Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 55075, updated on 4-Jul-2021

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UACA in Genome Data Viewer
    Location:
    15q23
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (70654554..70778823, complement)
    105.20201022 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 uncharacterized LOC107984791 Neighboring gene senescence associated long non-coding RNA 2 Neighboring gene ribosomal protein L29 pseudogene 30 Neighboring gene La ribonucleoprotein 6, translational regulator Neighboring gene leucine rich repeat containing 49

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of lung function phenotypes in a founder population.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in negative regulation of NIK/NF-kappaB signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001008224.3NP_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/Swiss-Prot
      Q9BZF9
      Related
      ENSP00000369319.2, ENST00000379983.6
      Conserved Domains (5) summary
      cd00204
      Location:85207
      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:6171289
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam12796
      Location:92184
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:187239
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:121151
      ANK; ANK repeat [structural motif]
    2. NM_018003.4NP_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
      Q9BZF9
      Related
      ENSP00000314556.6, ENST00000322954.11
      Conserved Domains (5) summary
      cd00204
      Location:98220
      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:6301302
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam12796
      Location:105197
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:200252
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:134164
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      70654554..70778823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521752.3XP_011520054.2  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X1

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

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

      Related
      ENSP00000438667.1, ENST00000539319.5
    4. XM_011521754.3XP_011520056.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X6

      Conserved Domains (1) summary
      pfam05483
      Location:278964
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
    5. XM_005254529.4XP_005254586.1  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X5

      Related
      ENSP00000454018.1, ENST00000560441.5
      Conserved Domains (6) summary
      PRK03918
      Location:283809
      PRK03918; chromosome segregation protein; Provisional
      cd00204
      Location:85207
      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:6061278
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      pfam12796
      Location:92184
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:187239
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:121151
      ANK; ANK repeat [structural motif]
    6. XM_011521753.2XP_011520055.2  uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X2

    Support Center