Human Gene UBIAD1 (ENST00000376810.6) from GENCODE V38
Description: Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), transcript variant 1, mRNA. (from RefSeq NM_013319) 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]. Gencode Transcript: ENST00000376810.6 Gencode Gene: ENSG00000120942.14 Transcript (Including UTRs) Position: hg38 chr1:11,273,198-11,288,434 Size: 15,237 Total Exon Count: 2 Strand: + Coding Region Position: hg38 chr1:11,273,532-11,286,131 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.
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