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

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AKAP13 Enhances CREB1 Activation by FSH in Granulosa Cells.
Title: AKAP13 Enhances CREB1 Activation by FSH in Granulosa Cells.
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.
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.
AKAP13 couples GPCR signaling to mTORC1 inhibition.
Title: AKAP13 couples GPCR signaling to mTORC1 inhibition.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH122882 (e-PCR)
- UniSTS:135179

SHGC-58426 (e-PCR)
- UniSTS:26131

D15S932 (e-PCR)
- UniSTS:59157

SHGC-146217 (e-PCR)
- UniSTS:172566

RH70067 (e-PCR)
- UniSTS:42010

RH92649 (e-PCR)
- UniSTS:87594

AU048745 (e-PCR)
- UniSTS:145195

RH92626 (e-PCR)
- UniSTS:88110

SHGC-143312 (e-PCR)
- UniSTS:171848

SHGC-53698 (e-PCR)
- UniSTS:16972

168XA11 (e-PCR)
- UniSTS:8272

SHGC-148480 (e-PCR)
- UniSTS:182877

SHGC-149380 (e-PCR)
- UniSTS:182879

G63680 (e-PCR)
- UniSTS:140642

SHGC-58194 (e-PCR)
- UniSTS:94310

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-145225 (e-PCR)
- UniSTS:174455

AKAP13__4278 (e-PCR)
- UniSTS:462723

RH47095 (e-PCR)
- UniSTS:75934

WI-16595 (e-PCR)
- UniSTS:54961

D15S999 (e-PCR), detects polymorphism
- UniSTS:15026

L18441 (e-PCR)
- UniSTS:71348

RH119267 (e-PCR)
- UniSTS:133829

STS-H98167 (e-PCR)
- UniSTS:6602

G20767 (e-PCR)
- UniSTS:61395

A006F31 (e-PCR)
- UniSTS:61396

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 more info	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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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)

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)
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)
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

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

85380603..85749358

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_032162.1: Suppressed sequence

Description

NM_032162.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
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.