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FLASH GENE

Symbol

TBC1D1

contributors: mct/ - updated : 11-01-2012

HGNC name	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
HGNC id	11578

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Digestive salivary gland       highly Lymphoid/Immune lymph node       highly Nervous brain         Reproductive male system testis       Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens

cell lineage	hematopoietic cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one RAB-GAP TBC domain

secondary structure

RabGAP domains have 16 alpha-helices and no beta-sheet elements

HOMOLOGY

interspecies

homolog to murine Tbc1d1

intraspecies

homolog to structurally similar to a known regulator of insulin-mediated Glut4 translocation

Homologene

FAMILY

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	putative GTPase activator protein of RAB-like small GTPase
	may act as a GTPase activating protein for Rab family protein
	TBC1D1 and TBC1D4 are Rab GTPase-activating proteins (RabGAPs) in skeletal myocytes and adipocytes, respectively, with functions in SLC2A4 vesicle trafficking
	regulates SLC2A4 translocation through its GAP activity, and is a likely AKT1 substrate

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	RAB-like small GTPases
	AKT1 substrate that is phosphorylated at Thr(590)
	interacting with TARDBP (physiological role for TARDBP in regulating body fat and regulate TBC1D1 a gene associated with human obesity)

cell & other

REGULATION

Other	phosphorylation of TBC1D1 is required for SLC2A4 translocation

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to severe obesity in females

Variant & Polymorphism other	R125W affects obesity susceptibility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS