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    GAK cyclin G associated kinase [ Homo sapiens (human) ]

    Gene ID: 2580, updated on 21-Apr-2019

    Summary

    Official Symbol
    GAKprovided by HGNC
    Official Full Name
    cyclin G associated kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:4113
    See related
    Ensembl:ENSG00000178950 MIM:602052
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DNAJ26; DNAJC26
    Summary
    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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in testis (RPKM 16.1), colon (RPKM 15.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See GAK in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (849275..932390, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (843065..926174, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374339 Neighboring gene complexin 1 Neighboring gene uncharacterized LOC105374340 Neighboring gene uncharacterized LOC105374341 Neighboring gene transmembrane protein 175 Neighboring gene diacylglycerol kinase theta Neighboring gene solute carrier family 26 member 1 Neighboring gene iduronidase alpha-L-

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
    NHGRI GWA Catalog
    Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
    NHGRI GWA Catalog
    Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
    NHGRI GWA Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    NHGRI GWA Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with cyclin G associated kinase (GAK) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
      Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ16629, FLJ40395, MGC99654

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    chaperone binding TAS
    Traceable Author Statement
    more info
    PubMed 
    cyclin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Golgi to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    chaperone cofactor-dependent protein refolding TAS
    Traceable Author Statement
    more info
    PubMed 
    clathrin coat disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    clathrin-coated pit assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    clathrin-dependent endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoplasmic reticulum organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    negative regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to Golgi apparatus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    synaptic vesicle uncoating ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane HDA PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cyclin-G-associated kinase
    Names
    auxilin-2
    NP_001305063.1
    NP_005246.2
    XP_005272325.1
    XP_005272327.1
    XP_011511727.1
    XP_011511728.1
    XP_011511729.1
    XP_011511730.1
    XP_011511731.1
    XP_011511732.1
    XP_011511733.1
    XP_011511734.1
    XP_011511736.1
    XP_016863480.1
    XP_016863481.1
    XP_016863482.1
    XP_016863483.1
    XP_016863484.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001318134.1NP_001305063.1  cyclin-G-associated kinase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three consecutive exons in the 5' coding region but maintains the same reading frame as variant 1. The encoded isoform (3) has the same N- and C-termini, but is shorter than isoform 1.
      Source sequence(s)
      AA287110, AI138676, AK299554, AW050946, BC000816, BC085005, DA680073
      Consensus CDS
      CCDS82902.1
      UniProtKB/Swiss-Prot
      O14976
      UniProtKB/TrEMBL
      B4DS37
      Related
      ENSP00000421361.1, ENST00000511163.5
      Conserved Domains (4) summary
      cd06257
      Location:11811225
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:53230
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      pfam10409
      Location:491629
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
      cl21453
      Location:46241
      PKc_like; Protein Kinases, catalytic domain
    2. NM_005255.4NP_005246.2  cyclin-G-associated kinase isoform 1

      See identical proteins and their annotated locations for NP_005246.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA287110, AI138676, BC000816, D88435, DA680073
      Consensus CDS
      CCDS3340.1
      UniProtKB/Swiss-Prot
      O14976
      Related
      ENSP00000314499.4, ENST00000314167.9
      Conserved Domains (4) summary
      cd06257
      Location:12601304
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:41309
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14036
      Location:39320
      STKc_GAK; Catalytic domain of the Serine/Threonine protein kinase, cyclin G-Associated Kinase
      pfam10409
      Location:570708
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      849275..932390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007991.1XP_016863480.1  cyclin-G-associated kinase isoform X7

    2. XM_011513427.2XP_011511729.1  cyclin-G-associated kinase isoform X3

      Conserved Domains (4) summary
      cd06257
      Location:12741318
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:41279
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      pfam10409
      Location:540678
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
      cl21453
      Location:39290
      PKc_like; Protein Kinases, catalytic domain
    3. XM_011513428.2XP_011511730.1  cyclin-G-associated kinase isoform X4

      Conserved Domains (4) summary
      cd06257
      Location:12551299
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:41309
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14036
      Location:39320
      STKc_GAK; Catalytic domain of the Serine/Threonine protein kinase, cyclin G-Associated Kinase
      pfam10409
      Location:570708
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    4. XM_005272268.2XP_005272325.1  cyclin-G-associated kinase isoform X5

      Conserved Domains (4) summary
      cd06257
      Location:12491293
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:41309
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14036
      Location:39320
      STKc_GAK; Catalytic domain of the Serine/Threonine protein kinase, cyclin G-Associated Kinase
      pfam10409
      Location:570708
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    5. XM_011513426.2XP_011511728.1  cyclin-G-associated kinase isoform X2

      Conserved Domains (4) summary
      cd06257
      Location:12931337
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:41309
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14036
      Location:39320
      STKc_GAK; Catalytic domain of the Serine/Threonine protein kinase, cyclin G-Associated Kinase
      pfam10409
      Location:570708
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    6. XM_011513431.2XP_011511733.1  cyclin-G-associated kinase isoform X9

      Conserved Domains (4) summary
      cd06257
      Location:12211265
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:41309
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14036
      Location:39320
      STKc_GAK; Catalytic domain of the Serine/Threonine protein kinase, cyclin G-Associated Kinase
      pfam10409
      Location:570708
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    7. XM_005272270.2XP_005272327.1  cyclin-G-associated kinase isoform X12

      Conserved Domains (4) summary
      cd06257
      Location:11851229
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:41309
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14036
      Location:39320
      STKc_GAK; Catalytic domain of the Serine/Threonine protein kinase, cyclin G-Associated Kinase
      pfam10409
      Location:570708
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    8. XM_011513425.2XP_011511727.1  cyclin-G-associated kinase isoform X1

      Conserved Domains (4) summary
      cd06257
      Location:13041348
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:41309
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14036
      Location:39320
      STKc_GAK; Catalytic domain of the Serine/Threonine protein kinase, cyclin G-Associated Kinase
      pfam10409
      Location:570708
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
    9. XM_011513434.2XP_011511736.1  cyclin-G-associated kinase isoform X13

      Conserved Domains (4) summary
      cd06257
      Location:11681212
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:1173
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      pfam10409
      Location:434572
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
      cl21453
      Location:1184
      PKc_like; Protein Kinases, catalytic domain
    10. XM_017007995.1XP_016863484.1  cyclin-G-associated kinase isoform X15

    11. XM_011513432.2XP_011511734.1  cyclin-G-associated kinase isoform X10

      Conserved Domains (4) summary
      cd06257
      Location:12161260
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:1221
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      pfam10409
      Location:482620
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
      cl21453
      Location:1232
      PKc_like; Protein Kinases, catalytic domain
    12. XM_017007993.1XP_016863482.1  cyclin-G-associated kinase isoform X13

      Conserved Domains (4) summary
      cd06257
      Location:11681212
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:1173
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      pfam10409
      Location:434572
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
      cl21453
      Location:1184
      PKc_like; Protein Kinases, catalytic domain
    13. XM_011513429.2XP_011511731.1  cyclin-G-associated kinase isoform X6

      Conserved Domains (4) summary
      cd06257
      Location:12421286
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:24247
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      pfam10409
      Location:508646
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
      cl21453
      Location:25258
      PKc_like; Protein Kinases, catalytic domain
    14. XM_017007992.1XP_016863481.1  cyclin-G-associated kinase isoform X11

    15. XM_011513430.1XP_011511732.1  cyclin-G-associated kinase isoform X8

      Conserved Domains (4) summary
      cd06257
      Location:12251269
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      smart00220
      Location:53230
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      pfam10409
      Location:491629
      PTEN_C2; C2 domain of PTEN tumour-suppressor protein
      cl21453
      Location:46241
      PKc_like; Protein Kinases, catalytic domain
    16. XM_017007994.1XP_016863483.1  cyclin-G-associated kinase isoform X14

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001286833.1: Suppressed sequence

      Description
      NM_001286833.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Support Center