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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. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]
AKAP9 (A-Kinase Anchoring Protein 9) is a Protein Coding gene. Diseases associated with AKAP9 include Long Qt Syndrome 11 and Long Qt Syndrome 1. Among its related pathways are RET signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and ion channel binding. An important paralog of this gene is PCNT.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005102 | signaling receptor binding | TAS | 9482789 |
GO:0005515 | protein binding | IPI | 12163479 |
GO:0015459 | potassium channel regulator activity | IMP | 16002409 |
GO:0016301 | kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IDA | 12163479 |
GO:0005795 | Golgi stack | IDA,IBA | 19242490 |
GO:0005801 | cis-Golgi network | IDA | 24648492 |
GO:0005813 | centrosome | IDA | 20096683 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Regulation of PLK1 Activity at G2/M Transition |
.49
|
|
3 | Post NMDA receptor activation events | ||
4 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
5 | Cardiac conduction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
GO:0007020 | microtubule nucleation | IMP | 19242490 |
GO:0007165 | signal transduction | IEA | -- |
GO:0007194 | negative regulation of adenylate cyclase activity | IEA | -- |
GO:0007268 | chemical synaptic transmission | TAS | 9482789 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
N-Methyl-D-aspartic acid |
|
6384-92-5 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 25a | · | 25b | ^ | 26a | · | 26b | · | 26c | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36a | · | 36b | ^ | 37a | · | 37b | · | 37c | ^ | 38a | · | 38b | ^ | 39 | ^ | 40a | · | 40b | · | 40c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 41 | ^ | 42 | ^ | 43a | · | 43b | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47a | · | 47b | · | 47c | ^ | 48a | · | 48b | · | 48c | ^ | 49a | · | 49b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||
SP12: | - | ||||||||||||||||||||||||||||
SP13: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | AKAP9 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | AKAP9 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | AKAP9 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Akap9 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | AKAP9 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | AKAP9 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | AKAP9 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | AKAP9 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | akap9 32 |
|
||
Str.14256 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7010 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | CABZ01010098.1 33 |
|
OneToMany | |
CABZ01010103.1 33 |
|
OneToMany | |||
akap9 33 |
|
OneToMany | |||
Dr.9964 32 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6103 32 |
|
SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000673132 | uncertain-significance, Long QT syndrome | 92,061,410(+) | A/C/G | coding_sequence_variant, missense_variant | |
rs1004449825 | likely-benign, Long QT syndrome | 92,079,705(+) | C/T | coding_sequence_variant, synonymous_variant | |
rs1006205177 | uncertain-significance, Long QT syndrome | 92,029,986(+) | A/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant | |
rs10228334 | benign, likely-benign, not specified, Cardiovascular phenotype, Long QT syndrome, Romano-Ward syndrome, Long QT syndrome 11 | 92,084,658(+) | C/T | coding_sequence_variant, synonymous_variant | |
rs10236397 | benign, likely-benign, not specified, Cardiovascular phenotype, Long QT syndrome, Romano-Ward syndrome, Long QT syndrome 11 | 92,062,287(+) | C/T | coding_sequence_variant, synonymous_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3571985 | CNV | loss | 25503493 |
nsv1021101 | CNV | gain | 25217958 |
nsv1140821 | CNV | deletion | 24896259 |
nsv5838 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
long qt syndrome 11 |
|
|
long qt syndrome 1 |
|
|
long qt syndrome |
|
|
brugada syndrome 1 |
|
|
cardiomyopathy, dilated, 1p |
|
|