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RPE ribulose-5-phosphate-3-epimerase [ Homo sapiens (human) ]

Gene ID: 6120, updated on 2-Nov-2024

Summary

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Official Symbol
RPEprovided by HGNC
Official Full Name
ribulose-5-phosphate-3-epimeraseprovided by HGNC
Primary source
HGNC:HGNC:10293
See related
Ensembl:ENSG00000197713 MIM:180480; AllianceGenome:HGNC:10293
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RPE2-1
Summary
Enables D-ribulose-phosphate 3-epimerase activity; metal ion binding activity; and protein homodimerization activity. Involved in carbohydrate metabolic process and pentose-phosphate shunt. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 5.9), adrenal (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

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See RPE in Genome Data Viewer
Location:
2q34
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (210002638..210022260)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (210483346..210502965)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (210867362..210886984)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene microtubule associated protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210616149-210616706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210616707-210617263 Neighboring gene RNA, 5S ribosomal pseudogene 118 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210638115-210638616 Neighboring gene Sharpr-MPRA regulatory region 8450 Neighboring gene unc-80 homolog, NALCN channel complex subunit Neighboring gene snail family zinc finger 1 pseudogene 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:210729763-210730300 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:210729225-210729762 Neighboring gene Sharpr-MPRA regulatory region 8902 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:210782411-210783610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17054 Neighboring gene KANSL1L antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210911567-210912293 Neighboring gene KAT8 regulatory NSL complex subunit 1 like Neighboring gene ribosomal protein L6 pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Phosphoribosylpyrophosphate synthesis from glucose decreases during amino acid starvation of human lymphoblasts. Boss GR, et al. J Biol Chem, 1985 May 25. PMID 2581946
  2. Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE). Miyazaki K, et al. J Med Genet, 1988 Dec. PMID 3236368, Free PMC Article
  3. Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase. Dallapiccola B, et al. Hum Genet, 1988 May. PMID 3366467
  4. Conversion of D-ribulose 5-phosphate to D-xylulose 5-phosphate: new insights from structural and biochemical studies on human RPE. Liang W, et al. FASEB J, 2011 Feb. PMID 20923965, Free PMC Article
  5. Alu-SINE exonization: en route to protein-coding function. Krull M, et al. Mol Biol Evol, 2005 Aug. PMID 15901843

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The binary complexes of RPE reported here will aid in the design of small molecules for modulating the activity of the enzyme and altering flux through the pentose phosphate pathway.
    Title: Conversion of D-ribulose 5-phosphate to D-xylulose 5-phosphate: new insights from structural and biochemical studies on human RPE.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC2636

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D-ribulose-phosphate 3-epimerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables D-ribulose-phosphate 3-epimerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carbohydrate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pentose-phosphate shunt IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pentose-phosphate shunt, non-oxidative branch IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
ribulose-phosphate 3-epimerase
NP_001265211.1
NP_001265212.1
NP_001265214.1
NP_001265215.1
NP_001265217.1
NP_001265218.1
NP_001305855.1
NP_001305856.1
NP_001305857.1
NP_001305858.1
NP_001305859.1
NP_001305860.1
NP_008847.1
NP_954699.1
XP_006712740.1
XP_047301337.1
XP_054199260.1
XP_054199261.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001278282.2 → NP_001265211.1  ribulose-phosphate 3-epimerase isoform 2

    See identical proteins and their annotated locations for NP_001265211.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon and contains two alternate exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter and has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
    Source sequence(s)
    AB075523, AI222711, BC005148, BC063135
    Consensus CDS
    CCDS42810.1
    UniProtKB/TrEMBL
    C9J6A7
    Related
    ENSP00000401838.1, ENST00000429921.5
    Conserved Domains (1) summary
    cd00429
    Location:1 → 164
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  2. NM_001278283.2 → NP_001265212.1  ribulose-phosphate 3-epimerase isoform 2

    See identical proteins and their annotated locations for NP_001265212.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains two alternate exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter and has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
    Source sequence(s)
    AB075523, AI222711, AK093658, BC005148, BC063135
    Consensus CDS
    CCDS42810.1
    UniProtKB/TrEMBL
    C9J6A7
    Related
    ENSP00000403808.2, ENST00000436630.6
    Conserved Domains (1) summary
    cd00429
    Location:1 → 164
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  3. NM_001278285.2 → NP_001265214.1  ribulose-phosphate 3-epimerase isoform 3

    See identical proteins and their annotated locations for NP_001265214.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AB075523, AI222711, AK303184, BC005148
    Consensus CDS
    CCDS63107.1
    UniProtKB/Swiss-Prot
    Q96AT9
    Related
    ENSP00000346501.7, ENST00000354506.10
    Conserved Domains (1) summary
    cd00429
    Location:6 → 185
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  4. NM_001278286.2 → NP_001265215.1  ribulose-phosphate 3-epimerase isoform 4

    See identical proteins and their annotated locations for NP_001265215.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains multiple differences in the coding region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 6, 7, 13, and 14 all encode the same isoform (4).
    Source sequence(s)
    AB075523, AI222711, AK308741, BC005148, DC403549
    Consensus CDS
    CCDS63108.1
    UniProtKB/TrEMBL
    C9J6A7
    Related
    ENSP00000389411.1, ENST00000411934.6
    Conserved Domains (1) summary
    cd00429
    Location:1 → 146
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  5. NM_001278288.2 → NP_001265217.1  ribulose-phosphate 3-epimerase isoform 4

    See identical proteins and their annotated locations for NP_001265217.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an exon, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 6, 7, 13, and 14 all encode the same isoform (4).
    Source sequence(s)
    AB075523, AI222711, BC005148, DA237285
    Consensus CDS
    CCDS63108.1
    UniProtKB/TrEMBL
    C9J6A7
    Related
    ENSP00000402061.1, ENST00000438204.6
    Conserved Domains (1) summary
    cd00429
    Location:1 → 146
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  6. NM_001278289.2 → NP_001265218.1  ribulose-phosphate 3-epimerase isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB075523, AI222711, BC005148, CN372165, CR992340, DC403549
    UniProtKB/Swiss-Prot
    Q96AT9
    Conserved Domains (1) summary
    cd00429
    Location:6 → 188
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  7. NM_001318926.2 → NP_001305855.1  ribulose-phosphate 3-epimerase isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) contains an alternate in-frame exon compared to variant 1. The resulting isoform (6) has the same N- and C-termini but is longer compared to isoform 1. This variant encodes the longest isoform (6).
    Source sequence(s)
    AB075523, AI222711, BC005148, BX403091, DC403549
    UniProtKB/TrEMBL
    B3KTW7
    Conserved Domains (1) summary
    cd00429
    Location:6 → 232
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  8. NM_001318927.2 → NP_001305856.1  ribulose-phosphate 3-epimerase isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) contains an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (7) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB075523, AI222711, BC005148, BX643719, DC403549
    Consensus CDS
    CCDS82567.1
    UniProtKB/TrEMBL
    C9IZU8
    Related
    ENSP00000400449.1, ENST00000452025.5
    Conserved Domains (1) summary
    cd00429
    Location:6 → 193
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  9. NM_001318928.2 → NP_001305857.1  ribulose-phosphate 3-epimerase isoform 8

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) contains an alternate in-frame exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (8) contains an alternate internal segment and lacks another alternate internal segment compared to isoform 1.
    Source sequence(s)
    AB075523, AI222711, BC005148, DA592494, DC403549
    UniProtKB/TrEMBL
    B3KTW7
    Conserved Domains (1) summary
    cd00429
    Location:6 → 197
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  10. NM_001318929.2 → NP_001305858.1  ribulose-phosphate 3-epimerase isoform 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) uses an alternate splice junction in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (9) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB075523, AC007038, AI222711, BC005148, BG546879, DC403549
    Consensus CDS
    CCDS82568.1
    UniProtKB/TrEMBL
    C9J9T0
    Related
    ENSP00000411186.1, ENST00000435437.2
    Conserved Domains (1) summary
    cd00429
    Location:6 → 188
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  11. NM_001318930.2 → NP_001305859.1  ribulose-phosphate 3-epimerase isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13) uses an alternate splice junction in the 5' end compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 6, 7, 13, and 14 all encode the same isoform (4).
    Source sequence(s)
    AB075523, AI222711, BC005148, DA251418, DC403549
    Consensus CDS
    CCDS63108.1
    UniProtKB/TrEMBL
    C9J6A7
    Related
    ENSP00000386194.2, ENST00000408981.6
    Conserved Domains (1) summary
    cd00429
    Location:1 → 146
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  12. NM_001318931.2 → NP_001305860.1  ribulose-phosphate 3-epimerase isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14) lacks an alternate exon and contains another alternate exon compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1. Variants 6, 7, 13, and 14 all encode the same isoform (4).
    Source sequence(s)
    AB075523, AI222711, BC005148, DA336224, DC403549
    Consensus CDS
    CCDS63108.1
    UniProtKB/TrEMBL
    C9J6A7
    Conserved Domains (1) summary
    cd00429
    Location:1 → 146
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  13. NM_006916.3 → NP_008847.1  ribulose-phosphate 3-epimerase isoform 2

    See identical proteins and their annotated locations for NP_008847.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon and contains an alternate exon, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter and has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform (2).
    Source sequence(s)
    AB075523, AI222711, AK056028, BC005148
    Consensus CDS
    CCDS42810.1
    UniProtKB/TrEMBL
    C9J6A7
    Related
    ENSP00000394455.1, ENST00000454822.5
    Conserved Domains (1) summary
    cd00429
    Location:1 → 164
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  14. NM_199229.3 → NP_954699.1  ribulose-phosphate 3-epimerase isoform 1

    See identical proteins and their annotated locations for NP_954699.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB075523, AI222711, BC005148, DC403549
    Consensus CDS
    CCDS2388.1
    UniProtKB/Swiss-Prot
    A8K4S0, B4E016, C9JPQ7, O43767, Q53TV9, Q8N215, Q96AT9, Q96N34, Q9BSB5
    Related
    ENSP00000352401.6, ENST00000359429.11
    Conserved Domains (1) summary
    cd00429
    Location:6 → 214
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    210002638..210022260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712677.5 → XP_006712740.1  ribulose-phosphate 3-epimerase isoform X1

    See identical proteins and their annotated locations for XP_006712740.1

    UniProtKB/TrEMBL
    C9J6A7
    Conserved Domains (1) summary
    cd00429
    Location:1 → 146
    RPE; Ribulose-5-phosphate 3-epimerase (RPE). This enzyme catalyses the interconversion of D-ribulose 5-phosphate (Ru5P) into D-xylulose 5-phosphate, as part of the Calvin cycle (reductive pentose phosphate pathway) in chloroplasts and in the oxidative pentose ...

  2. XM_047445381.1 → XP_047301337.1  ribulose-phosphate 3-epimerase isoform X1

RNA

  1. XR_001738880.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    210483346..210502965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343285.1 → XP_054199260.1  ribulose-phosphate 3-epimerase isoform X1

  2. XM_054343286.1 → XP_054199261.1  ribulose-phosphate 3-epimerase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96AT9.1 GenPept UniProtKB/Swiss-Prot:Q96AT9

Gene LinkOut

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