Format

Send to:

Choose Destination

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

Gene ID: 2580, updated on 2-Oct-2018

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; Vega:OTTHUMG00000088301
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 Jun 15 11:32:44 2016

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 
clathrin binding IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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, OTTHUMP00000217314, ENST00000511163.5, OTTHUMT00000358799
    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_005255.3NP_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, AW050946, BC000816, D88435, DA680073
    Consensus CDS
    CCDS3340.1
    UniProtKB/Swiss-Prot
    O14976
    Related
    ENSP00000314499.4, OTTHUMP00000147520, ENST00000314167.8, OTTHUMT00000239188
    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 details...Open this link in a new tab

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