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Ask your administrator if you think this is wrong. ======= UBIAD1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: UBIAD1 * **<color #00a2e8>Official Name</color>**: UbiA prenyltransferase domain containing 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=29914|29914]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y5Z9|Q9Y5Z9]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=UBIAD1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20UBIAD1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611632|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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 biosynthetic 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. {ECO:0000269|PubMed:20953171, ECO:0000269|PubMed:23374346}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |UbiA| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |menaquinone biosynthetic process| |ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate| |vitamin K biosynthetic process| |prenyltransferase activity| |menaquinone metabolic process| |vitamin K metabolic process| |fat-soluble vitamin biosynthetic process| |ubiquinone biosynthetic process| |vitamin biosynthetic process| |quinone biosynthetic process| |ubiquinone metabolic process| |antioxidant activity| |ketone biosynthetic process| |quinone metabolic process| |fat-soluble vitamin metabolic process| |oxidoreduction coenzyme metabolic process| |integral component of Golgi membrane| |cellular ketone metabolic process| |cellular oxidant detoxification| |cellular detoxification| |mitochondrial membrane| |vitamin metabolic process| |detoxification| |coenzyme biosynthetic process| |cofactor biosynthetic process| |cellular response to toxic substance| |coenzyme metabolic process| |cofactor metabolic process| |response to toxic substance| |small molecule biosynthetic process| |endoplasmic reticulum membrane| |endoplasmic reticulum| |small molecule metabolic process| |membrane| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|-2.49| |[[:results:exp442|Ibrutinib 10μM R08 exp442]]|-2.27| |[[:results:exp274|Citral 50μM R06 exp274]]|-2.26| |[[:results:exp480|ETC-159 50μM R08 exp480]]|-1.96| |[[:results:exp77|Prochlorperazine 5.2μM R02 exp77]]|-1.74| |[[:results:exp453|B02 10μM R08 exp453]]|1.72| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 88/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|2/28| |blood|0/28| |bone|3/26| |breast|4/33| |central nervous system|9/56| |cervix|1/4| |colorectal|1/17| |esophagus|1/13| |fibroblast|0/1| |gastric|1/16| |kidney|4/21| |liver|1/20| |lung|16/75| |lymphocyte|1/16| |ovary|3/26| |pancreas|3/24| |peripheral nervous system|2/16| |plasma cell|0/15| |prostate|0/1| |skin|6/24| |soft tissue|2/9| |thyroid|1/2| |upper aerodigestive|3/22| |urinary tract|1/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 9686 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.45 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='UBIAD1 Expression in NALM6 Cells: 5.45'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:37by 127.0.0.1