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    AKAP13 A-kinase anchoring protein 13 [ Homo sapiens (human) ]

    Gene ID: 11214, updated on 5-Dec-2021

    Summary

    Official Symbol
    AKAP13provided by HGNC
    Official Full Name
    A-kinase anchoring protein 13provided by HGNC
    Primary source
    HGNC:HGNC:371
    See related
    Ensembl:ENSG00000170776 MIM:604686
    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
    BRX; LBC; p47; HA-3; Ht31; c-lbc; PRKA13; AKAP-13; AKAP-Lbc; ARHGEF13; PROTO-LB; PROTO-LBC
    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. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in gall bladder (RPKM 16.9), lung (RPKM 16.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See AKAP13 in Genome Data Viewer
    Location:
    15q25.3
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (85380603..85749358)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85923834..86292589)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ADAMTS7 pseudogene 4 Neighboring gene uncharacterized LOC102724393 Neighboring gene Sharpr-MPRA regulatory region 6429 Neighboring gene microRNA 7706 Neighboring gene RNA, U7 small nuclear 79 pseudogene Neighboring gene fatty acid binding protein 5 pseudogene 9 Neighboring gene RNA, U6 small nuclear 1280, pseudogene Neighboring gene long intergenic non-protein coding RNA 2883 Neighboring gene kelch like family member 25 Neighboring gene microRNA 1276

    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
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    GeneReviews: Not available
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
    GeneReviews: Not available
    New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
    GeneReviews: Not available

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of A kinase (PRKA) anchor protein 13 (AKAP13) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 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

    Homology

    Clone Names

    • FLJ11952, FLJ43341

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MAP-kinase scaffold activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables MAP-kinase scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cAMP-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase A binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adrenergic receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in adrenergic receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell growth involved in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nuclear export IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of MAP kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of sarcomere organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    colocalizes_with actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    A-kinase anchor protein 13
    Names
    A kinase (PRKA) anchor protein 13
    LBC oncogene
    breast cancer nuclear receptor-binding auxiliary protein
    guanine nucleotide exchange factor Lbc
    human thyroid-anchoring protein 31
    lymphoid blast crisis oncogene
    non-oncogenic Rho GTPase-specific GTP exchange factor
    protein kinase A-anchoring protein 13

    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_001270546.1NP_001257475.1  A-kinase anchor protein 13 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the use of an alternate promoter and has multiple differences in the 5' UTR and coding region, as compared to variant 1. The resulting protein (isoform 4) uses a distinct start codon and has a shorter N-terminus but identical C-terminus, compared to isoform 1.
      Source sequence(s)
      AC021739, AC087286, AF127481, AK309805, AK315885, CA306665
      Consensus CDS
      CCDS73778.1
      UniProtKB/Swiss-Prot
      Q12802
      UniProtKB/TrEMBL
      A8MYJ1, B0AZU4
      Related
      ENSP00000378018.3, ENST00000394510.6
      Conserved Domains (6) summary
      cd00160
      Location:616810
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13392
      Location:853955
      PH_AKAP13; A-kinase anchoring protein 13 Pleckstrin homology (PH) domain
      pfam00169
      Location:853953
      PH; PH domain
      pfam02050
      Location:11921301
      FliJ; Flagellar FliJ protein
      cl00040
      Location:414460
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cl24005
      Location:12491302
      DUF2570; Protein of unknown function (DUF2570)
    2. NM_006738.6NP_006729.4  A-kinase anchor protein 13 isoform 1

      See identical proteins and their annotated locations for NP_006729.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC021739, AC087286, AC104046, AF406992, CA306665
      Consensus CDS
      CCDS32320.1
      UniProtKB/Swiss-Prot
      Q12802
      Related
      ENSP00000354718.2, ENST00000361243.6
      Conserved Domains (5) summary
      cd00160
      Location:19992193
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13392
      Location:22362338
      PH_AKAP13; A-kinase anchoring protein 13 Pleckstrin homology (PH) domain
      pfam00169
      Location:22362336
      PH; PH domain
      cl00040
      Location:17961842
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cl23720
      Location:26302700
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    3. NM_007200.5NP_009131.2  A-kinase anchor protein 13 isoform 2

      See identical proteins and their annotated locations for NP_009131.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an internal alternate in-frame exon in the coding region, as compared to variant 1. Isoform 2 differs from isoform 1 in a small middle region.
      Source sequence(s)
      AC021739, AC087286, AC104046, AC110592, AF387101, CA306665
      Consensus CDS
      CCDS32319.1
      UniProtKB/Swiss-Prot
      Q12802
      Related
      ENSP00000378026.3, ENST00000394518.7
      Conserved Domains (5) summary
      cd00160
      Location:19952189
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd13392
      Location:22322334
      PH_AKAP13; A-kinase anchoring protein 13 Pleckstrin homology (PH) domain
      pfam00169
      Location:22322332
      PH; PH domain
      cl00040
      Location:17921838
      C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
      cl23720
      Location:26262696
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      85380603..85749358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032162.1: Suppressed sequence

      Description
      NM_032162.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    2. NM_144767.3: Suppressed sequence

      Description
      NM_144767.3: This RefSeq was suppressed because currently there is insufficient support for the transcript and the protein.
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