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    AKAP6 A-kinase anchoring protein 6 [ Homo sapiens (human) ]

    Gene ID: 9472, updated on 9-Dec-2024

    Summary

    Official Symbol
    AKAP6provided by HGNC
    Official Full Name
    A-kinase anchoring protein 6provided by HGNC
    Primary source
    HGNC:HGNC:376
    See related
    Ensembl:ENSG00000151320 MIM:604691; AllianceGenome:HGNC:376
    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
    ADAP6; PRKA6; mAKAP; ADAP100; AKAP100
    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 highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 9.8), heart (RPKM 7.6) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AKAP6 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (32329298..32837684)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (26401181..27034449)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (32798504..33306890)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene endogenous retrovirus group FRD member 1, envelope pseudogene Neighboring gene MPRA-validated peak2134 silencer Neighboring gene KIAA1143 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12143 Neighboring gene Sharpr-MPRA regulatory region 7175 Neighboring gene Sharpr-MPRA regulatory region 11725 Neighboring gene RNA, 7SL, cytoplasmic 660, pseudogene Neighboring gene MT-CO1 pseudogene 2 Neighboring gene uncharacterized LOC124903298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8241 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:33281639-33282368 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:33282369-33283098 Neighboring gene neuronal PAS domain protein 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:33603289-33603866 Neighboring gene NANOG hESC enhancer GRCh37_chr14:33922151-33922707 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:33944722-33945332 Neighboring gene NANOG hESC enhancer GRCh37_chr14:33946898-33947463 Neighboring gene uncharacterized LOC124903299 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:34021175-34021810 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:34033742-34034271 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:34081250-34081760 Neighboring gene uncharacterized LOC124903300

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
    EBI GWAS Catalog
    The genetic architecture of economic and political preferences.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0311, MGC165020

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenylate cyclase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables molecular adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein kinase A binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein kinase A regulatory subunit binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein-membrane adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables transmembrane transporter binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in action potential IC
    Inferred by Curator
    more info
    PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to cAMP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cytokine stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of calcineurin-NFAT signaling cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of cell growth involved in cardiac muscle cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of delayed rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of release of sequestered calcium ion into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein targeting NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cAMP/PKA signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of membrane repolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IC
    Inferred by Curator
    more info
     
    Component Evidence Code Pubs
    located_in T-tubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    part_of calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in caveola ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in junctional sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    A-kinase anchor protein 6
    Names
    A kinase (PRKA) anchor protein 6
    A-kinase anchor protein 100 kDa
    AKAP 100
    AKAP-6
    protein kinase A anchoring protein 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_004274.5NP_004265.3  A-kinase anchor protein 6

      See identical proteins and their annotated locations for NP_004265.3

      Status: REVIEWED

      Source sequence(s)
      AL049781, AL117672, AL132988, AL136298
      Consensus CDS
      CCDS9644.1
      UniProtKB/Swiss-Prot
      A7E242, A7E2D4, O15028, Q13023
      Related
      ENSP00000280979.4, ENST00000280979.9
      Conserved Domains (2) summary
      cd00176
      Location:9611189
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl02488
      Location:784887
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      32329298..32837684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431969.1XP_047287925.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/Swiss-Prot
      A7E242, A7E2D4, O15028, Q13023
    2. XM_047431966.1XP_047287922.1  A-kinase anchor protein 6 isoform X1

    3. XM_024449755.2XP_024305523.1  A-kinase anchor protein 6 isoform X1

      Conserved Domains (2) summary
      cd00176
      Location:9621190
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl02488
      Location:784888
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    4. XM_047431970.1XP_047287926.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/Swiss-Prot
      A7E242, A7E2D4, O15028, Q13023
    5. XM_024449754.2XP_024305522.1  A-kinase anchor protein 6 isoform X1

      Conserved Domains (2) summary
      cd00176
      Location:9621190
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl02488
      Location:784888
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    6. XM_047431967.1XP_047287923.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/Swiss-Prot
      A7E242, A7E2D4, O15028, Q13023
    7. XM_017021808.3XP_016877297.1  A-kinase anchor protein 6 isoform X1

      Conserved Domains (2) summary
      cd00176
      Location:9621190
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl02488
      Location:784888
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    8. XM_024449757.2XP_024305525.1  A-kinase anchor protein 6 isoform X1

      Conserved Domains (2) summary
      cd00176
      Location:9621190
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl02488
      Location:784888
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    9. XM_047431968.1XP_047287924.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/Swiss-Prot
      A7E242, A7E2D4, O15028, Q13023
    10. XM_024449756.2XP_024305524.1  A-kinase anchor protein 6 isoform X1

      Conserved Domains (2) summary
      cd00176
      Location:9621190
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl02488
      Location:784888
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    11. XM_047431971.1XP_047287927.1  A-kinase anchor protein 6 isoform X3

    12. XM_011537378.4XP_011535680.1  A-kinase anchor protein 6 isoform X4

      Conserved Domains (1) summary
      cd00176
      Location:57285
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    13. XM_011537379.4XP_011535681.1  A-kinase anchor protein 6 isoform X5

      See identical proteins and their annotated locations for XP_011535681.1

      Conserved Domains (1) summary
      cd00176
      Location:34262
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    14. XM_011537383.4XP_011535685.1  A-kinase anchor protein 6 isoform X6

      Conserved Domains (1) summary
      cl02488
      Location:10184
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      26401181..27034449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377073.1XP_054233048.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/TrEMBL
      B2RP22
    2. XM_054377066.1XP_054233041.1  A-kinase anchor protein 6 isoform X1

    3. XM_054377067.1XP_054233042.1  A-kinase anchor protein 6 isoform X1

    4. XM_054377068.1XP_054233043.1  A-kinase anchor protein 6 isoform X1

    5. XM_054377074.1XP_054233049.1  A-kinase anchor protein 6 isoform X1

    6. XM_054377078.1XP_054233053.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/TrEMBL
      B2RP22
    7. XM_054377077.1XP_054233052.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/TrEMBL
      B2RP22
    8. XM_054377069.1XP_054233044.1  A-kinase anchor protein 6 isoform X1

    9. XM_054377075.1XP_054233050.1  A-kinase anchor protein 6 isoform X1

    10. XM_054377082.1XP_054233057.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/TrEMBL
      B2RP22
    11. XM_054377079.1XP_054233054.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/TrEMBL
      B2RP22
    12. XM_054377076.1XP_054233051.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/TrEMBL
      B2RP22
    13. XM_054377081.1XP_054233056.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/TrEMBL
      B2RP22
    14. XM_054377072.1XP_054233047.1  A-kinase anchor protein 6 isoform X1

    15. XM_054377071.1XP_054233046.1  A-kinase anchor protein 6 isoform X1

    16. XM_054377080.1XP_054233055.1  A-kinase anchor protein 6 isoform X2

      UniProtKB/TrEMBL
      B2RP22
    17. XM_054377070.1XP_054233045.1  A-kinase anchor protein 6 isoform X1

    18. XM_054377083.1XP_054233058.1  A-kinase anchor protein 6 isoform X3

    19. XM_054377085.1XP_054233060.1  A-kinase anchor protein 6 isoform X4

    20. XM_054377086.1XP_054233061.1  A-kinase anchor protein 6 isoform X5

    21. XM_054377084.1XP_054233059.1  A-kinase anchor protein 6 isoform X4

    22. XM_054377087.1XP_054233062.1  A-kinase anchor protein 6 isoform X6