UACA
Identifiers
AliasesUACA, NUCLING, uveal autoantigen with coiled-coil domains and ankyrin repeats
External IDsOMIM: 612516 MGI: 1919815 HomoloGene: 74297 GeneCards: UACA
Orthologs
SpeciesHumanMouse
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 MbChr 9: 60.7 – 60.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000137831 - Ensembl, May 2017
  2. 1 2 3 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


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