AKAP13 - A-kinase anchoring protein 13 Gene

中文名称：A-激酶锚定蛋白 13

种属: Homo sapiens

同用名: BRX; LBC; p47; HA-3; Ht31; c-lbc; PRKA13; AKAP-13; AKAP-Lbc; ARHGEF13; PROTO-LB; PROTO-LBC

基因 ID: 11214 | 基因类型: protein coding

关于 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.

功能概要

激酶锚定蛋白 (AKAP) 是一组结构多样的蛋白质，它们具有与蛋白激酶 A (PKA) 的调节亚基结合并将全酶限制在细胞内离散位置的共同功能。该基因编码 AKAP 家族的一个成员。该基因的可变剪接导致编码不同异构体的多个转录变体，这些异构体包含 c 末端 dbl 致癌基因同源 (DH) 和 pleckstrin 同源 (PH) 结构域。 DH 结构域与小 GTP 结合蛋白 Rho/Rac 家族的鸟嘌呤核苷酸交换激活有关，导致无活性 GTP 酶转化为能够转导信号的活性形式。 PH 域具有多种功能。因此，这些亚型充当支架蛋白以协调 Rho 信号通路，充当蛋白激酶 A 锚定蛋白，此外还增强雌激素受体 α 和 β 的配体依赖性活性。[RefSeq 提供，2012 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables MAP-kinase scaffold activity	IDA IDA: 通过直接分析推断	21224381	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: 通过直接分析推断	11546812	GOA
enables molecular adaptor activity	IDA IDA: 通过直接分析推断	23090968	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9627117	GOA
enables protein kinase A binding	IDA IDA: 通过直接分析推断	11546812	GOA
enables small GTPase binding	IPI IPI: 通过物理相互作用推断	25186459	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in G protein-coupled receptor signaling pathway	IDA IDA: 通过直接分析推断	11546812	GOA
involved in adrenergic receptor signaling pathway	IMP IMP: 通过突变表型推断	21224381	GOA
involved in positive regulation of Rho protein signal transduction	IDA IDA: 通过直接分析推断	11546812	GOA
involved in positive regulation of Rho protein signal transduction	IMP IMP: 通过突变表型推断	21224381	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IMP IMP: 通过突变表型推断	23090968	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell cortex	IDA IDA: 通过直接分析推断	11546812	GOA
colocalizes with cortical actin cytoskeleton	IDA IDA: 通过直接分析推断	11546812	GOA
located in cytosol	IDA IDA: 通过直接分析推断	11546812	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

AKAP13 蛋白结构

RhoGEF

0
500
1000
1500
2000
2500
2813 a.a.

蛋白主名

其他名称

A-kinase anchor protein 13

A kinase (PRKA) anchor protein 13

AKAP13 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	AKAP13	Q12802	ARHGEF18	Homo sapiens	Q6ZSZ5	Anti Tag CoIP	35271311
种属内	AKAP13	Q12802	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
种属内	AKAP13	Q12802	YWHAZ	Homo sapiens	P63104	Anti Tag CoIP	33961781
种属内	AKAP13	Q12802	YWHAB	Homo sapiens	P31946	CoIP	15324660
种属内	AKAP13	Q12802	YWHAB	Homo sapiens	P31946	Pull Down	15691829
种属内	AKAP13	Q12802	TGM2	Homo sapiens	P21980	Anti Bait CoIP	16301118
种属内	AKAP13	Q12802	TGM2	Homo sapiens	P21980	Y2H	16301118
种属内	AKAP13	Q12802	ESR1	Homo sapiens	P03372	Anti Bait CoIP	9627117
种属内	AKAP13	Q12802	ESR1	Homo sapiens	P03372	Y2H	9627117
种属内	AKAP13	Q12802	ESR1	Homo sapiens	P03372	Pull Down	9627117

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00516	AKAP13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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