RPIA A61V [cytosol]

Stable Identifier
R-HSA-5660009
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
ribose 5-phosphate isomerase A61V
Icon
RPIA A61V [cytosol] icon
RPIA A61V [cytosol] icon
Locations in the PathwayBrowser
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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

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

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
ENSEMBL_homo_sapiens_GENE:ENSG00000153574.9 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
11744115_a_at
11744116_s_at
16882658
212973_PM_at
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:0003824
GO:0004751
GO:0005515
GO:0005829
GO:0005975
GO:0006014
GO:0006091
GO:0006098
GO:0009052
GO:0016853
GO:0030246
GO:0042802
GO:0044238
GO:0044281
GO:0048029
GO:0055086
GO:0071704
GO:1901135
HMNXSV003032238
Hs.79886.0.A1_3p_at
ILMN_1714809
L35035_at
PH_hs_0004614
TC02000546.hg
Other forms of this molecule
RPIA [cytosol]
Modified Residues
Name
L-alanine 61 replaced with L-valine
Coordinate
61
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
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
OpenTargets
IntEnz
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
Interactors (22)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q96HA8 NTAQ1      0.83 8
 UniProt:Q9H8Y8 GORASP2  2 0.83 8
 UniProt:Q8N5M1 ATPF2      0.805 12
 UniProt:Q8TBB1 LNX1  1 0.742 5
 UniProt:Q99757 TXN2  2 0.718 6
 UniProt:Q6IPU0 CENPP  2 0.718 8
 UniProt:Q06124 PTPN11  4 0.666 4
 UniProt:P22061 PCMT1  1 0.666 4
 UniProt:O75716 STK16      0.666 4
 UniProt:P49247 RPIA  2 0.666 4
 UniProt:P22061-2 PCMT1      0.666 4
 UniProt:Q75MZ5 Q75MZ5      0.666 4
 UniProt:Q9UJY1 HSPB8  1 0.556 3
 UniProt:Q9NWQ9 CN119      0.556 3
 UniProt:Q9H0X6 RN208      0.556 3
 UniProt:Q9NRD5 PICK1  2 0.556 3
 UniProt:O00560 SDCBP  3 0.556 3
 UniProt:P38340 NTM1      0.556 3
 UniProt:Q96D03 DDT4L      0.556 3
 UniProt:P32502  1 0.556 3
 UniProt:Q86VZ2 WDR5B      0.527 4
 UniProt:O43323 DHH  10 0.527 2
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