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

Gene ID: 11214, updated on 1-Mar-2024

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; 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
NEW
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Try the new Transcript table

Genomic context

See AKAP13 in Genome Data Viewer
Location:
15q25.3
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (85380603..85749358)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (83132647..83501376)
105.20220307 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

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
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

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

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 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
 
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 MAPK cascade 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 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

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/TrEMBL
    A0A087WTD7, A8MYJ1
    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/TrEMBL
    A0A2X0SF55
    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, Q14572, Q59FP6, Q86W90, Q8WXQ6, Q96JP6, Q96P79, Q9Y5T0, Q9Y5T6
    UniProtKB/TrEMBL
    A0A2X0SF55
    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: 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_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.