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FLASH GENE

Symbol

TOMM20

contributors: mct - updated : 05-02-2018

HGNC name	translocase of outer mitochondrial membrane 20 homolog (yeast)
HGNC id	20947

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q42.3      Physical location : 235.272.659 - 235.292.256
Synonym name	mitochondrial 20 kDa outer membrane protein
	outer mitochondrial membrane receptor Tom20
Synonym symbol(s)	KIAA0016, MAS20, MOM19, TOM20, MASP20P, MGC117367

DNA

TYPE	functioning gene
STRUCTURE	19.60 kb     5 Exon(s)

regulatory sequence	Binding site   transcription factor
text structure	a NRF-2 binding motifs in the 5'-flanking region
	two NRF-1 binding motifs in the 5'-flanking region (distal NRF-1 binding site is not functional)

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_014765 5 - 3407 NP_055580 - 145 - 1998 9748310

EXPRESSION

Type

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 mouth tongue     highly Endocrine parathyroid       moderately Hearing/Equilibrium ear inner cochlea Corti moderately Homo sapiens Nervous brain       moderately Reproductive male system testis     moderately Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     moderately

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Homo sapiens Hearing / Equilibrium hair cell receptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a transmembrane segment containing critical AAs essential for docking the TOMM20 receptor into its correct environment within the TOM complex
	N-terminal TOMM20-binding element essential for targeting to mitochondria
	C-terminal element increasing efficiency of protein import in the step prior to translocation across the inner membrane

mono polymer

complex

HOMOLOGY

interspecies	homolog to yeast S.cerevisiae Mas20p
	ortholog to rattus Tomm20 (97.9pc)
	ortholog to murine Tomm20 (99.3pc)
	ortholog to Drosophila Tom20 (59.4pc)

Homologene

FAMILY

TOM20 family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
text	mitochondrial outer membrane translocase complex
	distributions of clusters of TOMM20 and of TOMM22 follow an inner-cellular gradient from the perinuclear to the peripheral mitochondria

basic FUNCTION	import receptor involved in the recognition and translocation of cytosolically synthesized mitochondrial preproteins
	functioning with TOMM22 as the transit peptide receptor at the surface of the mitochondrion outer membrane
	facilitating the movement of preproteins into the TOMM40 translocation pore
	major import receptor that recognizes preferentially mitochondrial presequences
	apparently involved in the same step or sequential steps along the same pathway of targeting signal recognition in import as TOMM22
	master receptor for protein import into mitochondria
	recognizes the targeting sequence on incoming mitochondrial precursor proteins, binds these protein ligands, and then transfers them to the core complex for translocation across the outer membrane
	mediates localization of mRNAs to mitochondria in a translation-dependent manner
	plays an essential role in specificity of mitochondrial protein import
	has a dual role in protein import into mitochondria: recognition of the targeting signal in the presequence and tethering the presequence to the TOMM40 complex to increase import efficiency
	functions as a receptor for the N-terminal presequence of mitochondrial-precursor proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

mitochondrial transport

PATHWAY

metabolism

signaling

a component	component of the mitochondrial import complex
	central component of a mitochondrial receptor complex
	mitochondrial outer membrane translocase complex

INTERACTION

DNA

RNA

small molecule

protein	TOMM22 and leader sequence of nuclear coded matrix space precursor proteins
	competes with the chaperones for TOMM70A binding
	AIP-TOMM20 recognition contributes to cell survival in development and cancer by mediating the mitochondrial import of BIRC5
	FBXO7 ubiquitinated TOMM20, and its levels correlated with FBXO7 expression, indicating a stabilizing effect

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in neoplastic lymphocytes 2)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	TOMM20 can be used in the inner ear as a marker for mitochondrial protein import
Therapy target

ANIMAL & CELL MODELS