Seroatlas · Human Serome Atlas

RPIA

Ribose-5-phosphate isomerase

Also known as: RPIA_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P49247
Gene
RPIA
Ensembl
ENSG00000153574
Chromosome
2
Canonical length
311 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

311 residues, UniProt reviewed canonical sequence.

>P49247|RPIA
     1  MQRPGPFSTL YGRVLAPLPG RAGGAASGGG GNSWDLPGSH VRLPGRAQSG TRGGAGNTST
    61  SCGDSNSICP APSTMSKAEE AKKLAGRAAV ENHVRNNQVL GIGSGSTIVH AVQRIAERVK
   121  QENLNLVCIP TSFQARQLIL QYGLTLSDLD RHPEIDLAID GADEVDADLN LIKGGGGCLT
   181  QEKIVAGYAS RFIVIADFRK DSKNLGDQWH KGIPIEVIPM AYVPVSRAVS QKFGGVVELR
   241  MAVNKAGPVV TDNGNFILDW KFDRVHKWSE VNTAIKMIPG VVDTGLFINM AERVYFGMQD
   301  GSVNMREKPF C

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RPIA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
85 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 85 nTPM
  • thymus: 38 nTPM
  • placenta: 32 nTPM
  • tonsil: 30 nTPM
  • skeletal muscle: 28 nTPM
  • lymph node: 26 nTPM

Single-cell type

  • cytotrophoblasts: 289 nCPM
  • esophageal apical cells: 285 nCPM
  • migrating cytotrophoblasts: 251 nCPM
  • syncytiotrophoblasts: 245 nCPM
  • megakaryocytes: 118 nCPM
  • erythrocyte progenitors: 114 nCPM

Immune cell

  • eosinophil: 37 nTPM
  • naive CD4 T-cell: 34 nTPM
  • memory B-cell: 32 nTPM
  • naive CD8 T-cell: 28 nTPM
  • memory CD8 T-cell: 25 nTPM
  • memory CD4 T-cell: 24 nTPM

Brain region

  • cerebellum: 7.3 nTPM
  • hypothalamus: 7.3 nTPM
  • choroid plexus: 6.9 nTPM
  • spinal cord: 6.8 nTPM
  • white matter: 6.7 nTPM
  • medulla oblongata: 6.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RPIA.

Disease | AllUniProt

Conditions RPIA is implicated in, by any mechanism.

  • Ribose 5-phosphate isomerase deficiency (RPIAD) MIM:608611

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 150 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.89
gnomAD pLI
0
gnomAD missense Z
0.96
DepMap mean gene effect
-0.33
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • NagB/RpiA transferase-like
  • Ribose 5-phosphate isomerase, type A
  • Ribose-5-phosphate isomerase, type A, subgroup
  • Ribose 5-phosphate isomerase A (phosphoriboisomerase A)

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RPIA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RPIA as an antibody target. Whether an autoantibody or antibody against RPIA could matter depends on whether native RPIA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RPIA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RPIA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/RPIA. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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