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Aliases for UBIAD1 Gene

Aliases for UBIAD1 Gene

  • UbiA Prenyltransferase Domain Containing 1 2 3 5
  • Transitional Epithelial Response Protein 1 3 4
  • Transitional Epithelia Response Protein 2 3
  • TERE1 3 4
  • UbiA Prenyltransferase Domain-Containing Protein 1 3
  • Schnyder Crystalline Corneal Dystrophy 2
  • EC 2.5.1.- 4
  • SCCD 3

External Ids for UBIAD1 Gene

Previous HGNC Symbols for UBIAD1 Gene

  • SCCD

Previous GeneCards Identifiers for UBIAD1 Gene

  • GC01P011268
  • GC01P011255
  • GC01P011334
  • GC01P010484

Summaries for UBIAD1 Gene

Entrez Gene Summary for UBIAD1 Gene

  • This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]

GeneCards Summary for UBIAD1 Gene

UBIAD1 (UbiA Prenyltransferase Domain Containing 1) is a Protein Coding gene. Diseases associated with UBIAD1 include Corneal Dystrophy, Schnyder Type and Corneal Dystrophy. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism of fat-soluble vitamins. GO annotations related to this gene include antioxidant activity and prenyltransferase activity.

UniProtKB/Swiss-Prot for UBIAD1 Gene

  • Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosyntetic enzyme: coenzyme Q10, also named ubiquinone, plays a important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.

Gene Wiki entry for UBIAD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBIAD1 Gene

Genomics for UBIAD1 Gene

Regulatory Elements for UBIAD1 Gene

Enhancers for UBIAD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G011907 1.8 FANTOM5 ENCODE dbSUPER 26.5 +635.6 635600 3.1 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 UBIAD1 ENSG00000226849 MFN2 EXOSC10 SNORA59A NPPA-AS1 PLOD1 KIAA2013 VPS13D MTHFR
GH01G012156 2.1 FANTOM5 Ensembl ENCODE dbSUPER 17.6 +887.4 887427 7.3 HDGF PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 FEZF1 ZBTB7B YY1 ZNF766 TNFRSF1B UBIAD1 MTHFR TNFRSF8 CLCN6 AGTRAP FBXO6 MFN2 MIR7846 RPL23AP89
GH01G012166 1.8 FANTOM5 ENCODE dbSUPER 17.6 +901.2 901218 15.6 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A YY1 ZNF766 MTHFR TNFRSF1B UBIAD1 TNFRSF8 CLCN6 VPS13D AGTRAP MIIP MFN2 MIR4632
GH01G010413 1.6 Ensembl ENCODE dbSUPER 17.6 -857.8 -857763 3.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 PGD UBIAD1 CORT PEX14 DFFA CENPS-CORT CENPS
GH01G010398 1.4 ENCODE dbSUPER 17.6 -873.2 -873241 3.6 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 PGD EXOSC10 UBIAD1 ENSG00000226849 CENPS CENPS-CORT
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBIAD1 on UCSC Golden Path with GeneCards custom track

Promoters for UBIAD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001394 402 2001 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143

Genomic Location for UBIAD1 Gene

Chromosome:
1
Start:
11,273,198 bp from pter
End:
11,296,595 bp from pter
Size:
23,398 bases
Orientation:
Plus strand

Genomic View for UBIAD1 Gene

Genes around UBIAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBIAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBIAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBIAD1 Gene

Proteins for UBIAD1 Gene

  • Protein details for UBIAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Z9-UBIA1_HUMAN
    Recommended name:
    UbiA prenyltransferase domain-containing protein 1
    Protein Accession:
    Q9Y5Z9
    Secondary Accessions:
    • B3KQG3
    • Q53GX3
    • Q5THD4

    Protein attributes for UBIAD1 Gene

    Size:
    338 amino acids
    Molecular mass:
    36831 Da
    Quaternary structure:
    • Interacts with HMGCR and SOAT1.
    Miscellaneous:
    • Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level) (PubMed:11314041, PubMed:12497587).

    Alternative splice isoforms for UBIAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBIAD1 Gene

Post-translational modifications for UBIAD1 Gene

  • Ubiquitination at isoforms=210
  • Modification sites at PhosphoSitePlus

Other Protein References for UBIAD1 Gene

No data available for DME Specific Peptides for UBIAD1 Gene

Domains & Families for UBIAD1 Gene

Protein Domains for UBIAD1 Gene

Suggested Antigen Peptide Sequences for UBIAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5Z9

UniProtKB/Swiss-Prot:

UBIA1_HUMAN :
  • Belongs to the UbiA prenyltransferase family.
Family:
  • Belongs to the UbiA prenyltransferase family.
genes like me logo Genes that share domains with UBIAD1: view

No data available for Gene Families for UBIAD1 Gene

Function for UBIAD1 Gene

Molecular function for UBIAD1 Gene

UniProtKB/Swiss-Prot Function:
Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosyntetic enzyme: coenzyme Q10, also named ubiquinone, plays a important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.

Enzyme Numbers (IUBMB) for UBIAD1 Gene

Gene Ontology (GO) - Molecular Function for UBIAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004659 prenyltransferase activity IDA,EXP 20953171
GO:0005515 protein binding IPI 23169578
GO:0016209 antioxidant activity IMP 23374346
GO:0016740 transferase activity IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
genes like me logo Genes that share ontologies with UBIAD1: view

Phenotypes for UBIAD1 Gene

genes like me logo Genes that share phenotypes with UBIAD1: view

Human Phenotype Ontology for UBIAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UBIAD1 Gene

MGI Knock Outs for UBIAD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for UBIAD1

CRISPR Products

miRNA for UBIAD1 Gene

miRTarBase miRNAs that target UBIAD1

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for UBIAD1 Gene

Localization for UBIAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBIAD1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBIAD1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for UBIAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11314041
GO:0005737 cytoplasm IDA,IEA 11314041
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 20953171
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with UBIAD1: view

Pathways & Interactions for UBIAD1 Gene

genes like me logo Genes that share pathways with UBIAD1: view

Pathways by source for UBIAD1 Gene

UniProtKB/Swiss-Prot Q9Y5Z9-UBIA1_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.
  • Pathway: Quinol/quinone metabolism; menaquinone biosynthesis.

Gene Ontology (GO) - Biological Process for UBIAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process IMP 23374346
GO:0009234 menaquinone biosynthetic process IMP 23169578
GO:0032194 ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate IBA --
GO:0042371 vitamin K biosynthetic process IMP 23169578
GO:0042373 vitamin K metabolic process TAS --
genes like me logo Genes that share ontologies with UBIAD1: view

No data available for SIGNOR curated interactions for UBIAD1 Gene

Drugs & Compounds for UBIAD1 Gene

No Compound Related Data Available

Transcripts for UBIAD1 Gene

Unigene Clusters for UBIAD1 Gene

UbiA prenyltransferase domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBIAD1 Gene

No ASD Table

Relevant External Links for UBIAD1 Gene

GeneLoc Exon Structure for
UBIAD1
ECgene alternative splicing isoforms for
UBIAD1

Expression for UBIAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBIAD1 Gene

Protein differential expression in normal tissues from HIPED for UBIAD1 Gene

This gene is overexpressed in Testis (18.6), Pancreas (15.6), Peripheral blood mononuclear cells (12.9), and CD4 Tcells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBIAD1 Gene



Protein tissue co-expression partners for UBIAD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBIAD1 Gene:

UBIAD1

SOURCE GeneReport for Unigene cluster for UBIAD1 Gene:

Hs.522933

mRNA Expression by UniProt/SwissProt for UBIAD1 Gene:

Q9Y5Z9-UBIA1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for UBIAD1 Gene

  • Liver(4.2)
  • Lung(4.1)
  • Spleen(4.1)
  • Eye(3.2)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UBIAD1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Organs:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with UBIAD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for UBIAD1 Gene

Orthologs for UBIAD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UBIAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBIAD1 34 35
  • 99.31 (n)
mouse
(Mus musculus)
Mammalia Ubiad1 34 16 35
  • 89.29 (n)
rat
(Rattus norvegicus)
Mammalia Ubiad1 34
  • 89.15 (n)
cow
(Bos Taurus)
Mammalia UBIAD1 34 35
  • 88.96 (n)
dog
(Canis familiaris)
Mammalia UBIAD1 34 35
  • 85.36 (n)
oppossum
(Monodelphis domestica)
Mammalia UBIAD1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBIAD1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBIAD1 34 35
  • 74.77 (n)
lizard
(Anolis carolinensis)
Reptilia UBIAD1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubiad1 34
  • 68.97 (n)
Str.3124 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8923 34
zebrafish
(Danio rerio)
Actinopterygii ubiad1 34 35
  • 72.34 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3903 34
fruit fly
(Drosophila melanogaster)
Insecta heix 34 35
  • 58.21 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007897 34
  • 57.18 (n)
Species where no ortholog for UBIAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UBIAD1 Gene

ENSEMBL:
Gene Tree for UBIAD1 (if available)
TreeFam:
Gene Tree for UBIAD1 (if available)

Paralogs for UBIAD1 Gene

No data available for Paralogs for UBIAD1 Gene

Variants for UBIAD1 Gene

Sequence variations from dbSNP and Humsavar for UBIAD1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs118203945 Pathogenic, Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] 11,273,836(+) GGTCA(A/G)CACTT nc-transcript-variant, reference, missense
rs118203946 Pathogenic, Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] 11,274,060(+) CAGGA(C/G)GTAAG nc-transcript-variant, reference, missense
rs118203947 Pathogenic, Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] 11,273,886(+) ATGAC(A/G)GGACA nc-transcript-variant, reference, missense
rs118203948 Pathogenic, Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] 11,274,055(+) CTACA(C/T)AGGAG nc-transcript-variant, reference, missense
rs118203949 Pathogenic, Corneal dystrophy, Schnyder type (SCCD) [MIM:121800] 11,285,809(+) TTCCA(A/G)CAACA intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for UBIAD1 Gene

Variant ID Type Subtype PubMed ID
nsv1144351 CNV deletion 24896259
nsv545407 CNV gain 21841781

Variation tolerance for UBIAD1 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBIAD1 Gene

Human Gene Mutation Database (HGMD)
UBIAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBIAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBIAD1 Gene

Disorders for UBIAD1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for UBIAD1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
corneal dystrophy, schnyder type
  • schnyder corneal dystrophy
corneal dystrophy
transitional cell carcinoma
  • transitional carcinoma
stromal dystrophy
macular corneal dystrophy
  • macular dystrophy, corneal
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UBIA1_HUMAN
  • Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]: A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared. {ECO:0000269 PubMed:17668063, ECO:0000269 PubMed:17962451, ECO:0000269 PubMed:18176953, ECO:0000269 PubMed:19429578, ECO:0000269 PubMed:19649163, ECO:0000269 PubMed:20489584, ECO:0000269 PubMed:20505825, ECO:0000269 PubMed:23169578, ECO:0000269 PubMed:23374346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UBIAD1

Genetic Association Database (GAD)
UBIAD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBIAD1
genes like me logo Genes that share disorders with UBIAD1: view

No data available for Genatlas for UBIAD1 Gene

Publications for UBIAD1 Gene

  1. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. (PMID: 17668063) Orr A. … Samuels M. (PLoS ONE 2007) 2 3 4 22 64
  2. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. (PMID: 20505825) Nickerson M.L. … Weiss J.S. (PLoS ONE 2010) 3 4 22 64
  3. Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme. (PMID: 20953171) Nakagawa K. … Okano T. (Nature 2010) 2 3 4 64
  4. A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. (PMID: 19649163) Jing Y. … Wang L. (Mol. Vis. 2009) 3 4 22 64
  5. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. (PMID: 17962451) Weiss J.S. … Nickerson M.L. (Invest. Ophthalmol. Vis. Sci. 2007) 2 3 4 64

Products for UBIAD1 Gene

Sources for UBIAD1 Gene

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