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FLASH GENE

Symbol

GAK

contributors: mct - updated : 14-11-2017

HGNC name	cyclin G associated kinase
HGNC id	4113

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001318134 25 - 4315 NP_001305063 - 1232 - 2017 28135906 NM_005255 28 - 4552 NP_005246 - 1311 - 2017 28135906

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen         Cardiovascular heart         Digestive salivary gland       highly Endocrine parathyroid       highly Nervous nerve cranial nerve     highly Reproductive male system testis     moderately Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

cell cycle

cell cycle, G1

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal serine/threonine kinase domain
	a tensin/auxillin homologous domain
	a DNAJ domain
	a consensus phosphorylation motif (Y412) for SRC
	a C-terminal J-domain, essential for clathrin recycling from endocytic vesicles

HOMOLOGY

intraspecies

homolog to DNAJC6

Homologene

FAMILY

ser/thr family of protein kinases

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus,chromatin/chromosome
	intracellular,nuclear envelope,ext
text	perinuclear area and to the trans-Golgi network
	on the plasma membrane, probably at focals adhesions
	GAK localizes in both cytoplasm and nucleus
	translocated from the centrosome to chromatin at the end of telophase

basic FUNCTION	may be acting as an auxilin homolog that is involved in the uncoating of clathrin- coated vesicles by hsc70 in non-neuronal cell
	regulates clathrin-mediated membrane trafficking in the cytoplasm
	important function of GAK in the nucleus
	two novel functions of GAK: maintenance of proper centrosome maturation and of mitotic chromosome congression
	GAK and CLTC function cooperatively not only in endocytosis, but also in mitotic progression
	is a novel regulator of microtubule generation at kinetochores/chromatin
	role for GAK and clathrin in microtubule outgrowth from kinetochores/chromosomes, suggesting that GAK acts through clathrin to control microtubule outgrowth around chromosomes
	acting as a protein serine/threonine kinase
	is a key regulator of clathrin-coated vesicle trafficking and plays a central role during development

CELLULAR PROCESS	cell cycle

PHYSIOLOGICAL PROCESS

text	regulation of cell cycle

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	binding to cyclin G and CDK5
	is an essential cofactor for HSPA8-dependent uncoating of clathrin-coated vesicles
	interaction of GAK with adaptor protein 1 (JUN) regulates lysosomal enzyme sorting
	GAK and SNCA interact in a pathway involved in Parkinson disease pathogenesis
	interacting with CREBBP, in embryonic orofacial tissue
	GAK modifies SNCA expression levels and affects susceptibility to Parkinson disease

cell & other

REGULATION

induced by

TP53 (direct transcriptional target of the p53 tumor suppressor gene)

Phosphorylated by

phosphorylated by SRC not only at Y412 but also at Y1149

Other

expression oscillates slightly during the cell cycle,peaking at G1

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in both osteosarcoma cell lines and tissue samples when compared with human osteoblasts

Susceptibility

to Parkinson disease (PD)

Variant & Polymorphism other	GAK rs1564282 C/T polymorphism is associated with increased susceptibility to PD

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative Parkinson/dementia Parkinsonism is an attractive therapeutic target for the treatment of PD

ANIMAL & CELL MODELS