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FLASH GENE

Symbol

TBCK

contributors: mct - updated : 02-05-2016

HGNC name	TBC1 domain containing kinase
HGNC id	28261

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IHPRF3 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Location	4q24      Physical location : 106.967.232 - 107.237.861
Synonym symbol(s)	TBCKL, IHPRF3, HSPC302

DNA

TYPE	functioning gene
STRUCTURE	272.39 kb     26 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001163436 26 - 5130 NP_001156908 101 893 - 2014 24576458 NM_033115 24 - 5120 NP_149106 - 830 - 2014 24576458 NM_001163437 26 - 5192 NP_001156909 - 854 - 2014 24576458 NM_001163435 26 - 5309 NP_001156907 101 893 - 2014 24576458 NM_001290768 27 - 5410 NP_001277697 - 721 - 2014 24576458

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a TBC (Tre-2, Bub2, and Cdc16) domain flanked by an N-terminal kinase-like domain
	a rhodanese homology domain at the C terminus

HOMOLOGY

Homologene

FAMILY

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION	is involved in the regulation of MTOR signaling pathway
	may play an important role in cell proliferation, cell growth and actin organization possibly by modulating mTOR pathway
	role in controlling cell proliferation and growth and actin-cytoskeleton organization, mediated by modulation of MTOR

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IHPRF3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS