Reactome | FASTKD2 [mitochondrial matrix]

FASTKD2 [mitochondrial matrix]

Stable Identifier

R-HSA-9837146

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

FAST kinase domain-containing protein 2, mitochondrial, FAKD2_HUMAN

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
18771761	FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency Ghezzi, D, Saada, A, D'Adamo, P, Fernandez-Vizarra, E, Gasparini, P, Tiranti, V, Elpeleg, O, Zeviani, M	Am J Hum Genet	2008

External Reference Information

External Reference

UniProt:Q9NYY8 FASTKD2

Gene Names

FASTKD2, KIAA0971

Chain

transit peptide:1-, chain:-710

Reference Genes

BioGPS Gene:22868 FASTKD2

COSMIC (genes):FASTKD2 FASTKD2

CTD Gene:22868 FASTKD2

dbSNP Gene:22868 FASTKD2

ENSEMBL:ENSG00000118246 FASTKD2

HGNC:29160 FASTKD2

KEGG:hsa:22868 FASTKD2

Monarch:22868 FASTKD2

NCBI Gene:22868 FASTKD2

OMIM:612322 FASTKD2

UCSC:Q9NYY8 FASTKD2

Reference Transcript

Other Identifiers

11724765_a_at

11724766_a_at

11733811_a_at

16890005

205976_PM_at

205976_at

216996_PM_s_at

216996_s_at

22868

229135_PM_at

229135_at

2524744

2524745

2524746

2524747

2524748

2524749

2524752

2524754

2524756

2524757

2524758

2524760

2524764

2524766

2524767

2524768

2524770

2524771

2524772

2524773

2524774

2524775

2524776

2524777

2524778

2524779

2524780

2524782

2524783

2524784

39299_at

53716_at

54425_at

62951_s_at

8047815

A_14_P139341

A_14_P201919

A_23_P209649

A_23_P345830

GE480887

GE85241

GE86283

GO:0000963

GO:0003723

GO:0005515

GO:0005739

GO:0005759

GO:0006396

GO:0006915

GO:0019843

GO:0032543

GO:0035770

GO:0042254

GO:0042645

GO:0043226

GO:0044528

GO:0065003

GO:0070131

GO:0140053

GO:1902775

HMNXSV003041429

Hs.5930.0.A1_3p_at

Hs.84429.2.S1_3p_a_at

ILMN_2053567

PH_hs_0004796

PH_hs_0031373

TC02001221.hg

g7662421_3p_a_at

g7662421_3p_x_at

Participates

as a component of

as an input of

FASTKD2 binds 16S rRNA and MT-ND6 mRNA (Homo sapiens)

Inferred To

Homologues of FASTKD2 [mitochondrial matrix] (Plasmodium falciparum)

Fastkd2 [mitochondrial matrix] (Mus musculus)

Fastkd2 [mitochondrial matrix] (Rattus norvegicus)

Dmel\CG31643 [mitochondrial matrix] (Drosophila melanogaster)

FASTKD2 [mitochondrial matrix] (Bos taurus)

FASTKD2 [mitochondrial matrix] (Canis familiaris)

FASTKD2 [mitochondrial matrix] (Gallus gallus)

FASTKD2 [mitochondrial matrix] (Plasmodium falciparum)

FASTKD2 [mitochondrial matrix] (Sus scrofa)

Cross References

RefSeq

NP_001129665.1, NP_001129666.1, NP_055744.2

ENSEMBL

ENST00000403094, ENST00000236980, ENSP00000236980, ENST00000402774, ENSG00000118246, ENSP00000384929, ENSP00000385990

OpenTargets

ENSG00000118246

GeneCards

FASTKD2

HPA

ENSG00000118246-FASTKD2

PRO

Q9NYY8

Pharos - Targets

Q9NYY8

Interactors (14)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9Y371 SHLB1			0.556	3
UniProt:P13473-2 P134732			0.556	3
UniProt:P84103 SRSF3	1	SRSF3 [nucleoplasm] (R-HSA-72035)	0.527	2
UniProt:P09651 HNRNPA1	2	HNRNPA1 [nucleoplasm] (R-HSA-71927) HNRNPA1 [cytosol] (R-HSA-9727902)	0.527	2
UniProt:Q4U2R6 MRPL51	1	MRPL51 [mitochondrial inner membrane] (R-HSA-5368168)	0.527	2
UniProt:P02792 FTL	4	FTL [cytosol] (R-HSA-434215) FTL [extracellular region] (R-HSA-2187214) FTL [endocytic vesicle lumen] (R-HSA-2299671) FTL [azurophil granule lumen] (R-HSA-6799149)	0.527	3
UniProt:P79522 PRR3			0.527	3
UniProt:Q9NZB2 F120A			0.527	2
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279)	0.519	5
UniProt:Q9NUL7 DDX28			0.483	2
UniProt:Q9NX40 OCAD1			0.483	3
UniProt:Q16629 SRSF7	1	SRSF7 [nucleoplasm] (R-HSA-72029)	0.483	2
UniProt:O15504 NUP42	1	NUPL2 [cytosol] (R-HSA-157697)	0.483	2
UniProt:Q9NVI7 ATD3A			0.483	2

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