RPIA A61V [cytosol]

Stable Identifier
R-HSA-5660009
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ribose 5-phosphate isomerase A61V
Locations in the PathwayBrowser
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
Gene Names
RPIA, RPI
Chain
chain:1-311
Reference Transcript
Other Identifiers
0003190044
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
8043413
A_23_P131646
GE57733
GO:0003674
GO:0004751
GO:0005515
GO:0005575
GO:0005622
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
Hs.79886.0.A1_3p_at
ILMN_1714809
L35035_at
PH_hs_0004614
TC02000546.hg
Other forms of this molecule
Modified Residues
Name
L-alanine 61 replaced with L-valine
Coordinate
61
PsiMod
A protein modification that effectively removes or replaces an L-alanine.
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:Q9H8Y8 GORASP2  2 0.83 8
 UniProt:Q96HA8 NTAQ1      0.83 8
 UniProt:Q8N5M1 ATPF2      0.805 12
 UniProt:Q8TBB1 LNX1  1 0.742 5
 UniProt:Q6IPU0 CENPP  2 0.718 8
 UniProt:Q99757 TXN2  3 0.718 6
 UniProt:Q75MZ5 Q75MZ5      0.666 4
 UniProt:P22061-2 PCMT1      0.666 4
 UniProt:P49247 RPIA  2 0.666 4
 UniProt:Q06124 PTPN11  4 0.666 4
 UniProt:O75716 STK16      0.666 4
 UniProt:O00560 SDCBP  3 0.556 3
 UniProt:Q9UJY1 HSPB8  1 0.556 3
 UniProt:Q9NWQ9 CN119      0.556 3
 UniProt:Q9H0X6 RN208      0.556 3
 UniProt:P32502  1 0.556 3
 UniProt:P22061 PCMT1  1 0.556 3
 UniProt:Q96D03 DDT4L      0.556 3
 UniProt:Q9NRD5 PICK1  2 0.556 3
 UniProt:P38340 NTM1      0.556 3
Cite Us!