ENSG00000127914


Homo sapiens

Features
Gene ID: ENSG00000127914
  
Biological name :AKAP9
  
Synonyms : AKAP9 / A-kinase anchoring protein 9 / Q99996
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q21.2
Gene start: 91940867
Gene end: 92110673
  
Corresponding Affymetrix probe sets: 207870_at (Human Genome U133 Plus 2.0 Array)   210962_s_at (Human Genome U133 Plus 2.0 Array)   215483_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000391704
Ensembl peptide - ENSP00000378065
Ensembl peptide - ENSP00000406937
Ensembl peptide - ENSP00000494626
Ensembl peptide - ENSP00000480807
Ensembl peptide - ENSP00000348573
Ensembl peptide - ENSP00000350813
Ensembl peptide - ENSP00000351922
Ensembl peptide - ENSP00000378042
NCBI entrez gene - 10142     See in Manteia.
OMIM - 604001
RefSeq - XM_017011660
RefSeq - XM_017011650
RefSeq - XM_017011651
RefSeq - XM_017011652
RefSeq - XM_017011653
RefSeq - XM_017011654
RefSeq - XM_017011655
RefSeq - XM_017011656
RefSeq - XM_017011657
RefSeq - XM_017011658
RefSeq - XM_017011659
RefSeq - NM_005751
RefSeq - NM_147185
RefSeq - XM_017011642
RefSeq - XM_017011643
RefSeq - XM_017011644
RefSeq - XM_017011645
RefSeq - XM_017011646
RefSeq - XM_017011647
RefSeq - XM_017011648
RefSeq - XM_017011649
RefSeq Peptide - NP_671714
RefSeq Peptide - NP_005742
swissprot - H0Y6Q0
swissprot - H7BYL6
swissprot - H7BZV6
swissprot - Q99996
swissprot - A0A087WX84
swissprot - A0A0A0MRF6
swissprot - Q6PJH3
swissprot - A0A0A0MRE9
Ensembl - ENSG00000127914
  
Related genetic diseases (OMIM): 611820 - ?Long QT syndrome-11, 611820
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 akap9ENSDARG00000079610Danio rerio
 AKAP9ENSGALG00000040724Gallus gallus
 Akap9ENSMUSG00000040407Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PCNT / O95613 / pericentrinENSG0000016029919


Protein motifs (from Interpro)
Interpro ID Name
 IPR005539  ELK domain
 IPR019528  Pericentrin/AKAP-450 centrosomal targeting domain
 IPR028745  A-kinase anchor protein 9/Pericentrin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle TAS
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0007020 microtubule nucleation IMP
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007194 negative regulation of adenylate cyclase activity IEA
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0031116 positive regulation of microtubule polymerization IMP
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IMP
 biological_processGO:0051602 response to electrical stimulus IEA
 biological_processGO:0051661 maintenance of centrosome location IMP
 biological_processGO:0060306 regulation of membrane repolarization IMP
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP
 biological_processGO:0061337 cardiac conduction TAS
 biological_processGO:0071320 cellular response to cAMP IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 biological_processGO:0098909 regulation of cardiac muscle cell action potential involved in regulation of contraction IMP
 biological_processGO:1901018 positive regulation of potassium ion transmembrane transporter activity IMP
 biological_processGO:1903358 regulation of Golgi organization IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005795 Golgi stack IDA
 cellular_componentGO:0005801 cis-Golgi network IDA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton TAS
 cellular_componentGO:0008076 voltage-gated potassium channel complex IDA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0044307 dendritic branch IEA
 cellular_componentGO:0097060 synaptic membrane IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015459 potassium channel regulator activity IMP
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0032947 protein-containing complex scaffold activity IEA
 molecular_functionGO:0034237 protein kinase A regulatory subunit binding IEA
 molecular_functionGO:0044325 ion channel binding IPI


Pathways (from Reactome)
Pathway description
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Unblocking of NMDA receptor, glutamate binding and activation
CREB phosphorylation through the activation of CaMKII
Ras activation upon Ca2+ influx through NMDA receptor
Phase 3 - rapid repolarisation
Phase 2 - plateau phase
Anchoring of the basal body to the plasma membrane
RAF/MAP kinase cascade
Signaling by BRAF and RAF fusions
AURKA Activation by TPX2


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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 HP:0001657 Prolonged QT interval on EKG 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / complex / reaction
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / complex / reaction
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / complex / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / complex / reaction
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / complex
 ENSG00000053918 KCNQ1 / P51787 / potassium voltage-gated channel subfamily Q member 1  / complex
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / reaction / complex
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex
 ENSG00000180509 KCNE1 / P15382 / potassium voltage-gated channel subfamily E regulatory subunit 1  / complex
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex / reaction
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / complex
 ENSG00000159197 KCNE2 / Q9Y6J6 / potassium voltage-gated channel subfamily E regulatory subunit 2  / complex
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / complex
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / complex / reaction
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction






 

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