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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