Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UBIAD1 Gene

Aliases for UBIAD1 Gene

  • UbiA Prenyltransferase Domain Containing 1 2 3
  • TERE1 3 4 6
  • Transitional Epithelial Response Protein 1 3 4
  • Transitional Epithelia Response Protein 2 3
  • SCCD 3 6
  • UbiA Prenyltransferase Domain-Containing Protein 1 3
  • Schnyder Crystalline Corneal Dystrophy 2
  • EC 2.5.1.- 4

External Ids for UBIAD1 Gene

Previous Symbols for UBIAD1 Gene

  • SCCD

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 landau-kleffner syndrome. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBIAD1 Gene

Genomics for UBIAD1 Gene

Genomic Location for UBIAD1 Gene

Start:
11,273,164 bp from pter
End:
11,296,314 bp from pter
Size:
23,151 bases
Orientation:
Plus strand

Genomic View for UBIAD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UBIAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBIAD1 Gene

Regulatory Elements 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

Proteomics data for UBIAD1 Gene at MOPED

Post-translational modifications for UBIAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys10

Other Protein References for UBIAD1 Gene

No data available for DME Specific Peptides for UBIAD1 Gene

Domains for UBIAD1 Gene

Protein Domains for UBIAD1 Gene

UniProtKB/Swiss-Prot:

UBIA1_HUMAN
Family:
  • Belongs to the UbiA prenyltransferase family.:
    • Q9Y5Z9
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 20953171
GO:0005515 protein binding IPI 23169578
GO:0016209 antioxidant activity IMP 23374346
genes like me logo Genes that share ontologies with UBIAD1: view

miRNA for UBIAD1 Gene

miRTarBase miRNAs that target UBIAD1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for UBIAD1 Gene COMPARTMENTS Subcellular localization image for UBIAD1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
mitochondrion 5
nucleus 5
plasma membrane 3
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UBIAD1 Gene

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

Pathways for UBIAD1 Gene

SuperPathways for UBIAD1 Gene

No Data Available

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:0008152 metabolic process --
GO:0009234 menaquinone biosynthetic process IMP 23169578
GO:0042371 vitamin K biosynthetic process IMP 23169578
genes like me logo Genes that share ontologies with UBIAD1: view

No data available for Pathways by source for UBIAD1 Gene

Transcripts for UBIAD1 Gene

Unigene Clusters for UBIAD1 Gene

UbiA prenyltransferase domain containing 1:
Representative Sequences:

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 for UBIAD1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UBIAD1 Gene

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.
genes like me logo Genes that share expressions with UBIAD1: view

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 36
  • 99.31 (n)
  • 99.7 (a)
UBIAD1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBIAD1 36
  • 88.96 (n)
  • 91.27 (a)
UBIAD1 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBIAD1 36
  • 85.36 (n)
  • 89.02 (a)
UBIAD1 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubiad1 36
  • 89.29 (n)
  • 92.56 (a)
Ubiad1 16
Ubiad1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBIAD1 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBIAD1 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ubiad1 36
  • 89.15 (n)
  • 91.72 (a)
chicken
(Gallus gallus)
Aves UBIAD1 36
  • 74.77 (n)
  • 81.85 (a)
UBIAD1 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBIAD1 37
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8923 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3124 36
ubiad1 36
  • 68.97 (n)
  • 81.82 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3903 36
zebrafish
(Danio rerio)
Actinopterygii ubiad1 36
  • 72.34 (n)
  • 78.91 (a)
ubiad1 37
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007897 36
  • 57.18 (n)
  • 56.6 (a)
fruit fly
(Drosophila melanogaster)
Insecta heix 36
  • 58.21 (n)
  • 59.64 (a)
heix 37
  • 49 (a)
OneToOne
Species with no ortholog for UBIAD1:
  • 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

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

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 MAF
rs727974 -- 11,284,202(+) GTGAG(A/G)GGAGG intron-variant
rs730499 -- 11,292,912(+) ACCTG(A/C/T)CCTTC intron-variant
rs2744814 -- 11,294,836(+) GTCCC(C/T)TCATC intron-variant
rs2744845 -- 11,274,750(+) GACTA(C/T)AGGCA intron-variant
rs2788540 -- 11,294,862(-) AGAGA(C/T)GAGAC intron-variant

Relevant External Links for UBIAD1 Gene

HapMap Linkage Disequilibrium report
UBIAD1
Human Gene Mutation Database (HGMD)
UBIAD1

No data available for Structural Variations from Database of Genomic Variants (DGV) for UBIAD1 Gene

Disorders for UBIAD1 Gene

(1) OMIM Diseases for UBIAD1 Gene (611632)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for UBIAD1 Gene

Relevant External Links for UBIAD1

Genetic Association Database (GAD)
UBIAD1
genes like me logo Genes that share disorders with UBIAD1: view

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 23
  2. 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 23
  3. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. (PMID: 20505825) Nickerson M.L. … Weiss J.S. (PLoS ONE 2010) 3 4 23
  4. Isolation and characterization of the TERE1 gene, a gene down- regulated in transitional cell carcinoma of the bladder. (PMID: 11314041) McGarvey T.W. … Malkowicz S.B. (Oncogene 2001) 2 3 4
  5. TERE1, a novel gene affecting growth regulation in prostate carcinoma. (PMID: 12497587) McGarvey T.W. … Malkowicz S.B. (Prostate 2003) 2 3 4

Products for UBIAD1 Gene

Sources for UBIAD1 Gene

Back to Top

Content