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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AKAP1 Gene

protein-coding   GIFtS: 60
GCID: GC17P055162

A kinase (PRKA) anchor protein 1


(Previous symbol: PRKA1)
 Explore 15 diseases affiliated with
AKAP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AKAP1    

Aliases
for AKAP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
A Kinase (PRKA) Anchor Protein 11 2     A-Kinase Anchor Protein 149 KDa2 3
AKAP1491 2 3 5     AKAP 1492 3
PRKA11 2 3     AKAP2
SAKAP841 2 5     A-Kinase Anchor Protein 1, Mitochondrial2
AKAP1211 2     Dual-Specificity A-Kinase Anchoring Protein 12
AKAP841 2     Protein Kinase A Anchoring Protein 12
D-AKAP11 2     Protein Kinase A12
PPP1R431 2     Protein Phosphatase 1, Regulatory Subunit 432
TDRD171 2     Tudor Domain Containing 172
S-AKAP841 3     Dual Specificity A-Kinase-Anchoring Protein 13
Spermatid A-Kinase Anchor Protein 842 3     Protein Kinase A-Anchoring Protein 13
D-AKAP-12 3     

External Ids:    HGNC: 3671   Entrez Gene: 81652   Ensembl: ENSG000001210577   OMIM: 6024495   UniProtKB: Q926673   

Export aliases for AKAP1 gene to outside databases

Previous GC identifers: GC17P054899 GC17P057644 GC17P055504 GC17P055637 GC17P052517 GC17P050523


Summaries
for AKAP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for AKAP1:
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. The encoded protein binds to type I and type II regulatory
subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent
signal transduction pathway and in directing RNA to a specific cellular compartment. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AKAP1_HUMAN, Q92667
Function: Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of
the mitochondrial outer membrane

Gene Wiki entry for AKAP1


Genomic Views
for AKAP1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKAP1 gene promoter:
         USF1   AP-1   ATF-2   CUTL1   GATA-2   CREB   deltaCREB   USF-1   Sox9   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AKAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q22   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q22

AKAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P055162:  view genomic region     (about GC identifiers)

Start:
 55,162,453 bp from pter      End:
 55,198,710 bp from pter
Size:
 36,258 bases      Orientation:
 plus strand

Proteins
for AKAP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AKAP1_HUMAN, Q92667 (See protein sequence)
Recommended Name: A-kinase anchor protein 1, mitochondrial precursor  
Size: 903 amino acids; 97342 Da
Subcellular location: Mitochondrion outer membrane (Potential)
Secondary accessions: A8K8Q1 D3DTZ0 Q13320 Q9BW14
Alternative splicing: 2 isoforms:  Q92667-1   Q92667-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for AKAP1: NX_Q92667

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92667

    • AKAP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001229831.1  NP_001229832.1  NP_003479.1  

    ENSEMBL proteins: 
     ENSP00000459808   ENSP00000337736   ENSP00000459968   ENSP00000458982   ENSP00000461418  
     ENSP00000460557   ENSP00000458164   ENSP00000460209   ENSP00000459895   ENSP00000433212  
     ENSP00000443139   ENSP00000460514   ENSP00000459521   ENSP00000458378   ENSP00000461854  
     ENSP00000460762   ENSP00000458370   ENSP00000314075  
    Reactome Protein details: Q92667
    Human Recombinant Protein Products: 
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    Novus Biologicals AKAP1 Protein
    Novus Biologicals AKAP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for AKAP1

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane ----
    GO:0005759mitochondrial matrix ----
    GO:0005811lipid particle ----


    AKAP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for AKAP1

    Protein Domains /
    Families
    for AKAP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AKAP1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR004087 KH_dom
     IPR004088 KH_dom_type_1
     IPR002999 Tudor

    Graphical View of Domain Structure for InterPro Entry Q92667

    ProtoNet protein and cluster: Q92667

    4 Blocks protein families:
    IPB002999 Tudor domain
    IPB004087 KH domain
    IPB004088 KH
    IPB008191 Maternal tudor protein


    UniProtKB/Swiss-Prot: AKAP1_HUMAN, Q92667
    Domain: RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein
    interactions with a complementary surface on the R-subunit dimer
    Similarity: Contains 1 KH domain
    Similarity: Contains 1 Tudor domain


    Function
    for AKAP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AKAP1_HUMAN, Q92667
    Function: Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of
    the mitochondrial outer membrane

         Genatlas biochemistry entry for AKAP1:
    A kinase (PRKA regulatory subunit RIIA) anchor protein 1

    miRNA
    Products:            		miRTarBase miRNAs that target AKAP1:
    hsa-mir-204 (MIRT005814)

    OriGene 3'-UTR Clone: AKAP1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKAP1
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate AKAP1 (see all 42):
    hsa-let-7a-2* hsa-miR-301a hsa-miR-766 hsa-miR-507 hsa-miR-409-5p hsa-miR-4273 hsa-miR-130b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmid: AKAP1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AKAP1 (see all 7)
    OriGene shRNA RFP: AKAP1
    OriGene siRNA: AKAP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AKAP1

    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKAP1 

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    Search LifeMap BioReagents cell lines for AKAP1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP1

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI12223483
    GO:0008017microtubule binding ----
    GO:0019901protein kinase binding ----
    GO:0019903protein phosphatase binding ----


    AKAP1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for AKAP1:
     PARP inhibitor sensitization 

    Animal Models:
         Mouse knock-out Akap1tm1Gsm for AKAP1
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Akap1):
     reproductive system 

    AKAP1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AKAP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		Activation of PKA through GPCR0.71
    		cAMP Pathway0.77
    		PKA Signaling0.56
    2Ca, cAMP and Lipid Signaling
    		Ca, cAMP and Lipid Signaling1.00
    3Factors involved in megakaryocyte development and platelet production
    		Factors involved in megakaryocyte development and platelet production1.00
    4Proton Pump Inhibitor Pathway, Pharmacodynamics
    		Proton Pump Inhibitor Pathway, Pharmacodynamics1.00
    5Selected targets of ESR1
    		Selected targets of ESR11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for AKAP1
        Selected targets of ESR1

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AKAP1
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 Cell Signaling Technology (CST) Pathway for AKAP1
        Ca, cAMP and Lipid Signaling

    1 BioSystems Pathway for AKAP1 
        G Protein Signaling Pathways

    2        Reactome Pathways for AKAP1
        Hemostasis
    Factors involved in megakaryocyte development and platelet production

    1 PharmGKB Pathway for AKAP1
        Proton Pump Inhibitor Pathway, Pharmacodynamics


    AKAP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/26 Interacting proteins for AKAP1 (Q926671, 2, 3 ENSP000003377364) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCBPQ994171, 3, ENSP000003807024EBI-2120060,EBI-2559925 I2D: score=4 STRING: ENSP00000380702
    PRKAR1AP106442, 3, ENSP000003514104MINT-17792 I2D: score=4 STRING: ENSP00000351410
    PRKAR2AP138612, 3, ENSP000002655634MINT-2411925 I2D: score=4 STRING: ENSP00000265563
    AMY1AP047453, ENSP000003591004I2D: score=2 STRING: ENSP00000359100
    AMY1BP047453I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007596blood coagulation TAS--
    GO:0010614negative regulation of cardiac muscle hypertrophy ----
    GO:0032869cellular response to insulin stimulus ----
    GO:0035308negative regulation of protein dephosphorylation ----
    GO:0051534negative regulation of NFAT protein import into nucleus ----


    AKAP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AKAP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AKAP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AKAP1
    9 Novoseek chemical compound relationships for AKAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclic amp 53.3 1 15143158 (1)
    potassium 11.5 1 15528278 (1)
    serine 3.74 4 16669629 (2), 8910553 (1)
    atp 2.57 5 16251349 (2), 8228907 (1), 7972090 (1), 10600928 (1)
    lipid 0 1 16856837 (1)
    steroid 0 1 12943713 (1)
    calcium 0 3 12709444 (1), 9620705 (1), 9247274 (1)
    tyrosine 0 5 16251349 (3), 15143158 (1), 12509440 (1)
    hydrogen 0 1 16260760 (1)

    Search CenterWatch for drugs/clinical trials and news about AKAP1 

    Transcripts
    for AKAP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for AKAP1 gene (4 alternative transcripts): 
    NM_001242902.1  NM_001242903.1  NM_003488.3  NM_139275.1  

    Unigene Cluster for AKAP1:

    A kinase (PRKA) anchor protein 1
    Hs.463506  [show with all ESTs]
    Unigene Representative Sequence: NM_001242903
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000575322 ENST00000337714(uc002iux.3 uc010wnl.2) ENST00000571629
    ENST00000570423 ENST00000575186 ENST00000573085 ENST00000572814 ENST00000574683
    ENST00000572557 ENST00000481416(uc021uak.1 uc010dcm.3 uc002iuy.3)
    ENST00000539273 ENST00000576591 ENST00000572156 ENST00000576295 ENST00000573326
    ENST00000575032 ENST00000572560 ENST00000314126

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AKAP1
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate AKAP1 (see all 42):
    hsa-let-7a-2* hsa-miR-301a hsa-miR-766 hsa-miR-507 hsa-miR-409-5p hsa-miR-4273 hsa-miR-130b hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmid: AKAP1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK292416.1 AK297810.1 AK308397.1 BC000729.2 X97335.1 

    12 DOTS entries:

    DT.95125145  DT.40239465  DT.95184536  DT.120932653  DT.95125148  DT.120932644  DT.120932647  DT.120932635 
    DT.120932650  DT.120932656  DT.100789733  DT.101978716 

    24/335 AceView cDNA sequences (see all 335):

    AI758554 BM765562 CR594012 BM127048 BU185892 Z38604 BQ721084 BE349924 
    AI264546 BM995751 BU944700 BM772839 CB153066 AI202413 AI357135 AI284934 
    AI952913 AA868550 AW752876 AI264373 BU783236 BM783447 BM753758 BU787835 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP1 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:        -     -     -     -     -     -     -                                         -                                                                     
    SP2:                                            -                                                                                                               
    SP3:                                                                                      -                                                                     
    SP4:                                                                                                                                                            
    SP5:                                            -                                                                                                               


    ECgene alternative splicing isoforms for AKAP1

    Expression
    for AKAP1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AKAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCACCTGTAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See AKAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKAP1

    SOURCE GeneReport for Unigene cluster: Hs.463506

    UniProtKB/Swiss-Prot: AKAP1_HUMAN, Q92667
    Tissue specificity: AKAP149 is highly expressed in prostate and small intestine whereas S-AKAP84 is expressed in
    kidney, pancreas, liver, lung and brain. AKAP149 is also expressed in colon carcinoma

        SABiosciences Expression via Pathway-Focused PCR Array including AKAP1: 
              Estrogen Receptor Signaling in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP1

    Orthologs
    for AKAP1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for AKAP1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves AKAP11 A kinase (PRKA) anchor protein 1 56.92(n)
    51.39(a)    		   417668  XM_415913.3  XP_415913.1 
    lizard
    (Anolis carolinensis)    		 Reptilia AKAP16
    		 --
    		 73(a)
    		 1 ↔ 1
    		 GL343543.1(660-12914)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.100322 Transcribed sequence with moderate similarity to protein more 75.98(n)    137713903 
    zebrafish
    (Danio rerio)    		 Actinopterygii akap12 A kinase (PRKA) anchor protein 1 76.2(n)   334904  BM860930.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta spoon6
    		 spoonbill
    		 23(a)
    		 1 ↔ 1
    		 X(5306419-5314896)
    worm
    (Caenorhabditis elegans)    		 Secernentea C56G2.1a3   -- 33(a)
    (best of 2)    		     --


    ENSEMBL Gene Tree for AKAP1 (if available)
    TreeFam Gene Tree for AKAP1 (if available) 

    Paralogs
    for AKAP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for AKAP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/792 NCBI SNPs in AKAP1 are shown (see all 792)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1483121421,2
    		C,unknown50543942(+) AGAAAA/GGGAAC 6 K R mis10--------
    rs560385041,2
    		C,--50522121(+) AATGGG/ATCTCA 3 -- us2k12Minor allele frequency- A:0.09NA 122
    rs786047231,2
    		F,--50522998(+) ATTAAT/GGGCCA 3 -- us2k11Minor allele frequency- G:0.03WA 118
    rs777519211,2
    		F,--50523089(+) GCCCCT/CCCGCC 3 -- us2k11Minor allele frequency- C:0.06WA 118
    rs1138470831,2
    		C,--50523628(+) ATGGTG/AGCCGA 3 -- ut51 us2k11Minor allele frequency- A:0.50NA 2
    rs728434151,2
    		C,--50524131(+) TGAGCC/TGGAGC 3 -- int1 ut514Minor allele frequency- T:0.10CSA WA NA EA 360
    rs562655091,2
    		--50524412(+) TCTGCC/GGACCT 3 -- int10--------
    rs785691931,2
    		--50524584(+) GTGCCC/TTAGCT 3 -- int11Minor allele frequency- T:0.01NA 120
    rs747236711,2
    		--50524599(+) GTCTTC/ACTGTT 3 -- int11Minor allele frequency- A:0.01WA 118
    rs728434161,2
    		C,--50524708(+) TTCCTC/TTCCTG 3 -- ut51 int13Minor allele frequency- T:0.05NA EA 242

    HapMap Linkage Disequilibrium report for AKAP1 (55162453 - 55198710 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AKAP1
         2 CNVs: 5870 7167

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    Disorders / Diseases
    for AKAP1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AKAP1 for disorders           About GeneDecksing

    OMIM gene information: 602449    OMIM disorders: --

    15 diseases for AKAP1:    About MalaCards
    myasthenia gravis    muscle hypertrophy    cystic fibrosis    polycystic kidney disease
    myasthenia    kidney disease    fibrosis    neurofibromatosis
    colon carcinoma    prostate cancer    cholesterol    hypoxia
    prostatitis    carcinoma    neuronitis

    1 Novoseek disease relationship for AKAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 0.309 1 10600928 (1)

    Human Genome Epidemiology (HuGE) Navigator: AKAP1 (2 documents)

    Export disorders for AKAP1 gene to outside databases

    Publications
    for AKAP1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AKAP1 gene, integrated from 9 sources (see all 154):
    (articles sorted by number of sources associating them with AKAP1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of S-AKAP84, a novel developmentally regulated A kinase anchor protein of male germ cells. (PubMed id 7499250)1, 2, 3, 9 Lin R.-Y.... Rubin C.S. (1995)
    2. Molecular characterization of AKAP149, a novel A kinase anchor protein with a KH domain. (PubMed id 8769136)1, 2, 3, 9 Trendelenburg G.... Hanski C. (1996)
    3. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. AMY-1, a c-Myc-binding protein, is localized in the mitochondria of sperm by association with S-AKAP84, an anchor protein of cAMP- dependent protein kinase. (PubMed id 11483602)1, 9 Furusawa M.... Ariga H. (2001)
    6. NH2-Terminal targeting motifs direct dual specificity A-kinase-anchoring protein 1 (D-AKAP1) to either mitochondria or endoplasmic reticulum. (PubMed id 10352013)1, 9 Huang L.J....Taylor S.S. (1999)
    7. Mutually exclusive binding of PP1 and RNA to AKAP149 affects the mitochondrial network. (PubMed id 19074462)1, 9 Rogne M....KA1ntziger T. (2009)
    8. Proteolysis of AKAP121 regulates mitochondrial activity during cellular hypoxia and brain ischaemia. (PubMed id 18323779)1, 9 Carlucci A....Feliciello A. (2008)
    9. AKAP149 binds to HIV-1 reverse transcriptase and is involved in the reverse transcription. (PubMed id 18786546)1, 9 Lemay J....Liu L.X. (2008)
    10. AKAP149 is a novel PP1 specifier required to maintain nuclear envelope integrity in G1 phase. (PubMed id 12697839)1, 9 Steen R.L....Collas P. (2003)

    External Searches for AKAP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AKAP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8165 HGNC: 367 AceView: AKAP1 Ensembl:ENSG00000121057 euGenes: HUgn8165
    ECgene: AKAP1 H-InvDB: AKAP1

    Other Databases showing AKAP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AKAP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AKAP1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for AKAP1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for AKAP1 gene:
    Search GeneIP for patents involving AKAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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