GAK cyclin G associated kinase [Homo sapiens] - Gene

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Summary

Official Symbol: GAKprovided by HGNC
Official Full Name: cyclin G associated kinaseprovided by HGNC
Primary source: HGNC:4113
See related: Ensembl:ENSG00000178950; HPRD:03631; 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; FLJ16629; FLJ40395; MGC99654
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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 4p16

Sequence :: Chromosome: 4; NC_000004.11 (843065..926174, complement)

See GAK in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

cyclin G associated kinase is associated with Parkinson disease risk and suggest that cyclin G associated kinase and alpha-synuclein interact in a pathway involved in disease pathogenesis
Title: Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study.
GAK is a new candidate for investigation in future studies.
Title: Replication of GWAS associations for GAK and MAPT in Parkinson's disease.
Osteosarcoma cell proliferation and survival are dependent on GAK.
Title: Cyclin G-associated kinase is necessary for osteosarcoma cell proliferation and receptor trafficking.
Observational study of gene-disease association. (HuGE Navigator)
Title: Replication of GWAS associations for GAK and MAPT in Parkinson's disease.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
results identify a role for GAK and clathrin in microtubule outgrowth from kinetochores/chromosomes and suggest that GAK acts through clathrin to control microtubule outgrowth around chromosomes
Title: Cyclin G-associated kinase promotes microtubule outgrowth from chromosomes during spindle assembly.
The GAK localizes in both cytoplasm and nucleus by immunostaining, ectopic expression of GFP-GAK and pull-down assays using dissected GAK fragments.
Title: GAK, a regulator of clathrin-mediated membrane trafficking, localizes not only in the cytoplasm but also in the nucleus.
GAK and CHC cooperated in the same pathway and interacted in mitosis to regulate the formation of a functional spindle.
Title: GAK, a regulator of clathrin-mediated membrane traffic, also controls centrosome integrity and chromosome congression.
Interactions between the PsiG[PDE][PsiLM]-motif sequences in GAK and the AP1-gamma-ear domain are critical for the recruitment of GAK to the trans-Golgi network and the function of GAK in lysosomal enzyme sorting.
Title: Canonical interaction of cyclin G associated kinase with adaptor protein 1 regulates lysosomal enzyme sorting.
GAK enhanced the androgen receptor transcriptional response even at low concentrations of androgens
Title: Cyclin G-associated kinase: a novel androgen receptor-interacting transcriptional coactivator that is overexpressed in hormone refractory prostate cancer.

Submit: New GeneRIF Correction See all (12)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.

Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.

Web-based genome-wide association study identifies two novel Loci and a substantial genetic component for Parkinson's disease.

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Products	Interactant	Other Gene	Source	Pubs	Description
O14976	Q9BXS5	AP1M1	HPRD	PubMed
O14976	Q9Y6Q5	AP1M2	HPRD	PubMed
O14976	Q96CW1	AP2M1	HPRD	PubMed
O14976	P10275	AR	HPRD	PubMed
O14976	O15169	AXIN1	HPRD	PubMed
O14976	P51959	CCNG1	HPRD	PubMed
O14976	Q00535	CDK5	HPRD	PubMed
O14976	Q00610	CLTC	HPRD	PubMed
O14976	Q92793	CREBBP	HPRD	PubMed
O14976	P11142	HSPA8	HPRD	PubMed
O14976	O60763	USO1	HPRD	PubMed
BioGRID:108853	BioGRID:106739	ALK	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108853	BioGRID:113909	AXIN1	BioGRID	PubMed	Two-hybrid
BioGRID:108853	BioGRID:107340	CCNG1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108853	BioGRID:107455	CDK5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108853	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108853	BioGRID:114173	USO1	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
cyclin binding	IEA Inferred from Electronic Annotation more info
heat shock protein binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein kinase activity	IEA Inferred from Electronic Annotation more info
protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
transferase activity, transferring phosphorus-containing groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
focal adhesion	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: cyclin-G-associated kinase

Names: cyclin-G-associated kinase; auxilin-2

NP_005246.2

EC 2.7.11.1

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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)

NM_005255.2 → NP_005246.2 cyclin-G-associated kinase

Status: VALIDATED

Source sequence(s)

AC139887, BC000816, D88435, DA680073

Consensus CDS

CCDS3340.1

UniProtKB/Swiss-Prot

O14976

Related

ENSP00000314499, OTTHUMP00000147520, ENST00000314167, OTTHUMT00000239188

Conserved Domains (5) summary

cd06257
Location:1260 – 1304
Blast Score: 119

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, ...

PRK13729
Location:1061 – 1139
Blast Score: 101

PRK13729; conjugal transfer pilus assembly protein TraB; Provisional

smart00220
Location:51 – 309
Blast Score: 519

S_TKc; Serine/Threonine protein kinases, catalytic domain

pfam10409
Location:570 – 708
Blast Score: 303

PTEN_C2; C2 domain of PTEN tumour-suppressor protein

cl09925
Location:54 – 309
Blast Score: 475

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

843065..926174, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

813547..897389, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC019103.8	None
genomic	AC139887.3 (111053..184773)	None
genomic	CH471131.2	EAW82644.1
		EAW82645.1
		EAW82646.1
mRNA	AB208854.1	BAD92091.1
mRNA	AK097714.1	BAG53518.1
mRNA	AK126735.1	BAC86662.1
mRNA	AK127351.1	None
mRNA	AK131464.1	BAD18609.1
mRNA	AK299554.1	BAG61499.1
mRNA	AK309413.1	None
mRNA	BC000816.1	AAH00816.1
mRNA	BC001290.1	None
mRNA	BC008668.1	AAH08668.1
mRNA	BC063606.1	AAH63606.1
mRNA	BC085005.1	AAH85005.1
mRNA	BC107076.1	AAI07077.1
mRNA	BT007015.1	AAP35661.1
mRNA	D88435.1	BAA22623.1
mRNA	DA680073.1	None

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O14976.2	GenPept	UniProtKB/Swiss-Prot:O14976
Q3B835	GenPept	UniProtKB/TrEMBL:Q3B835
Q59HA5	GenPept	UniProtKB/TrEMBL:Q59HA5
Q5U4P5	GenPept	UniProtKB/TrEMBL:Q5U4P5
Q6P490	GenPept	UniProtKB/TrEMBL:Q6P490
Q6ZMW6	GenPept	UniProtKB/TrEMBL:Q6ZMW6
Q6ZTD0	GenPept	UniProtKB/TrEMBL:Q6ZTD0
Q86U72	GenPept	UniProtKB/TrEMBL:Q86U72