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

Pierce, SB, Spurrell, CH, Mandell, JB, Lee, MK, Zeligson, S, Bereman, MS, Stray, SM, Fokstuen, S, Maccoss, MJ, Levy-Lahad, E, King, MC, Motulsky, AG

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 Gene (Homo sapiens):51181 DCXR
Monarch:51181 DCXR
NCBI Gene:51181 DCXR
OMIM:608347 DCXR
UCSC:Q7Z4W1 DCXR
Reference Transcript
Other Identifiers
0000050014
16850069
1PR9
1WNT
217973_at
23371
23863
3774538
3774539
3774542
3774544
3774546
3774549
3774550
3774552
3774554
3D3W
51181
57729_at
8019357
A0A384NY14
A_23_P44166
AAF14864
AAH01470
AAH03018
AAM54026
AAN59786
AAO15991
AAP35527
AAP97273
AB013846
ADO22147
ADO22254
AF113123
AF139841
AF515623
AF515624
AF515625
BAB64299
BC001470
BC003018
BT006881
CCDS11799
CH471099
DCXR
DCXR-201
EAW89733
ENSG00000169738
ENSP00000303356
ENST00000306869
ENST00000306869.6
EntrezGene:51181
EntrezGene:DCXR
g7705924_3p_s_at
GE79226
GO:0003674
GO:0004090
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005634
GO:0005737
GO:0005856
GO:0005881
GO:0005886
GO:0005902
GO:0005903
GO:0005975
GO:0005997
GO:0006006
GO:0006739
GO:0008150
GO:0009056
GO:0009058
GO:0016020
GO:0016491
GO:0016614
GO:0016655
GO:0019640
GO:0022607
GO:0042732
GO:0042802
GO:0043226
GO:0044105
GO:0044281
GO:0050038
GO:0051289
GO:0055114
GO:0065003
GO:0070062
GQ891285
GQ891392
HGNC:18985
HPA023371
HPA023863
ILMN_1681437
IPR002347
IPR020904
IPR036291
J3KRZ4
J3KS22
J3QL34
MIM:260800
MIM:608347
NM_001195218
NM_016286
NP_001182147
NP_057370
PF13561
PH_hs_0001021
PR00080
PR00081
TC17001970.hg
TC17002831.hg
UPI000004C790
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 2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
ZINC target
PRO
Orphanet
PDB
HMDB Protein
Interactors (3)