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FLASH GENE

Symbol

TOMM40

contributors: mct/npt - updated : 21-08-2015

HGNC name	translocase of outer mitochondrial membrane 40 homolog (yeast)
HGNC id	18001

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

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 tonsils       highly Nervous ganglia sensory ganglia dorsal root     Reproductive male system prostate       Skin/Tegument skin       highly Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

TOM40 family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus,nucleoplasm
	intracellular,nuclear envelope,pore
text	localized on the mitochondrial outer membrane (Kinoshita 2007)

basic FUNCTION	playing an essential role for the import of protein precursors into the mitochondria and an active role in protein sorting for all sub-mitochondrial locations
	import channel essential for protein import into mitochondria
	facilitate translocation of unfolded proteins from the cytosol into the mitochondrial intermembrane space
	TOMM40 complex is a protein translocator in the mitochondrial outer membrane and consists of several different subunits
	is a central subunit that constitutes a protein-conducting channel by forming a beta-barrel structure
	mediates mitochondrial dysfunction induced by SNCA accumulation in Parkinson disease

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM complex)

INTERACTION

DNA

RNA

small molecule

protein	interacts directly with precursors to help them translocate across the outer membrane
	MINOS1 interacts with TOMM40 and SAMM50 independently and the core subunit IMMT is involved in biogenesis of outer membrane beta-barrel proteins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   found in Huntington disease patients relative to the controls

Susceptibility

to late-onset Alzheimer disease (LOAD) to amnestic mild cognitive impairment

Variant & Polymorphism other	risk alleles were approximately twice as frequent in AD subjects with hippocampal atrophy as controls (Potkin 2009)
	TOMM40 rs157581 polymorphism may modulate regional spontaneous brain activity and related to the progression of amnestic mild cognitive impairment (aMCI)

Candidate gene
Marker	TOMM40 downregulation, found in the brain in severe AD may be a potential marker for AD, disease severity or progression
Therapy target

ANIMAL & CELL MODELS