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    GULOP gulonolactone (L-) oxidase, pseudogene [ Homo sapiens (human) ]

    Gene ID: 2989, updated on 10-Oct-2023

    Summary

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    Official Symbol
    GULOPprovided by HGNC
    Official Full Name
    gulonolactone (L-) oxidase, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:4695
    See related
    MIM:240400; AllianceGenome:HGNC:4695
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GULO; SCURVY
    Summary
    This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010]
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    Genomic context

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    Location:
    8p21.1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (27577611..27589073)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (27854954..27866415)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27435128..27446590)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27319910-27320838 Neighboring gene cholinergic receptor nicotinic alpha 2 subunit Neighboring gene CRISPRi-validated cis-regulatory element chr8.973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19049 Neighboring gene epoxide hydrolase 2 Neighboring gene MPRA-validated peak6969 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27412252-27412752 Neighboring gene Sharpr-MPRA regulatory region 1589 Neighboring gene uncharacterized LOC124901919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27450407-27450907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:27466546-27467252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:27467959-27468666 Neighboring gene clusterin Neighboring gene microRNA 6843

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Conserved or lost: molecular evolution of the key gene GULO in vertebrate vitamin C biosynthesis. Yang H. Biochem Genet, 2013 Jun. PMID 23404229
    2. The whole structure of the human nonfunctional L-gulono-gamma-lactone oxidase gene--the gene responsible for scurvy--and the evolution of repetitive sequences thereon. Inai Y, et al. J Nutr Sci Vitaminol (Tokyo), 2003 Oct. PMID 14703305
    3. Cloning and chromosomal mapping of the human nonfunctional gene for L-gulono-gamma-lactone oxidase, the enzyme for L-ascorbic acid biosynthesis missing in man. Nishikimi M, et al. J Biol Chem, 1994 May 6. PMID 8175804
    4. Occurrence in humans and guinea pigs of the gene related to their missing enzyme L-gulono-gamma-lactone oxidase. Nishikimi M, et al. Arch Biochem Biophys, 1988 Dec. PMID 3214183
    5. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. Zhang ZD, et al. Genome Biol, 2010. PMID 20210993, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    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.

    Genomic

    1. NG_001136.2 

      Range
      101..11563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      27577611..27589073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      27854954..27866415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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