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Aliases for UACA Gene

Aliases for UACA Gene

  • Uveal Autoantigen With Coiled-Coil Domains And Ankyrin Repeats 2 3
  • NUCLING 3 6
  • Uveal Autoantigen With Coiled Coil Domains And Ankyrin Repeats 3
  • Nuclear Membrane Binding Protein 3
  • KIAA1561 4

External Ids for UACA Gene

Previous GeneCards Identifiers for UACA Gene

  • GC15M066744
  • GC15M064046
  • GC15M068525
  • GC15M068665
  • GC15M068736
  • GC15M070946
  • GC15M047782

Summaries for UACA Gene

GeneCards Summary for UACA Gene

UACA (Uveal Autoantigen With Coiled-Coil Domains And Ankyrin Repeats) is a Protein Coding gene. Diseases associated with UACA include panuveitis. An important paralog of this gene is ANKRD24.

UniProtKB/Swiss-Prot for UACA Gene

  • 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).

  • 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 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UACA Gene

Genomics for UACA Gene

Regulatory Elements for UACA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for UACA Gene

Start:
70,654,554 bp from pter
End:
70,763,593 bp from pter
Size:
109,040 bases
Orientation:
Minus strand

Genomic View for UACA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UACA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UACA Gene

Proteins for UACA Gene

  • Protein details for UACA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZF9-UACA_HUMAN
    Recommended name:
    Uveal autoantigen with coiled-coil domains and ankyrin repeats
    Protein Accession:
    Q9BZF9
    Secondary Accessions:
    • G3XAG2
    • Q14DD3
    • Q8N3B8
    • Q96NH6
    • Q9HCL1
    • Q9NWC6

    Protein attributes for UACA Gene

    Size:
    1416 amino acids
    Molecular mass:
    162505 Da
    Quaternary structure:
    • 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).
    Miscellaneous:
    • UACA is a possible target autoantigen in Vogt-Koyanagi-Harada (VKH), Behcet disease (BD) and sarcoidosis that cause different types of panuevitis
    SequenceCaution:
    • Sequence=BAA91457.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for UACA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UACA Gene

Proteomics data for UACA Gene at MOPED

Post-translational modifications for UACA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UACA Gene

No data available for DME Specific Peptides for UACA Gene

Domains for UACA Gene

Gene Families for UACA Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for UACA Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZF9

UniProtKB/Swiss-Prot:

UACA_HUMAN :
  • Q9BZF9
Similarity:
  • Contains 6 ANK repeats.
genes like me logo Genes that share domains with UACA: view

Function for UACA Gene

Molecular function for UACA Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
Up-regulated after TSH stimulation.

Gene Ontology (GO) - Molecular Function for UACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 17003112
genes like me logo Genes that share ontologies with UACA: view
genes like me logo Genes that share phenotypes with UACA: view

Animal Models for UACA Gene

MGI Knock Outs for UACA:

miRNA for UACA Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UACA

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for UACA Gene

Localization for UACA Gene

Subcellular locations from UniProtKB/Swiss-Prot for UACA Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Expressed diffusely in cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UACA Gene COMPARTMENTS Subcellular localization image for UACA gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
mitochondrion 4
cytosol 3

Gene Ontology (GO) - Cellular Components for UACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 11162650
GO:0005634 nucleus IDA --
GO:0005635 nuclear envelope IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with UACA: view

Pathways for UACA Gene

SuperPathways for UACA Gene

No Data Available

Gene Ontology (GO) - Biological Process for UACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA --
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress IEA --
GO:0009411 response to UV IEA --
GO:0042307 positive regulation of protein import into nucleus IEA --
genes like me logo Genes that share ontologies with UACA: view

No data available for Pathways by source for UACA Gene

Transcripts for UACA Gene

Unigene Clusters for UACA Gene

Uveal autoantigen with coiled-coil domains and ankyrin repeats:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UACA

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UACA Gene

No ASD Table

Relevant External Links for UACA Gene

GeneLoc Exon Structure for
UACA
ECgene alternative splicing isoforms for
UACA

Expression for UACA Gene

mRNA expression in normal human tissues for UACA Gene

mRNA differential expression in normal tissues according to GTEx for UACA Gene

This gene is overexpressed in Muscle - Skeletal (7.0).

Protein differential expression in normal tissues for UACA Gene

This gene is overexpressed in Salivary gland (8.1), Bone marrow stromal cell (8.1), and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UACA Gene

SOURCE GeneReport for Unigene cluster for UACA Gene Hs.108049

mRNA Expression by UniProt/SwissProt for UACA Gene

Q9BZF9-UACA_HUMAN
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.
genes like me logo Genes that share expressions with UACA: view

Expression partners for UACA Gene

In Situ Assay Products

Orthologs for UACA Gene

This gene was present in the common ancestor of chordates.

Orthologs for UACA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UACA 35
  • 87.81 (n)
  • 88.82 (a)
UACA 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UACA 35
  • 86.05 (n)
  • 86.03 (a)
UACA 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uaca 35
  • 77.69 (n)
  • 79.8 (a)
Uaca 16
Uaca 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UACA 35
  • 99.69 (n)
  • 99.29 (a)
UACA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uaca 35
  • 78.76 (n)
  • 80.51 (a)
oppossum
(Monodelphis domestica)
Mammalia UACA 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves UACA 35
  • 69.78 (n)
  • 65.82 (a)
UACA 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UACA 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18647 35
uaca 35
  • 55.7 (n)
  • 46.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4968 35
zebrafish
(Danio rerio)
Actinopterygii sb:cb472 35
  • 53.55 (n)
  • 44.83 (a)
sbcb472 35
UACA 36
  • 43 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToMany
Species with no ortholog for UACA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UACA Gene

ENSEMBL:
Gene Tree for UACA (if available)
TreeFam:
Gene Tree for UACA (if available)

Paralogs for UACA Gene

Paralogs for UACA Gene

genes like me logo Genes that share paralogs with UACA: view

Variants for UACA Gene

Sequence variations from dbSNP and Humsavar for UACA Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs720519 -- 70,654,634(-) CATCA(C/G)AAAAG utr-variant-3-prime
rs878777 -- 70,676,614(+) AAATA(C/G)AGTAA intron-variant
rs918820 -- 70,683,987(-) ACTAA(C/G)TTTTT intron-variant
rs918821 -- 70,752,583(-) ACTAG(A/G)GAGAG intron-variant
rs934005 -- 70,667,729(+) GGGGC(A/G)TATTT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for UACA Gene

Variant ID Type Subtype PubMed ID
nsv833049 CNV Loss 17160897
nsv1594 CNV Insertion 18451855
nsv524129 CNV Loss 19592680
nsv817696 CNV Gain 17921354
nsv526172 CNV Loss 19592680
nsv1595 CNV Loss 18451855
nsv436199 CNV Deletion 17901297
nsv512402 CNV Loss 21212237
esv2749845 CNV Deletion 23290073
esv2669798 CNV Deletion 23128226
nsv498849 CNV Loss 21111241
nsv94433 CNV Loss 16902084
esv7243 CNV Loss 19470904
esv2674549 CNV Deletion 23128226
nsv9274 CNV Loss 18304495
dgv754e1 CNV Complex 17122850

Relevant External Links for UACA Gene

HapMap Linkage Disequilibrium report
UACA
Human Gene Mutation Database (HGMD)
UACA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UACA Gene

Disorders for UACA Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for UACA Gene in MalaCards »

(1) Diseases for UACA Gene including...

(1) University of Copenhagen DISEASES for UACA Gene

Relevant External Links for UACA

Genetic Association Database (GAD)
UACA
Human Genome Epidemiology (HuGE) Navigator
UACA
genes like me logo Genes that share disorders with UACA: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for UACA Gene

Publications for UACA Gene

  1. 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. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. Identification of a novel autoantigen UACA in patients with panuveitis. (PMID: 11162650) Yamada K. … Nishimura Y. (Biochem. Biophys. Res. Commun. 2001) 2 3 4
  3. Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease. (PMID: 15358194) Ohkura T. … Shigemasa C. (Biochem. Biophys. Res. Commun. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for UACA Gene

Sources for UACA Gene

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