AKAP9基因详情-基因数据库-基因云馆

AKAP9 (A-kinase anchoring protein 9)

symbol:: AKAP9
locus group:: protein-coding gene
location:: 7q21.2
gene_family:: A-kinase anchor proteins|Protein phosphatase 1 regulatory subunits
alias symbol:: KIAA0803|AKAP350|AKAP450|CG-NAP|YOTIAO|HYPERION|PRKA9|MU-RMS-40.16A|PPP1R45|LQT11
alias name:: A-kinase anchoring protein 450|A...
entrez id:: 10142
ensembl gene id:: ENSG00000127914
ucsc gene id:: uc003ulg.4
refseq accession:: NM_005751
hgnc_id:: HGNC:379
approved reserved:: 1999-09-16

7q21.2

AKAP9（A-激酶锚定蛋白9）是一种重要的支架蛋白，属于A-激酶锚定蛋白（AKAP）家族。AKAP家族的主要共性是能够通过与蛋白激酶A（PKA）的调节亚基结合，将PKA定位到特定的亚细胞区域，从而调控PKA的局部信号传导。AKAP9在细胞中广泛表达，尤其在神经元、心肌细胞和上皮细胞中发挥重要作用。它的主要功能包括调控细胞骨架动态、细胞极性、细胞周期以及信号转导通路。AKAP9通过与多种蛋白（如PKA、微管蛋白、肌动蛋白等）相互作用，参与中心体成熟、纤毛形成和细胞分裂等关键生物学过程。AKAP9的突变或表达异常与多种疾病相关，包括心律失常（如长QT综合征）、癌症（如乳腺癌和甲状腺癌）以及神经发育障碍（如自闭症谱系障碍）。突变可能导致AKAP9失去与PKA或其他结合蛋白的相互作用能力，从而破坏局部信号传导或细胞骨架组织。AKAP9过表达可能干扰正常的细胞周期调控，促进肿瘤发生；而表达降低则可能导致纤毛功能障碍或心肌电活动异常。在甲状腺癌中，AKAP9的基因重排（如AKAP9-BRAF融合）可激活MAPK信号通路，促进肿瘤生长。此外，AKAP9还参与调控其他基因的表达或活性，例如通过PKA依赖的磷酸化影响转录因子的功能。AKAP家族成员虽然功能各异，但都通过将PKA锚定到特定位置来精确控制cAMP/PKA信号通路的时空分布，这是该家族的共同特征。AKAP9因其多重功能而成为细胞生物学和疾病研究的重要靶点。

中文English

的A激酶锚蛋白（AKAPs）是一组具有结合于蛋白激酶A（PKA）的调节亚基和围全酶在细胞内的离散位置的共同功能结构不同的蛋白质。该基因编码的AKAP家族的一个成员。此基因的结果在至少两个亚型即定位于中心体和高尔基体，并与来自多个信号转导途径众多信号蛋白相互作用的选择性剪接。这些信号蛋白包括II型蛋白激酶A，丝氨酸/苏氨酸激酶蛋白激酶N，蛋白磷酸酶1，蛋白磷酸酶2A，蛋白激酶C-ε值和磷酸二酯酶4D3。 [由RefSeq的，2008年8月提供]

OMIM数据库中对AKAP9基因的介绍 Wikipedia数据库中对AKAP9基因的介绍

AKAP9基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MEDEERQKKL EAGKAKLAQF RQRKAQSDGQ SPSKKQKKKR
41KTSSSKHDVS AHHDLNIDQS QCNEMYINSS QRVESTVIPE
81
STIMRTLHS GEITSHEQGF SVELESEIST TADDCSSEVN
121GCSFVMRTGK PTNLLREEEF GVDDSYSEQG AQDSPTHLEM
161M
ESELAGKQ HEIEELNREL EEMRVTYGTE GLQQLQEFEA
201AIKQRDGIIT QLTANLQQAR REKDETMREF LELTEQSQKL
241QI
QFQQLQA SETLRNSTHS STAADLLQAK QQILTHQQQL
281EEQDHLLEDY QKKKEDFTMQ ISFLQEKIKV YEMEQDKKVE
321NSN
KEEIQE KETIIEELNT KIIEEEKKTL ELKDKLTTAD
361KLLGELQEQI VQKNQEIKNM KLELTNSKQK ERQSSEEIKQ
401LMGT
VEELQ KRNHKDSQFE TDIVQRMEQE TQRKLEQLRA
441ELDEMYGQQI VQMKQELIRQ HMAQMEEMKT RHKGEMENAL
481RSYSN
ITVN EDQIKLMNVA INELNIKLQD TNSQKEKLKE
521ELGLILEEKC ALQRQLEDLV EELSFSREQI QRARQTIAEQ
561ESKLNE
AHK SLSTVEDLKA EIVSASESRK ELELKHEAEV
601TNYKIKLEML EKEKNAVLDR MAESQEAELE RLRTQLLFSH
641EEELSKL
KE DLEIEHRINI EKLKDNLGIH YKQQIDGLQN
681EMSQKIETMQ FEKDNLITKQ NQLILEISKL KDLQQSLVNS
721KSEEMTLQ
I NELQKEIEIL RQEEKEKGTL EQEVQELQLK
761TELLEKQMKE KENDLQEKFA QLEAENSILK DEKKTLEDML
801KIHTPVSQE
 ERLIFLDSIK SKSKDSVWEK EIEILIEENE
841DLKQQCIQLN EEIEKQRNTF SFAEKNFEVN YQELQEEYAC
881LLKVKDDLED 
SKNKQELEY KSKLKALNEE LHLQRINPTT
921VKMKSSVFDE DKTFVAETLE MGEVVEKDTT ELMEKLEVTK
961REKLELSQRL S
DLSEQLKQ KHGEISFLNE EVKSLKQEKE
1001QVSLRCRELE IIINHNRAEN VQSCDTQVSS LLDGVVTMTS
1041RGAEGSVSKV NK
SFGEESK IMVEDKVSFE NMTVGEESKQ
1081EQLILDHLPS VTKESSLRAT QPSENDKLQK ELNVLKSEQN
1121DLRLQMEAQR ICL
SLVYST HVDQVREYME NEKDKALCSL
1161KEELIFAQEE KIKELQKIHQ LELQTMKTQE TGDEGKPLHL
1201LIGKLQKAVS EECS
YFLQT LCSVLGEYYT PALKCEVNAE
1241DKENSGDYIS ENEDPELQDY RYEVQDFQEN MHTLLNKVTE
1281EYNKLLVLQT RLSKI
WGQQ TDGMKLEFGE ENLPKEETEF
1321LSIHSQMTNL EDIDVNHKSK LSSLQDLEKT KLEEQVQELE
1361SLISSLQQQL KETEQN
YEA EIHCLQKRLQ AVSESTVPPS
1401LPVDSVVITE SDAQRTM

结构预测来自 AlphaFold DB（UniProt: Q99996），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

AKAP9基因的碱基突变：仅显示部分snp

rs415 rs416 rs417 rs418 rs4265 rs10399 rs12170 rs733957 rs756647 rs768276 rs926192 rs1063242 rs1063243 rs1122308 rs1543300 rs1544377 rs1859037

AKAP9基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

AGACAATTAGCCCAGAATGGA

TCAGGAGGCACATCTTCAG

ACTGACTGAAGAGAAGAATGAC

CCTGGAAGAATTATCTCTACCAG

TTACGATCCTGACAGAGCC

ATTGAGTAGTTGAACCTGACTG

CTCCTTATTCACTTGAACATGC

CTGTTGCTTCTTGTTTCTGTC

CAGAGAATACAAGAACAGGGTG

CAGATAACAAACTCCTTCTATCTGC

GATGACTGCAGTTCAGAGGA

TTCTTGTAACTGCTGCAGTC

CATGCAGGAATTCCAGAAGC

CGTGGTTGGCTCATTAAGG

AGGCAACGGAATTGTTAAGG

CTTAATCTCTTCTTGTCTGTTCCTG

CATGAGATTGAAGAGCTAAACAGAG

AATTCTTGTAACTGCTGCAGTC

CTTTGGACTGAATCAAGGTGC

TCTTGGTTCTCCATATAACTCCAG

尚未收录相关数据

AKAP9基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

AKAP9基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0003677

A0A087WX84 (UniProtKB)

IEA

GO:0003677

A0A0A0MRE9 (UniProtKB)

IEA

GO:0007165

A0A0A0MRE9 (UniProtKB)

IEA

GO:0032947

A0A0A0MRE9 (UniProtKB)

IEA

GO:0003677

A0A0A0MRF6 (UniProtKB)

IEA

GO:0007165

A0A0A0MRF6 (UniProtKB)

IEA

GO:0032947

A0A0A0MRF6 (UniProtKB)

IEA

GO:0007165

H0Y6Q0 (UniProtKB)

IEA

GO:0032947

H0Y6Q0 (UniProtKB)

IEA

GO:0007165

H7BYL6 (UniProtKB)

IEA

GO:0032947

H7BYL6 (UniProtKB)

IEA

GO:0016301

Q6PJH3 (UniProtKB)

IEA

GO:0016310

Q6PJH3 (UniProtKB)

IEA

GO:0000086

Q99996 (UniProtKB)

TAS

GO:0000165

Q99996 (UniProtKB)

TAS

GO:0003677

Q99996 (UniProtKB)

IEA

GO:0005088

Q99996 (UniProtKB)

TAS

GO:0005102

Q99996 (UniProtKB)

TAS

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005515

Q99996 (UniProtKB)

IPI

GO:0005794

Q99996 (UniProtKB)

IDA

GO:0005794

Q99996 (UniProtKB)

IDA

GO:0005795

Q99996 (UniProtKB)

IDA

GO:0005801

Q99996 (UniProtKB)

IDA

GO:0005813

Q99996 (UniProtKB)

IDA

GO:0005813

Q99996 (UniProtKB)

IDA

GO:0005813

Q99996 (UniProtKB)

IDA

GO:0005813

Q99996 (UniProtKB)

IDA

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005829

Q99996 (UniProtKB)

TAS

GO:0005856

Q99996 (UniProtKB)

TAS

GO:0006810

Q99996 (UniProtKB)

TAS

GO:0007020

Q99996 (UniProtKB)

IMP

GO:0007165

Q99996 (UniProtKB)

TAS

GO:0007268

Q99996 (UniProtKB)

TAS

GO:0008076

Q99996 (UniProtKB)

IDA

GO:0015459

Q99996 (UniProtKB)

IMP

GO:0032947

Q99996 (UniProtKB)

IDA

GO:0033138

Q99996 (UniProtKB)

IMP

GO:0034237

Q99996 (UniProtKB)

IPI

GO:0043231

Q99996 (UniProtKB)

IDA

GO:0043547

Q99996 (UniProtKB)

IEA

GO:0044325

Q99996 (UniProtKB)

IPI

GO:0044325

Q99996 (UniProtKB)

IPI

GO:0044325

Q99996 (UniProtKB)

IPI

GO:0060306

Q99996 (UniProtKB)

IMP

GO:0060307

Q99996 (UniProtKB)

IMP

GO:0061337

Q99996 (UniProtKB)

TAS

GO:0061337

Q99996 (UniProtKB)

TAS

GO:0071320

Q99996 (UniProtKB)

IMP

GO:0071320

Q99996 (UniProtKB)

IMP

GO:0086091

Q99996 (UniProtKB)

IMP

GO:1901018

Q99996 (UniProtKB)

IMP

可能调控 AKAP9基因的相关microRNA：

hsa-miR-21 hsa-miR-192

String

BioGrid

IntAct

mentha

MINT

Reactome

加载中…

关联基因	作用方式	资源库来源/分值

Reactomepathway

名称
Activation of NMDA receptor upon glutamate binding and postsynaptic events
Anchoring of the basal body to the plasma membrane
Assembly of the primary cilium
Cell Cycle
Cell Cycle, Mitotic
Centrosome maturation
CREB phosphorylation through the activation of CaMKII
CREB phosphorylation through the activation of Ras
G2/M Transition
Loss of Nlp from mitotic centrosomes
Loss of proteins required for interphase microtubule organizationÃ‚Â from the centrosome
Mitotic G2-G2/M phases
Neuronal System
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
Organelle biogenesis and maintenance
Post NMDA receptor activation events
Ras activation uopn Ca2+ infux through NMDA receptor
Recruitment of mitotic centrosome proteins and complexes
Regulation of PLK1 Activity at G2/M Transition
Transmission across Chemical Synapses
Unblocking of NMDA receptor, glutamate binding and activation

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Long Qt Syndrome 11	0.36	1	2	CLINVAR_CTD_human_UNIPROT
Long QT Syndrome	0.120542884	2	2	BeFree_CLINVAR
Arsenic Poisoning	0.12	1	0	CTD_human
Dermatologic disorders	0.12	1	0	CTD_human
Romano-Ward Syndrome	0.12	0	0	ORPHANET
Malignant neoplasm of lung	0.004734064	2	0	GAD
Colorectal Cancer	0.002909916	2	10	BeFree_GAD
Malignant neoplasm of breast	0.002909916	2	1	BeFree_GAD
Carcinoma, Papillary	0.00272435	1	0	LHGDN
Mammary Neoplasms	0.00272435	1	0	LHGDN

Primary high-grade mucoepidermoid carcinoma of the lacrimal gland: retrospective clinical-pathologic analysis of 20 cases.

Zhi X, Li J, Fang W, Li Y, Ma R, Hei Y, Mu X, Li Y, Yao L, Liu W, Liu Y, Deng A, Ma J, Lv X, Yang X, Wu W BMC Ophthalmol IF: 1.586 2026-04-17

Golgi organization regulates stem cell function in the small intestine.

Belevich I, Porcile L, Sola-Carvajal A, Grommisch D, Annusvar K, Heinz P, Das S, Webb AT, Andersson S, Pentinmikko N, Villablanca EJ, Goldenring JR, Kasper M, Jokitalo E, Coffey RJ, Katajisto P, Scharaw S Nat Commun IF: 12.124 2026-07-29

Integrated Single-Cell and Bulk Transcriptomics Unveils Immune Profiles in Chick Erythroid Cells upon Avian Pathogenic Escherichia coli Infection.

Cai F, Wang X, Wang C, Wang Y, Zhang W Animals (Basel) IF: 3.2 2026-01-07

The utility of genomics and functional imaging to predict sunitinib pharmacokinetics and pharmacodynamics: The predict SU study.

Michael M, Toner GC, Ganju V, Link E, Thompson M, Matera A, Hicks RJ, Campbell I, Rowley S, Karapetis CS, Burge M, Pook DW Br J Clin Pharmacol IF: 3.0 2026-06-00

Harnessing AACR Project GENIE to Define the Molecular Features of Desmoplastic Small Round Cell Tumor.

Kolluru S, Horio N, Torbenson E, Hsia B, Tauseef A Curr Issues Mol Biol IF: 4.1 2026-01-15

Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.

Ullah MF, Mir R, Javid J, Elfaki I, Altemani FH, Barnawi J, Algehainy NA, Jalal MM, Altayar MA, Albalawi SO, Mustafa SK, Yousif A, Husain E, Tayeb FJ, AbuDuhier FM Biomol Biomed IF: 2.8 2026-01-21

Emerin is necessary for microtubule-organizing center translocation to the nuclear envelope of muscle cells.

Mattioli E, Cenni V, Sabatelli P, Schena E, Santi S, Fiorillo C, Bruno C, Pini A, Giannotta M, Cavallo M, Errani C, Cattin E, Benati D, Recchia A, Lattanzi G Cell Death Dis IF: 12.2 2026-05-12

Uterine mesenchymal neoplasm harbouring an AKAP9::BRAF fusion: identification of a novel kinase-driven molecular subset.

Mende SP, Hartmann N, Deckert S, Kloth M, Roth W, Hoenig A, Porubsky S Virchows Arch IF: 3.0 2026-05-05

Mutations in a-kinase anchoring protein 9 disrupt β-adrenergic modulation of delayed rectifier potassium current in long QT syndrome.

Yuan H, Lu L, Wen H, Lu J, Zhang A, Wu L, Li M Mutat Res Rev Mutat Res IF: 6.5 2026-05-14

Single-cell and high-resolution spatial profiling of podocytopathies reveals core mechanisms of podocyte injury.

Qing J, Zhao Y, Wang X, Bai L, Wang X, Zhou L, Wei R, Huang X, Hu J, Ma Y, Gao M, Wu J Sci Adv IF: 12.5 2026-07-24

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AKAP9 (A-kinase anchoring protein 9)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

尚未收录相关数据

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

基因相关文献

基因相关服务

基因相关服务

基因相关评论

基因相关评论

联系地址

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