Details for: UBIAD1

Gene ID: 29914

Symbol: UBIAD1

Ensembl ID: ENSG00000120942

Description: UbiA prenyltransferase domain containing 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 82.3555
    Cell Significance Index: -12.8100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 48.8875
    Cell Significance Index: -12.4000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 32.4386
    Cell Significance Index: -15.3200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 31.7533
    Cell Significance Index: -12.9000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 28.7528
    Cell Significance Index: -14.7900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 13.5115
    Cell Significance Index: -12.9000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.6306
    Cell Significance Index: -14.3400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.9200
    Cell Significance Index: -13.1800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.7303
    Cell Significance Index: -14.7200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.8944
    Cell Significance Index: -8.8900
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 2.4269
    Cell Significance Index: 3.1400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.1724
    Cell Significance Index: 18.8100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1292
    Cell Significance Index: 111.7100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8223
    Cell Significance Index: 742.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7612
    Cell Significance Index: 82.8000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7066
    Cell Significance Index: 9.6400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.6982
    Cell Significance Index: 19.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6155
    Cell Significance Index: 100.1000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4117
    Cell Significance Index: 47.9800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3740
    Cell Significance Index: 25.8700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3433
    Cell Significance Index: 21.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2811
    Cell Significance Index: 194.4000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2758
    Cell Significance Index: 7.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2668
    Cell Significance Index: 52.9500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2520
    Cell Significance Index: 30.9900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2481
    Cell Significance Index: 17.5500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2262
    Cell Significance Index: 16.8600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2245
    Cell Significance Index: 11.6600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2233
    Cell Significance Index: 44.7900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2145
    Cell Significance Index: 25.3000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2076
    Cell Significance Index: 28.5100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2050
    Cell Significance Index: 36.9600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1961
    Cell Significance Index: 5.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1827
    Cell Significance Index: 23.6000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1815
    Cell Significance Index: 65.1200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1578
    Cell Significance Index: 69.7800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.1300
    Cell Significance Index: 3.3200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1293
    Cell Significance Index: 6.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1142
    Cell Significance Index: 19.5000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1088
    Cell Significance Index: 59.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1067
    Cell Significance Index: 20.3000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1022
    Cell Significance Index: 1.4400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0984
    Cell Significance Index: 4.4600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0800
    Cell Significance Index: 10.2500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0775
    Cell Significance Index: 3.4300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0662
    Cell Significance Index: 4.2700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0596
    Cell Significance Index: 6.8300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0346
    Cell Significance Index: 0.8700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0233
    Cell Significance Index: 1.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0232
    Cell Significance Index: 0.8800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0215
    Cell Significance Index: 0.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0011
    Cell Significance Index: -2.1500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0031
    Cell Significance Index: -2.2800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0046
    Cell Significance Index: -2.8800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0050
    Cell Significance Index: -3.7000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0057
    Cell Significance Index: -4.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0067
    Cell Significance Index: -0.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0072
    Cell Significance Index: -13.3700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0083
    Cell Significance Index: -12.8400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0095
    Cell Significance Index: -12.9600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0133
    Cell Significance Index: -8.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0163
    Cell Significance Index: -9.2000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0165
    Cell Significance Index: -0.4600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0200
    Cell Significance Index: -9.0800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0206
    Cell Significance Index: -0.6600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0221
    Cell Significance Index: -2.2600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0221
    Cell Significance Index: -1.2400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0296
    Cell Significance Index: -0.6200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0324
    Cell Significance Index: -6.8200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0351
    Cell Significance Index: -10.0900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0360
    Cell Significance Index: -0.9600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0405
    Cell Significance Index: -2.4900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0578
    Cell Significance Index: -1.2300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0679
    Cell Significance Index: -7.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0715
    Cell Significance Index: -10.4000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0768
    Cell Significance Index: -4.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0817
    Cell Significance Index: -2.8700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0825
    Cell Significance Index: -1.3800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0922
    Cell Significance Index: -1.4000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0986
    Cell Significance Index: -6.6300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1036
    Cell Significance Index: -2.7700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1132
    Cell Significance Index: -1.3500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1136
    Cell Significance Index: -2.9200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1220
    Cell Significance Index: -3.2100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1288
    Cell Significance Index: -1.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1348
    Cell Significance Index: -14.0400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1397
    Cell Significance Index: -3.0600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1436
    Cell Significance Index: -4.9900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.1611
    Cell Significance Index: -2.8500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1662
    Cell Significance Index: -4.7700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1678
    Cell Significance Index: -13.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1920
    Cell Significance Index: -3.2900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2216
    Cell Significance Index: -5.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2367
    Cell Significance Index: -12.3300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2450
    Cell Significance Index: -15.0200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2497
    Cell Significance Index: -2.5900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2893
    Cell Significance Index: -1.9600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3034
    Cell Significance Index: -4.3500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3079
    Cell Significance Index: -9.0700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3155
    Cell Significance Index: -2.6500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** UBIAD1 is a member of the UbiA prenyltransferase domain-containing protein family, characterized by the presence of a prenyltransferase domain. This domain is crucial for the protein's ability to catalyze the transfer of prenyl groups to proteins, which is essential for their proper functioning and localization. UBIAD1 is primarily expressed in cells of the immune system, including cardiac endothelial cells, cardiac muscle myoblasts, and intestinal epithelial cells. **Pathways and Functions:** UBIAD1 plays a critical role in regulating various cellular pathways, including: 1. **Menaquinone biosynthesis:** UBIAD1 is involved in the biosynthesis of menaquinone, a fat-soluble vitamin essential for maintaining cellular homeostasis. Menaquinone is involved in the regulation of cellular redox balance, antioxidant defenses, and energy metabolism. 2. **Antioxidant activity:** UBIAD1 has been shown to have antioxidant properties, which help protect cells from oxidative stress and damage. 3. **Cellular oxidant detoxification:** UBIAD1 is involved in the regulation of cellular oxidant detoxification pathways, which help to remove reactive oxygen species (ROS) from cells. 4. **Protein binding:** UBIAD1 interacts with various proteins, including those involved in signaling pathways, which helps to regulate cellular responses to environmental stimuli. **Clinical Significance:** UBIAD1 has been implicated in various immune-related disorders, including: 1. **Autoimmune diseases:** UBIAD1 deficiency has been linked to autoimmune diseases, such as rheumatoid arthritis and lupus, which are characterized by excessive immune activation and tissue damage. 2. **Inflammatory disorders:** UBIAD1 has been shown to play a role in regulating inflammation, which is a hallmark of various inflammatory disorders, including atherosclerosis and inflammatory bowel disease. 3. **Metabolic disorders:** UBIAD1 is involved in regulating energy metabolism and fat storage, which makes it a potential target for the treatment of metabolic disorders, such as obesity and type 2 diabetes. In conclusion, UBIAD1 is a critical gene involved in regulating immune function, metabolism, and cellular signaling pathways. Its dysregulation has been implicated in various immune-related disorders, highlighting the need for further research into the mechanisms underlying UBIAD1 function and its potential therapeutic applications.

Genular Protein ID: 769478474

Symbol: UBIA1_HUMAN

Name: UbiA prenyltransferase domain-containing protein 1

UniProtKB Accession Codes:

Q9Y5Z9 B3KQG3 Q53GX3 Q5THD4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11314041

Title: Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder.

PubMed ID: 11314041

DOI: 10.1038/sj.onc.1204143

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12497587

Title: TERE1, a novel gene affecting growth regulation in prostate carcinoma.

PubMed ID: 12497587

DOI: 10.1002/pros.10174

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 20953171

Title: Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme.

PubMed ID: 20953171

DOI: 10.1038/nature09464

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 23374346

Title: Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis.

PubMed ID: 23374346

DOI: 10.1016/j.cell.2013.01.013

PubMed ID: 17962451

Title: Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

PubMed ID: 17962451

DOI: 10.1167/iovs.07-0845

PubMed ID: 17668063

Title: Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

PubMed ID: 17668063

DOI: 10.1371/journal.pone.0000685

PubMed ID: 18176953

Title: Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.

PubMed ID: 18176953

DOI: 10.1002/ajmg.a.32201

PubMed ID: 19429578

Title: Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.

PubMed ID: 19429578

DOI: 10.1136/bjo.2008.152140

PubMed ID: 19649163

Title: A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

PubMed ID: 19649163

PubMed ID: 20489584

Title: Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.

PubMed ID: 20489584

DOI: 10.1097/ico.0b013e3181c84bcf

PubMed ID: 20505825

Title: UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

PubMed ID: 20505825

DOI: 10.1371/journal.pone.0010760

PubMed ID: 23169578

Title: The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes.

PubMed ID: 23169578

DOI: 10.1002/humu.22230

Sequence Information:

  • Length: 338
  • Mass: 36831
  • Checksum: 02808542DB9EA249
  • Sequence:
    • MAASQVLGEK INILSGETVK AGDRDPLGND CPEQDRLPQR SWRQKCASYV LALRPWSFSA 
SLTPVALGSA LAYRSHGVLD PRLLVGCAVA VLAVHGAGNL VNTYYDFSKG IDHKKSDDRT 
LVDRILEPQD VVRFGVFLYT LGCVCAACLY YLSPLKLEHL ALIYFGGLSG SFLYTGGIGF 
KYVALGDLII LITFGPLAVM FAYAIQVGSL AIFPLVYAIP LALSTEAILH SNNTRDMESD 
REAGIVTLAI LIGPTFSYIL YNTLLFLPYL VFSILATHCT ISLALPLLTI PMAFSLERQF 
RSQAFNKLPQ RTAKLNLLLG LFYVFGIILA PAGSLPKI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.