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FLASH GENE

Symbol

TWNK

contributors: mct/npt - updated : 17-09-2015

HGNC name	twinkle mtDNA helicase
HGNC id	1160

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_021830 5 - 3584 NP_068602 77.2 684 highly in skeletal, in muscle, in pancreas/ lowly in heart/ colocalized with mt DNA in mitochondrial nucleoids Spelbrink, Sarzy (2007) variant 1 (full-length twinkle) NM_001163812 5 splicing 3584 NP_001157284 66 582 - Spelbrink (2001) variant 2 (truncated twinky) using a downstream exon4 splice donor site that leads to a 43 bp insertion between the regular exon 4-exon 5 sequence could not hexamerize monomer in solution and unable to interact and form higher order stoichiometric complexes with the wt TWINKLE protein NM_001163814 5 - 1844 NP_001157286 - 128 - - NM_001163813 5 - 1800 NP_001157285 - 230 - -

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 Reproductive female system ovary     highly   female system uterus cervix   highly Skin/Tegument skin       highly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a mitochondrial targeting sequence at the N terminus, primase-like domain, required for efficient binding to single-stranded DNA
	a region involved in subunit interactions
	a short linker region
	a C-terminal DNA helicase domain, needed for hexamer formation

mono polymer

hexamer

HOMOLOGY

interspecies	homolog to murine Twinl
	homolog to phage T7 Gp4

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria

basic FUNCTION	DNA helicase required for replication of mitochondrial DNA
	presumed to be critical for lifetime maintenance of human mitochondrial integrity
	mt DNA helicase activity
	playing a crucial role in the maintenance and/or function of specific affected neuronal subpopulations
	nucleus-encoded human mitochondrial (mt)DNA helicase
	strand annealing activity of C10orf2 may play a role in recombination-mediated replication initiation found in the mitochondria of mammalian brain and heart or in replication fork regression during repair of damaged DNA replication forks
	a role of the DNA-binding site of C10orf2 in the observed DNA strand annealing activity
	is the only replicative DNA helicase in mammalian mitochondria
	is essential for nascent H-strand synthesis in the D-loop, thus showing that there is no separate DNA helicase responsible for replication of this region

CELLULAR PROCESS

nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

text	mt DNA integrity

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	recruits or is assembled with mtDNA at the inner membrane to form a replication platform

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PEO3 , IOSCA , PRLTS5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS