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FLASH GENE

Symbol

TSFM

contributors: - updated : 11-10-2006

HGNC name	Ts translation elongation factor, mitochondrial
HGNC id	12367

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COXPD2 combined oxidative phosphorylation deficiency-2
Location	12q13-q14      Physical location : 58.176.527 - 58.196.639
Synonym symbol(s)	EFTS, EFTSMT

DNA

TYPE	functioning gene
STRUCTURE	13.00 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif

repetitive sequence   ALU   long interspersed repetitive elements

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - splicing 982 35.4 325 - Ma variant 2 - splicing 1253 - 346 - Strausberg

EXPRESSION

Type

widely

constitutive of

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 liver       moderately   pharynx       highly Endocrine neuroendocrine pituitary     highly Reproductive female system ovary     highly Urinary kidney       moderately

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N terminal mitochondrial signal peptide

HOMOLOGY

interspecies	homolog to bovine EF-TSMT
	homolog to Drosophila CG6412
	homolog to C.elegans F55C5.5

Homologene

FAMILY

EF-TS family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria

basic FUNCTION	inducing the exchange of GDP to GTP
	guanine nucleotide exchange factor that binds to the TUFM
	guanosine diphosphate (GDP) complex, promoting the release of GDP and the formation of a stable TUFM
	TSFM heterodimer

CELLULAR PROCESS

protein, translation/synthesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

associated with the TUFM.GDP complex

INTERACTION

DNA

RNA	binding to aminoacyl-tRNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COXPD2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS