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Aliases & Descriptions for UACA
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases FLJ10128 1 , 2 KIAA1561 1 , 2 , 3 MGC141967 2 MGC141969 2 NUCLING 2 , 5
Descriptions nuclear membrane binding protein 2 uveal autoantigen with coiled coil domains and ankyrin repeats 2 uveal autoantigen with coiled-coil domains and ankyrin repeats 2
Search outside databases for aliases for UACA genePrevious GC identifers: GC15M066744 GC15M064046 GC15M068525 GC15M068665
Summaries for UACA (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9 Function : Modulates isoactin dynamics to regulate the morphological alterations required for cellgrowth and motility. Interaction with ARF6 may modulate cell shape and motility after injury (Bysimilarity)
Gene Wiki entry for UACA
Genomic Location for UACA
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the UACA gene Entrez Gene cytogenetic band: 15q22-q24 Ensembl cytogenetic band: 15q23 HGNC cytogenetic band: 15q22-q24 UACA 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 15 GeneLoc Exon Structure
GeneLoc location for GC15M068736:
(about GC identifiers )
Start:
68,733,947 bp from pter
End:
68,842,904 bp from pter
Size:
108,958 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000015.8 NT_010194.16 Proteins for UACA
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: UACA_HUMAN, Q9BZF9 (See
protein sequence )Recommended Name: Uveal autoantigen with coiled-coil domains and ankyrin repeats Size : 1416 amino acids; 162505 Da
Subunit : Component of the apoptosome complex, composed of APAF1, pro-caspase-9 and UACA. In thecomplex, it probably interacts directly with APAF1. Interacts with LGALS3, ARF6 and ACTB (Bysimilarity)
Subcellular location : Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Expressed diffusely incytoplasm
Miscellaneous : UACA is a possible target autoantigen in Vogt-Koyanagi-Harada (VKH), Behcet disease(BD) and sarcoidosis that cause different types of panuevitis
Secondary accessions : Q14DD3 Q8N3B8 Q9HCL1 Q9NWC6
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001008225.1 NP_060473.2 ENSEMBL proteins: ENSP00000378766 ENSP00000369319 ENSP00000314556 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 UACA: Assays for UACA:
Protein
Domains/ Families for UACA(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9BZF9 ProtoNet protein and cluster: Q9BZF9
1 Blocks protein family : IPB002110 Ankyrin repeat signature UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9 Similarity : Contains 6 ANK repeats
Gene Function for UACA
(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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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_018003 Applied Biosystems Silencer ® siRNAs for UACA Sigma-Aldrich siRNA for UACA Sigma-Aldrich shRNA for UACA Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001008224                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001008224                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001008224  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_018003 UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9 Function : Regulates APAF1 expression and plays an important role in the regulation ofstress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosomeup-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates theredistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expressionof LGALS3 by inhibiting NFKB1 (By similarity) Function : Modulates isoactin dynamics to regulate the morphological alterations required for cellgrowth and motility. Interaction with ARF6 may modulate cell shape and motility after injury (Bysimilarity) Induction : Up-regulated after TSH stimulation
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Uaca) :1 Gene Ontology (GO) molecular function term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0003674 molecular_function
ND --
About this table
Pathways & Interactions for UACA
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
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 UACA (ENSP00000314556 3 Q9BZF9 2 ) via UniProtKB, MINT, and/or STRING About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0016032 viral reproduction
IEA --
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Drugs & Compounds for UACA (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 )
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Browse Tocris compounds for UACA
Transcripts for UACA(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
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siRNAs from Applied Biosystems ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_018003 Sigma-Aldrich siRNA for UACA Sigma-Aldrich shRNA for UACA Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001008224 NM_018003
REFSEQ mRNAs for UACA gene (2 alternative transcripts): NM_001008224.1 NM_018003.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001008224 NM_018003
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001008224                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001008224                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001008224  
Additional cDNA sequence: AB046781.2 AF322916.1 AK000990.1 AK055435.1 AK057207.1 AL834243.1 AL834464.1 BC016881.1 BC113407.1 BC113409.1 BC143266.1 BC143267.1
12 DOTS entries : DT.452469 DT.91743283 DT.75106426 DT.100783434 DT.91977897 DT.100025907 DT.99996995 DT.91695802 DT.92433721 DT.100783436 DT.95281787 DT.100783438
24/173 AceView cDNA sequences (see all 173
):AA588212 BU675487 BG621057 N44315 AI923393 BQ233148 AK000990 CA438868 AA418895 CA392301 CB241591 BF966001 BQ019855 CA446520 CA446221 AA593576 BQ010403 AI886174 BQ431542 BG253578 BF796781 AA424983 CB044797 BG176687
highest scoring ESTs for UACA :AB046781 AF322916 AL044711 AW024696 H45100 AA159780 AA159781 AA197064 AA211272 AA248271
Unigene Cluster for UACA: Uveal autoantigen with coiled-coil domains and ankyrin repeats Hs.108049 [show with all ESTs ] Unigene Representative Sequence: NM_001008224 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations : ENST00000395362
ENST00000379983
ENST00000322954
Expression for UACA
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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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UACA expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for UACA 1 / 2 / 3
12 probe-sets matching UACA gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTCTTTCTGGSOURCE GeneReport for Unigene cluster: Hs.108049 UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9 Tissue specificity : Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed inchoroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells
Orthologs for UACA
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for UACA gene from 5/8 species (see all 8
)
About this table Species with no ortholog for UACA ENSEMBL Gene Tree for UACA Paralogs for UACA (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for UACA gene RAI14 2 ANKRD24 2 ANKRD35 2
SNPs/Variants for UACA (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for UACA (up to first 250kb)
Disorders & Mutations for UACA
(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: 612516 Human Genome Epidemiology Navigator: UACA (1 document)
Medical News for UACA (Possibly Related Articles in
Doctor's Guide )
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--
Publications for UACA (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/15 PubMed articles for UACA gene (see all 15
): Identification of a novel autoantigen UACA in patients with panuveitis. (PubMed id 11162650) 2, 3, 4 Yamada K.... Nishimura Y. (2001) Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877) 2, 3, 4 Nagase T....Ohara O. (2000) 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935) 3, 4 Beausoleil S.A....Gygi S.P. (2004) Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease. (PubMed id 15358194) 3, 4 Ohkura T.... Shigemasa C. (2004) Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061) 3 Trynka G....Wijmenga C. (2009) Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. (PubMed id 18083107) 4 Rikova K....Comb M.J. (2007) The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005) 4 Bechtel S....Schupp I. (2007) Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197) 3 Brandenberger R.... Stanton L.W. (2004)
Search for UACA
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Genome Databases showing UACA
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing UACA
(According to HUGE )
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Specialized Databases showing UACA (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
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-- Services for UACA (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
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Products for UACA:
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