UACA
Sign in to saveAlso known as NUCLING, uveal autoantigen with coiled-coil domains and ankyrin repeats
Uveal autoantigen with coiled-coil domains and ankyrin repeats is a protein that in humans is encoded by the UACA gene. Diseases associated with UACA include Graves' Disease. Among its related pathways are signaling by Rho GTPases and Intrinsic Pathway for Apoptosis. An important paralog of this gene is ANKRD24.
In the Vinony graph
Vinony's link graph records 2 inbound references to UACA, and connects out to PubMed, human chromosome 15 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 15.
Vinony links it to 5 Wikipedia language editions.
Gene data
UACA- Name
- uveal autoantigen with coiled-coil domains and ankyrin repeats
- Type
- protein-coding
- Position
- 70,654,554–70,763,570 (−)
- Aliases
- NUCLING
- Ensembl
- ENSG00000137831
- RefSeq RNA
- NM_001008224.3, NM_018003.4, XM_005254529.5, XM_011521752.4, XM_011521753.3
- RefSeq protein
- NP_001008225.1, NP_060473.2, XP_005254586.1, XP_011520054.2, XP_011520055.2
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
uveal autoantigen with coiled-coil domains and ankyrin repeats
- Symbol
- UACA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 15:70,654,554-70,763,570
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 74297
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/55075
- genomic end
- 70763558
- genomic start
- 70946893
- chromosome
- human chromosome 15
- cytogenetic location
- 15q23
- expressed in
- subthalamic nucleus
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
Uveal autoantigen with coiled-coil domains and ankyrin repeats is a protein that in humans is encoded by the UACA gene. Diseases associated with UACA include Graves' Disease. Among its related pathways are signaling by Rho GTPases and Intrinsic Pathway for Apoptosis. An important paralog of this gene is ANKRD24.
== References ==
Excerpted from Wikipedia’s “UACA” article, available under the CC BY-SA 4.0 licence.