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] See more...

Aliases for UBIAD1 Gene

Aliases for UBIAD1 Gene

  • UbiA Prenyltransferase Domain Containing 1 2 3 5
  • UbiA Prenyltransferase Domain-Containing Protein 1 3 4
  • Transitional Epithelial Response Protein 1 3 4
  • Transitional Epithelia Response Protein 2 3
  • TERE1 3 4
  • Schnyder Crystalline Corneal Dystrophy 2
  • EC 2.5.1.- 4
  • SCCD 3

External Ids for UBIAD1 Gene

Previous HGNC Symbols for UBIAD1 Gene

  • SCCD

Previous GeneCards Identifiers for UBIAD1 Gene

  • GC01P011268
  • GC01P011255
  • GC01P011334
  • GC01P010484

Summaries for UBIAD1 Gene

Entrez Gene Summary for UBIAD1 Gene

  • 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]

GeneCards Summary for UBIAD1 Gene

UBIAD1 (UbiA Prenyltransferase Domain Containing 1) is a Protein Coding gene. Diseases associated with UBIAD1 include Schnyder Corneal Dystrophy and Corneal Dystrophy. Among its related pathways are Metabolism and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include antioxidant activity and prenyltransferase activity.

UniProtKB/Swiss-Prot Summary for UBIAD1 Gene

  • 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 an 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.

Gene Wiki entry for UBIAD1 Gene

Additional gene information for UBIAD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBIAD1 Gene

Genomics for UBIAD1 Gene

GeneHancer (GH) Regulatory Elements for UBIAD1 Gene

Promoters and enhancers for UBIAD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBIAD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBIAD1

Top Transcription factor binding sites by QIAGEN in the UBIAD1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • HOXA5
  • STAT3
  • STAT5A
  • TBP

Genomic Locations for UBIAD1 Gene

Genomic Locations for UBIAD1 Gene
chr1:11,273,198-11,296,595
(GRCh38/hg38)
Size:
23,398 bases
Orientation:
Plus strand
chr1:11,333,255-11,356,106
(GRCh37/hg19)
Size:
22,852 bases
Orientation:
Plus strand

Genomic View for UBIAD1 Gene

Genes around UBIAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBIAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBIAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBIAD1 Gene

Proteins for UBIAD1 Gene

  • Protein details for UBIAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Z9-UBIA1_HUMAN
    Recommended name:
    UbiA prenyltransferase domain-containing protein 1
    Protein Accession:
    Q9Y5Z9
    Secondary Accessions:
    • B3KQG3
    • Q53GX3
    • Q5THD4

    Protein attributes for UBIAD1 Gene

    Size:
    338 amino acids
    Molecular mass:
    36831 Da
    Quaternary structure:
    • Interacts with HMGCR and SOAT1.
    Miscellaneous:
    • Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level) (PubMed:11314041, PubMed:12497587).

    Alternative splice isoforms for UBIAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBIAD1 Gene

Post-translational modifications for UBIAD1 Gene

  • Ubiquitination at Lys10
  • Modification sites at PhosphoSitePlus

Other Protein References for UBIAD1 Gene

Antibody Products

  • Abcam antibodies for UBIAD1
  • Santa Cruz Biotechnology (SCBT) Antibodies for UBIAD1

No data available for DME Specific Peptides for UBIAD1 Gene

Domains & Families for UBIAD1 Gene

Gene Families for UBIAD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for UBIAD1 Gene

Blocks:
  • UbiA prenyltransferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UBIAD1 Gene

GenScript: Design optimal peptide antigens:
  • Transitional epithelial response protein 1 (UBIA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5Z9

UniProtKB/Swiss-Prot:

UBIA1_HUMAN :
  • Belongs to the UbiA prenyltransferase family.
Family:
  • Belongs to the UbiA prenyltransferase family.
genes like me logo Genes that share domains with UBIAD1: view

Function for UBIAD1 Gene

Molecular function for UBIAD1 Gene

UniProtKB/Swiss-Prot Function:
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 an 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.

Enzyme Numbers (IUBMB) for UBIAD1 Gene

Phenotypes From GWAS Catalog for UBIAD1 Gene

Gene Ontology (GO) - Molecular Function for UBIAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004659 prenyltransferase activity IDA,IBA 20953171
GO:0005515 protein binding IPI 23169578
GO:0016209 antioxidant activity IMP 23374346
GO:0016740 transferase activity IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
genes like me logo Genes that share ontologies with UBIAD1: view
genes like me logo Genes that share phenotypes with UBIAD1: view

Human Phenotype Ontology for UBIAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UBIAD1 Gene

MGI Knock Outs for UBIAD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for UBIAD1

CRISPR Products

miRNA for UBIAD1 Gene

miRTarBase miRNAs that target UBIAD1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for UBIAD1 Gene

Localization for UBIAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBIAD1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBIAD1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
extracellular 1
cytoskeleton 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UBIAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11314041
GO:0005737 cytoplasm IDA,IEA 11314041
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IBA,IDA 20953171
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with UBIAD1: view

Pathways & Interactions for UBIAD1 Gene

genes like me logo Genes that share pathways with UBIAD1: view

Pathways by source for UBIAD1 Gene

UniProtKB/Swiss-Prot Q9Y5Z9-UBIA1_HUMAN

  • Pathway: Quinol/quinone metabolism; menaquinone biosynthesis.
  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

SIGNOR curated interactions for UBIAD1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for UBIAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process IMP 23374346
GO:0009234 menaquinone biosynthetic process IMP,IBA 23169578
GO:0032194 ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate IBA 21873635
GO:0042371 vitamin K biosynthetic process IMP,IBA 23169578
GO:0042373 vitamin K metabolic process TAS --
genes like me logo Genes that share ontologies with UBIAD1: view

Drugs & Compounds for UBIAD1 Gene

No Compound Related Data Available

Transcripts for UBIAD1 Gene

mRNA/cDNA for UBIAD1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBIAD1 Gene

No ASD Table

Relevant External Links for UBIAD1 Gene

GeneLoc Exon Structure for
UBIAD1

Expression for UBIAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBIAD1 Gene

Protein differential expression in normal tissues from HIPED for UBIAD1 Gene

This gene is overexpressed in Testis (18.6), Pancreas (15.6), Peripheral blood mononuclear cells (12.9), and CD4 Tcells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBIAD1 Gene



Protein tissue co-expression partners for UBIAD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBIAD1

SOURCE GeneReport for Unigene cluster for UBIAD1 Gene:

Hs.522933

mRNA Expression by UniProt/SwissProt for UBIAD1 Gene:

Q9Y5Z9-UBIA1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for UBIAD1 Gene

  • Liver(4.2)
  • Lung(4.1)
  • Spleen(4.1)
  • Eye(3.2)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UBIAD1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with UBIAD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for UBIAD1 Gene

Orthologs for UBIAD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UBIAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBIAD1 31 30
  • 99.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ubiad1 17 31 30
  • 89.29 (n)
rat
(Rattus norvegicus)
Mammalia Ubiad1 30
  • 89.15 (n)
cow
(Bos Taurus)
Mammalia UBIAD1 31 30
  • 88.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UBIAD1 31 30
  • 85.36 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBIAD1 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBIAD1 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBIAD1 31 30
  • 74.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBIAD1 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubiad1 30
  • 68.97 (n)
Str.3124 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8923 30
zebrafish
(Danio rerio)
Actinopterygii ubiad1 31 30
  • 72.34 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3903 30
fruit fly
(Drosophila melanogaster)
Insecta heix 31 30
  • 58.21 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007897 30
  • 57.18 (n)
Species where no ortholog for UBIAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UBIAD1 Gene

ENSEMBL:
Gene Tree for UBIAD1 (if available)
TreeFam:
Gene Tree for UBIAD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBIAD1: view image

Paralogs for UBIAD1 Gene

genes like me logo Genes that share paralogs with UBIAD1: view

No data available for Paralogs for UBIAD1 Gene

Variants for UBIAD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBIAD1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs111893018 Likely Benign: Schnyder crystalline corneal dystrophy 11,287,695(+) C/T THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs111991610 Likely Benign: Schnyder crystalline corneal dystrophy 11,286,683(+) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs112789142 Likely Benign: Schnyder crystalline corneal dystrophy 11,286,551(+) C/T THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs113307594 Likely Benign: Schnyder crystalline corneal dystrophy 11,285,981(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
rs114000606 Likely Benign: Schnyder crystalline corneal dystrophy. - 11,273,755(+) C/Tp.Ser75Phe MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for UBIAD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for UBIAD1 Gene

Variant ID Type Subtype PubMed ID
nsv1144351 CNV deletion 24896259
nsv545407 CNV gain 21841781

Variation tolerance for UBIAD1 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBIAD1 Gene

Human Gene Mutation Database (HGMD)
UBIAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBIAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBIAD1 Gene

Disorders for UBIAD1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for UBIAD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schnyder corneal dystrophy
  • sccd
corneal dystrophy
stromal dystrophy
corneal deposit
  • deposits - cornea
transitional cell carcinoma
  • transitional carcinoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UBIA1_HUMAN
  • Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]: A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared. {ECO:0000269 PubMed:17668063, ECO:0000269 PubMed:17962451, ECO:0000269 PubMed:18176953, ECO:0000269 PubMed:19429578, ECO:0000269 PubMed:19649163, ECO:0000269 PubMed:20489584, ECO:0000269 PubMed:20505825, ECO:0000269 PubMed:23169578, ECO:0000269 PubMed:23374346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UBIAD1

genes like me logo Genes that share disorders with UBIAD1: view

No data available for Genatlas for UBIAD1 Gene

Publications for UBIAD1 Gene

  1. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. (PMID: 17668063) Orr A … Samuels M (PloS one 2007) 2 3 4 23 54
  2. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. (PMID: 20505825) Nickerson ML … Weiss JS (PloS one 2010) 3 4 23 54
  3. Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme. (PMID: 20953171) Nakagawa K … Okano T (Nature 2010) 2 3 4 54
  4. A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. (PMID: 19649163) Jing Y … Wang L (Molecular vision 2009) 3 4 23 54
  5. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. (PMID: 17962451) Weiss JS … Nickerson ML (Investigative ophthalmology & visual science 2007) 2 3 4 54

Products for UBIAD1 Gene

Sources for UBIAD1 Gene