AiPD: Autoinhibited Protein Database

Gene name	Twnk
Protein name	Twinkle mtDNA helicase
Names	Progressive external ophthalmoplegia 1 protein homolog, T7 gp4-like protein with intramitochondrial nucleoid localization, T7-like mitochondrial DNA helicase, Twinkle protein, mitochondrial
Species	Mus musculus (Mouse)
KEGG Pathway	mmu:226153
EC number	5.6.2.3: Enzymes altering nucleic acid conformation
Protein Class

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

1-80 (Predicted disordered autoinhibitory region) PR

1-80 (Predicted disordered autoinhibitory region)

cis-regPred

No accessory elements

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8CIW5-F1	Predicted				AlphaFoldDB

Variant ID(s)	Position	Change	Diseaes Association	Provenance
rs3409281364	13	I>F	No	EVA
rs3389552391	18	R>G	No	EVA
rs224788351	34	G>C	No	EVA
rs3389542705	93	E>K	No	EVA
rs38537890	151	V>D	No	EVA
rs3389547499	200	R>*	No	EVA
rs3409190128	211	T>A	No	EVA
rs3389542397	244	V>L	No	EVA
rs37240507	255	S>G	No	EVA
rs3389557985	263	V>L	No	EVA
rs3389508672	267	E>*	No	EVA
rs3389538083	352	S>R	No	EVA
rs3389543505	543	F>Y	No	EVA
rs3389535755	548	T>I	No	EVA
rs3389538104	572	A>T	No	EVA
rs3389547496	584	A>S	No	EVA
rs3389547498	606	V>A	No	EVA
rs3389552395	618	F>S	No	EVA
rs3389547567	630	S>P	No	EVA
rs3389491607	633	P>A	No	EVA
rs3389535729	663	Q>*	No	EVA
rs3389544639	669	L>S	No	EVA
rs3389557993	677	Q>H	No	EVA

Type	Name	Position	InterPro Accession
domain	DNA helicase, DnaB-like, C-terminal	385 - 636	IPR007694
domain	Archaeal primase DnaG/twinkle-like, TOPRIM domain	260 - 336	IPR034154

		Description
EC Number	5.6.2.3	Enzymes altering nucleic acid conformation
Subcellular Localization	Mitochondrion matrix, mitochondrion nucleoid Mitochondrion inner membrane ; Peripheral membrane protein	Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression (By similarity) Associates with phospholipid membranes via electrostatic binding (By similarity) Preferentially associates with membranes enriched with cardiolipin, a lipid abundant in the mitochondrial inner membrane (By similarity) ATPase and helicase activity is enhanced by binding to lipid membranes (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

Name	Definition
mitochondrial nucleoid	The region of a mitochondrion to which the DNA is confined.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

Name	Definition
5'-3' DNA helicase activity	Unwinding a DNA helix in the 5' to 3' direction, driven by ATP hydrolysis.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
DNA helicase activity	Unwinding of a DNA helix, driven by ATP hydrolysis.
identical protein binding	Binding to an identical protein or proteins.
protease binding	Binding to a protease or a peptidase.
single-stranded DNA binding	Binding to single-stranded DNA.

Name	Definition
cellular response to glucose stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
DNA unwinding involved in DNA replication	The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication.
mitochondrial DNA replication	The process in which new strands of DNA are synthesized in the mitochondrion.
mitochondrial transcription	The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase.
protein hexamerization	The formation of a protein hexamer, a macromolecular structure consisting of six noncovalently associated identical or nonidentical subunits.

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZIW1	TWNK	Twinkle mtDNA helicase	Gallus gallus (Chicken)	PR
Q96RR1	TWNK	Twinkle mtDNA helicase	Homo sapiens (Human)	PR
B5X582	At1g30680	Twinkle homolog protein, chloroplastic/mitochondrial	Arabidopsis thaliana (Mouse-ear cress)	PR