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

Gene ID: 2989, updated on 13-May-2022

Summary

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

See GULOP in Genome Data Viewer
Location:
8p21.1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (27577611..27589073)
110 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 CRISPRi-validated cis-regulatory element chr8.973 Neighboring gene epoxide hydrolase 2 Neighboring gene Sharpr-MPRA regulatory region 1589 Neighboring gene uncharacterized LOC124901919 Neighboring gene clusterin Neighboring gene microRNA 6843

Genomic regions, transcripts, and products

Phenotypes

EBI GWAS Catalog

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

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
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)