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UACA Gene

protein-coding   GIFtS: 56

GC15M068736
uveal autoantigen with coiled-coil domains and ankyrin repeats
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)
About This Section

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
External Ids
HGNC: 159471
Entrez Gene: 550752
UniProtKB: Q9BZF93
Ensembl: ENSG000001378317
Search outside databases for aliases for UACA gene

Previous GC identifers: GC15M066744 GC15M064046 GC15M068525 GC15M068665

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9
Function: Modulates isoactin dynamics to regulate the morphological alterations required for cell
growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury (By
similarity)

Gene Wiki entry 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

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  
(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: 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 the
complex, it probably interacts directly with APAF1. Interacts with LGALS3, ARF6 and ACTB (By
similarity)
Subcellular location: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Expressed diffusely in
cytoplasm
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 PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001008225.1  NP_060473.2  


    ENSEMBL proteins: 
    ENSP00000378766 ENSP00000369319 ENSP00000314556 


    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 (UACA)
    Browse Abnova for 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):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region NAS11162650
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005856 cytoskeleton IEA--
    About this table

    Antibodies for UACA: 
    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 (UACA), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (UACA)
    Novus Biologicals Antibodies for UACA

    Assays for UACA: 
    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)
    About This Section

    3 InterPro domains/families:
     IPR007596 Pox_A_type_inc
     IPR002110 ANK
     IPR000727 T_SNARE


       GeneDecks  UACA for the domains selected above  
    About GeneDecksing

    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

    (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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (UACA)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   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  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   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 of
    stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome
    up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the
    redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression
    of LGALS3 by inhibiting NFKB1 (By similarity)
    Function: Modulates isoactin dynamics to regulate the morphological alterations required for cell
    growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury (By
    similarity)
    Induction: Up-regulated after TSH stimulation

    4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Uaca):

    cellularendocrine/exocrine glandrenal/urinary systemreproductive system

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674 molecular_function ND--
    About this table

    (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 UACA (ENSP000003145563 Q9BZF92) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592MINT-48474
    LGALS3ENSP000002543013STRING (score=.924)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016032 viral reproduction IEA--
    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 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 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 (UACA)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   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  
    (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

    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


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

    45677_at2, 3 U95-B 1 1.00 1.00 0.96 1.42 H45100 0.80 1.00 0.91 1

    49078_at2, 3 U95-B 1 1.00 1.00 0.86 0.71 AA424983 0.60 1.00 0.82 1
    82945_at2, 3 U95-E 1 1.00 1.00 0.96 1.12 AW024696 0.80 1.00 0.91 1

    59858_at2, 3 U95-C 1 1.00 1.00 0.93 0.79 AA909630 0.60 1.00 0.82 1
    60607_r_at2, 3 U95-C 1 0.81 1.00 0.79 0.99 N26011 0.40 1.00 0.76 1

    223279_s_at2, 3 U133-B 1 1.00 1.00 -- -- AF322916 0.80 1.00 0.91 1

    238868_at2, 3 U133-B 1 1.00 1.00 -- -- AW264269 0.40 1.00 0.76 1

    236715_x_at2, 3 U133-B 19 1.00 0.69 -- -- BF056139 0.20 1.00 0.72 1

    223279_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1558356_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    238868_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    236715_x_at2 U133Plus2 19 1.00 0.69 -- -- -- -- -- -- --
    GeneDecks  UACA for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GTCTTTCTGG

    SOURCE GeneReport for Unigene cluster: Hs.108049

    UniProtKB/Swiss-Prot: UACA_HUMAN, Q9BZF9
    Tissue specificity: Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in
    choroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells

    (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 UACA gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    C3VS1   -- uveal autoantigen with coiled-coil domains and ankyrin more 86.18(n)
    86.15(a)
    403704  NM_001003112.1  NP_001003112.1 
    chimpanzee
    (Pan troglodytes)
    UACA1   -- uveal autoantigen with coiled-coil domains and ankyrin more 99.69(n)
    99.29(a)
    453547  XM_001174957.1  XP_001174957.1 
    cow
    (Bos taurus)
    UACA1   -- uveal autoantigen with coiled-coil domains and ankyrin more 87.94(n)
    88.94(a)
    281559  NM_174209.2  NP_776634.1 
    mouse
    (Mus musculus)
    Uaca1, 5 95
    uveal autoantigen with coiled-coil domains and ankyrin more1, 5 77.76(n)1
    79.94(a)1
    725651  NM_028283.21  NP_082559.11 
     AB0306475  AI1322105  (see all 13)
    chicken
    (Gallus gallus)
    UACA1   -- uveal autoantigen with coiled-coil domains and ankyrin more 69.78(n)
    65.82(a)
    415569  XM_413937.2  XP_413937.2 
    About this table        Species with no ortholog for UACA

    ENSEMBL Gene Tree for UACA
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for UACA gene
    RAI142  ANKRD242  ANKRD352  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/396 NCBI SNPs in UACA are shown (see all 396 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 125)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs64948891,2
    A,C,F,H68781337(+) CTAATG/AGCAAA 2 -- ut51 int1 ese37Minor allele frequency- A:0.20EU EA WA NA 686
    rs80373481,2
    A,C,F,H68844453(+) TTCTTT/GGCATT 1 -- ng31 tfbs311Minor allele frequency- G:0.17EU EA WA NA 980
    rs37433151,2
    C,F,H68747636(+) GAGCTA/GTTATC 2 I/T mis113Minor allele frequency- G:0.04EA EU WA 2712
    rs18964301,2
    C,F,H68735504(+) TCTAAA/TATCAA 2 -- ut317Minor allele frequency- T:0.01EU EA WA NA 560
    rs22171801,2
    C,H68735733(+) GGCAAG/AAATAG 2 -- ut314Minor allele frequency- A:0.00EU EA WA 418
    rs47773061,2
    A68842914(+) CCACCG/TGCCTG 1 -- ng310--------
    rs71665351,2
    H68781444(+) ACTTAG/CCTTGG 2 -- ut51 int14Minor allele frequency- C:0.00EU EA WA 414
    rs7205191,2
    H68734027(-) CATCAG/CAAAAG 2 -- ut316Minor allele frequency- C:0.00NA MN EU EA WA 684
    rs9340051,2
    A,C,F,H,O68747122(+) GGGGCA/GTATTT 2 Y/Y syn1 ese38Minor allele frequency- G:0.42NA EA MN EU WA 854
    rs47765251,2
    A,C,F,H68778979(+) ATTGAC/GGTCAC 2 T/T syn1 ese34Minor allele frequency- G:0.37EU EA WA 414
    About this table

    HapMap Linkage Disequilibrium images for UACA (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.)
    About This Section

    OMIM: 612516

    Human Genome Epidemiology Navigator: UACA (1 document)

    (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 UACA 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: 55075 HGNC: 15947 AceView: UACA Ensembl:ENSG00000137831 euGenes: HUgn55075
    ECgene: UACA H-InvDB: UACA
    (According to HUGE)
    About This Section

    HUGE: KIAA1561
    (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

      --
    (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 UACA:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for UACA-related products

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     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for UACA Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for UACA Browse small molecules at Sigma-Aldrich
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