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Aliases & Descriptions for UBIAD1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for UBIAD1 gene |
Summaries for UBIAD1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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 |
Genomic Location 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) About This Section
| 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: 1p36.22UBIAD1 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
| Proteins for UBIAD1
(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)
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: 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 Q5THD4Alternative splicing: 2 isoforms: Q9Y5Z9-1 Q9Y5Z9-2 REFSEQ proteins: NP_037451.1
ENSEMBL proteins: ENSP00000383689 ENSP00000366006 ENSP00000366000
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for UBIAD1: Assays for UBIAD1: | Protein
Domains/ Families for UBIAD1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q9Y5Z9Similarity: Belongs to the ubiA prenyltransferase family | Gene Function for UBIAD1
(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.)
About This Section
|               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 
              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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004659 | prenyltransferase activity |
IEA | -- | About this table | Pathways & Interactions for UBIAD1
(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.)
About This Section
|
2 Interacting proteins for UBIAD1 (ENSP000003660063) via UniProtKB, MINT, and/or STRINGAbout this table
|
Drugs & Compounds for UBIAD1(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 Tocris compounds for UBIAD1
|
Transcripts 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
|               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
|
Expression for UBIAD1
(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
)
About This Section
| 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 Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.522933 UniProtKB/Swiss-Prot: UBIA1_HUMAN, Q9Y5Z9Tissue specificity: Ubiquitously expressed |
Orthologs for UBIAD1
(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
)
About this table Species with no ortholog for UBIAD1
ENSEMBL Gene Tree for UBIAD1 | Paralogs for UBIAD1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for UBIAD1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for UBIAD1 (up to first 250kb)
|
Disorders & Mutations for UBIAD1
(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.)
About This Section
|
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 phospholipidsHuman Gene Mutation Database: UBIAD1
|
Medical News for UBIAD1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for UBIAD1 (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
):- TERE1, a novel gene affecting growth regulation in prostate carcinoma. (PubMed id 12497587)2, 3, 4 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)2, 3, 4 McGarvey T.W....Malkowicz S.B. (2001)
- Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. (PubMed id 17962451)3, 4 Weiss J.S....Nickerson M.L. (2007)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)3, 4 Gregory S.G.... Bentley D.R. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. (PubMed id 17668063)1, 4 Orr A....Samuels M. (2007)
- Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. (PubMed id 18176953)3 Weiss J.S....Nickerson M.L. (2008)
- Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. (PubMed id 18361459)4 Weiss J.S.... Nickerson M.L. (2008)
- Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. (PubMed id 17960116)3 Yellore V.S....Aldave A.J. (2007)
- 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)3 Otsuki T....Isogai T. (2005)
|
Search for UBIAD1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing UBIAD1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing UBIAD1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing UBIAD1(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
|
| About This Section
| --
| Services for UBIAD1(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:

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Incremental update: 13 Oct 2009
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