Reactome | FAH [cytosol]

FAH [cytosol]

Stable Identifier

R-HSA-71174

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

fumarylacetoacetate hydrolase, Fumarylacetoacetase , Fumarylacetoacetate hydrolase, Beta-diketonase

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:P16930 FAH

Gene Names

FAH

Chain

initiator methionine:1, chain:2-419

Reference Genes

BioGPS Gene:2184 FAH

COSMIC (genes):FAH FAH

CTD Gene:2184 FAH

dbSNP Gene:2184 FAH

ENSEMBL:ENSG00000103876 FAH

ENSEMBL:ENSG00000103876.14 FAH

HGNC:3579 FAH

KEGG Gene (Homo sapiens):2184 FAH

Monarch:2184 FAH

NCBI Gene:2184 FAH

OMIM:613871 FAH

UCSC:P16930 FAH

Reference Transcript

RefSeq:NM_000137.2 FAH

Other Identifiers

11717400_a_at

16803680

202862_PM_at

202862_at

2184

3603934

3603935

3603937

3603938

3603939

3603944

3603945

3603948

3603950

3603951

3603953

3603954

3603958

3603960

3603963

3603965

3603968

3603969

3603970

36876_at

7985268

A_23_P129221

GO:0003824

GO:0004334

GO:0005515

GO:0005576

GO:0005615

GO:0005829

GO:0006520

GO:0006527

GO:0006559

GO:0006572

GO:0006629

GO:0009072

GO:0016787

GO:0043226

GO:0046872

GO:0070062

GO:1902000

HMNXSV003033611

ILMN_1781536

M55150_at

PH_hs_0004222

TC15000747.hg

g4557586_3p_at

Participates

as a component of

FAH dimer [cytosol] (Homo sapiens)

Inferred To

Faa [cytosol] (Drosophila melanogaster)

FAH [cytosol] (Bos taurus)

FAH [cytosol] (Caenorhabditis elegans)

FAH [cytosol] (Canis familiaris)

FAH [cytosol] (Danio rerio)

FAH [cytosol] (Dictyostelium discoideum)

FAH [cytosol] (Gallus gallus)

FAH [cytosol] (Mus musculus)

FAH [cytosol] (Rattus norvegicus)

FAH [cytosol] (Sus scrofa)

fah [cytosol] (Xenopus tropicalis)

Cross References

RefSeq

NP_000128.1

OpenTargets

ENSG00000103876

GeneCards

P16930

HPA

ENSG00000103876-FAH

Ensembl

ENST00000407106, ENSP00000261755, ENST00000561421, ENSP00000385080, ENSG00000103876, ENST00000261755, ENSP00000453347

PRO

P16930

Pharos - Targets

P16930

Orphanet

16018

HMDB Protein

HMDBP00713

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P00533 EGFR	20	p-6Y-EGFR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869138) p-5Y-EGFRvIII [plasma membrane] (R-HSA-1248649) EGFRvIII [plasma membrane] (R-HSA-1214162) p-6Y-EGFR E746_A750del;T790M [plasma membrane] (R-HSA-1182985) p-6Y-EGFR L858R;T790M [plasma membrane] (R-HSA-1182984) p-6Y-EGFR A767_V769dup [plasma membrane] (R-HSA-1996343) p-6Y-EGFR N771_H773dup [plasma membrane] (R-HSA-1996342) p-6Y-EGFR K739_I744dup [plasma membrane] (R-HSA-1996346) p-6Y-EGFR D770_N771insNPG [plasma membrane] (R-HSA-1996335) p-6Y-EGFR E746_A750del [plasma membrane] (R-HSA-1181214) p-6Y-EGFR L858R [plasma membrane] (R-HSA-1173211) p-6Y-EGFR G719S [plasma membrane] (R-HSA-1169417) p-6Y-EGFR L747_P753delinsS [plasma membrane] (R-HSA-1228038) p-6Y-EGFR L747_A750delinsP [plasma membrane] (R-HSA-1228044) p-6Y-EGFR L747_T751del [plasma membrane] (R-HSA-1228041) p-6Y-EGFR L747_S752del [plasma membrane] (R-HSA-1228040) p-6Y-EGFR L747_T751delinsP [plasma membrane] (R-HSA-1228042) p-6Y-EGFR E746_T751delinsA [plasma membrane] (R-HSA-1228037) p-6Y-EGFR E746_S752delinsV [plasma membrane] (R-HSA-1228039) p-6Y-EGFR L861Q [plasma membrane] (R-HSA-1177541)	0.553	2

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