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    AKAP9 A-kinase anchoring protein 9 [ Homo sapiens (human) ]

    Gene ID: 10142, updated on 7-Apr-2024

    Summary

    Official Symbol
    AKAP9provided by HGNC
    Official Full Name
    A-kinase anchoring protein 9provided by HGNC
    Primary source
    HGNC:HGNC:379
    See related
    Ensembl:ENSG00000127914 MIM:604001; AllianceGenome:HGNC:379
    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
    LQT11; PRKA9; AKAP-9; CG-NAP; YOTIAO; AKAP350; AKAP450; PPP1R45; HYPERION; MU-RMS-40.16A
    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. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]
    Expression
    Ubiquitous expression in colon (RPKM 12.3), small intestine (RPKM 8.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    7q21.2
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (91940862..92110673)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93182145..93351954)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91570176..91739987)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267986 Neighboring gene uncharacterized LOC124901698 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:91569717-91570278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18366 Neighboring gene Sharpr-MPRA regulatory region 2641 Neighboring gene cytochrome P450 family 51 subfamily A member 1 Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:91763126-91763952 and GRCh37_chr7:91763953-91764779 Neighboring gene MPRA-validated peak6634 silencer Neighboring gene MPRA-validated peak6635 silencer Neighboring gene MPRA-validated peak6636 silencer Neighboring gene CYP51A1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18367 Neighboring gene leucine rich repeats and death domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18368

    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

    Associated conditions

    Description Tests
    Long QT syndrome 11
    MedGen: C2678483 OMIM: 611820 GeneReviews: Long QT Syndrome Overview
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with A kinase (PRKA) anchor protein 9 (AKAP9) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0803

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables potassium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A regulatory subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase A regulatory subunit binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase A regulatory subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to cAMP IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in maintenance of centrosome location IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in maintenance of centrosome location IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microtubule nucleation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of potassium ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of potassium ion transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein-containing complex localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of Golgi organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Golgi stack IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi stack IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cis-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendritic branch IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extrinsic component of postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    part_of potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    A-kinase anchor protein 9
    Names
    A kinase (PRKA) anchor protein (yotiao) 9
    A kinase (PRKA) anchor protein 9
    A-kinase anchor protein 350 kDa
    A-kinase anchor protein 450 kDa
    AKAP 120-like protein
    AKAP9-BRAF fusion protein
    centrosome- and Golgi-localized PKN-associated protein
    centrosome- and golgi-localized protein kinase N-associated protein
    kinase N-associated protein
    protein hyperion
    protein kinase A anchoring protein 9
    protein phosphatase 1, regulatory subunit 45
    protein yotiao

    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.

    Genomic

    1. NG_011623.1 RefSeqGene

      Range
      5001..174799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_331

    mRNA and Protein(s)

    1. NM_001379277.1NP_001366206.1  A-kinase anchor protein 9 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC000120, AC004013
      Consensus CDS
      CCDS94142.1
      UniProtKB/TrEMBL
      A0A2R8Y590
      Related
      ENSP00000494626.2, ENST00000491695.2
      Conserved Domains (4) summary
      COG1196
      Location:231584
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:347968
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam17380
      Location:62372
      DUF5401; Family of unknown function (DUF5401)
      pfam10495
      Location:19192000
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    2. NM_005751.5NP_005742.4  A-kinase anchor protein 9 isoform 2

      See identical proteins and their annotated locations for NP_005742.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AC000066, AC000120, AC003086, AC004013
      Consensus CDS
      CCDS5622.1
      UniProtKB/Swiss-Prot
      A4D1F0, A4D1F2, A4D1F4, O14869, O43355, O94895, Q75N20, Q99996, Q9UQH3, Q9UQQ4, Q9Y6B8, Q9Y6Y2
      UniProtKB/TrEMBL
      A0A7P0T928
      Related
      ENSP00000348573.3, ENST00000356239.8
      Conserved Domains (2) summary
      pfam10495
      Location:37043785
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
      cl25732
      Location:277989
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_147185.3NP_671714.1  A-kinase anchor protein 9 isoform 3

      See identical proteins and their annotated locations for NP_671714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site at the end of an exon compared to variant 2. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 2.
      Source sequence(s)
      AC003086, AF083037, AJ131693, AY528715, BC015533, CR997756
      Consensus CDS
      CCDS94141.1
      UniProtKB/TrEMBL
      A0A7P0T928
      Related
      ENSP00000505204.1, ENST00000680766.1
      Conserved Domains (5) summary
      COG1196
      Location:277989
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam02463
      Location:21922866
      SMC_N; RecF/RecN/SMC N terminal domain
      pfam10495
      Location:36963777
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
      cl19219
      Location:21102217
      DUF342; Protein of unknown function (DUF342)
      cl19548
      Location:324612
      DUF515; Protein of unknown function (DUF515)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      91940862..92110673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      93182145..93351954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_147166.1: Suppressed sequence

      Description
      NM_147166.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_147171.1: Suppressed sequence

      Description
      NM_147171.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.