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

Gene ID: 55075, updated on 22-Aug-2020

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

Genomic context

See UACA in Genome Data Viewer
Location:
15q23
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (70654554..70778823, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (70946893..71055932, 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
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
biological_process ND
No biological Data available
more info
 
negative regulation of NIK/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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 109.20200815

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

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