UACA

Protein-coding gene in the species Homo sapiens
UACA
Identifiers
AliasesUACA, NUCLING, uveal autoantigen with coiled-coil domains and ankyrin repeats
External IDsOMIM: 612516; MGI: 1919815; HomoloGene: 74297; GeneCards: UACA; OMA:UACA - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for UACA
Genomic location for UACA
Band15q23Start70,654,554 bp[1]
End70,763,558 bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for UACA
Genomic location for UACA
Band9|9 BStart60,701,824 bp[2]
End60,787,652 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
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. ^ a b c GRCh38: Ensembl release 89: ENSG00000137831 – Ensembl, May 2017
  2. ^ a b c 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.


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