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FLASH GENE

Symbol

TBC1D23

contributors: mct - updated : 17-10-2017

HGNC name	TBC1 domain family member 23
HGNC id	25622

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	64.44 kb

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_001199198 19 - 3886 NP_001186127 - 699 primarily expressed in the fetal and adult brain and spinal cord 2017 28823706 NM_018309 18 - 3841 NP_060779 - 684 - 2017 28823706

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 Nervous brain         Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	conserved TBC domain known to inactivate RABs by accelerating their GTPase activity and thus promoting their inactive GDP-bound state
	a rhodanese domain
	a region in TBC1D23 (469–570 aa), C-terminal to the TBC1 and Rhodanese domains, is responsible for its targeting to the trans-Golgi

HOMOLOGY

Homologene

FAMILY	TBC domain protein family
	family of Tre2-Bub2-Cdc16 (TBC) domain-containing Rab-specific GTPase-activating proteins

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	is a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin-signaling pathways
	exerts its inhibitory effect on innate immunity signaling in a spatiotemporal fashion
	RAB-GAP that inhibits innate immunity
	RAB-independent trafficking role of TBC1D23 that may be critical during hindbrain formation, but not contributory to degeneration
	is likely required for correct cortical development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

likely acts downstream of the TLR-signaling adaptors MYD88 and TICAM2 and upstream of the transcription factor XBP1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCH11

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS