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UBIAD1 Gene

protein-coding   GIFtS: 53

GC01P011268
UbiA prenyltransferase domain containing 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
OTTHUMP00000002069 2
RP4-796F18.1 2
SCCD 2, 5
TERE1 1, 2, 3, 5
Descriptions
Transitional epithelial response protein 1 3
UbiA prenyltransferase domain containing 1 2
transitional epithelia response protein 2
External Ids
HGNC: 307911
Entrez Gene: 299142
UniProtKB: Q9Y5Z93
Ensembl: ENSG000001209427
Search outside databases for aliases for UBIAD1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for UBIAD1:
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]

Gene Wiki entry for UBIAD1
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the UBIAD1 gene  

Entrez Gene cytogenetic band: 1p36-p34.1   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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P011268:     (about GC identifiers)

Start:
11,255,866 bp from pter
End:
11,277,699 bp from pter
Size:
21,834 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_021937.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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
Subcellular location: Membrane; Multi-pass membrane protein. Cytoplasm. Nucleus
Miscellaneous: Strongly down-regulated in transitional cell carcinoma of the bladder and in
prostate carcinoma (at protein level)
Secondary accessions: Q53GX3 Q5THD4
Alternative splicing: 2 isoforms:  Q9Y5Z9-1   Q9Y5Z9-2   

REFSEQ proteins: NP_037451.1  

ENSEMBL proteins: 
ENSP00000383689 ENSP00000366006 ENSP00000366000 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (UBIAD1)
Human Recombinant Proteins from Abnova (UBIAD1)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IDA11314041
GO:0005737 cytoplasm IDA11314041
GO:0016020 membrane IDA11314041
GO:0016021 integral to membrane IEA--
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Antibodies for UBIAD1: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (UBIAD1), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (UBIAD1)
Novus Biologicals Antibodies for UBIA1

Assays for UBIAD1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR000537 UbiA_prenyltransferase


   GeneDecks  UBIAD1 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9Y5Z9

ProtoNet protein and cluster: Q9Y5Z9

1 Blocks protein family: IPB000537 UbiA prenyltransferase

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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (UBIAD1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_013319

              Applied Biosystems Silencer® siRNAs for UBIAD1

              Sigma-Aldrich siRNA and siRNA Panels for UBIAD1  
                     Browse shRNA at Sigma-Aldrich  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for UBIAD1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_013319
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_013319
                                 untagged cDNA clone in CMV expression vector: NM_013319 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_013319

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004659 prenyltransferase activity IEA--
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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Interacting proteins for UBIAD1 (ENSP000003660063) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
PTCHD2ENSP000003742263STRING (score=.9)
DISP1ENSP000002844763STRING (score=.848)
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for UBIAD1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (UBIAD1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_013319

              Sigma-Aldrich siRNA and siRNA Panels for UBIAD1  
                     Browse shRNA at Sigma-Aldrich  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_013319  

REFSEQ mRNAs for UBIAD1 gene: 

NM_013319.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_013319  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_013319
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_013319
                                 untagged cDNA clone in CMV expression vector: NM_013319 

Additional cDNA sequence: 

AF117064.1 AK027433.1 AK074487.1 AK074890.1 AK222808.1 AY044167.1 BC004468.2 BT006832.1 
CR606264.1 

8 DOTS entries:

DT.311674  DT.100786000  DT.95268719  DT.92441570  DT.95099799  DT.121331322  DT.40112079  DT.92441578 

24/188 AceView cDNA sequences (see all 188 ):

BM727153 BU501248 BC004468 BQ057665 BG748032 N79746 CK301038 BQ682119 
CD243170 AI149901 BQ675042 CB126088 BQ064330 CA442942 AI286356 CK300453 
BU508330 AK074890 AW662600 AI374696 BM682429 BM927615 AA862446 BQ674860 

highest scoring ESTs for UBIAD1:

AA576113 AA098922 AA463546 AA702281 AA779898 AA862446 AF117064 AI002972 AI024570 AI026803 

Unigene Cluster for UBIAD1:

UbiA prenyltransferase domain containing 1
Hs.522933  [show with all ESTs]
Unigene Representative Sequence: NM_013319


GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:
ENST00000400896  ENST00000376810  ENST00000376804  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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UBIAD1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for UBIAD1

1 / 2 / 3

7 probe-sets matching UBIAD1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

50986_at2, 3 U95-B 1 1.00 1.00 0.34 1.18 AI266255 0.60 1.00 0.82 1

86868_at2, 3 U95-E 1 1.00 1.00 0.80 0.76 AA098922 0.80 1.00 0.91 1
58407_at2, 3 U95-C 1 1.00 1.00 0.76 1.07 AA576113 1.00 1.00 1.00 1

229348_at2, 3 U133-B 1 1.00 1.00 -- -- N30416 0.40 1.00 0.76 1

219131_at2, 3 U133-A 1 1.00 1.00 -- -- NM_013319 0.60 1.00 0.82 1

229348_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

219131_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  UBIAD1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
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Data from (Publications) and GNF BioGPS
    About these images
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CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.522933

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for UBIAD1 gene from 5/12 species (see all 12 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
UBIAD11   -- UbiA prenyltransferase domain containing 1 85.36(n)
89.02(a)
487446  XM_544571.1  XP_544571.1 
chimpanzee
(Pan troglodytes)
UBIAD11   -- UbiA prenyltransferase domain containing 1 99.31(n)
99.7(a)
457946  XM_001137312.1  XP_001137312.1 
cow
(Bos taurus)
UBIAD11   -- UbiA prenyltransferase domain containing 1 88.96(n)
91.27(a)
508501  XM_585287.3  XP_585287.3 
rat
(Rattus norvegicus)
Ubiad11   -- UbiA prenyltransferase domain containing 1 89.15(n)
91.72(a)
313706  XM_233672.3  XP_233672.1 
mouse
(Mus musculus)
Ubiad11, 5 45
UbiA prenyltransferase domain containing 11, 5 89.29(n)1
92.56(a)1
717071  NM_027873.21  NP_082149.11 
 AA5896445  AI4264635  (see all 25)
About this table        Species with no ortholog for UBIAD1

ENSEMBL Gene Tree for UBIAD1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/52 NCBI SNPs in UBIAD1 are shown (see all 52 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 36)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs37659061,2
C,F,H11269679(+) ACACCT/CACCCT 1 -- ut31 ese36Minor allele frequency- C:0.21EA EU WA 2008
rs170366311,2
C,F,H11270079(+) AGTTGC/TATTTG 1 -- ut31 ese311Minor allele frequency- T:0.10NA EU EA WA 966
rs115800611,2
C,H11268923(+) TCTTAA/GAGATA 1 -- ut316Minor allele frequency- G:0.01EU EA WA NA 600
--
rs30639611,2
C11269744(+) GACTG-/TTTG  
        
AGCAA
1 -- ut310--------
rs127432091,2
H11269188(+) TCCTGC/ATTTCT 1 -- ut314Minor allele frequency- A:0.00EU EA WA 416
--
rs107797531,2
A,C,F,H11264200(+) CATTGT/ACTTTT 1 -- int14Minor allele frequency- A:0.18EU EA WA 408
rs66859501,2
A,C,F,H11263059(+) gtgatG/Ttagct 1 -- int15Minor allele frequency- T:0.15EU EA WA 598
rs66857581,2
A,C,F,H11262929(+) CAGAGG/AGGGCA 1 -- int15Minor allele frequency- A:0.03EU EA WA 598
rs111217151,2
A,C,F,H11267926(+) AAAGAT/CAGCAA 1 -- int18Minor allele frequency- C:0.09NA EU EA WA 734
--
rs7279741,2
A,C,F11266846(+) GTGAGA/GGGAGG 1 -- int11Minor allele frequency- G:0.05MN 184
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HapMap Linkage Disequilibrium images for UBIAD1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 611632   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 a rare autosomal dominant disease characterized by progressive corneal
    opacification resulting from abnormal deposition of cholesterol and phospholipids
  • Human Gene Mutation Database: UBIAD1

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/15 PubMed articles for UBIAD1 gene (see all 15 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 29914 HGNC: 30791 AceView: TERE1 Ensembl:ENSG00000120942 euGenes: HUgn29914
    ECgene: UBIAD1 H-InvDB: UBIAD1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for UBIAD1 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for UBIAD1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for UBIAD1 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Browse shRNAs at Sigma-Aldrich Browse small molecules at Sigma-Aldrich
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     Antibodies for UBIA1

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