UBIAD1 Gene
protein-coding GIFtS: 47
GCID: GC01P011334
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UbiA prenyltransferase domain containing 1(Previous name: Schnyder crystalline corneal dystrophy )
(Previous symbol: SCCD)
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Aliases
for UBIAD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| UbiA Prenyltransferase Domain Containing 11 2 | | RP4-796F18.12 | | TERE11 2 3 5 | | Transitional Epithelia Response Protein2 | | SCCD1 2 5 | | UbiA Prenyltransferase Domain-Containing Protein 12 | | Transitional Epithelial Response Protein 12 3 | | EC 2.5.1.-3 | | Schnyder Crystalline Corneal Dystrophy1 | | |
Export aliases for UBIAD1 gene to outside databasesPrevious GC identifers: GC01P011268 GC01P011255 GC01P010484 |
Summaries
for UBIAD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for UBIAD1:
This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this geneare associated with Schnyder crystalline corneal dystrophy. (provided by RefSeq, Oct 2008)
UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9Function: Prenyltransferase that mediates the formation of menaquinone-4 (MK-4), a vitamin K2 isoform present at highconcentrations in the brain, kidney and pancreas. Mediates the conversion of phylloquinone (PK) into menaquinone-4(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
Gene Wiki entry for UBIAD1
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_021937.19
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for UBIAD1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 1p36.22UBIAD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P011334: view genomic region
(about GC identifiers)
Start:
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11,333,255 bp from pter |
End:
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11,356,106 bp from pter |
Size:
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22,852 bases |
Orientation:
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plus strand |
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Proteins
for UBIAD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9 (See
protein sequence)Recommended Name: UbiA prenyltransferase domain-containing protein 1 Size: 338 amino acids; 36831 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm. Nucleus. Mitochondrion
Miscellaneous: Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (atprotein level)
Secondary accessions: B3KQG3 Q53GX3 Q5THD4Alternative splicing: 2 isoforms: Q9Y5Z9-1 Q9Y5Z9-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for UBIAD1: NX_Q9Y5Z9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y5Z9
UBIAD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_037451.1
ENSEMBL proteins: ENSP00000366006 ENSP00000366000
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
UBIAD1 for ontologies About GeneDecksing
UBIAD1 Antibody Products:
Assay Products for UBIAD1: |
Protein
Domains /
Families
for UBIAD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
UBIAD1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y5Z9ProtoNet protein and cluster: Q9Y5Z9 1 Blocks protein family: IPB000537 UbiA prenyltransferase
UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9Similarity: Belongs to the UbiA prenyltransferase family |
Function
for UBIAD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9Function: Prenyltransferase that mediates the formation of menaquinone-4 (MK-4), a vitamin K2 isoform present at highconcentrations in the brain, kidney and pancreas. Mediates the conversion of phylloquinone (PK) into menaquinone-4(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-4Enzyme Number (IUBMB): EC 2.5.1.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UBIAD1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UBIAD1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for UBIAD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBIAD1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBIAD1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004659 | prenyltransferase activity |
IDA | -- |
UBIAD1 for ontologies About GeneDecksing
|
Pathways & Interactions
for UBIAD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9Pathway: Cofactor biosynthesis; menaquinone biosynthesisInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UBIAD1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/66 Interacting proteins for UBIAD1 (ENSP000003660064) via UniProtKB, MINT, STRING, and/or I2D (see all 66) About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0009234 | menaquinone biosynthetic process |
IEA | -- | | GO:0042371 | vitamin K biosynthetic process |
IDA | -- |
UBIAD1 for ontologies About GeneDecksing
|
Drugs & Compounds
for UBIAD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for UBIAD1
Search CenterWatch for drugs/clinical trials and news about UBIAD1 / UBIA1
|
Transcripts
for UBIAD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_0133194 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000376810(uc001asg.3) ENST00000376804 ENST00000486588 ENST00000483738
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UBIAD1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UBIAD1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: UBIAD1 (NM_013319) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for UBIAD1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBIAD1 |
Additional cDNA sequence: AF117064.1 AK027433.1 AK074487.1 AK074890.1 AK222808.1 AY044167.1 BC004468.2 BT006832.1 13 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.95268719 DT.97863626 24/188 AceView cDNA sequences (see all 188): CA489858 AA779898 BM740931 AK074890 BM727153 BT006832 BQ675042 F22494 AA357796 BQ057665 AI150093 AW662600 CA442942 BM682429 AI374696 AI286356 BM785004 AI149901 BM927615 AA862446 BG748032 AA505091 CK300453 BQ431593
GeneLoc Exon Structure
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Expression
for UBIAD1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| UBIAD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See UBIAD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UBIAD1
SOURCE GeneReport for Unigene cluster: Hs.522933
UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9Tissue specificity: Ubiquitously expressed
SABiosciences Custom PCR Arrays for UBIAD1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UBIAD1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UBIAD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UBIAD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UBIAD1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBIAD1 |
Orthologs
for UBIAD1 gene
(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)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for UBIAD1 gene from 9/24 species (see all 24) About this table
ENSEMBL Gene Tree for UBIAD1 (if available)
TreeFam Gene Tree for UBIAD1 (if available) |
Paralogs
for UBIAD1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for UBIAD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for UBIAD1 (11333255 - 11356106 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for UBIAD1: --
Human Gene Mutation Database (HGMD): UBIAD1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UBIAD1 |
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Disorders
/ Diseases
for UBIAD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
UBIAD1 for disorders About GeneDecksing
OMIM gene information: 611632
OMIM disorders: 121800
UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9
Defects in UBIAD1 are the cause of crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]. SCCD is arare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal depositionof cholesterol and phospholipids
14  diseases for UBIAD1: About MalaCardscorneal dystrophy corneal dystrophy crystalline of schnyder landau-kleffner syndrome cholesterol
autosomal dominant disease meniere's disease menieres disease transitional cell carcinoma
cystinosis prostate carcinoma carcinoma prostatitis
tuberculosis mycobacterium tuberculosis
3 diseases from the University of Copenhagen DISEASES database for UBIAD1:Corneal dystrophy Meniere's disease Landau-Kleffner syndrome Export disorders for UBIAD1 gene to outside databases
|
Publications
for UBIAD1 gene (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)
About This Section
|
PubMed articles for UBIAD1 gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with UBIAD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2007)
- Identification of UBIAD1 as a novel human menaquinone -4 biosynthetic enzyme. (PubMed id 20953171)1, 2, 3 Nakagawa K....Okano T. (2010)
- 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. (2007)
- TERE1, a novel gene affecting growth regulation in prostate carcinoma. (PubMed id 12497587)1, 2, 3 McGarvey T.W....Malkowicz S.B. (2003)
- 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. (2001)
- UBIAD1 mutation alters a mitochondrial prenyltransfer ase to cause Schnyder corneal dystrophy. (PubMed id 20505825)1, 2, 9 Nickerson M.L....Weiss J.S. (2010)
- A novel UBIAD1 mutation identified in a Chinese famil y with Schnyder crystalline corneal dystrophy. (PubMed id 19649163)1, 2, 9 Jing Y....Wang L. (2009)
- Newly reported p.Asp240Asn mutation in UBIAD1 suggest s central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. (PubMed id 20489584)1, 2 Weiss J.S....Aldave A. (2010)
- Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corne al dystrophy. (PubMed id 19429578)1, 2 Mehta J.S....Tan D.T. (2009)
- Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. (PubMed id 18176953)1, 2 Weiss J.S....Nickerson M.L. (2008)
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External Searches for UBIAD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing UBIAD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing UBIAD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing UBIAD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| 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
|
Products
for UBIAD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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 | |
 |
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variant library, vector shuttling | | | OriGene Custom Antibody Services for UBIAD1 | | OriGene Custom Protein Services for UBIAD1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat UBIAD1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UBIAD1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBIAD1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UBIAD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UBIAD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UBIAD1 |
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 | | | UBIAD1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBIAD1 |
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