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AKAP1 (A-kinase anchoring protein 1)

Identity

Alias_namesPRKA1
A kinase (PRKA) anchor protein 1
Alias_symbol (synonym)AKAP121
AKAP149
SAKAP84
S-AKAP84
AKAP84
D-AKAP1
PPP1R43
TDRD17
Other aliasAKAP
HGNC (Hugo) AKAP1
LocusID (NCBI) 8165
Atlas_Id 47108
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 55163135 and ends at 55198705 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AKAP1 (17q22) / ANKFN1 (17q22)AKAP1 (17q22) / C17orf67 (17q22)AKAP1 (17q22) / GGA3 (17q25.1)
AKAP1 (17q22) / KIAA1671 (22q11.23)AKAP1 (17q22) / WIPF2 (17q21.1)CDK12 (17q12) / AKAP1 (17q22)
MSI2 (17q22) / AKAP1 (17q22)NGFRAP1 () / AKAP1 (17q22)AKAP1 17q22 / ANKFN1 17q22
AKAP1 17q22 / C17orf67 17q22AKAP1 17q22 / GGA3 17q25.1AKAP1 17q22 / WIPF2 17q21.1
CDK12 17q12 / AKAP1 17q22MSI2 17q22 / AKAP1 17q22

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AKAP1   367
Cards
Entrez_Gene (NCBI)AKAP1  8165  A-kinase anchoring protein 1
AliasesAKAP; AKAP121; AKAP149; AKAP84; 
D-AKAP1; PPP1R43; PRKA1; SAKAP84; TDRD17
GeneCards (Weizmann)AKAP1
Ensembl hg19 (Hinxton)ENSG00000121057 [Gene_View]  chr17:55163135-55198705 [Contig_View]  AKAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000121057 [Gene_View]  chr17:55163135-55198705 [Contig_View]  AKAP1 [Vega]
ICGC DataPortalENSG00000121057
TCGA cBioPortalAKAP1
AceView (NCBI)AKAP1
Genatlas (Paris)AKAP1
WikiGenes8165
SOURCE (Princeton)AKAP1
Genetics Home Reference (NIH)AKAP1
Genomic and cartography
GoldenPath hg19 (UCSC)AKAP1  -     chr17:55163135-55198705 +  17q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AKAP1  -     17q22   [Description]    (hg38-Dec_2013)
EnsemblAKAP1 - 17q22 [CytoView hg19]  AKAP1 - 17q22 [CytoView hg38]
Mapping of homologs : NCBIAKAP1 [Mapview hg19]  AKAP1 [Mapview hg38]
OMIM602449   
Gene and transcription
Genbank (Entrez)AF015910 AK292416 AK297810 AK308397 BC000729
RefSeq transcript (Entrez)NM_001242902 NM_001242903 NM_003488 NM_139275
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_029985 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)AKAP1
Cluster EST : UnigeneHs.463506 [ NCBI ]
CGAP (NCI)Hs.463506
Alternative Splicing GalleryENSG00000121057
Gene ExpressionAKAP1 [ NCBI-GEO ]   AKAP1 [ EBI - ARRAY_EXPRESS ]   AKAP1 [ SEEK ]   AKAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)AKAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8165
GTEX Portal (Tissue expression)AKAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92667   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92667  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92667
Splice isoforms : SwissVarQ92667
PhosPhoSitePlusQ92667
Domaine pattern : Prosite (Expaxy)KH_TYPE_1 (PS50084)    TUDOR (PS50304)   
Domains : Interpro (EBI)KH_dom    KH_dom_type_1    RII_binding_1    Tudor   
Domain families : Pfam (Sanger)KH_1 (PF00013)    RII_binding_1 (PF10522)    TUDOR (PF00567)   
Domain families : Pfam (NCBI)pfam00013    pfam10522    pfam00567   
Domain families : Smart (EMBL)KH (SM00322)  TUDOR (SM00333)  
Conserved Domain (NCBI)AKAP1
DMDM Disease mutations8165
Blocks (Seattle)AKAP1
SuperfamilyQ92667
Human Protein AtlasENSG00000121057
Peptide AtlasQ92667
HPRD03905
IPIIPI00942186   IPI00158627   IPI00022585   IPI00382444   
Protein Interaction databases
DIP (DOE-UCLA)Q92667
IntAct (EBI)Q92667
FunCoupENSG00000121057
BioGRIDAKAP1
STRING (EMBL)AKAP1
ZODIACAKAP1
Ontologies - Pathways
QuickGOQ92667
Ontology : AmiGORNA binding  protein binding  mitochondrion  mitochondrial outer membrane  mitochondrial matrix  lipid particle  cytosol  blood coagulation  microtubule binding  negative regulation of cardiac muscle hypertrophy  regulation of protein kinase A signaling  membrane  integral component of membrane  protein kinase binding  protein domain specific binding  mitochondrial crista  protein phosphatase 2B binding  neuromuscular junction  protein complex scaffold  protein kinase A regulatory subunit binding  negative regulation of protein dephosphorylation  poly(A) RNA binding  postsynaptic membrane  beta-tubulin binding  negative regulation of NFAT protein import into nucleus  cellular response to cAMP  cellular response to peptide hormone stimulus  
Ontology : EGO-EBIRNA binding  protein binding  mitochondrion  mitochondrial outer membrane  mitochondrial matrix  lipid particle  cytosol  blood coagulation  microtubule binding  negative regulation of cardiac muscle hypertrophy  regulation of protein kinase A signaling  membrane  integral component of membrane  protein kinase binding  protein domain specific binding  mitochondrial crista  protein phosphatase 2B binding  neuromuscular junction  protein complex scaffold  protein kinase A regulatory subunit binding  negative regulation of protein dephosphorylation  poly(A) RNA binding  postsynaptic membrane  beta-tubulin binding  negative regulation of NFAT protein import into nucleus  cellular response to cAMP  cellular response to peptide hormone stimulus  
NDEx NetworkAKAP1
Atlas of Cancer Signalling NetworkAKAP1
Wikipedia pathwaysAKAP1
Orthology - Evolution
OrthoDB8165
GeneTree (enSembl)ENSG00000121057
Phylogenetic Trees/Animal Genes : TreeFamAKAP1
HOVERGENQ92667
HOGENOMQ92667
Homologs : HomoloGeneAKAP1
Homology/Alignments : Family Browser (UCSC)AKAP1
Gene fusions - Rearrangements
Fusion : MitelmanAKAP1/GGA3 [17q22/17q25.1]  
Fusion : MitelmanAKAP1/WIPF2 [17q22/17q21.1]  [t(17;17)(q21;q22)]  
Fusion: TCGAAKAP1 17q22 ANKFN1 17q22 BRCA
Fusion: TCGAAKAP1 17q22 C17orf67 17q22 BRCA
Fusion: TCGAAKAP1 17q22 GGA3 17q25.1 BRCA
Fusion: TCGAAKAP1 17q22 WIPF2 17q21.1 BRCA
Fusion: TCGACDK12 17q12 AKAP1 17q22 BRCA
Fusion: TCGAMSI2 17q22 AKAP1 17q22 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKAP1
dbVarAKAP1
ClinVarAKAP1
1000_GenomesAKAP1 
Exome Variant ServerAKAP1
ExAC (Exome Aggregation Consortium)AKAP1 (select the gene name)
Genetic variants : HAPMAP8165
Genomic Variants (DGV)AKAP1 [DGVbeta]
DECIPHER (Syndromes)17:55163135-55198705  ENSG00000121057
CONAN: Copy Number AnalysisAKAP1 
Mutations
ICGC Data PortalAKAP1 
TCGA Data PortalAKAP1 
Broad Tumor PortalAKAP1
OASIS PortalAKAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAKAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch AKAP1
DgiDB (Drug Gene Interaction Database)AKAP1
DoCM (Curated mutations)AKAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKAP1 (select a term)
intoGenAKAP1
Cancer3DAKAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602449   
Orphanet
MedgenAKAP1
Genetic Testing Registry AKAP1
NextProtQ92667 [Medical]
TSGene8165
GENETestsAKAP1
Huge Navigator AKAP1 [HugePedia]
snp3D : Map Gene to Disease8165
BioCentury BCIQAKAP1
ClinGenAKAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8165
Chemical/Pharm GKB GenePA24661
Clinical trialAKAP1
Miscellaneous
canSAR (ICR)AKAP1 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKAP1
EVEXAKAP1
GoPubMedAKAP1
iHOPAKAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:02 CEST 2017

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