Ribose-5-phosphate isomerase (RPIA)

The protein contains 311 amino acids for an estimated molecular weight of 33269 Da.

 

No function (updated: April 1, 2015)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
  3. Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
  4. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  5. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
  6. Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.

Methods

The following articles were analysed to gather the proteome content of erythrocytes.

The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry

The compilation of older studies can be retrieved from the Red Blood Cell Collection database.

The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.

No sequence conservation computed yet.

Interpro domains
Total structural coverage: 83%
Model score: 45

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VariantDescription
RPIAD

The reference OMIM entry for this protein is 180430

Ribose 5-phosphate isomerase a; rpia
Rpi

DESCRIPTION

The RPI gene encodes ribose 5-phosphate isomerase A (EC 5.3.1.6), an enzyme in the pentose phosphate pathway, which is an alternative route for the oxidation of hexoses (Apel et al., 1995).

CLONING

Spencer and Hopkinson (1980) found evidence that ribose 5-phosphate isomerase is determined by a single structural locus and is probably a dimer. They detected no allelic variation in over 200 unrelated persons. By exon trapping, Apel et al. (1995) identified the mouse Rpi gene downstream from the Igk locus. The predicted protein showed 53% sequence identity to the ribose 5-phosphate isomerase A of E. coli. Using the mouse Rpi cDNA as a probe in a human cDNA library of the Burkitt lymphoma cell line Raji, Apel et al. (1995) cloned human RPI. The deduced human and mouse proteins share 93% sequence identity. Northern blot analysis of mouse tissues detected a 1.8-kb transcript with a similar level of expression in all tissues tested except testis, which showed higher expression.

MAPPING

The International Radiation Hybrid Mapping Consortium mapped the RPIA gene to chromosome 2 (TMAP RH98874).

MOLECULAR GENETICS

In a patient who presented with leukoencephalopathy and peripheral neuropathy (van der Knaap et al., 1999), Huck et al. (2004) identified deficiency of ribose 5-phosphate isomerase (608611). Sequence analysis of the RPIA gene demonstrated a frameshift (180430.0001) and a missense (180430.0002) mutation. ... More on the omim web site

Subscribe to this protein entry history

Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated

Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated

June 20, 2017: Protein entry updated
Automatic update: comparative model was added.

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 180430 was added.