Human Gene RPIA (ENST00000283646.5_4) from GENCODE V47lift37
  Description: ribose 5-phosphate isomerase A (from RefSeq NM_144563.3)
Gencode Transcript: ENST00000283646.5_4
Gencode Gene: ENSG00000153574.9_7
Transcript (Including UTRs)
   Position: hg19 chr2:88,991,191-89,050,446 Size: 59,256 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr2:88,991,217-89,049,595 Size: 58,379 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:88,991,191-89,050,446)mRNA (may differ from genome)Protein (311 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RPIA_HUMAN
DESCRIPTION: RecName: Full=Ribose-5-phosphate isomerase; EC=5.3.1.6; AltName: Full=Phosphoriboisomerase;
CATALYTIC ACTIVITY: D-ribose 5-phosphate = D-ribulose 5-phosphate.
PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D- ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.
DISEASE: Defects in RPIA are the cause of ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611]. A patient has been described with a deficiency of ribose 5-phosphate isomerase who presented with leukoencephalopathy and peripheral neuropathy. Proton magnetic resonance spectroscopy of the brain revealed a highly elevated level of the polyols ribitol and D-arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of RPIA, one of the pentose phosphate pathway enzymes, has been demonstrated in fibroblasts.
SIMILARITY: Belongs to the ribose 5-phosphate isomerase family.
SEQUENCE CAUTION: Sequence=AAK95569.1; Type=Frameshift; Positions=24;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPIA";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RPIA
Diseases sorted by gene-association score: ribose 5-phosphate isomerase deficiency* (1752), causalgia (9), mononeuropathy (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.53 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 429.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.6026-0.369 Picture PostScript Text
3' UTR -208.40851-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004788 - Ribose5P_isomerase_typA
IPR020672 - Ribose5P_isomerase_typA_subgr

Pfam Domains:
PF06026 - Ribose 5-phosphate isomerase A (phosphoriboisomerase A)

SCOP Domains:
100950 - NagB/RpiA/CoA transferase-like
75445 - D-ribose-5-phosphate isomerase (RpiA), lid domain

ModBase Predicted Comparative 3D Structure on P49247
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004751 ribose-5-phosphate isomerase activity
GO:0005515 protein binding
GO:0016853 isomerase activity
GO:0030246 carbohydrate binding
GO:0042802 identical protein binding
GO:0048029 monosaccharide binding

Biological Process:
GO:0006014 D-ribose metabolic process
GO:0006098 pentose-phosphate shunt
GO:0009052 pentose-phosphate shunt, non-oxidative branch
GO:0019693 ribose phosphate metabolic process

Cellular Component:
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AY050633 - Homo sapiens ribose 5-phosphate isomerase mRNA, complete cds.
BC015529 - Homo sapiens ribose 5-phosphate isomerase A, mRNA (cDNA clone MGC:9441 IMAGE:3904718), complete cds.
KJ902259 - Synthetic construct Homo sapiens clone ccsbBroadEn_11653 RPIA gene, encodes complete protein.
KR709393 - Synthetic construct Homo sapiens clone CCSBHm_00001830 RPIA (RPIA) mRNA, encodes complete protein.
JD217527 - Sequence 198551 from Patent EP1572962.
JD462286 - Sequence 443310 from Patent EP1572962.
JD098749 - Sequence 79773 from Patent EP1572962.
JD396849 - Sequence 377873 from Patent EP1572962.
L35035 - Homo sapiens ribose 5-phosphate isomerase (RPI) mRNA.
JD440524 - Sequence 421548 from Patent EP1572962.
JD155554 - Sequence 136578 from Patent EP1572962.
JD431294 - Sequence 412318 from Patent EP1572962.
JD565242 - Sequence 546266 from Patent EP1572962.
JD093004 - Sequence 74028 from Patent EP1572962.
JD556564 - Sequence 537588 from Patent EP1572962.
JD565570 - Sequence 546594 from Patent EP1572962.
JD560861 - Sequence 541885 from Patent EP1572962.
JD551061 - Sequence 532085 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
NONOXIPENT-PWY - pentose phosphate pathway (non-oxidative branch)

Reactome (by CSHL, EBI, and GO)

Protein P49247 (Reactome details) participates in the following event(s):

R-HSA-71306 D-ribulose 5-phosphate <=> ribose 5-phosphate
R-HSA-177784 ribose 5-phosphate <=> D-ribulose 5-phosphate
R-HSA-71336 Pentose phosphate pathway (hexose monophosphate shunt)
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000283646.1, ENST00000283646.2, ENST00000283646.3, ENST00000283646.4, NM_144563, P49247, Q541P9, Q96BJ6, RPI, RPIA , RPIA_HUMAN, uc317kdc.1, uc317kdc.2
UCSC ID: ENST00000283646.5_4
RefSeq Accession: NM_144563.3
Protein: P49247 (aka RPIA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.