Details for: UBIAD1

Gene ID: 29914

Symbol: UBIAD1

Ensembl ID: ENSG00000120942

Description: UbiA prenyltransferase domain containing 1

Associated with

Cells (max top 100)

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

  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.35
    Marker Score: 2,563
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.12
    Marker Score: 17,555
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,740
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,965
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,399
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.98
    Marker Score: 589
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,402
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,713
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,246
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4,922
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.85
    Marker Score: 1,067
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.82
    Marker Score: 1,668
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.81
    Marker Score: 1,075
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,262
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 301
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.75
    Marker Score: 216
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 567
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2,889
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 611
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.67
    Marker Score: 318
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.66
    Marker Score: 2,573
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.61
    Marker Score: 7,136
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.59
    Marker Score: 1,150
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.58
    Marker Score: 395
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.58
    Marker Score: 620
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.57
    Marker Score: 2,397
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.55
    Marker Score: 960
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.54
    Marker Score: 775
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.54
    Marker Score: 3,227
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.53
    Marker Score: 234
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.52
    Marker Score: 391
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.52
    Marker Score: 27,527
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.52
    Marker Score: 342
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.52
    Marker Score: 1,179
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.51
    Marker Score: 791
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.5
    Marker Score: 490
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5
    Marker Score: 524
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.5
    Marker Score: 202
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.49
    Marker Score: 260
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.49
    Marker Score: 512
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.49
    Marker Score: 1,894
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.49
    Marker Score: 130
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.49
    Marker Score: 268
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.48
    Marker Score: 2,077
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.47
    Marker Score: 345
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.47
    Marker Score: 508
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.47
    Marker Score: 1,109
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.47
    Marker Score: 332
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.47
    Marker Score: 1,391
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.47
    Marker Score: 342
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.46
    Marker Score: 145
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.46
    Marker Score: 315
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.46
    Marker Score: 1,763
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.46
    Marker Score: 1,120
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.45
    Marker Score: 99
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.45
    Marker Score: 640
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.45
    Marker Score: 145
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 0.45
    Marker Score: 801
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.44
    Marker Score: 153
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.43
    Marker Score: 398
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.43
    Marker Score: 209
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.43
    Marker Score: 181
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.43
    Marker Score: 6,471
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.43
    Marker Score: 449
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.43
    Marker Score: 414
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 0.43
    Marker Score: 403
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.43
    Marker Score: 1,741
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.43
    Marker Score: 5,733
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 0.43
    Marker Score: 105
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.43
    Marker Score: 429
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.43
    Marker Score: 899
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.43
    Marker Score: 212
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.42
    Marker Score: 3,648
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.42
    Marker Score: 268
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.42
    Marker Score: 1,008
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.42
    Marker Score: 377
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.42
    Marker Score: 418
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.42
    Marker Score: 3,130
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.42
    Marker Score: 307
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.42
    Marker Score: 111
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.42
    Marker Score: 1,020
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.42
    Marker Score: 125
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.42
    Marker Score: 203
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.42
    Marker Score: 452
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 0.41
    Marker Score: 401
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.41
    Marker Score: 15,296
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.41
    Marker Score: 416
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.41
    Marker Score: 92
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.41
    Marker Score: 109
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.41
    Marker Score: 311
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.41
    Marker Score: 178
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.4
    Marker Score: 128
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4
    Marker Score: 96
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4
    Marker Score: 2,563

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 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.