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Aliases for GAK Gene

Aliases for GAK Gene

  • Cyclin G Associated Kinase 2 3 5
  • EC 2.7.11.1 4 56
  • Auxilin-2 2 3
  • Cyclin-G-Associated Kinase 3
  • DNAJC26 3
  • DNAJ26 3

External Ids for GAK Gene

Previous GeneCards Identifiers for GAK Gene

  • GC04M000847
  • GC04P000873
  • GC04M000832

Summaries for GAK Gene

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for GAK Gene

GAK (Cyclin G Associated Kinase) is a Protein Coding gene. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is DNAJC6.

UniProtKB/Swiss-Prot for GAK Gene

  • 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

Additional gene information for GAK Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAK Gene

Genomics for GAK Gene

GeneHancer (GH) Regulatory Elements for GAK Gene

Promoters and enhancers for GAK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I000929 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 572.7 +0.8 761 3.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 POLR2B E2F8 ZNF207 ZNF143 SP3 GAK TMEM175 DGKQ CRIPAK PCGF3 MAEA PIGG ENSG00000281016 ENSG00000254094 ENSG00000273179
GH04I000934 Enhancer 0.2 Ensembl 550.8 -1.9 -1911 0.6 TMEM175 GAK DGKQ GC04M000940 GC04M000939
GH04I000050 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20 +878.7 878731 6.1 PKNOX1 CBX3 ZSCAN4 SIN3A IRF4 YY1 ETS1 ZNF335 ZNF350 ZNF143 ZNF595 PIGG PCGF3 ZNF718 ZNF141 GAK ENSG00000272588 LOC100129917 IDUA GC04P000106
GH04I000472 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 21.5 +458.6 458596 2.1 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF721 ABCA11P LOC100533735 PIGG CRIPAK PCGF3 GAK MAEA ENSG00000272588 ZNF718
GH04I000123 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 21.3 +807.4 807368 2.4 HDGF PKNOX1 ATF1 SIN3A FEZF1 ZNF2 YY1 POLR2B GLIS2 ZNF213 ZNF718 SNX18P15 PIGG PCGF3 GAK ENSG00000281016 ZNF141 GC04M000098
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GAK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GAK gene promoter:

Genomic Locations for GAK Gene

Genomic Locations for GAK Gene
chr4:849,276-932,390
(GRCh38/hg38)
Size:
83,115 bases
Orientation:
Minus strand
chr4:843,064-926,174
(GRCh37/hg19)

Genomic View for GAK Gene

Genes around GAK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAK Gene

Proteins for GAK Gene

  • Protein details for GAK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14976-GAK_HUMAN
    Recommended name:
    Cyclin-G-associated kinase
    Protein Accession:
    O14976
    Secondary Accessions:
    • Q5U4P5
    • Q9BVY6

    Protein attributes for GAK Gene

    Size:
    1311 amino acids
    Molecular mass:
    143191 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GAK Gene

    Alternative splice isoforms for GAK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAK Gene

Selected DME Specific Peptides for GAK Gene

O14976:
  • EGGFAFVY
  • PPIIHRD
  • LAEGGFA

Post-translational modifications for GAK Gene

Domains & Families for GAK Gene

Gene Families for GAK Gene

Suggested Antigen Peptide Sequences for GAK Gene

Graphical View of Domain Structure for InterPro Entry

O14976

UniProtKB/Swiss-Prot:

GAK_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with GAK: view

Function for GAK Gene

Molecular function for GAK Gene

GENATLAS Biochemistry:
cyclin G-associated kinase,ubiquitously expressed
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for GAK Gene

Phenotypes From GWAS Catalog for GAK Gene

Gene Ontology (GO) - Molecular Function for GAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,TAS --
GO:0005515 protein binding IPI 22645275
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with GAK: view
genes like me logo Genes that share phenotypes with GAK: view

Animal Models for GAK Gene

MGI Knock Outs for GAK:

Clone Products

  • Addgene plasmids for GAK

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GAK Gene

Localization for GAK Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAK Gene

Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network. Cell junction, focal adhesion. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAK gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA,IDA 16155256
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IEA --
GO:0016020 membrane HDA,IDA 19946888
genes like me logo Genes that share ontologies with GAK: view

Pathways & Interactions for GAK Gene

genes like me logo Genes that share pathways with GAK: view

Gene Ontology (GO) - Biological Process for GAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006898 receptor-mediated endocytosis IMP 16155256
GO:0007029 endoplasmic reticulum organization ISS --
GO:0007030 Golgi organization IMP 16155256
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with GAK: view

No data available for SIGNOR curated interactions for GAK Gene

Drugs & Compounds for GAK Gene

(2) Drugs for GAK Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for GAK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with GAK: view

Transcripts for GAK Gene

Unigene Clusters for GAK Gene

Cyclin G associated kinase:
Representative Sequences:

Clone Products

  • Addgene plasmids for GAK

Alternative Splicing Database (ASD) splice patterns (SP) for GAK Gene

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:
SP6:
SP7:
SP8: - - - -
SP9: - - - -
SP10: - - - - - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - -
SP13:
SP14:
SP15:
SP16: - - -
SP17: - -
SP18: - - - - - - - - - - - - - - - -
SP19: - - - -
SP20:
SP21: - - -
SP22:

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: -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

ExUns: 29 ^ 30a · 30b · 30c ^ 31a · 31b · 31c ^ 32a · 32b · 32c ^ 33
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - -
SP15: - - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for GAK Gene

GeneLoc Exon Structure for
GAK
ECgene alternative splicing isoforms for
GAK

Expression for GAK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GAK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GAK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.4) and Cervix (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GAK Gene



Protein tissue co-expression partners for GAK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GAK Gene:

GAK

SOURCE GeneReport for Unigene cluster for GAK Gene:

Hs.369607

mRNA Expression by UniProt/SwissProt for GAK Gene:

O14976-GAK_HUMAN
Tissue specificity: Ubiquitous. Highest in testis.

Evidence on tissue expression from TISSUES for GAK Gene

  • Liver(4.3)
  • Nervous system(4.2)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with GAK: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAK Gene

Orthologs for GAK Gene

This gene was present in the common ancestor of animals.

Orthologs for GAK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAK 33 34
  • 99.14 (n)
dog
(Canis familiaris)
Mammalia GAK 33 34
  • 83.01 (n)
cow
(Bos Taurus)
Mammalia GAK 33 34
  • 81.83 (n)
mouse
(Mus musculus)
Mammalia Gak 33 16 34
  • 81.03 (n)
rat
(Rattus norvegicus)
Mammalia Gak 33
  • 80.73 (n)
oppossum
(Monodelphis domestica)
Mammalia GAK 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAK 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAK 33 34
  • 68.64 (n)
lizard
(Anolis carolinensis)
Reptilia GAK 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gak 33
  • 64.05 (n)
Str.9982 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7462 33
zebrafish
(Danio rerio)
Actinopterygii gak 33 34
  • 69.36 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003715 33
  • 52.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta aux 33 34
  • 49.94 (n)
auxillin 35
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea F46G11.3 35
  • 36 (a)
tag-83 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10856 34
  • 45 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4547 33
Species where no ortholog for GAK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GAK Gene

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

Paralogs for GAK Gene

Paralogs for GAK Gene

genes like me logo Genes that share paralogs with GAK: view

Variants for GAK Gene

Sequence variations from dbSNP and Humsavar for GAK Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
VAR_040509 A lung neuroendocrine carcinoma sample p.Gly962Asp
rs1000012919 -- 923,033(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000023694 -- 887,167(-) C/T intron_variant
rs1000028500 -- 905,103(-) G/T intron_variant
rs1000054784 -- 887,220(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GAK Gene

Variant ID Type Subtype PubMed ID
dgv2701n106 CNV tandem duplication 24896259
dgv2702n106 CNV deletion 24896259
dgv5079n100 CNV gain 25217958
dgv800e201 CNV deletion 23290073
dgv8879n54 CNV loss 21841781
esv1655240 CNV deletion 17803354
esv22328 CNV gain 19812545
esv2726715 CNV deletion 23290073
esv2726716 CNV deletion 23290073
esv2726717 CNV deletion 23290073
esv2726719 CNV deletion 23290073
esv2726720 CNV deletion 23290073
esv2726721 CNV deletion 23290073
esv2726722 CNV deletion 23290073
esv2726723 CNV deletion 23290073
esv2726724 CNV deletion 23290073
esv2726726 CNV deletion 23290073
esv2726727 CNV deletion 23290073
esv2726730 CNV deletion 23290073
esv2726731 CNV deletion 23290073
esv2726732 CNV deletion 23290073
esv2726733 CNV deletion 23290073
esv2726734 CNV deletion 23290073
esv2726735 CNV deletion 23290073
esv2726736 CNV deletion 23290073
esv2726737 CNV deletion 23290073
esv2726738 CNV deletion 23290073
esv2759217 CNV loss 17122850
esv29984 CNV loss 17803354
esv32803 CNV gain 17666407
esv3398607 CNV duplication 20981092
esv3418584 CNV duplication 20981092
esv3563224 CNV deletion 23714750
esv3563225 CNV deletion 23714750
esv3569244 CNV loss 25503493
esv3575660 CNV gain 25503493
nsv1003219 CNV gain 25217958
nsv1008352 CNV gain 25217958
nsv1073280 CNV deletion 25765185
nsv1142596 CNV deletion 24896259
nsv1144062 CNV deletion 24896259
nsv1151095 CNV insertion 26484159
nsv291489 CNV deletion 16902084
nsv292455 CNV deletion 16902084
nsv461147 CNV loss 19166990
nsv461148 CNV loss 19166990
nsv469998 CNV loss 18288195
nsv473730 CNV novel sequence insertion 20440878
nsv508987 CNV insertion 20534489
nsv593223 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv950326 CNV deletion 24416366

Variation tolerance for GAK Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.91; 79.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAK Gene

Human Gene Mutation Database (HGMD)
GAK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAK Gene

Disorders for GAK Gene

Additional Disease Information for GAK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GAK Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GAK Gene

Publications for GAK Gene

  1. Structure, expression, and chromosomal localization of human GAK. (PMID: 9299234) Kimura SH … Nojima H (Genomics 1997) 2 3 4 22 58
  2. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) International Parkinson Disease Genomics Consortium … Wood NW (Lancet (London, England) 2011) 3 44 58
  3. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. (PMID: 20711177) Hamza TH … Payami H (Nature genetics 2010) 3 44 58
  4. GAK, a regulator of clathrin-mediated membrane traffic, also controls centrosome integrity and chromosome congression. (PMID: 19654208) Shimizu H … Nojima H (Journal of cell science 2009) 3 22 58
  5. GAK, a regulator of clathrin-mediated membrane trafficking, localizes not only in the cytoplasm but also in the nucleus. (PMID: 19371378) Sato J … Nojima H (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 22 58

Products for GAK Gene

Sources for GAK Gene

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