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RPIA ribose 5-phosphate isomerase A [ Homo sapiens (human) ]

Gene ID: 22934, updated on 29-Mar-2020

Summary

Official Symbol
RPIAprovided by HGNC
Official Full Name
ribose 5-phosphate isomerase Aprovided by HGNC
Primary source
HGNC:HGNC:10297
See related
Ensembl:ENSG00000153574 MIM:180430
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RPI; RPIAD
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 30.3), placenta (RPKM 17.7) and 25 other tissues See more
Orthologs

Genomic context

See RPIA in Genome Data Viewer
Location:
2p11.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (88691673..88750929)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (88991176..89050452)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EIF2AK3 divergent transcript Neighboring gene uncharacterized LOC102724805 Neighboring gene uncharacterized LOC105374853 Neighboring gene ankyrin repeat domain 36B pseudogene 2 Neighboring gene uncharacterized LOC105374855 Neighboring gene microRNA 4436a

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
monosaccharide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribose-5-phosphate isomerase activity EXP
Inferred from Experiment
more info
PubMed 
ribose-5-phosphate isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribose-5-phosphate isomerase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
D-ribose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pentose-phosphate shunt TAS
Traceable Author Statement
more info
 
pentose-phosphate shunt, non-oxidative branch IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribose phosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ribose-5-phosphate isomerase
Names
phosphoriboisomerase
ribose 5-phosphate epimerase
NP_653164.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016710.1 RefSeqGene

    Range
    5016..64271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_144563.3NP_653164.2  ribose-5-phosphate isomerase

    See identical proteins and their annotated locations for NP_653164.2

    Status: REVIEWED

    Source sequence(s)
    BC015529, BF063086, CB989690
    Consensus CDS
    CCDS2004.2
    UniProtKB/Swiss-Prot
    P49247
    Related
    ENSP00000283646.3, ENST00000283646.5
    Conserved Domains (1) summary
    cd01398
    Location:81298
    RPI_A; RPI_A: Ribose 5-phosphate isomerase type A (RPI_A) subfamily; RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate, the first step of the non-oxidative branch of the pentose phosphate pathway. This reaction leads to the ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    88691673..88750929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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