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

Gene ID: 11214, updated on 4-May-2020

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

Genomic context

See AKAP13 in Genome Data Viewer
Location:
15q25.3
Exon count:
39
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (85380603..85749358)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85923818..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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • FLJ11952, FLJ43341

Gene Ontology Provided by GOA

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

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
    ENSP00000378026.2, ENST00000394518.6
    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.

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_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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