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 synthe... See more...

Aliases for GULOP Gene

Aliases for GULOP Gene

  • Gulonolactone (L-) Oxidase, Pseudogene 2 3 5
  • GULO 2 3
  • SCURVY 3
  • Scurvy 2
  • GULOP 5

External Ids for GULOP Gene

Previous GeneCards Identifiers for GULOP Gene

  • GC08U990039
  • GC08P027255
  • GC08P027457
  • GC08P027491
  • GC08P027418

Summaries for GULOP Gene

Entrez Gene Summary for GULOP Gene

  • 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]

GeneCards Summary for GULOP Gene

GULOP (Gulonolactone (L-) Oxidase, Pseudogene) is a Pseudogene. Diseases associated with GULOP include Hypoascorbemia.

Gene Wiki entry for GULOP Gene

Additional gene information for GULOP Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GULOP Gene

Genomics for GULOP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GULOP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J027559 Enhancer 0.2 Ensembl 600.7 -1.0 -974 0.6 GULOP lnc-EPHX2-1 EPHX2 CHRNA2 piR-46002-547 CLU
GH08J027610 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.9 +53.7 53732 8.2 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 REST TFE3 LEF1 CLU FZD3 SCARA3 GULOP MIR6843 lnc-CLU-2 EPHX2
GH08J027602 Enhancer 1.3 Ensembl ENCODE dbSUPER 7 +43.1 43113 2.5 GATAD2A CTCF TEAD4 PRDM10 REST ZNF629 TFE3 RFX1 SOX13 NFKBIZ RF00017-6910 ENSG00000253875 EPHX2 CHRNA2 CCDC25 ESCO2 RNU6-1276P GULOP MIR6843 CLU
GH08J027592 Promoter/Enhancer 1.4 ENCODE CraniofacialAtlas dbSUPER 5.6 +32.0 32025 0.4 HNRNPL GATAD2A CTCF ZNF629 TFE3 IKZF1 KDM1A ZNF692 RCOR2 JUND lnc-SCARA3-2 GULOP RF00017-6910 CLU EPHX2
GH08J027583 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.7 +24.1 24094 2.6 GATAD2A TEAD4 ZNF629 REST KDM1A ZNF692 RCOR2 PRDM1 ZIC2 PKNOX1 CHRNA2 GULOP piR-48759-295 lnc-EPHX2-1 CLU EPHX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GULOP on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for GULOP Gene

Genomic Locations for GULOP Gene
chr8:27,560,274-27,589,073
(GRCh38/hg38)
Size:
28,800 bases
Orientation:
Plus strand
chr8:27,417,791-27,446,590
(GRCh37/hg19)
Size:
28,800 bases
Orientation:
Plus strand

Genomic View for GULOP Gene

Genes around GULOP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GULOP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GULOP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GULOP Gene

Proteins for GULOP Gene

No data available for DME Specific Peptides for GULOP Gene

Domains & Families for GULOP Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GULOP Gene

Function for GULOP Gene

Molecular function for GULOP Gene

GENATLAS Biochemistry:
gulono-gamma oxidase,non functional

Phenotypes From GWAS Catalog for GULOP Gene

Phenotypes for GULOP Gene

genes like me logo Genes that share phenotypes with GULOP: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GULOP Gene

Localization for GULOP Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for GULOP Gene

Pathways & Interactions for GULOP Gene

PathCards logo

SuperPathways for GULOP Gene

No Data Available

Gene Ontology (GO) - Biological Process for GULOP Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for GULOP Gene

Drugs & Compounds for GULOP Gene

No Compound Related Data Available

Transcripts for GULOP Gene

mRNA/cDNA for GULOP Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for GULOP Gene

No ASD Table

Relevant External Links for GULOP Gene

GeneLoc Exon Structure for
GULOP

Expression for GULOP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GULOP Gene

mRNA differential expression in normal tissues according to GTEx for GULOP Gene

This gene is overexpressed in Pancreas (x5.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GULOP

genes like me logo Genes that share expression patterns with GULOP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GULOP Gene

Orthologs for GULOP Gene

Evolution for GULOP Gene

ENSEMBL:
Gene Tree for GULOP (if available)
TreeFam:
Gene Tree for GULOP (if available)

No data available for Orthologs for GULOP Gene

Paralogs for GULOP Gene

No data available for Paralogs for GULOP Gene

Variants for GULOP Gene

Additional Variant Information for GULOP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GULOP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for GULOP Gene

Disorders for GULOP Gene

MalaCards: The human disease database

(1) MalaCards diseases for GULOP Gene - From: OMIM and GeneCards

Disorder Aliases PubMed IDs
hypoascorbemia
  • scurvy
- elite association - COSMIC cancer census association via MalaCards
Search GULOP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GULOP

Genetic Association Database
(GAD)
genes like me logo Genes that share disorders with GULOP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GULOP Gene

Publications for GULOP Gene

  1. 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. (PMID: 8175804) Nishikimi M … Yagi K (The Journal of biological chemistry 1994) 2 3
  2. Occurrence in humans and guinea pigs of the gene related to their missing enzyme L-gulono-gamma-lactone oxidase. (PMID: 3214183) Nishikimi M … Yagi K (Archives of biochemistry and biophysics 1988) 2 3
  3. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3
  4. Conserved or lost: molecular evolution of the key gene GULO in vertebrate vitamin C biosynthesis. (PMID: 23404229) Yang H (Biochemical genetics 2013) 3
  5. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. (PMID: 20210993) Zhang ZD … Gerstein M (Genome biology 2010) 3

Products for GULOP Gene

Sources for GULOP Gene