GULOP (gulonolactone (L-) oxidase, pseudogene) - Rat Genome Database

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Gene: GULOP (gulonolactone (L-) oxidase, pseudogene) Homo sapiens
Analyze
Symbol: GULOP
Name: gulonolactone (L-) oxidase, pseudogene
RGD ID: 1349088
HGNC Page HGNC:4695
Description: Predicted to enable L-gulonolactone oxidase activity and flavin adenine dinucleotide binding activity. Predicted to act upstream of or within L-ascorbic acid biosynthetic process.
Type: pseudo (Ensembl: unitary_pseudogene)
RefSeq Status: INFERRED
Previously known as: GULO; SCURVY
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38827,577,611 - 27,589,073 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl827,560,274 - 27,589,073 (+)EnsemblGRCh38hg38GRCh38
GRCh37827,435,128 - 27,446,590 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,491,045 - 27,502,507 (+)NCBINCBI36Build 36hg18NCBI36
Celera826,395,229 - 26,406,690 (+)NCBICelera
Cytogenetic Map8p21.1NCBI
HuRef825,980,173 - 25,991,634 (+)NCBIHuRef
CHM1_1827,637,009 - 27,648,461 (+)NCBICHM1_1
T2T-CHM13v2.0827,854,954 - 27,866,415 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3214183   PMID:8175804   PMID:14703305   PMID:20210993   PMID:23404229   PMID:25056061  


Genomics

Comparative Map Data
GULOP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38827,577,611 - 27,589,073 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl827,560,274 - 27,589,073 (+)EnsemblGRCh38hg38GRCh38
GRCh37827,435,128 - 27,446,590 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,491,045 - 27,502,507 (+)NCBINCBI36Build 36hg18NCBI36
Celera826,395,229 - 26,406,690 (+)NCBICelera
Cytogenetic Map8p21.1NCBI
HuRef825,980,173 - 25,991,634 (+)NCBIHuRef
CHM1_1827,637,009 - 27,648,461 (+)NCBICHM1_1
T2T-CHM13v2.0827,854,954 - 27,866,415 (+)NCBIT2T-CHM13v2.0
Gulo
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391466,224,235 - 66,246,703 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1466,224,235 - 66,246,656 (-)EnsemblGRCm39 Ensembl
GRCm381465,986,786 - 66,009,254 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1465,986,786 - 66,009,207 (-)EnsemblGRCm38mm10GRCm38
MGSCv371466,605,624 - 66,628,047 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361464,940,897 - 64,963,320 (-)NCBIMGSCv36mm8
Celera1451,257,847 - 51,259,334 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.36NCBI

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Variants

.
Variants in GULOP
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:355
Count of miRNA genes:328
Interacting mature miRNAs:345
Transcripts:ENST00000454030
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407079459GWAS728435_Hparental longevity QTL GWAS728435 (human)0.000009parental longevity82758454727584548Human
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
406905347GWAS554323_HS-6-hydroxywarfarin measurement QTL GWAS554323 (human)0.000007S-6-hydroxywarfarin measurement82758899427588995Human
407149152GWAS798128_Hschizophrenia QTL GWAS798128 (human)1e-08schizophrenia82758461027584611Human
407009895GWAS658871_Hparental longevity QTL GWAS658871 (human)6e-10parental longevity82758454727584548Human
406989543GWAS638519_Hcigarettes per day measurement QTL GWAS638519 (human)3e-09cigarettes per day measurement82758461027584611Human
407138668GWAS787644_Hcannabis dependence QTL GWAS787644 (human)7e-14cannabis dependence82757898327578984Human
407141290GWAS790266_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS790266 (human)5e-08Alzheimer disease, family history of Alzheimer’s disease82758400427584005Human
407115339GWAS764315_Hcannabis dependence, substance abuse QTL GWAS764315 (human)9e-12cannabis dependence, substance abuse82757898327578984Human
407067282GWAS716258_Hparental longevity QTL GWAS716258 (human)0.0000002parental longevity82758454727584548Human
407120848GWAS769824_Hcigarettes per day measurement QTL GWAS769824 (human)1e-11cigarettes per day measurement82758461027584611Human
407260787GWAS909763_Hschizophrenia QTL GWAS909763 (human)2e-12schizophrenia82758461027584611Human
406898902GWAS547878_Hsmoking initiation QTL GWAS547878 (human)4e-120smoking initiation82758461027584611Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
407067033GWAS716009_Hparental longevity QTL GWAS716009 (human)8e-09parental longevity82758454727584548Human
407138431GWAS787407_Hschizophrenia QTL GWAS787407 (human)2e-08schizophrenia82758461027584611Human
407323899GWAS972875_Hsmoking initiation QTL GWAS972875 (human)3e-135smoking initiation82757898327578984Human

Markers in Region
SHGC-145392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,443,659 - 27,443,977UniSTSGRCh37
Build 36827,499,576 - 27,499,894RGDNCBI36
Celera826,403,759 - 26,404,077RGD
Cytogenetic Map8p21.1UniSTS
HuRef825,988,703 - 25,989,021UniSTS
TNG Radiation Hybrid Map814067.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
679 1676 1657 1044 2807 1252 1362 1 506 548 391 1746 3661 3036 12 1625 662 1297 734 116

Sequence


Ensembl Acc Id: ENST00000454030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,560,274 - 27,589,073 (+)Ensembl

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4695 AgrOrtholog
COSMIC GULOP COSMIC
Ensembl Genes ENSG00000234770 Ensembl
GTEx ENSG00000234770 GTEx
HGNC ID HGNC:4695 ENTREZGENE
Human Proteome Map GULOP Human Proteome Map
NCBI Gene 2989 ENTREZGENE
PharmGKB PA29074 PharmGKB


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GULOP  gulonolactone (L-) oxidase, pseudogene  GULOP  gulonolactone (L-) oxidase pseudogene  Symbol and/or name change 5135510 APPROVED