Reactome | DCXR H195Tfs*7 [plasma membrane]

DCXR H195Tfs*7 [plasma membrane]

Stable Identifier

R-HSA-5662854

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

L-xylulose reductase H195Tfs*7

Locations in the PathwayBrowser

Expand all

Literature References

PubMed ID	Title	Journal	Year
22042873	Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria King, MC, Fokstuen, S, Lee, MK, Levy-Lahad, E, Motulsky, AG, Maccoss, MJ, Stray, SM, Bereman, MS, Spurrell, CH, Zeligson, S, Pierce, SB, Mandell, JB	Proc. Natl. Acad. Sci. U.S.A.	2011

External Reference Information

External Reference

UniProt:Q7Z4W1 DCXR

Gene Names

DCXR, SDR20C1

Chain

chain:1-244

Reference Genes

BioGPS Gene:51181 DCXR

COSMIC (genes):DCXR DCXR

CTD Gene:51181 DCXR

dbSNP Gene:51181 DCXR

ENSEMBL:ENSG00000169738 DCXR

HGNC:18985 DCXR

KEGG:hsa:51181 DCXR

Monarch:51181 DCXR

NCBI Gene:51181 DCXR

OMIM:608347 DCXR

UCSC:Q7Z4W1 DCXR

Reference Transcript

Other Identifiers

11733742_a_at

16850069

217973_PM_at

217973_at

3774536

3774537

3774538

3774539

3774540

3774541

3774542

3774543

3774544

3774545

3774546

3774547

3774548

3774549

3774550

3774551

3774552

3774553

3774554

3774555

3774556

51181

57729_at

8019357

A_23_P44166

GE63093

GE79226

GO:0003824

GO:0004090

GO:0005515

GO:0005634

GO:0005739

GO:0005829

GO:0005881

GO:0005886

GO:0005902

GO:0005903

GO:0005975

GO:0005997

GO:0006006

GO:0006739

GO:0016020

GO:0016491

GO:0016614

GO:0016655

GO:0019640

GO:0042732

GO:0042802

GO:0043226

GO:0050038

GO:0055086

GO:0070062

GO:1901135

GO:2000379

HMNXSV003050453

ILMN_1681437

PH_hs_0001021

TC17001970.hg

TC17002831.hg

g7705924_3p_s_at

Other forms of this molecule

DCXR [plasma membrane]

Modified Residues

Name

Replacement of residues 195 to 201 by TRPRLC

Disease

Name	Identifier	Synonyms
carbohydrate metabolic disorder	DOID:2978	disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder

Cross References

RefSeq

NP_001182147.1, NP_057370.1

ENSEMBL

ENST00000306869, ENSP00000303356

OpenTargets

ENSG00000169738

ZINC - Substances

DCXR_HUMAN

ZINC target

Q7Z4W1

PRO

Q7Z4W1

GlyGen

Q7Z4W1

PDB

1WNT, 1PR9, 3D3W

IntEnz

1.1.1.10

HPA

ENSG00000169738-DCXR

Pharos - Targets

Q7Z4W1

Orphanet

DCXR

HMDB Protein

HMDBP00306

Interactors (5)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q7Z4W1 DCXR	2	DCXR H195Tfs*7 [plasma membrane] (R-HSA-5662854) DCXR [plasma membrane] (R-HSA-5660054)	0.742	5
UniProt:Q9NS18 GLRX2			0.556	3
UniProt:Q9NYA1-2 SPHK1			0.527	2
UniProt:Q9H4E7 DEF6	1	DEF6 [cytosol] (R-HSA-9691487)	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) 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) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104)	0.483	3

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