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

    Gene ID: 11214, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:371
    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
    mouse all
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    Genomic context

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    See AKAP13 in Genome Data Viewer
    Location:
    15q25.3
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (85380603..85749358)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (83132647..83501376)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85923834..86292589)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85802852-85803352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85803353-85803853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85805463-85806020 Neighboring gene ADAMTS7 pseudogene 4 Neighboring gene dynamin 1 pseudogene 45 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10008 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10010 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:85880057-85881256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6779 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:85924371-85924538 Neighboring gene uncharacterized LOC124903546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:85956328-85957527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85958383-85958882 Neighboring gene microRNA 7706 Neighboring gene RNA, U7 small nuclear 79 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85977313-85978117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10012 Neighboring gene fatty acid binding protein 5 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85996962-85997509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85997510-85998056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10017 Neighboring gene Sharpr-MPRA regulatory region 6632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42228 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42240 Neighboring gene NANOG hESC enhancer GRCh37_chr15:86171542-86172083 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42264 Neighboring gene Sharpr-MPRA regulatory region 7683 Neighboring gene RNA, U6 small nuclear 1280, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42301 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10022 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_42385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10024 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:86269598-86270797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:86303833-86304334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86305151-86305884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86306619-86307352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86307353-86308085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86311017-86311791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86311792-86312565 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:86312566-86313340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:86313341-86314113 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

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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. The minor histocompatibility antigen HA-3 arises from differential proteasome-mediated cleavage of the lymphoid blast crisis (Lbc) oncoprotein. Spierings E, et al. Blood, 2003 Jul 15. PMID 12663445
    2. The mRNA and protein expression of A-kinase anchor proteins 13 in human colorectal cancer. Hu JK, et al. Clin Exp Med, 2010 Mar. PMID 19779964
    3. Expression of the proto-oncoprotein breast cancer nuclear receptor auxiliary factor (Brx) is altered in eutopic endometrium of women with endometriosis. Hearns-Stokes R, et al. Fertil Steril, 2006 Jan. PMID 16412732
    4. Resonance assignments of the human AKAP13-PH domain and stabilizing DH helix. Sugawara M, et al. Biomol NMR Assign, 2009 Dec. PMID 19888694
    5. AKAP13 couples GPCR signaling to mTORC1 inhibition. Zhang S, et al. PLoS Genet, 2021 Oct. PMID 34673774, Free PMC Article

    See all (132) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AKAP13 Enhances CREB1 Activation by FSH in Granulosa Cells.
      Title: AKAP13 Enhances CREB1 Activation by FSH in Granulosa Cells.
    2. The role of Hippo pathway signaling and A-kinase anchoring protein 13 in primordial follicle activation and inhibition.
      Title: The role of Hippo pathway signaling and A-kinase anchoring protein 13 in primordial follicle activation and inhibition.
    3. CD47 promotes T-cell lymphoma metastasis by up-regulating AKAP13-mediated RhoA activation.
      Title: CD47 promotes T-cell lymphoma metastasis by up-regulating AKAP13-mediated RhoA activation.
    4. AKAP13 couples GPCR signaling to mTORC1 inhibition.
      Title: AKAP13 couples GPCR signaling to mTORC1 inhibition.
    5. Prognostic value of AKAP13 methylation and expression in lung squamous cell carcinoma.
      Title: Prognostic value of AKAP13 methylation and expression in lung squamous cell carcinoma.
    6. Identification of novel splicing patterns and differential gene expression in RE+/FECD- samples provides new insights and more relevant gene targets that may be protective against FECD disease in vulnerable patients with TCF4 CTG TNR expansions.
      Title: Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
    7. Study of fibroid samples from patients and immortalized uterine fibroid cell lines and COS-7 cells suggest an intersection of mechanical signaling and progesterone receptor signaling involving AKAP13 through ERK.
      Title: A-Kinase Anchoring Protein 13 (AKAP13) Augments Progesterone Signaling in Uterine Fibroid Cells.
    8. We showed that AKAP13 is expressed in the alveolar epithelium and lymphoid follicles from patients with Idiopathic pulmonary fibrosis, and AKAP13 mRNA expression was 1.42-times higher in lung tissue from patients with Idiopathic pulmonary fibrosis than that in lung tissue from controls.
      Title: Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study.
    9. AKAP-Lbc emerges as a coordinator of signals that protect cardiomyocytes against the toxic effects of DOX.
      Title: AKAP-Lbc mediates protection against doxorubicin-induced cardiomyocyte toxicity.
    10. evaluation of MAGT1 and AKAP13 expression in clinical hepatocellular carcinoma tissues by immunohistochemistry suggested that both proteins were strongly expressed in tumor tissues with significantly higher average immunoreactive scores of Remmele and Stegner (IRS) than in non-tumor tissues
      Title: Up-regulation of AKAP13 and MAGT1 on cytoplasmic membrane in progressive hepatocellular carcinoma: a novel target for prognosis.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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 association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations
    EBI GWAS Catalog
    New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
    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

    HIV-1 interactions

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    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

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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

    • 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
    		  
    enables MAP-kinase scaffold activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adrenergic receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 heart development ISS
    Inferred from Sequence or Structural Similarity
    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 positive regulation of canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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
    		  

    General protein information

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    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)

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    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_001270546.1 → NP_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/TrEMBL
      A0A087WTD7, A8MYJ1
      Related
      ENSP00000378018.3, ENST00000394510.6
      Conserved Domains (6) summary
      cd00160
      Location:616 → 810
      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:853 → 955
      PH_AKAP13; A-kinase anchoring protein 13 Pleckstrin homology (PH) domain
      pfam00169
      Location:853 → 953
      PH; PH domain
      pfam02050
      Location:1192 → 1301
      FliJ; Flagellar FliJ protein
      cl00040
      Location:414 → 460
      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:1249 → 1302
      DUF2570; Protein of unknown function (DUF2570)

    2. NM_006738.6 → NP_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/TrEMBL
      A0A2X0SF55
      Related
      ENSP00000354718.2, ENST00000361243.6
      Conserved Domains (5) summary
      cd00160
      Location:1999 → 2193
      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:2236 → 2338
      PH_AKAP13; A-kinase anchoring protein 13 Pleckstrin homology (PH) domain
      pfam00169
      Location:2236 → 2336
      PH; PH domain
      cl00040
      Location:1796 → 1842
      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:2630 → 2700
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    3. NM_007200.5 → NP_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, Q14572, Q59FP6, Q86W90, Q8WXQ6, Q96JP6, Q96P79, Q9Y5T0, Q9Y5T6
      UniProtKB/TrEMBL
      A0A2X0SF55
      Related
      ENSP00000378026.3, ENST00000394518.7
      Conserved Domains (5) summary
      cd00160
      Location:1995 → 2189
      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:2232 → 2334
      PH_AKAP13; A-kinase anchoring protein 13 Pleckstrin homology (PH) domain
      pfam00169
      Location:2232 → 2332
      PH; PH domain
      cl00040
      Location:1792 → 1838
      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:2626 → 2696
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      83132647..83501376
      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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12802.2 GenPept UniProtKB/Swiss-Prot:Q12802

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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