Human Gene UBIAD1 (uc001asg.3) Description and Page Index
Description: Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA. RefSeq Summary (NM_013319): 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]. Transcript (Including UTRs) Position: hg19 chr1:11,333,255-11,348,491 Size: 15,237 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chr1:11,333,589-11,346,188 Size: 12,600 Coding Exon Count: 2
ID:UBIA1_HUMAN DESCRIPTION: RecName: Full=UbiA prenyltransferase domain-containing protein 1; EC=2.5.1.-; AltName: Full=Transitional epithelial response protein 1; FUNCTION: Prenyltransferase that mediates the formation of menaquinone-4 (MK-4), a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas. Mediates the conversion of phylloquinone (PK) into menaquinone-4 (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. PATHWAY: Cofactor biosynthesis; menaquinone biosynthesis. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm. Nucleus. Mitochondrion. TISSUE SPECIFICITY: Ubiquitously expressed. DISEASE: Defects in UBIAD1 are the cause of crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]. SCCD is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. MISCELLANEOUS: Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level). SIMILARITY: Belongs to the UbiA prenyltransferase family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): UBIAD1 CDC HuGE Published Literature: UBIAD1 Positive Disease Associations: Heart Failure Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01040 - UbiA prenyltransferase family
ModBase Predicted Comparative 3D Structure on Q9Y5Z9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006744 ubiquinone biosynthetic process GO:0009234 menaquinone biosynthetic process GO:0032194 ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate GO:0042371 vitamin K biosynthetic process GO:0042373 vitamin K metabolic process GO:0098869 cellular oxidant detoxification