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UBIAD1 Gene

protein-coding   GIFtS: 51
GCID: GC01P011334

UbiA Prenyltransferase Domain Containing 1

(Previous name: Schnyder crystalline corneal dystrophy)
(Previous symbol: SCCD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
UbiA Prenyltransferase Domain Containing 11 2     Transitional Epithelial Response Protein 12 3
SCCD1 2 5     Schnyder Crystalline Corneal Dystrophy1
TERE12 3 5     UbiA Prenyltransferase Domain-Containing Protein 12
Transitional Epithelia Response Protein1 2     EC 2.5.1.-3

External Ids:    HGNC: 307911   Entrez Gene: 299142   Ensembl: ENSG000001209427   OMIM: 6116325   UniProtKB: Q9Y5Z93   

Export aliases for UBIAD1 gene to outside databases

Previous GC identifers: GC01P011268 GC01P011255 GC01P010484


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 corneal dystrophy crystalline of schnyder, and landau-kleffner syndrome. GO annotations related to this gene include prenyltransferase activity and antioxidant activity.

UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9
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 biosyntetic 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

Gene Wiki entry for UBIAD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBIAD1 gene promoter:
         E2F-4   E2F-3a   TBP   E2F-2   STAT5A   E2F   E2F-1   HOXA5   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBIAD1 promoter sequence
   Search Chromatin IP Primers for UBIAD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBIAD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

UBIAD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBIAD1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P011334:  view genomic region     (about GC identifiers)

Start:
11,333,255 bp from pter      End:
11,356,106 bp from pter
Size:
22,852 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9 (See protein sequence)
Recommended Name: UbiA prenyltransferase domain-containing protein 1  
Size: 338 amino acids; 36831 Da
Subunit: 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)
Secondary accessions: B3KQG3 Q53GX3 Q5THD4
Alternative splicing: 2 isoforms:  Q9Y5Z9-1   Q9Y5Z9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBIAD1: NX_Q9Y5Z9

Explore proteomics data for UBIAD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys10
  • Modification sites at PhosphoSitePlus

  • See UBIAD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_037451.1  
    ENSEMBL proteins: 
     ENSP00000366006   ENSP00000366000   ENSP00000473612   ENSP00000473453  

    UBIAD1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR026046 UBIAD1
     IPR000537 UbiA_prenyltransferase

    Graphical View of Domain Structure for InterPro Entry Q9Y5Z9

    ProtoNet protein and cluster: Q9Y5Z9

    1 Blocks protein domain: IPB000537 UbiA prenyltransferase

    UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9
    Similarity: Belongs to the UbiA prenyltransferase family


    UBIAD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBIA1_HUMAN, Q9Y5Z9
    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 biosyntetic 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

         Enzyme Number (IUBMB): EC 2.5.1.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004659prenyltransferase activity IDA--
    GO:0005515protein binding IPI--
    GO:0016209antioxidant activity IMP--
         
    UBIAD1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBIAD1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBIAD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UBIAD1

    miRNA
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    miRTarBase miRNAs that target UBIAD1:
    hsa-mir-222-3p (MIRT046775), hsa-mir-192-5p (MIRT026804)

    Block miRNA regulation of human, mouse, rat UBIAD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBIAD1 (see all 31):
    hsa-miR-345 hsa-miR-631 hsa-miR-29c hsa-miR-29a hsa-miR-488 hsa-miR-431 hsa-miR-1205 hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidUBIAD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UBIAD1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBIAD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UBIA1_HUMAN, Q9Y5Z9: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;
    Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    mitochondrion5
    nucleus5
    plasma membrane3
    cytosol1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11314041
    GO:0005737cytoplasm IDA11314041
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane IDA11314041

    UBIAD1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9
    Pathway: Cofactor biosynthesis; menaquinone biosynthesis
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UBIAD1
    Interactions:

        Search GeneGlobe Interaction Network for UBIAD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for UBIAD1 (Q9Y5Z91 ENSP000003660064) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMGCRP040351EBI-6621921,EBI-465513
    SOAT1P356101EBI-2819725,EBI-6621955
    CLSTN1ENSP000003665134STRING: ENSP00000366513
    CTNNBIP1ENSP000003664664STRING: ENSP00000366466
    ACOT7ENSP000003670864STRING: ENSP00000367086
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006744ubiquinone biosynthetic process IMP--
    GO:0009234menaquinone biosynthetic process IMP--
    GO:0042371vitamin K biosynthetic process IMP--

    UBIAD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UBIAD1 (UBIA1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UBIAD1 gene: 
    NM_013319.2  

    Unigene Cluster for UBIAD1:

    UbiA prenyltransferase domain containing 1
    Hs.522933  [show with all ESTs]
    Unigene Representative Sequence: NM_013319
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376810(uc001asg.3) ENST00000376804 ENST00000486588 ENST00000483738

    miRNA
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    Block miRNA regulation of human, mouse, rat UBIAD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBIAD1 (see all 31):
    hsa-miR-345 hsa-miR-631 hsa-miR-29c hsa-miR-29a hsa-miR-488 hsa-miR-431 hsa-miR-1205 hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidUBIAD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UBIAD1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBIAD1
    Primer
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    OriGene qPCR primer pairs and template standards for UBIAD1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBIAD1
      QuantiTect SYBR Green Assays in human, mouse, rat UBIAD1
      QuantiFast Probe-based Assays in human, mouse, rat UBIAD1

    Additional mRNA sequence: 

    AF117064.1 AK027433.1 AK074487.1 AK074890.1 AK222808.1 AY044167.1 BC004468.2 BT006832.1 

    14 DOTS entries:

    DT.311674  DT.100786000  DT.92441570  DT.95099799  DT.121331322  DT.40112079  DT.451082  DT.92441578 
    DT.95072701  DT.120726158  DT.120827376  DT.92047273  DT.95268719  DT.97863626 

    Selected AceView cDNA sequences (see all 188):

    BP361871 BU508330 AI374696 AI286356 BQ431593 BT006832 BM785004 BQ058927 
    N79746 BG748032 AA779898 BQ675042 BE746381 AI149901 CA489858 CR606264 
    BQ057665 AA862446 BM740931 AI150093 AW662600 BM927615 AA505091 CA442942 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UBIAD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UBIAD1 Expression
    About this image

    UBIAD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBIAD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522933

    UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for UBIAD1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubiad11 , 5 UbiA prenyltransferase domain containing 11, 5 89.29(n)1
    92.56(a)1
      4 (78.76 cM)5
    717071  NM_027873.21  NP_082149.11 
     1484344955 
    chicken
    (Gallus gallus)
    Aves UBIAD11 UbiA prenyltransferase domain containing 1 74.77(n)
    81.85(a)
      419456  NM_001030879.1  NP_001026050.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBIAD16
    UbiA prenyltransferase domain containing 1
    79(a)
    1 ↔ 1
    GL343615.1(321677-329382)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.89232 Xenopus laevis transcribed sequence with weak similarity to protein refNP_037451.1 (H.sapiens) transitional epithelia response protein [Homo sapiens] less 75.54(n)    BX854719.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ubiad11 UbiA prenyltransferase domain containing 1 72.34(n)
    78.91(a)
      558410  NM_001199726.2  NP_001186655.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta heix1 heixuedian 58.21(n)
    59.64(a)
      34961  NM_078857.3  NP_523581.1 


    ENSEMBL Gene Tree for UBIAD1 (if available)
    TreeFam Gene Tree for UBIAD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBIAD1 gene
    Selected SIMAP similar genes for UBIAD1 using alignment to 3 protein entries:     UBIA1_HUMAN (see all proteins) (see all similar genes):
    CTSS    HKR1    TSEN2    LINC00596    LYRM4    UTY
    ZNF737    CHID1    DCTN5    ZNF283    ZNF738    AURA2
    FAM210A    FAM3A    HAUS1    NF2    QRICH2    ZNF212

    UBIAD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UBIAD1 (see all 377)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0643374
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0643372 A T mis40--------
    VAR_0437214
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0437212 G R mis40--------
    VAR_0437194
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0437192 S P mis40--------
    VAR_0437164
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0437162 D G mis40--------
    VAR_0643384
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0643382 G S mis40--------
    VAR_0643404
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0643402 V E mis40--------
    VAR_0437174
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0437172 R G mis40--------
    VAR_0437184
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0437182 L F mis40--------
    VAR_0643414
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0643412 V G mis40--------
    VAR_0437234
    Corneal dystrophy, Schnyder type (SCCD)4--see VAR_0437232 N S mis40--------

    HapMap Linkage Disequilibrium report for UBIAD1 (11333255 - 11356106 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for UBIAD1: --
    Human Gene Mutation Database (HGMD): UBIAD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBIAD1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611632   
    OMIM disorders: 121800  
    UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for UBIAD1:    
    About MalaCards
    corneal dystrophy crystalline of schnyder    landau-kleffner syndrome    corneal dystrophy    meniere's disease
    menieres disease    autosomal dominant disease    cystinosis    transitional cell carcinoma
    tuberculosis    malaria    multiple myeloma    myeloma
    prostatitis    endotheliitis

    3 diseases from the University of Copenhagen DISEASES database for UBIAD1:
    Corneal dystrophy     Meniere's disease     Landau-Kleffner syndrome

    UBIAD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UBIAD1

    Export disorders for UBIAD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UBIAD1 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with UBIAD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. (PubMed id 17668063)1, 2, 3, 9 Orr A.... Samuels M. (PLoS ONE 2007)
    2. Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme. (PubMed id 20953171)1, 2, 3 Nakagawa K.... Okano T. (Nature 2010)
    3. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. (PubMed id 17962451)1, 2, 3 Weiss J.S.... Nickerson M.L. (Invest. Ophthalmol. Vis. Sci. 2007)
    4. TERE1, a novel gene affecting growth regulation in prostate carcinoma. (PubMed id 12497587)1, 2, 3 McGarvey T.W....Malkowicz S.B. (Prostate 2003)
    5. Isolation and characterization of the TERE1 gene, a gene down- regulated in transitional cell carcinoma of the bladder. (PubMed id 11314041)1, 2, 3 McGarvey T.W....Malkowicz S.B. (Oncogene 2001)
    6. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. (PubMed id 20505825)1, 2, 9 Nickerson M.L.... Weiss J.S. (PLoS ONE 2010)
    7. A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. (PubMed id 19649163)1, 2, 9 Jing Y.... Wang L. (Mol. Vis. 2009)
    8. Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis. (PubMed id 23374346)1, 2 Mugoni V....Santoro M.M. (Cell 2013)
    9. The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes. (PubMed id 23169578)1, 2 Nickerson M.L.... Dean M. (Hum. Mutat. 2013)
    10. Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. (PubMed id 20489584)1, 2 Weiss J.S....Aldave A. (Cornea 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 29914 HGNC: 30791 AceView: TERE1 Ensembl:ENSG00000120942 euGenes: HUgn29914
    ECgene: UBIAD1 H-InvDB: UBIAD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UBIAD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UBIAD1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UBIAD1 gene:
    Search GeneIP for patents involving UBIAD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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