Reactome | RFT1 R67C [endoplasmic reticulum membrane]

RFT1 R67C [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4570578

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Protein RFT1 homolog, RFT1_HUMAN

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External Reference Information

External Reference

UniProt:Q96AA3 RFT1

Gene Names

RFT1

Chain

chain:1-541

Reference Genes

BioGPS Gene:91869 RFT1

COSMIC (genes):RFT1 RFT1

CTD Gene:91869 RFT1

dbSNP Gene:91869 RFT1

ENSEMBL:ENSG00000163933 RFT1

HGNC:30220 RFT1

KEGG:hsa:91869 RFT1

Monarch:91869 RFT1

NCBI Gene:91869 RFT1

OMIM:611908 RFT1

UCSC:Q96AA3 RFT1

Reference Transcript

RefSeq:NM_052859.3 RFT1

Other Identifiers

11736396_a_at

11736397_at

11736398_x_at

11736399_at

1558289_PM_at

1558289_at

16955044

16955048

226060_PM_at

226060_at

2417183

2417186

2676584

2676585

2676586

2676587

2676592

2676598

2676599

2676600

2676601

2676602

2676603

2676607

2676608

2676609

2676610

2676611

2676612

2676613

2676614

2676618

2676619

2676620

2676621

2676622

2676624

2676625

2676632

2676633

2676637

2676638

2676639

2676640

2676641

2676642

2774693

2774694

2855222

3980162

77004_at

80577_at

8088090

8088092

91869

A_21_P0003284

A_23_P155441

A_24_P408715

A_24_P93741

A_33_P3267320

GE83670

GE87522

GO:0005215

GO:0005515

GO:0005783

GO:0005789

GO:0006486

GO:0006487

GO:0006488

GO:0006629

GO:0016020

GO:0034202

GO:0034203

GO:0043226

GO:0061024

GO:0140657

GO:1901135

HMNXSV003001186

HMNXSV003013270

HMNXSV003038890

Hs.324473.4.S1_3p_at

Hs2.362856.1.S1_3p_at

ILMN_1736285

PH_hs_0022713

PH_hs_0034931

TC03001465.hg

TC03002919.hg

p21856

Other forms of this molecule

RFT1 [endoplasmic reticulum membrane]

Modified Residues

Name

L-asparagine 67 replaced with L-cysteine

Coordinate

PsiMod

L-asparagine removal [MOD:01633]

A protein modification that effectively removes or replaces an L-asparagine.

L-cysteine residue [MOD:00014]

A protein modification that effectively converts a source amino acid residue to an L-cysteine.

Disease

Name	Identifier	Synonyms
congenital disorder of glycosylation type I	DOID:0050570

Cross References

ENSEMBL

ENST00000296292, ENSP00000296292

OpenTargets

ENSG00000163933

HPA

ENSG00000163933-RFT1

PRO

Q96AA3

Pharos - Targets

Q96AA3

Orphanet

RFT1

Interactors (11)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9Y282 ERGI3			0.556	3
UniProt:P34972 CNR2	1	CNR2 [plasma membrane] (R-HSA-419372)	0.556	3
UniProt:O95859 TSN12			0.556	3
UniProt:Q8NFU1 BEST2	1	BEST2 [plasma membrane] (R-HSA-2744359)	0.556	3
UniProt:Q13520 AQP6	1	AQP6 [transport vesicle membrane] (R-HSA-431741)	0.556	3
UniProt:P15941-11 MUC1			0.556	3
UniProt:Q9Y320 TMX2			0.556	3
UniProt:P50876 RNF144A	1	RNF144A [endosome membrane] (R-HSA-8938771)	0.556	3
UniProt:Q96BA8 CREB3L1	7	CREB3L1 [Golgi membrane] (R-HSA-8874155) CREB3L1(427-519) [Golgi membrane] (R-HSA-8874139) CREB3L1(1-426) [Golgi membrane] (R-HSA-8874153) CREB3L1 [endoplasmic reticulum membrane] (R-HSA-8874157) CREB3L1(1-375) [cytosol] (R-HSA-8874215) CREB3L1(376-426) [Golgi membrane] (R-HSA-8874213) CREB3L1(1-375) [nucleoplasm] (R-HSA-8874222)	0.556	3
UniProt:O95274 LYPD3	2	cleaved GPI-LYPD3 [extracellular region] (R-HSA-8941013) GPI-LYPD3 [plasma membrane] (R-HSA-8940752)	0.527	2
UniProt:P27105 STOM	4	STOM [azurophil granule membrane] (R-HSA-6800997) STOM [plasma membrane] (R-HSA-6806258) STOM [specific granule membrane] (R-HSA-6799569) STOM [tertiary granule membrane] (R-HSA-6800960)	0.508	2