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    PGLS 6-phosphogluconolactonase [ Homo sapiens (human) ]

    Gene ID: 25796, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PGLSprovided by HGNC
    Official Full Name
    6-phosphogluconolactonaseprovided by HGNC
    Primary source
    HGNC:HGNC:8903
    See related
    Ensembl:ENSG00000130313 MIM:604951; AllianceGenome:HGNC:8903
    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
    6PGL; HEL-S-304
    Summary
    Enables 6-phosphogluconolactonase activity. Involved in pentose-phosphate shunt. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 10.2), colon (RPKM 9.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See PGLS in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17511649..17521288)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17646286..17655924)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17622458..17632097)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17571641-17572141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14273 Neighboring gene nucleoredoxin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14274 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17581949-17582450 Neighboring gene Sharpr-MPRA regulatory region 2801 Neighboring gene solute carrier family 27 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17593839-17594340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14275 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17599959-17600122 Neighboring gene PGLS divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17609403-17609947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17610300-17611168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17611169-17612037 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:17618299-17619498 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17621304-17621961 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17621962-17622618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10350 Neighboring gene Sharpr-MPRA regulatory region 7913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17623276-17623931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17641583-17642201 Neighboring gene niban apoptosis regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10355 Neighboring gene collagen beta(1-O)galactosyltransferase 1 Neighboring gene Sharpr-MPRA regulatory region 8704

    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
    • 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. NMR spectroscopic analysis of the first two steps of the pentose-phosphate pathway elucidates the role of 6-phosphogluconolactonase. Miclet E, et al. J Biol Chem, 2001 Sep 14. PMID 11457850
    2. Cul3-KLHL20 Ubiquitin Ligase Governs the Turnover of ULK1 and VPS34 Complexes to Control Autophagy Termination. Liu CC, et al. Mol Cell, 2016 Jan 7. PMID 26687681
    3. 14-3-3-affinity purification of over 200 human phosphoproteins reveals new links to regulation of cellular metabolism, proliferation and trafficking. Pozuelo Rubio M, et al. Biochem J, 2004 Apr 15. PMID 14744259, Free PMC Article
    4. Mapping the mammalian ribosome quality control complex interactome using proximity labeling approaches. Zuzow N, et al. Mol Biol Cell, 2018 May 15. PMID 29540532, Free PMC Article
    5. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 6-phosphogluconolactonase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables 6-phosphogluconolactonase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 6-phosphogluconolactonase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pentose-phosphate shunt IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pentose-phosphate shunt TAS
    Traceable Author Statement
    more info
    		  
    involved_in pentose-phosphate shunt, 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
    6-phosphogluconolactonase
    Names
    epididymis secretory protein Li 304
    epididymis secretory sperm binding protein
    NP_036220.1

    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_012088.3 → NP_036220.1  6-phosphogluconolactonase

      See identical proteins and their annotated locations for NP_036220.1

      Status: VALIDATED

      Source sequence(s)
      AJ243972, BG764228
      Consensus CDS
      CCDS12361.1
      UniProtKB/Swiss-Prot
      O95336
      UniProtKB/TrEMBL
      A0A0K0K1K7, M0R261
      Related
      ENSP00000252603.1, ENST00000252603.7
      Conserved Domains (1) summary
      TIGR01198
      Location:11 → 248
      pgl; 6-phosphogluconolactonase

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17511649..17521288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17646286..17655924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95336.2 GenPept UniProtKB/Swiss-Prot:O95336

    Gene LinkOut

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

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