RPIA A61V [cytosol]

Stable Identifier
R-HSA-5660009
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
ribose 5-phosphate isomerase A61V
Locations in the PathwayBrowser for interactor UniProt:Q99757 TXN2
Expand all
Literature References
PubMed ID Title Journal Year
14988808 Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy

Huck, JHJ, Verhoeven, NM, Struys, EA, Salomons, GS, Jakobs, C, van der Knaap, MS

Am J Hum Genet 2004
External Reference Information
External Reference
UniProt:P49247 RPIA
Gene Names
RPIA, RPI
Chain
chain:1-311
Reference Genes
BioGPS Gene:22934 RPIA
COSMIC (genes):RPIA RPIA
CTD Gene:22934 RPIA
dbSNP Gene:22934 RPIA
ENSEMBL:ENSG00000153574 RPIA
HGNC:10297 RPIA
KEGG Gene (Homo sapiens):22934 RPIA
Monarch:22934 RPIA
NCBI Gene:22934 RPIA
OMIM:180430 RPIA
UCSC:P49247 RPIA
Reference Transcript
Other Identifiers
00030+5.3.1.6
0003190044
00051+5.3.1.6
00710+5.3.1.6
11744115_a_at
11744116_s_at
16882658
212973_at
22934
2492939
2492940
2492941
2492943
2492944
2492949
2492952
2492953
2492955
2492957
2492960
2492961
2492962
2492963
38036_at
42620
8043413
A_23_P131646
AAH15529
AAK95569
AY050633
BC015529
CCDS2004
ENSG00000153574
ENSP00000283646
ENST00000283646
ENST00000283646.4
EntrezGene:22934
EntrezGene:RPIA
GE57733
GO:0003674
GO:0004751
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005829
GO:0005975
GO:0006014
GO:0006091
GO:0006098
GO:0008150
GO:0009052
GO:0016853
GO:0019693
GO:0030246
GO:0042802
GO:0043226
GO:0043231
GO:0044281
GO:0048029
HGNC:10297
HPA042620
Hs.79886.0.A1_3p_at
ILMN_1714809
IPR004788
IPR020672
IPR037171
L35035
L35035_at
MIM:180430
MIM:608611
NM_144563
NP_653164
PF06026
PH_hs_0004614
RPIA
RPIA-201
TC02000546.hg
UPI0000037A98
Other forms of this molecule
RPIA [cytosol]
Modified Residues
Name
L-alanine 61 replaced with L-valine
Coordinate
61
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
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
GeneCards
PRO
Orphanet
HMDB Protein
Interactors (20)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q96HA8 NTAQ1      0.817 7
 UniProt:Q8N5M1 ATPF2      0.795 10
 UniProt:Q9H8Y8 GORASP2  2 0.764 6
 UniProt:Q6IPU0 CENPP  2 0.696 7
 UniProt:Q99757 TXN2  3 0.696 5
 UniProt:Q75MZ5 Q75MZ5      0.666 4
 UniProt:Q06124 PTPN11  4 0.666 4
 UniProt:O75716 STK16      0.666 4
 UniProt:Q8TBB1 LNX1  1 0.621 3
 UniProt:P22061-2 PCMT1      0.621 3
 UniProt:P49247 RPIA  2 0.621 3
 UniProt:Q9H0X6 RN208      0.556 3
 UniProt:P32502  1 0.556 3
 UniProt:P22061 PCMT1  1 0.556 3
 UniProt:P38340 NTM1      0.556 3
 UniProt:Q9UJY1 HSPB8  1 0.488 2
 UniProt:Q9NWQ9 CN119      0.488 2
 UniProt:Q96D03 DDT4L      0.488 2
 UniProt:Q9NRD5 PICK1  2 0.488 2
 UniProt:O00560 SDCBP  3 0.488 2