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GKAP1 Gene

protein-coding   GIFtS: 48
GCID: GC09M086354

G Kinase Anchoring Protein 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
G Kinase Anchoring Protein 11 2
CGMP-Dependent Protein Kinase Anchoring Protein 42kDa1 2
GKAP422 3
CGMP-Dependent Protein Kinase-Anchoring Protein Of 42 KDa2 3
G Kinase-Anchoring Protein 12
Protein Kinase Anchoring Protein GKAP422

External Ids:    HGNC: 174961   Entrez Gene: 803182   Ensembl: ENSG000001651137   OMIM: 6113565   UniProtKB: Q5VSY03   

Export aliases for GKAP1 gene to outside databases

Previous GC identifers: GC09M081812 GC09M083583 GC09M085544 GC09M056179


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GKAP1 Gene:
This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein
42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I
alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Oct 2008)

GeneCards Summary for GKAP1 Gene:
GKAP1 (G kinase anchoring protein 1) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GKAP1 gene promoter:
         SRF   SRF (504 AA)   Pax-6   MyoD   MIF-1   CUTL1   Pax-3   POU2F1   POU2F1a   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGKAP1 promoter sequence
   Search Chromatin IP Primers for GKAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GKAP1


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

Entrez Gene cytogenetic band: 9q21.32   Ensembl cytogenetic band:  9q21.32   HGNC cytogenetic band: 9q22.1

GKAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GKAP1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M086354:  view genomic region     (about GC identifiers)

Start:
86,354,336 bp from pter      End:
86,444,431 bp from pter
Size:
90,096 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GKAP1_HUMAN, Q5VSY0 (See protein sequence)
Recommended Name: G kinase-anchoring protein 1  
Size: 366 amino acids; 42078 Da
Subunit: Interacts with PRKG1 (By similarity)
Sequence caution: Sequence=BAB71712.1; Type=Erroneous initiation; Sequence=CAH70734.1; Type=Erroneous gene model
prediction; Sequence=CAI16011.1; Type=Erroneous gene model prediction; Sequence=EAW62665.1; Type=Erroneous gene
model prediction;
Secondary accessions: Q96LI0 Q9BYI1 Q9BYI2 Q9H225
Alternative splicing: 2 isoforms:  Q5VSY0-1   Q5VSY0-2   

Explore the universe of human proteins at neXtProt for GKAP1: NX_Q5VSY0

Explore proteomics data for GKAP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GKAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129425.1  NP_079487.2  

    ENSEMBL proteins: 
     ENSP00000365550   ENSP00000365544   ENSP00000373434   ENSP00000417621  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026109 GKAP1

    Graphical View of Domain Structure for InterPro Entry Q5VSY0

    ProtoNet protein and cluster: Q5VSY0

    UniProtKB/Swiss-Prot: GKAP1_HUMAN, Q5VSY0
    Similarity: Belongs to the GKAP1 family


    Find genes that share domains with GKAP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0016301kinase activity ----
         
    Find genes that share ontologies with GKAP1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GKAP1

    miRNA
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    miRTarBase miRNAs that target GKAP1:
    hsa-mir-375 (MIRT019677)

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    SwitchGear 3'UTR luciferase reporter plasmidGKAP1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GKAP1_HUMAN, Q5VSY0: Golgi apparatus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    nucleus3
    mitochondrion2
    cytoskeleton1
    cytosol1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus ISS--

    Find genes that share ontologies with GKAP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GKAP1
    Interactions:

        Search GeneGlobe Interaction Network for GKAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for GKAP1 (Q5VSY02, 3 ENSP000003655504) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FXR2P511162, 3, ENSP000002501134MINT-66655 I2D: score=5 STRING: ENSP00000250113
    HBP1O603812, 3, ENSP000002225744MINT-2876688 I2D: score=1 STRING: ENSP00000222574
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2876650 MINT-2876669 I2D: score=3 STRING: ENSP00000357292
    HGSO149642, 3, ENSP000003312014MINT-66378 I2D: score=5 STRING: ENSP00000331201
    PRKG1Q139763, ENSP000003630924I2D: score=2 STRING: ENSP00000363092
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ISS--

    Find genes that share ontologies with GKAP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for GKAP1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GKAP1 gene (2 alternative transcripts): 
    NM_001135953.1  NM_025211.3  

    Unigene Cluster for GKAP1:

    G kinase anchoring protein 1
    Hs.522255  [show with all ESTs]
    Unigene Representative Sequence: AK026487
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376371(uc004amy.3 uc004amz.3) ENST00000376365 ENST00000376362
    ENST00000388782(uc011lsu.1) ENST00000491634 ENST00000485742 ENST00000462223

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    hsa-miR-548a-3p hsa-miR-548am hsa-miR-3136-5p hsa-miR-548x hsa-miR-548e
    SwitchGear 3'UTR luciferase reporter plasmidGKAP1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat GKAP1

    Additional mRNA sequence: 

    AB033131.1 AB033132.1 AF085972.1 AF319476.1 AJ420456.1 AK026487.1 AK058198.1 AK302100.1 
    BC014476.1 

    7 DOTS entries:

    DT.313616  DT.95217442  DT.100755244  DT.95173372  DT.95173373  DT.121193440  DT.91730562 

    Selected AceView cDNA sequences (see all 122):

    AA417051 AA293837 AI017585 AK058198 BE465725 AA213563 AI807614 AI001779 
    AF319476 AA807647 AA252342 AA040841 AA781692 BX096903 BF434321 AA815355 
    BG208614 AA971879 AJ420456 BU567936 AA815085 AK026487 AA768307 BU568729 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GKAP1 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for GKAP1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GKAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCATTAGA
    GKAP1 Expression
    About this image


    GKAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    GKAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GKAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522255
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GKAP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gkap11 , 5 G kinase anchoring protein 11, 5 85.34(n)1
    87.98(a)1
      13 (30.97 cM)5
    562781  NM_019832.31  NP_062806.11 
     582333515 
    chicken
    (Gallus gallus)
    Aves GKAP11 G kinase anchoring protein 1 78.48(n)
    76.92(a)
      427455  XM_004949197.1  XP_004949254.1 
    lizard
    (Anolis carolinensis)
    Reptilia GKAP16
    G kinase anchoring protein 1
    81(a)
    1 ↔ 1
    2(42641336-42660506)
    African clawed frog
    (Xenopus laevis)
    Amphibia gkap42-pending-prov2 protein kinase anchoring protein GKAP42 76.7(n)    BC041228.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi16a082 Danio rerio cDNA clone MGC66236 IMAGE3818311, complete more 73.61(n)    BC054663.1 


    ENSEMBL Gene Tree for GKAP1 (if available)
    TreeFam Gene Tree for GKAP1 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GKAP1 (see all 1608)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37636231,2
    C,F--86353921(-) CGGAGT/GCAGAG 2 -- ds50015Minor allele frequency- G:0.44NA CSA 9
    rs1388047141,2
    --86353960(+) TCCCGA/GGTAGC 2 -- ds50010--------
    rs1871420141,2
    --86353966(+) GTAGCC/TGGGAT 2 -- ds50010--------
    rs1915399741,2
    --86353979(+) CAGGCA/GCACAC 2 -- ds50010--------
    rs1429152021,2
    --86354132(+) CCCGGC/TCTAAC 2 -- ds50010--------
    rs1470006471,2
    --86354299(+) TACTTC/TCATTT 2 -- ds50010--------
    rs47501,2
    C,F,A,H--86354511(-) TTTTTG/CTTGAA 2 -- ut31 ese321Minor allele frequency- C:0.40EA NA MN NS CSA WA 2634
    rs2008460201,2
    C--86354586(+) AACTTT/CGTGTT 2 -- ut311Minor allele frequency- C:0.00EU 1251
    rs1837257731,2
    C--86354700(+) CAACAC/TACCAT 2 -- int10--------
    rs22873731,2
    C,F,A,H--86354810(-) ATGTAG/ACAGTA 2 -- int120Minor allele frequency- A:0.45NS EA NA CSA WA 2345

    HapMap Linkage Disequilibrium report for GKAP1 (86354336 - 86444431 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GKAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672912CNV Deletion23128226
    esv2738668CNV Deletion23290073
    esv7015CNV Loss19470904
    nsv893513CNV Gain21882294
    dgv2394e1CNV Complex17122850
    nsv469859CNV Complex16826518

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611356    OMIM disorders: --


    Find genes that share disorders with GKAP1           About GenesLikeMe


    Export disorders for GKAP1 gene to outside databases

    (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)
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    PubMed articles for GKAP1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with GKAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia. (PubMed id 16015647)1, 2 Sweetser D.A.... Daly S.B. (Genes Chromosomes Cancer 2005)
    2. Binding and phosphorylation of a novel male germ cell-specific cGMP- dependent protein kinase-anchoring protein by cGMP-dependent protein kinase Ialpha. (PubMed id 10671526)1, 2 Yuasa K.... Yanaka N. (J. Biol. Chem. 2000)
    3. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    5. Identification of multi-SH3 domain-containing protein interactome in pancreatic cancer: a yeast two-hybrid approach. (PubMed id 18654987)1 Thalappilly S....Dusetti N.J. (Proteomics 2008)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    7. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80318 HGNC: 17496 AceView: GKAP1 Ensembl:ENSG00000165113 euGenes: HUgn80318
    ECgene: GKAP1 H-InvDB: GKAP1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GKAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GKAP1 gene:
    Search GeneIP for patents involving GKAP1

    GeneCards and IP:
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