Reactome | TWNK [mitochondrial matrix]

TWNK [mitochondrial matrix]

Stable Identifier

R-HSA-1592222

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

PEO1, Twinkle protein, mitochondrial, PEO1_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q96RR1 TWNK

Gene Names

TWNK, C10orf2, PEO1

Chain

transit peptide:1-31, chain:32-684

Reference Genes

BioGPS Gene:56652 TWNK

COSMIC (genes):TWNK TWNK

CTD Gene:56652 TWNK

dbSNP Gene:56652 TWNK

ENSEMBL:ENSG00000107815 TWNK

HGNC:1160 TWNK

KEGG:hsa:56652 TWNK

Monarch:56652 TWNK

NCBI Gene:56652 TWNK

OMIM:606075 TWNK

UCSC:Q96RR1 TWNK

Reference Transcript

Other Identifiers

11748087_a_at

11756456_a_at

16708370

218590_PM_at

218590_at

3260938

3260939

3260940

3260941

3260942

3260943

3260944

3260945

3260946

3260947

3260948

3260949

3260950

3260951

3260952

3260953

3260954

3260956

43019_at

56652

7929901

A_14_P131052

A_14_P134655

A_23_P138461

A_24_P258073

GE87845

GO:0000166

GO:0000262

GO:0002020

GO:0003677

GO:0003678

GO:0003697

GO:0003824

GO:0004386

GO:0005515

GO:0005524

GO:0005739

GO:0005743

GO:0005759

GO:0006260

GO:0006261

GO:0006264

GO:0006351

GO:0006390

GO:0008289

GO:0016020

GO:0016787

GO:0016853

GO:0016887

GO:0034214

GO:0042645

GO:0042802

GO:0043139

GO:0065003

GO:0140097

GO:0140657

HMNXSV003010364

ILMN_1701243

PH_hs_0001988

TC10000729.hg

g11141908_3p_at

Participates

as an output of

Expression of TWINKLE (TWNK, PEO1) (Homo sapiens)

as a member of

Substrate of LONP1 (mitochondrial matrix) [mitochondrial matrix] (Homo sapiens)

as a component of

TWNK hexamer [mitochondrial matrix] (Homo sapiens)

Inferred To

TWNK [mitochondrial matrix] (Canis familiaris)

TWNK [mitochondrial matrix] (Dictyostelium discoideum)

TWNK [mitochondrial matrix] (Gallus gallus)

TWNK [mitochondrial matrix] (Sus scrofa)

C26H10ORF2 [mitochondrial matrix] (Bos taurus)

twnk-1 [mitochondrial matrix] (Caenorhabditis elegans)

twnk [mitochondrial matrix] (Danio rerio)

twnk [mitochondrial matrix] (Xenopus tropicalis)

Twnk [mitochondrial matrix] (Mus musculus)

Twnk [mitochondrial matrix] (Rattus norvegicus)

mtDNA-helicase [mitochondrial matrix] (Drosophila melanogaster)

Cross References

RefSeq

NP_001157284.1, NP_068602.2

ENSEMBL

ENST00000643860, ENSP00000494389, ENSP00000309595, ENST00000311916, ENSP00000359248, ENSG00000107815, ENST00000370228

OpenTargets

ENSG00000107815

GeneCards

TWNK

HPA

ENSG00000107815-TWNK

PRO

Q96RR1

Pharos - Targets

Q96RR1

Orphanet

TWNK

HMDB Protein

HMDBP11876

PDB

7T8C, 7T8B

Interactors (8)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q08380 LGALS3BP	2	LGALS3BP [extracellular region] (R-HSA-8848882) LGALS3BP [platelet dense granule lumen] (R-HSA-8848916)	0.589	2
UniProt:Q96LW4 PRIPO			0.527	2
UniProt:Q14929 ZNF169	1	ZNF169 [nucleoplasm] (R-HSA-975014)	0.527	2
UniProt:P38159 RBMX	2	RBMX [cytosol] (R-HSA-9715135) RBMX [nucleoplasm] (R-HSA-71939)	0.527	2
UniProt:P51608 MECP2			0.527	3
UniProt:Q86VM9 ZC3H18	1	ZC3H18 [nucleoplasm] (R-HSA-9930040)	0.527	2
UniProt:O94992 HEXI1			0.527	3
UniProt:O14978 ZNF263	1	ZNF263 [nucleoplasm] (R-HSA-1027393)	0.527	3