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FLASH GENE

Symbol

GUF1

contributors: mct - updated : 17-11-2016

HGNC name	GUF1 GTPase homolog (S. cerevisiae)
HGNC id	25799

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE40 epileptic encephalopathy, early infantile, 40
Location	4p12      Physical location : 44.680.432 - 44.702.696
Synonym name	GUF1 GTPase homolog
	GTPase of unknown function 1
	ribosomal back-translocase
	elongation factor 4 homolog
Synonym symbol(s)	FLJ13220, EF-4, EF4, EIEE40, LepA

DNA

TYPE	functioning gene
STRUCTURE	22.29 kb     17 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021927 17 - 4230 NP_068746 74.2 669 - - NM_001345867 - - 4233 NP_001332796 - 345 - - NM_001345868 - - 4117 NP_001332797 - 629 - - NM_001345869 - - 4125 NP_001332798 - 345 - -

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 esophagus       highly Reproductive female system uterus cervix   moderately   male system testis     moderately Respiratory respiratory tract trachea     predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Connective bone     moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

Other

HOMOLOGY

interspecies	homolog to rattus Guf1 (88.8 pc)
	homolog to murine Guf1 (89.9 pc)

Homologene

FAMILY	GTP-binding elongation factor family
	LepA subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane
text	is located in the mitochondrial matrix and tightly associated with the inner membrane

basic FUNCTION	being a small GTPase mediated signal transduction
	probable function of GUF1 as a fidelity factor of mitochondrial protein synthesis
	triggers back-translocation of the elongating ribosome, causing the translation machinery to move one codon backwards along the mRNA
	it plays a critical role under suboptimal translation conditions
	protein essential in conditions that counteract faithful protein synthesis: it is able to remobilize stuck ribosomes and transiently inhibit the elongation process to optimize protein synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein

binds to mitochondrial ribosomes in a GTP-dependent manner

cell & other

REGULATION

Other

ubiquitinated

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE40

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS