Reactome | SUMF1 [endoplasmic reticulum lumen]

SUMF1 [endoplasmic reticulum lumen]

Stable Identifier

R-HSA-1614316

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum lumen

Synonyms

Sulfatase-modifying factor 1, SUMF1_HUMAN

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q8NBK3 SUMF1

Gene Names

SUMF1, FGE, PSEC0152, UNQ3037/PRO9852

Chain

signal peptide:1-33, chain:34-374

Reference Genes

BioGPS Gene:285362 SUMF1

COSMIC (genes):SUMF1 SUMF1

CTD Gene:285362 SUMF1

dbSNP Gene:285362 SUMF1

ENSEMBL:ENSG00000144455 SUMF1

ENSEMBL_homo_sapiens_GENE:ENSG00000144455.14 SUMF1

HGNC:20376 SUMF1

KEGG Gene (Homo sapiens):285362 SUMF1

Monarch:285362 SUMF1

NCBI Gene:285362 SUMF1

OMIM:607939 SUMF1

UCSC:Q8NBK3 SUMF1

Reference Transcript

Other Identifiers

100130207

11720731_a_at

11720732_a_at

11747815_a_at

16950269

226850_PM_at

226850_at

2660884

2660885

2660886

2660887

2660888

2660889

2660891

2660892

2660894

2660895

2660896

2660898

2660899

2660902

2660903

2660904

2660905

285362

52973_at

8085094

GE555731

GO:0003824

GO:0005515

GO:0005783

GO:0005788

GO:0006629

GO:0016491

GO:0018158

GO:0036211

GO:0042802

GO:0043226

GO:0043687

GO:0046479

GO:0046872

GO:0120147

GO:1901135

GO:1903135

HMNXSV003036233

HMNXSV003052584

Hs.302267.1.S1_3p_at

ILMN_1753472

PH_hs_0029816

Participates

as an input of

SUMF2 binds SUMF1, inhibiting SUMF1-mediated activation of arylsulfatases (Homo sapiens)

as a component of

SUMF1:SUMF2 [endoplasmic reticulum lumen] (Homo sapiens)

Inferred To

Dmel\CG7049 [endoplasmic reticulum lumen] (Drosophila melanogaster)

SUMF1 [endoplasmic reticulum lumen] (Bos taurus)

SUMF1 [endoplasmic reticulum lumen] (Canis familiaris)

SUMF1 [endoplasmic reticulum lumen] (Gallus gallus)

SUMF1 [endoplasmic reticulum lumen] (Mus musculus)

SUMF1 [endoplasmic reticulum lumen] (Sus scrofa)

sumf1 [endoplasmic reticulum lumen] (Xenopus tropicalis)

Sumf1 [endoplasmic reticulum lumen] (Rattus norvegicus)

Cross References

RefSeq

NP_877437.2, NP_001158146.1, NP_001158147.1

OpenTargets

ENSG00000144455

GeneCards

Q8NBK3

HPA

ENSG00000144455-SUMF1

Ensembl

ENSP00000373355, ENSP00000384977, ENSP00000272902, ENST00000405420, ENSG00000144455, ENST00000272902, ENST00000383843

PRO

Q8NBK3

Pharos - Targets

Q8NBK3

Orphanet

15570

PDB

1Y1E, 2AIJ, 2AII, 1Z70, 5SSX, 2HI8, 1Y1J, 1Y1I, 5SSY, 5SSZ, 1Y1H, 1Y1G, 2HIB, 2AIK, 2AFY, 8ARU, 1Y1F, 2AFT

Interactors (13)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q8NBJ7 SUMF2	1	SUMF2 [endoplasmic reticulum lumen] (R-HSA-1614305)	0.637	9
UniProt:P51688 SGSH	5	SGSH R245H [lysosomal lumen] (R-HSA-2214347) SGSH C1091del [lysosomal lumen] (R-HSA-2214344) SGSH S66W [lysosomal lumen] (R-HSA-2214340) SGSH R74C [lysosomal lumen] (R-HSA-2214341) SGSH [lysosomal lumen] (R-HSA-1678689)	0.623	3
UniProt:Q99895 CTRC			0.589	2
UniProt:P15289 ARSA	9	ARSA(19-444) [extracellular region] (R-HSA-6806192) ARSA(448-507) [extracellular region] (R-HSA-6806249) ARSA(19-444) [azurophil granule lumen] (R-HSA-6798776) ARSA(448-507) [azurophil granule lumen] (R-HSA-6798775) ARSA(448-507) [lysosomal lumen] (R-HSA-1606798) OxA-ARSA(19-444) [lysosomal lumen] (R-HSA-508497) OxA-ARSA(19-444) [endoplasmic reticulum lumen] (R-HSA-1614359) ARSA(19-444) [endoplasmic reticulum lumen] (R-HSA-1614334) ARSA(448-507) [endoplasmic reticulum lumen] (R-HSA-1614307)	0.527	3
UniProt:P15586 GNS	10	GNS [Golgi lumen] (R-HSA-434323) GNS [lysosomal lumen] (R-HSA-434208) GNS Q390* [lysosomal lumen] (R-HSA-2245231) GNS Q272* [lysosomal lumen] (R-HSA-2245247) GNS S94I [lysosomal lumen] (R-HSA-2245243) GNS R355* [lysosomal lumen] (R-HSA-2245238) OxA-GNS [lysosomal lumen] (R-HSA-1638063) GNS [ficolin-1-rich granule lumen] (R-HSA-6800961) GNS [extracellular region] (R-HSA-6806208) GNS [azurophil granule lumen] (R-HSA-6799222)	0.527	4
UniProt:P04066 FUCA1	3	FUCA1 [lysosomal lumen] (R-HSA-5693804) FUCA1 [extracellular region] (R-HSA-6806209) FUCA1 [azurophil granule lumen] (R-HSA-6798773)	0.527	2
UniProt:P16233 PNLIP	1	PNLIP [extracellular region] (R-HSA-192419)	0.527	2
UniProt:Q96EG1 ARSG	2	OxA-ARSG [endoplasmic reticulum lumen] (R-HSA-1614304) ARSG [endoplasmic reticulum lumen] (R-HSA-1614361)	0.527	2
UniProt:Q9BS26 ERP44	2	ERP44 [extracellular region] (R-HSA-6806302) ERP44 [specific granule lumen] (R-HSA-6799567)	0.527	2
UniProt:Q9P246 STIM2			0.527	2
UniProt:P22304 IDS	6	IDS (456-550) R468L [lysosomal lumen] (R-HSA-2210364) IDS (34-455) R443* [lysosomal lumen] (R-HSA-2210360) IDS (456-550) R468W [lysosomal lumen] (R-HSA-2210368) IDS (456-550) R468Q [lysosomal lumen] (R-HSA-2457604) IDS(34-455) [lysosomal lumen] (R-HSA-1678626) IDS(456-550) [lysosomal lumen] (R-HSA-1678681)	0.527	2
UniProt:P08842 STS	3	STS [endoplasmic reticulum lumen] (R-HSA-1614318) OxA-STS [endoplasmic reticulum lumen] (R-HSA-1614333) OxA-STS [endoplasmic reticulum membrane] (R-HSA-1606833)	0.527	2
UniProt:Q8NBK3 SUMF1	1	SUMF1 [endoplasmic reticulum lumen] (R-HSA-1614316)	0.524	3

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