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

Gene ID: 55075, updated on 27-Nov-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
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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
  • 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. (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
  2. Eleven candidate susceptibility genes for common familial colorectal cancer. Gylfe AE, et al. PLoS Genet, 2013. PMID 24146633, Free PMC Article
  3. Identification of novel binding partners for caspase-6 using a proteomic approach. Jung JY, et al. J Microbiol Biotechnol, 2014 May. PMID 24572280
  4. 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
  5. Lycopene inhibits regulator of calcineurin 1-mediated apoptosis by reducing oxidative stress and down-regulating Nucling in neuronal cells. Lim S, et al. Mol Nutr Food Res, 2017 May. PMID 27928873

See all (97) 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)

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 actin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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

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