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FLASH GENE

Symbol

GTPBP3

contributors: mct/npt - updated : 07-01-2015

HGNC name	GTP binding protein 3 (mitochondrial)
HGNC id	14880

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032620 9 - 2589 NP_116009 52 492 - 2008 18852288 NM_133644 8 - 2685 NP_598399 55 524 - 2008 18852288 NM_001128855 9 - 2526 NP_001122327 - 471 - 2008 18852288 NM_001195422 - - 2605 NP_001182351 - 514 - 2008 18852288

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 blood / hematopoietic spleen       moderately   thymus       moderately Cardiovascular heart       highly Digestive intestine small intestine     moderately   intestine large intestine colon   lowly   liver       highly Nervous brain       moderately Respiratory lung       lowly Urinary kidney       highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain mediates a potassium-independent dimerization, which appears as an evolutionarily conserved property of the protein family (Villaroya 2008)
	a mitochondria targeting pre-sequence
	two GTP-binding domains and a SH3 domain
	a p21 RASlike domain
	an SRC homology-3 (SH3) domain

HOMOLOGY

interspecies	ortholog to murine Gtpbp3
	ortholog to rattus Gtpbp3_predicted

Homologene

FAMILY	GTP-binding protein family
	era/mnmE GTP-binding protein family
	MnmE subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus

basic FUNCTION	modulates the manifestation of mitochondrial A1555G mutation associated to deafness
	multidomain protein involved in mitochondrial tRNA modification (Villaroya 2008)
	important function for GTPBP3 in efficient mitochondrial protein synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function contribute to the pathogenesis of some oxidative phosphorylation diseases (Villaroya 2008)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS