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

    Gene ID: 6120, updated on 28-Oct-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, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.9), adrenal (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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