UACA

Not to be confused with Uaçá River.

UACA
Identifiers
Aliases	UACA , NUCLING, uveal autoantigen with coiled-coil domains and ankyrin repeats
External IDs	OMIM: 612516; MGI: 1919815; HomoloGene: 74297; GeneCards: UACA; OMA:UACA - orthologs
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q23 Start 70,654,554 bp [1] End 70,763,558 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 B Start 60,701,824 bp [2] End 60,787,652 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon pancreatic ductal cell sural nerve cardia renal medulla ventral tegmental area pylorus nipple trigeminal ganglion subthalamic nucleus Top expressed in otolith organ ankle utricle muscle of thigh tibialis anterior muscle lumbar spinal ganglion esophagus medial head of gastrocnemius muscle skeletal muscle tissue knee joint More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding molecular function Cellular component extracellular region extracellular exosome cytoskeleton nucleus cytoplasm cytosol Biological process apoptotic signaling pathway regulation of NIK/NF-kappaB signaling biological process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55075 72565 Ensembl ENSG00000137831 ENSMUSG00000034485 UniProt Q9BZF9 Q8CGB3 RefSeq (mRNA) NM_001008224 NM_018003 NM_028283 NM_001357407 NM_001357408 RefSeq (protein) NP_001008225 NP_060473 NP_082559 NP_001344336 NP_001344337 Location (UCSC) Chr 15: 70.65 – 70.76 Mb Chr 9: 60.7 – 60.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Uveal autoantigen with coiled-coil domains and ankyrin repeats is a protein that in humans is encoded by the UACA gene. ^{[5] [6] [7]} Diseases associated with UACA include Graves' Disease. ^[8] Among its related pathways are signaling by Rho GTPases and Intrinsic Pathway for Apoptosis. An important paralog of this gene is ANKRD24. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000137831 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034485 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Yamada K, Senju S, Nakatsura T, Murata Y, Ishihara M, Nakamura S, et al. (February 2001). "Identification of a novel autoantigen UACA in patients with panuveitis". Biochemical and Biophysical Research Communications. 280 (4): 1169–1176. doi:10.1006/bbrc.2001.4189. PMID   11162650.
6. Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (August 2000). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (4): 273–281. doi: 10.1093/dnares/7.4.271 . PMID   10997877.
7. "Entrez Gene: UACA uveal autoantigen with coiled-coil domains and ankyrin repeats".
8. Ohkura T, Taniguchi S, Yamada K, Nishio N, Okamura T, Yoshida A, et al. (August 2004). "Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease". Biochemical and Biophysical Research Communications. 321 (2): 432–440. doi:10.1016/j.bbrc.2004.06.162. PMID   15358194.
9. "UniProt". www.uniprot.org. Retrieved 2023-06-07.

Further reading

• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Nakayama M, Kikuno R, Ohara O (November 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–1784. doi:10.1101/gr.406902. PMC   187542 . PMID   12421765.
• Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID   14743216. S2CID   11683986.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, et al. (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–716. doi:10.1038/nbt971. PMID   15146197. S2CID   27764390.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.