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GAK Gene

protein-coding   GIFtS: 68
GCID: GC04M000832

Cyclin G Associated Kinase

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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
Cyclin G Associated Kinase1 2
auxilin-21 2
EC 2.7.11.13 8
DNAJ262
DNAJC262
Cyclin-G-Associated Kinase2

External Ids:    HGNC: 41131   Entrez Gene: 25802   Ensembl: ENSG000001789507   OMIM: 6020525   UniProtKB: O149763   

Export aliases for GAK gene to outside databases

Previous GC identifers: GC04M000847 GC04P000873


(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 GAK Gene:
In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are
regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of
phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus
domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred
to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product
and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Two transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Nov 2013)

GeneCards Summary for GAK Gene:
GAK (cyclin G associated kinase) is a protein-coding gene. GO annotations related to this gene include protein serine/threonine kinase activity. An important paralog of this gene is DNAJC6.

UniProtKB/Swiss-Prot: GAK_HUMAN, O14976
Function: Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating
of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle,
peaking at G1

Gene Wiki entry for GAK 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_000004.11  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAK gene promoter:
         MAZR   AP-1   NRSF form 1   Egr-1   ATF-2   Nkx2-5   E4BP4   NRSF form 2   HFH-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): GAK promoter sequence
   Search Chromatin IP Primers for GAK

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


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

Entrez Gene cytogenetic band: 4p16   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M000832:  view genomic region     (about GC identifiers)

Start:
843,064 bp from pter      End:
926,174 bp from pter
Size:
83,111 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GAK_HUMAN, O14976 (See protein sequence)
Recommended Name: Cyclin-G-associated kinase  
Size: 1311 amino acids; 143191 Da
4 PDB 3D structures from and Proteopedia for GAK:
4C57 (3D)        4C58 (3D)        4C59 (3D)        4O38 (3D)    
Secondary accessions: Q9BVY6

Explore the universe of human proteins at neXtProt for GAK: NX_O14976

Explore proteomics data for GAK at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys325
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for GAK (O14976)
     LAEGGFA  PPIIHRD  EGGFAFVY 


    See GAK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001273762.1  NP_005246.2  

    ENSEMBL proteins: 
     ENSP00000424553   ENSP00000314499   ENSP00000421361   ENSP00000421049   ENSP00000426062  
     ENSP00000426908   ENSP00000426728   ENSP00000424701   ENSP00000421814   ENSP00000422391  
    Reactome Protein details: O14976

    GAK Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    DNAJ: Heat shock proteins / DNAJ (HSP40)

    IUPHAR Guide to PHARMACOLOGY protein family classification: cyclin G associated kinase
    Numb-associated kinase (NAK) family

    Selected InterPro protein domains (see all 7):
     IPR014019 Phosphatase_tensin-typ
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom
     IPR001623 DnaJ_domain

    Graphical View of Domain Structure for InterPro Entry O14976

    ProtoNet protein and cluster: O14976

    UniProtKB/Swiss-Prot: GAK_HUMAN, O14976
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family
    Similarity: Contains 1 C2 tensin-type domain
    Similarity: Contains 1 J domain
    Similarity: Contains 1 phosphatase tensin-type domain
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with GAK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GAK_HUMAN, O14976
    Function: Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating
    of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle,
    peaking at G1
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Genatlas biochemistry entry for GAK:
    cyclin G-associated kinase,ubiquitously expressed

         Enzyme Number (IUBMB): EC 2.7.11.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with GAK           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for GAK:
     Decreased focal adhesion (FA)   Decreased homologous recombina  Decreased substrate adherent c  Increased cell death in DLD-1  
     Increased cell number in G2M,   Paclitaxel antagonistic effect 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gak):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     integument  liver/biliary system  mortality/aging  nervous system  normal 
     respiratory system 

    Find genes that share phenotypes with GAK           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gaktm1Legr for GAK

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GAK
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GAK
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    miRNA
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    hsa-mir-744-5p (MIRT037433), hsa-mir-1 (MIRT001367), hsa-mir-301a-3p (MIRT044214), hsa-mir-92a-3p (MIRT049506)

    Block miRNA regulation of human, mouse, rat GAK using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate GAK:
    hsa-miR-3673 hsa-miR-206 hsa-let-7g* hsa-let-7a-2* hsa-miR-613 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidGAK 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for GAK 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAK


    (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
    GAK_HUMAN, O14976: Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network. Cell junction, focal
    adhesion (Probable). Note=Localizes to the perinuclear area and to the trans-Golgi network. Also seen on the
    plasma membrane, probably at focal adhesions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    cytosol3
    plasma membrane3
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IDA--
    GO:0005925focal adhesion IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--
    GO:0048471perinuclear region of cytoplasm IEA--

    Find genes that share ontologies with GAK           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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    SuperPaths for GAK About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32


    Find genes that share SuperPaths with GAK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for GAK
        Golgi Associated Vesicle Biogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GAK
    Interactions:

        GeneGlobe Interaction Network for GAK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GAK (O149761, 3 ENSP000003144994) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USO1O607633, ENSP000004116984I2D: score=4 STRING: ENSP00000411698
    CDK5Q005353, ENSP000002975184I2D: score=3 STRING: ENSP00000297518
    ARP102753, ENSP000003638224I2D: score=2 STRING: ENSP00000363822
    AP1M2Q9Y6Q53, ENSP000002502444I2D: score=1 STRING: ENSP00000250244
    DNM2P505703, ENSP000003527214I2D: score=1 STRING: ENSP00000352721
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0007049cell cycle IEA--

    Find genes that share ontologies with GAK           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
      Browse compounds at ApexBio 

    Browse Tocris compounds for GAK

    2 HMDB Compounds for GAK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    1 Novoseek inferred chemical compound relationship for GAK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 17.8 1 15240878 (1)



    Find genes that share compounds with GAK           About GenesLikeMe



    (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 GAK gene (2 alternative transcripts): 
    NM_001286833.1  NM_005255.2  

    Unigene Cluster for GAK:

    Cyclin G associated kinase
    Hs.369607  [show with all ESTs]
    Unigene Representative Sequence: NM_005255
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000502799 ENST00000504668 ENST00000511345 ENST00000515868 ENST00000509566(uc010ibj.3)
    ENST00000314167(uc003gbl.4 uc003gbm.4) ENST00000511163(uc003gbn.4 uc010ibk.1)
    ENST00000511980 ENST00000510799 ENST00000504947 ENST00000504435 ENST00000505819(uc003gbo.2)
    ENST00000507580 ENST00000502656 ENST00000507991 ENST00000512325 ENST00000510022
    ENST00000511229
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate GAK:
    hsa-miR-3673 hsa-miR-206 hsa-let-7g* hsa-let-7a-2* hsa-miR-613 hsa-miR-1
    SwitchGear 3'UTR luciferase reporter plasmidGAK 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: GAK (NM_005255)
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    Addgene plasmids for GAK 
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      QuantiTect SYBR Green Assays in human, mouse, rat GAK
      QuantiFast Probe-based Assays in human, mouse, rat GAK

    Additional mRNA sequence: 

    AB208854.1 AK092587.1 AK097714.1 AK126735.1 AK127351.1 AK299554.1 AK309413.1 BC000816.1 
    BC001290.1 BC008668.1 BC063606.1 BC085005.1 BC107076.1 BT007015.1 D88435.1 

    21 DOTS entries:

    DT.100820401  DT.85105285  DT.91646784  DT.97805260  DT.100820398  DT.40195532  DT.100731881  DT.100820407 
    DT.40273133  DT.95375046  DT.100820403  DT.95375051  DT.121268339  DT.92436107  DT.95375047  DT.121268463 
    DT.91735016  DT.100742954  DT.102829199  DT.95202658  DT.99985301 

    Selected AceView cDNA sequences (see all 288):

    BU155663 AI805383 BU848980 AI805567 AA341485 AU122305 BC001290 CA435606 
    BM470164 AI738640 AI218742 CR619409 BM857242 BQ187701 BM856353 BU146554 
    BQ937515 BE893662 CR613787 AW029367 CR596345 BM668589 AI356308 BQ883480 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GAK (see all 22)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^
    SP1:                                      -     -     -           -           -     -                                                                           
    SP2:                                                                                                                                                            
    SP3:                                      -     -     -     -     -     -     -     -     -     -     -     -                                                   
    SP4:                                      -     -     -           -           -     -                       -     -     -     -     -     -     -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b ^ 27 ^ 28a · 28b ^
    SP1:                          -     -                                                     -           -                                                         
    SP2:                          -     -                                                     -           -                             -                           
    SP3:                          -     -                                                     -           -                                                         
    SP4:  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                             
    SP5:                                                                                                  -                                                         

    ExUns: 29 ^ 30a · 30b · 30c ^ 31a · 31b · 31c ^ 32a · 32b · 32c ^ 33
    SP1:  -                       -                 -                     
    SP2:  -                       -                 -                     
    SP3:  -                       -                 -                     
    SP4:  -                       -                 -                     
    SP5:  -                       -                                       


    ECgene alternative splicing isoforms for GAK

    (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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    GAK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCCTGGTG
    GAK Expression
    About this image

    GAK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369607

    UniProtKB/Swiss-Prot: GAK_HUMAN, O14976
    Tissue specificity: Ubiquitous. Highest in testis

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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 animals.

    Orthologs for GAK gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gak1 , 5 cyclin G associated kinase1, 5 81.03(n)1
    83.21(a)1
      5 (53.20 cM)5
    2315801  NM_153569.21  NP_705797.11 
     1085694115 
    chicken
    (Gallus gallus)
    Aves GAK1 cyclin G associated kinase 68.64(n)
    72.36(a)
      427291  XM_424873.4  XP_424873.4 
    lizard
    (Anolis carolinensis)
    Reptilia GAK6
    cyclin G associated kinase
    69(a)
    1 ↔ 1
    GL343201.1(538281-619234)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.74622 Xenopus laevis transcribed sequence with moderate similarity to protein spO14976 (H.sapiens) GAK_HUMAN Cyclin G-associated kinase less 76.41(n)    BG813832.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gak1 cyclin G associated kinase 69.36(n)
    73.81(a)
      571705  XM_003198594.2  XP_003198642.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta auxillin3
    aux1
    protein amino acid phosphorylation
    protein kinase less3
    auxillin1
    41(a)3
    49.94(n)1
    42.34(a)1
      82A13
    405271  NM_001275314.11  NP_001262243.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F46G11.33 serine/threonine-protein kinase 36(a)   X(5818674-5821419)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAK gene
    DNAJC62  PTEN2  TNS12  TPTE2  TENC12  TPTE22  TNS42  TNS32  
    6 SIMAP similar genes for GAK using alignment to 12 protein entries:     GAK_HUMAN (see all proteins):
    TNS1    DNAJC6    BMP2K    BRAF    TNS3    PTEN

    Find genes that share paralogs with GAK           About GenesLikeMe



    (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 GAK (see all 2524)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0405094
    A lung neuroendocrine carcinoma sample4--see VAR_0405092 G D mis40--------
    rs1123094821,2
    C--813194(+) GGGAGC/TGTGGC 1 -- int10--------
    rs286093671,2
    C,F--813224(+) GGAGCA/GTCTGA 1 -- int11Minor allele frequency- G:0.04WA 118
    rs1862145621,2
    --813247(+) AGACCC/TGGAGC 1 -- int10--------
    rs585311151,2
    C,F--813346(+) ATAGCG/AAACGT 1 -- int11Minor allele frequency- A:0.00WA 2
    rs1481295761,2
    --842613(+) GGGCTA/GTGATT 1 -- int10--------
    rs1418938951,2
    C--842730(+) CCCTGC/TGGGGA 1 -- int10--------
    rs1136451541,2
    C,F--842748(+) GGGGCA/GGTGTG 1 -- int12Minor allele frequency- G:0.09WA 120
    rs1886233441,2
    --842754(+) GTGTGA/GAGCCC 1 -- int10--------
    rs1811487361,2
    --842757(+) TGGAGC/TCCACC 1 -- int10--------

    HapMap Linkage Disequilibrium report for GAK (843064 - 926174 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GAK (see all 44):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726719CNV Deletion23290073
    esv2726730CNV Deletion23290073
    esv2726715CNV Deletion23290073
    esv2726722CNV Deletion23290073
    esv2726721CNV Deletion23290073
    esv2726733CNV Deletion23290073
    esv2726717CNV Deletion23290073
    esv2726720CNV Deletion23290073
    esv1655240CNV Deletion17803354
    esv2726735CNV Deletion23290073

    Human Gene Mutation Database (HGMD): GAK
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GAK
    DNA2.0 Custom Variant and Variant Library Synthesis for GAK

    (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: 602052    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for GAK:
    Parkinson's disease

    Find genes that share disorders with GAK           About GenesLikeMe

    Genetic Association Database (GAD): GAK
    Human Genome Epidemiology (HuGE) Navigator: GAK (17 documents)

    Export disorders for GAK 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 GAK gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with GAK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure, expression, and chromosomal localization of human GAK. (PubMed id 9299234)1, 2, 3, 9 Kimura S.H.... Nojima H. (Genomics 1997)
    2. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PubMed id 21292315)1, 4  ....Wood N.W. (Lancet 2011)
    3. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. (PubMed id 20711177)1, 4 Hamza T.H....Payami H. (Nat. Genet. 2010)
    4. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. (PubMed id 18985386)1, 4 Pankratz N....Myers R.H. (Hum. Genet. 2009)
    5. 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. (Genome Res. 2004)
    6. Role of cyclin G-associated kinase in uncoating clathrin-coated vesicles from non-neuronal cells. (PubMed id 10625686)1, 2 Greener T.... Greene L.E. (J. Biol. Chem. 2000)
    7. GAK, a regulator of clathrin-mediated membrane trafficking, localizes not only in the cytoplasm but also in the nucleus. (PubMed id 19371378)1, 9 Sato J....Nojima H. (amp 2009)
    8. Recruitment dynamics of GAK and auxilin to clathrin-coated pits during endocytosis. (PubMed id 16895969)1, 9 Lee D.W....Greene L.E. (J. Cell. Sci. 2006)
    9. GAK, a regulator of clathrin-mediated membrane traffic, also controls centrosome integrity and chromosome congression. (PubMed id 19654208)1, 9 Shimizu H....Nojima H. (J. Cell. Sci. 2009)
    10. Canonical interaction of cyclin G associated kinase with adaptor protein 1 regulates lysosomal enzyme sorting. (PubMed id 17538018)1, 9 Kametaka S....Bonifacino J.S. (Mol. Biol. Cell 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2580 HGNC: 4113 AceView: GAK Ensembl:ENSG00000178950 euGenes: HUgn2580
    ECgene: GAK H-InvDB: GAK

    (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 GAK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GAK Genetics and Cytogenetics in Oncology and Haematology

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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