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    UACA uveal autoantigen with coiled-coil domains and ankyrin repeats [ Homo sapiens (human) ]

    Gene ID: 55075, updated on 28-Oct-2024

    Summary

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    Official Symbol
    UACAprovided by HGNC
    Official Full Name
    uveal autoantigen with coiled-coil domains and ankyrin repeatsprovided by HGNC
    Primary source
    HGNC:HGNC:15947
    See related
    Ensembl:ENSG00000137831 MIM:612516; AllianceGenome:HGNC:15947
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NUCLING
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 19.8), thyroid (RPKM 18.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UACA in Genome Data Viewer
    Location:
    15q23
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (70654554..70778903, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (68477439..68601842, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (70946893..71055897, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene FOXA motif-containing MPRA enhancer 168 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:70925493-70926031 Neighboring gene uncharacterized LOC107984791 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:70927977-70928121 Neighboring gene senescence associated long non-coding RNA 3 Neighboring gene senescence associated long non-coding RNA 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71002570-71003070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:71005595-71006134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71010983-71011484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6609 Neighboring gene ribosomal protein L29 pseudogene 30 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71145885-71146386 Neighboring gene La ribonucleoprotein 6, translational regulator Neighboring gene leucine rich repeat containing 49

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease. Ohkura T, et al. Biochem Biophys Res Commun, 2004 Aug 20. PMID 15358194
    2. (99)Tc(m)-octreotide scintigraphy and serum eye muscle antibodies in evaluation of active thyroid-associated ophthalmopathy. Sun B, et al. Eye (Lond), 2017 May. PMID 28387769, Free PMC Article
    3. Eleven candidate susceptibility genes for common familial colorectal cancer. Gylfe AE, et al. PLoS Genet, 2013. PMID 24146633, Free PMC Article
    4. Identification of novel binding partners for caspase-6 using a proteomic approach. Jung JY, et al. J Microbiol Biotechnol, 2014 May. PMID 24572280
    5. Novel mechanism of apoptosis resistance in cancer mediated by extracellular PAR-4. Burikhanov R, et al. Cancer Res, 2013 Jan 15. PMID 23204231, Free PMC Article

    See all (96) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lycopene inhibits RCAN1-mediated apoptosis by reducing ROS levels and by inhibiting NF-kappaB activation, Nucling induction, and the increase in apoptotic indices in neuronal cells.
      Title: Lycopene inhibits regulator of calcineurin 1-mediated apoptosis by reducing oxidative stress and down-regulating Nucling in neuronal cells.
    2. The down-regulation of APIP and UACA expression suggests that the threshold to activate the apoptosome apparatus may be decreased in non-small cell lung cancer cells.
      Title: Down-regulated expression of apoptosis-associated genes APIP and UACA in non-small cell lung carcinoma.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    4. UACA is a novel candidate for eye muscle autoantigens in thyroid-associated ophthalmopathy
      Title: Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of lung function phenotypes in a founder population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10128, KIAA1561, MGC141967, MGC141969

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of non-canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    uveal autoantigen with coiled-coil domains and ankyrin repeats
    Names
    nuclear membrane binding protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054898.1 RefSeqGene

      Range
      20266..129270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008224.3 → NP_001008225.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 2

      See identical proteins and their annotated locations for NP_001008225.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a longer and alternate 5' exon, as compared to variant 1. The encoded isoform 2 has a shorter and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AB046781, AC087699, AF322916, AK055435, BC016881, BM693348, BU736944
      Consensus CDS
      CCDS32280.1
      UniProtKB/TrEMBL
      H0YNH8
      Related
      ENSP00000369319.2, ENST00000379983.6
      Conserved Domains (5) summary
      cd00204
      Location:85 → 207
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      TIGR04523
      Location:617 → 1289
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam12796
      Location:92 → 184
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:187 → 239
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:121 → 151
      ANK; ANK repeat [structural motif]

    2. NM_018003.4 → NP_060473.2  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 1

      See identical proteins and their annotated locations for NP_060473.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      AB046781, AC087699, AF322916, BM693348, BU736944, DA517503
      Consensus CDS
      CCDS10235.1
      UniProtKB/Swiss-Prot
      G3XAG2, Q14DD3, Q8N3B8, Q96NH6, Q9BZF9, Q9HCL1, Q9NWC6
      UniProtKB/TrEMBL
      B7ZKM6
      Related
      ENSP00000314556.6, ENST00000322954.11
      Conserved Domains (5) summary
      cd00204
      Location:98 → 220
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      TIGR04523
      Location:630 → 1302
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam12796
      Location:105 → 197
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:200 → 252
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:134 → 164
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      70654554..70778903 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022395.2 → XP_016877884.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X4

      UniProtKB/TrEMBL
      H0YNH8

    2. XM_017022394.3 → XP_016877883.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X3

      UniProtKB/TrEMBL
      B7ZKM6

    3. XM_005254529.5 → XP_005254586.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X5

      UniProtKB/TrEMBL
      H0YNH8
      Conserved Domains (6) summary
      PRK03918
      Location:283 → 809
      PRK03918; chromosome segregation protein; Provisional
      cd00204
      Location:85 → 207
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      TIGR04523
      Location:606 → 1278
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam12796
      Location:92 → 184
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:187 → 239
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:121 → 151
      ANK; ANK repeat [structural motif]

    4. XM_011521753.3 → XP_011520055.2  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X2

      UniProtKB/TrEMBL
      H0YNH8

    5. XM_011521752.4 → XP_011520054.2  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X1

      UniProtKB/TrEMBL
      H0YNH8

    6. XM_047432783.1 → XP_047288739.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      68477439..68601842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378354.1 → XP_054234329.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X4

    2. XM_054378353.1 → XP_054234328.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X3

    3. XM_054378355.1 → XP_054234330.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X5

    4. XM_054378352.1 → XP_054234327.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X2

    5. XM_054378351.1 → XP_054234326.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X1

    6. XM_054378356.1 → XP_054234331.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZF9.2 GenPept UniProtKB/Swiss-Prot:Q9BZF9

    Gene LinkOut

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