Reactome | FXN(42-210) [mitochondrial inner membrane]

FXN(42-210) [mitochondrial inner membrane]

Stable Identifier

R-HSA-1299454

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial inner membrane

Synonyms

FXN, Frataxin, intermediate, FRDA_HUMAN

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:Q16595 FXN

Gene Names

FXN, FRDA, X25

Chain

transit peptide:1-41, chain:42-210, chain:56-210, chain:78-210, chain:81-210, chain:81-210

Reference Genes

BioGPS Gene:2395 FXN

COSMIC (genes):FXN FXN

CTD Gene:2395 FXN

dbSNP Gene:2395 FXN

ENSEMBL:ENSG00000165060 FXN

ENSEMBL:ENSG00000165060.15 FXN

HGNC:3951 FXN

KEGG Gene (Homo sapiens):2395 FXN

Monarch:2395 FXN

NCBI Gene:2395 FXN

OMIM:606829 FXN

UCSC:Q16595 FXN

Reference Transcript

Other Identifiers

11732322_at

11732323_at

17085672

205565_PM_s_at

205565_s_at

230234_PM_at

230234_at

2395

3169711

3169712

3169713

3169714

3173833

3173834

3173835

3173836

3173841

3173842

3173843

3173873

3173874

3173875

3173877

33202_f_at

3573373

63549_at

70085_f_at

8155699

A_14_P136793

A_23_P60517

A_33_P3319161

GE62283

GE901387

GO:0003824

GO:0004322

GO:0005515

GO:0005737

GO:0005739

GO:0005759

GO:0005829

GO:0006091

GO:0006119

GO:0006783

GO:0006790

GO:0006811

GO:0006879

GO:0007005

GO:0007628

GO:0008198

GO:0008199

GO:0008284

GO:0009060

GO:0009792

GO:0010039

GO:0010722

GO:0012501

GO:0016226

GO:0016491

GO:0016540

GO:0018283

GO:0019230

GO:0023052

GO:0030307

GO:0034755

GO:0034986

GO:0035265

GO:0036211

GO:0040015

GO:0043066

GO:0043085

GO:0043226

GO:0044571

GO:0044572

GO:0046621

GO:0046716

GO:0046872

GO:0048856

GO:0050877

GO:0051349

GO:0051537

GO:0051604

GO:0055065

GO:0055085

GO:0070301

GO:0090201

GO:0099128

GO:0140104

GO:1904231

GO:1904234

GO:1990221

GO:1990229

HMNXSV003005750

HMNXSV003048551

Hs.20685.0.A1_3p_at

ILMN_1774826

ILMN_2342515

PH_hs_0001786

PH_hs_0029881

TC09000318.hg

U43747_s_at

g4503784_3p_at

Participates

as a candidate of

Cargo of TIMM23 PAM [mitochondrial inner membrane] (Homo sapiens)

Other forms of this molecule

FXN(1-210) [mitochondrial intermembrane space]

FXN(1-41) [mitochondrial matrix]

FXN(1-210) [mitochondrial inner membrane]

FXN(81-210) [mitochondrial matrix]

FXN(42-210) [mitochondrial matrix]

Cross References

RefSeq

NP_000135.2, NP_001155178.1, NP_852090.1

OpenTargets

ENSG00000165060

IntEnz

1.16.3.1

HPA

ENSG00000165060-FXN

GeneCards

Q16595

Ensembl

ENSG00000165060, ENST00000396366, ENST00000484259, ENSP00000379652, ENSP00000419243

PRO

Q16595

Pharos - Targets

Q16595

Orphanet

16083

HMDB Protein

HMDBP02901

PDB

5KZ5, 3T3L, 3S4M, 3S5F, 3S5E, 3S5D, 3T3K, 3T3J, 1LY7, 3T3T, 1EKG, 3T3X, 6NZU

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9UN19 DAPP1	2	p-Y139-DAPP1 [plasma membrane] (R-HSA-1112650) DAPP1 [cytosol] (R-HSA-197950)	0.718	6
UniProt:O75925 PIAS1	1	PIAS1 [nucleoplasm] (R-HSA-877307)	0.556	3