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AKAP13 - A-kinase anchoring protein 13 Gene

Also Known as BRX; LBC; p47; HA-3; Ht31; c-lbc; PRKA13; AKAP-13; AKAP-Lbc; ARHGEF13; PROTO-LB; PROTO-LBC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11214

About AKAP13

Cytogenetic location: 15q25.3 Genomic coordinates (GRCh38): 15:85,380,603-85,749,358 (from NCBI)

This gene has 24 transcripts (splice variants) and 145 orthologues. Ubiquitous expression in gall bladder (RPKM 16.9), lung (RPKM 16.5) and 25 other tissues.

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]

AKAP13 Products (3)

mRNA	Protein	Name
NM_001270546.1	NP_001257475.1	A-kinase anchor protein 13 isoform 4
NM_006738.6	NP_006729.4	A-kinase anchor protein 13 isoform 1
NM_007200.5	NP_009131.2	A-kinase anchor protein 13 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables MAP-kinase scaffold activity	IDA IDA: Inferred from direct assay	21224381	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	11546812	GOA
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	23090968	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9627117	GOA
enables protein kinase A binding	IDA IDA: Inferred from direct assay	11546812	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	25186459	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	11546812	GOA
involved in adrenergic receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	21224381	GOA
involved in positive regulation of Rho protein signal transduction	IDA IDA: Inferred from direct assay	11546812	GOA
involved in positive regulation of Rho protein signal transduction	IMP IMP: Inferred from mutant phenotype	21224381	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	23090968	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell cortex	IDA IDA: Inferred from direct assay	11546812	GOA
colocalizes with cortical actin cytoskeleton	IDA IDA: Inferred from direct assay	11546812	GOA
located in cytosol	IDA IDA: Inferred from direct assay	11546812	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AKAP13 Protein Structure

RhoGEF

0
500
1000
1500
2000
2500
2813 a.a.

Protein Preferred Names	Protein Names
A-kinase anchor protein 13	A kinase (PRKA) anchor protein 13

AKAP13 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AKAP13	Q12802	ARHGEF18	Homo sapiens	Q6ZSZ5	Anti Tag CoIP	35271311
Intra	AKAP13	Q12802	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	AKAP13	Q12802	YWHAZ	Homo sapiens	P63104	Anti Tag CoIP	33961781
Intra	AKAP13	Q12802	YWHAB	Homo sapiens	P31946	CoIP	15324660
Intra	AKAP13	Q12802	YWHAB	Homo sapiens	P31946	Pull Down	15691829
Intra	AKAP13	Q12802	TGM2	Homo sapiens	P21980	Anti Bait CoIP	16301118
Intra	AKAP13	Q12802	TGM2	Homo sapiens	P21980	Y2H	16301118
Intra	AKAP13	Q12802	ESR1	Homo sapiens	P03372	Anti Bait CoIP	9627117
Intra	AKAP13	Q12802	ESR1	Homo sapiens	P03372	Y2H	9627117
Intra	AKAP13	Q12802	ESR1	Homo sapiens	P03372	Pull Down	9627117

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS00516	AKAP13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AKAP13	VGNC	VGNC:69767
Canis familiaris	AKAP13	VGNC	VGNC:37755
Bos taurus	AKAP13	VGNC	VGNC:97238
Rattus norvegicus	AKAP13	RGD	RGD:727893
Mus musculus	AKAP13	MGD	MGI:2676556
Felis catus	AKAP13	VGNC	VGNC:82456
Others	AKAP13	NCBI