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Aliases for UACA Gene

Aliases for UACA Gene

  • Uveal Autoantigen With Coiled-Coil Domains And Ankyrin Repeats 2 3 5
  • Nucling 2 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

Entrez Gene Summary for UACA Gene

  • This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]

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 and Graves' Disease. An important paralog of this gene is RAI14.

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. May be involved in multiple neurite formation (By similarity).

Gene Wiki entry for UACA Gene

Additional gene information for UACA Gene

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

Genomics for UACA Gene

Regulatory Elements for UACA Gene

Enhancers for UACA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H070740 1.4 Ensembl ENCODE dbSUPER 28.4 +21.0 21021 4 FOXA2 FEZF1 ZNF2 FOS TSHZ1 REST ZNF662 GLIS1 STAT3 HNF4A UACA RPL17P39 ENSG00000259532 GC15M070655
GH15H070712 1.3 Ensembl ENCODE dbSUPER 18.2 +49.6 49554 2 INSM2 FEZF1 ZNF2 ZBTB40 ZNF366 ZSCAN5C ZNF416 FOS KLF7 ZNF202 UACA RPL17P39 LARP6 ENSG00000259744 GC15M070655 ENSG00000259532
GH15H070790 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -30.2 -30245 6 GTF2F1 TBP FOXA2 JUN KLF17 RFX5 ZNF366 POLR2A SMC3 RCOR1 RPL29P30 UACA LARP6 ENSG00000259452
GH15H070722 1 Ensembl ENCODE 17.5 +40.7 40693 0 CTCF ZNF654 ZNF362 MAFG TRIM22 ZNF384 RAD21 RFX5 ZNF664 ZNF121 UACA GC15M070655 ENSG00000259532
GH15H070785 1.4 Ensembl ENCODE dbSUPER 11.7 -24.6 -24554 4 ELF3 PKNOX1 FOXA2 ARID4B SIN3A RAD21 RARA RFX5 TCF12 EGR1 RPL29P30 UACA LARP6 ENSG00000259452 ENSG00000259624
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UACA on UCSC Golden Path with GeneCards custom track

Promoters for UACA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000078843 493 2601 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 SP3 MXD4 NFYC REST

Genomic Location for UACA Gene

Chromosome:
15
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

Genes around UACA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UACA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with RAB39A (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

Post-translational modifications for UACA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UACA Gene

Domains & Families for UACA Gene

Gene Families for UACA Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UACA Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for UACA Gene

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. May be involved in multiple neurite formation (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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UACA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UACA gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 3
mitochondrion 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

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:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with UACA: view

Pathways & Interactions 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:0097190 apoptotic signaling pathway IEA --
GO:1901222 regulation of NIK/NF-kappaB signaling IEA --
genes like me logo Genes that share ontologies with UACA: view

No data available for Pathways by source and SIGNOR curated interactions for UACA Gene

Drugs & Compounds for UACA Gene

No Compound Related Data Available

Transcripts for UACA Gene

Unigene Clusters for UACA Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for UACA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for UACA Gene

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

This gene is overexpressed in Muscle - Skeletal (x7.0).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UACA Gene



Protein tissue co-expression partners for UACA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UACA Gene:

UACA

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.

Evidence on tissue expression from TISSUES for UACA Gene

  • Nervous system(4.2)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with UACA: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for UACA Gene

Orthologs for UACA Gene

This gene was present in the common ancestor of chordates.

Orthologs for UACA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UACA 33 34
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia UACA 33 34
  • 87.81 (n)
dog
(Canis familiaris)
Mammalia UACA 33 34
  • 86.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Uaca 33
  • 78.76 (n)
mouse
(Mus musculus)
Mammalia Uaca 33 16 34
  • 77.69 (n)
oppossum
(Monodelphis domestica)
Mammalia UACA 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves UACA 33 34
  • 69.78 (n)
lizard
(Anolis carolinensis)
Reptilia UACA 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uaca 33
  • 55.7 (n)
Str.18647 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4968 33
zebrafish
(Danio rerio)
Actinopterygii sb:cb472 33
  • 53.55 (n)
UACA 34
  • 43 (a)
OneToOne
sbcb472 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToMany
Species where no ortholog for UACA was found in the sources mined by GeneCards:
  • 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
rs74559933 Uncertain significance 70,669,463(+) GTACA(A/C/T)TGAAA splice-acceptor-variant
rs1000001675 -- 70,718,042(+) ACACA(C/T)ACACA intron-variant
rs1000023213 -- 70,739,431(+) AATCA(-/C)CCCTA intron-variant
rs1000028633 -- 70,689,970(+) ACTTA(C/T)GATTT intron-variant
rs1000053508 -- 70,767,106(+) GTGGT(C/G)GCAGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1235n106 CNV deletion 24896259
dgv2618n100 CNV loss 25217958
esv2669798 CNV deletion 23128226
esv2674549 CNV deletion 23128226
esv2749845 CNV deletion 23290073
esv2760038 CNV loss 17122850
esv3552642 CNV deletion 23714750
esv3636844 CNV loss 21293372
esv7243 CNV loss 19470904
nsv1035437 CNV loss 25217958
nsv1037098 CNV gain+loss 25217958
nsv1045720 CNV gain 25217958
nsv1052694 CNV loss 25217958
nsv1071219 CNV deletion 25765185
nsv1151119 CNV deletion 26484159
nsv1594 CNV insertion 18451855
nsv1595 CNV deletion 18451855
nsv436199 CNV deletion 17901297
nsv498849 CNV loss 21111241
nsv512402 CNV loss 21212237
nsv524129 CNV loss 19592680
nsv526172 CNV loss 19592680
nsv569816 CNV loss 21841781
nsv817696 CNV gain 17921354
nsv833049 CNV loss 17160897
nsv9274 CNV loss 18304495
nsv94433 CNV deletion 16902084

Variation tolerance for UACA Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UACA Gene

Human Gene Mutation Database (HGMD)
UACA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UACA

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

Disorders for UACA Gene

MalaCards: The human disease database

(2) MalaCards diseases for UACA Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
panuveitis
  • diffuse uveitis
graves' disease
  • toxic diffuse goiter
- elite association - COSMIC cancer census association via MalaCards
Search UACA in MalaCards View complete list of genes associated with diseases

Relevant External Links for UACA

Genetic Association Database (GAD)
UACA
Human Genome Epidemiology (HuGE) Navigator
UACA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UACA
genes like me logo Genes that share disorders with UACA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UACA Gene

Publications for UACA Gene

  1. Identification of a novel autoantigen UACA in patients with panuveitis. (PMID: 11162650) Yamada K … Nishimura Y (Biochemical and biophysical research communications 2001) 2 3 4 60
  2. 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for UACA Gene

Sources for UACA Gene

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