UACA
Uveal autoantigen with coiled-coil domains and ankyrin repeats
Also known as: FLJ10128, KIAA1561, UACA_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BZF9
- Gene
- UACA
- Ensembl
- ENSG00000137831
- Chromosome
- 15
- Canonical length
- 1416 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1416 residues, UniProt reviewed canonical sequence.
>Q9BZF9|UACA
1 MKSLKSRLRR QDVPGPASSG AAAASAHAAD WNKYDDRLMK AAERGDVEKV TSILAKKGVN
61 PGKLDVEGRS VFHVVTSKGN LECLNAILIH GVDITTSDTA GRNALHLAAK YGHALCLQKL
121 LQYNCPTEHA DLQGRTALHD AAMADCPSSI QLLCDHGASV NAKDVDGRTP LVLATQMSRP
181 TICQLLIDRG ADVNSRDKQN RTALMLGCEY GCRDAVEVLI KNGADISLLD ALGHDSSYYA
241 RIGDNLDILT LLKTASENTN KGRELWKKGP SLQQRNLTHM QDEVNVKSHQ REHQNIQDLE
301 IENEDLKERL RKIQQEQRIL LDKVNGLQLQ LNEEVMVADD LESEREKLKS LLAAKEKQHE
361 ESLRTIEALK NRFKYFESDH LGSGSHFSNR KEDMLLKQGQ MYMADSQCTS PGIPAHMQSR
421 SMLRPLELSL PSQTSYSENE ILKKELEAMR TFCESAKQDR LKLQNELAHK VAECKALALE
481 CERVKEDSDE QIKQLEDALK DVQKRMYESE GKVKQMQTHF LALKEHLTSE AASGNHRLTE
541 ELKDQLKDLK VKYEGASAEV GKLRNQIKQN EMIVEEFKRD EGKLIEENKR LQKELSMCEM
601 EREKKGRKVT EMEGQAKELS AKLALSIPAE KFENMKSSLS NEVNEKAKKL VEMEREHEKS
661 LSEIRQLKRE LENVKAKLAQ HVKPEEHEQV KSRLEQKSGE LGKKITELTL KNQTLQKEIE
721 KVYLDNKLLK EQAHNLTIEM KNHYVPLKVS EDMKKSHDAI IDDLNRKLLD VTQKYTEKKL
781 EMEKLLLEND SLSKDVSRLE TVFVPPEKHE KEIIALKSNI VELKKQLSEL KKKCGEDQEK
841 IHALTSENTN LKKMMSNQYV PVKTHEEVKM TLNDTLAKTN RELLDVKKKF EDINQEFVKI
901 KDKNEILKRN LENTQNQIKA EYISLAEHEA KMSSLSQSMR KVQDSNAEIL ANYRKGQEEI
961 VTLHAEIKAQ KKELDTIQEC IKVKYAPIVS FEECERKFKA TEKELKDQLS EQTQKYSVSE
1021 EEVKKNKQEN DKLKKEIFTL QKDLRDKTVL IEKSHEMERA LSRKTDELNK QLKDLSQKYT
1081 EVKNVKEKLV EENAKQTSEI LAVQNLLQKQ HVPLEQVEAL KKSLNGTIEN LKEELKSMQR
1141 CYEKEQQTVT KLHQLLENQK NSSVPLAEHL QIKEAFEKEV GIIKASLREK EEESQNKMEE
1201 VSKLQSEVQN TKQALKKLET REVVDLSKYK ATKSDLETQI SSLNEKLANL NRKYEEVCEE
1261 VLHAKKKEIS AKDEKELLHF SIEQEIKDQK ERCDKSLTTI TELQRRIQES AKQIEAKDNK
1321 ITELLNDVER LKQALNGLSQ LTYTSGNPTK RQSQLIDTLQ HQVKSLEQQL ADADRQHQEV
1381 IAIYRTHLLS AAQGHMDEDV QEALLQIIQM RQGLVCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UACA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 134 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 134 nTPM
- tongue: 99 nTPM
- blood vessel: 56 nTPM
- adipose tissue: 36 nTPM
- thyroid gland: 33 nTPM
- breast: 32 nTPM
Single-cell type
- podocytes: 995 nCPM
- myonuclei: 796 nCPM
- esophageal apical cells: 457 nCPM
- retinal pigment epithelial cells: 418 nCPM
- vascular endothelial cells: 306 nCPM
- lymphatic endothelial cells: 291 nCPM
Immune cell
- intermediate monocyte: 1.7 nTPM
- naive B-cell: 1.2 nTPM
- non-classical monocyte: 1.2 nTPM
- classical monocyte: 0.9 nTPM
- myeloid DC: 0.8 nTPM
- memory B-cell: 0.5 nTPM
Brain region
- choroid plexus: 44 nTPM
- white matter: 24 nTPM
- thalamus: 23 nTPM
- medulla oblongata: 21 nTPM
- basal ganglia: 20 nTPM
- midbrain: 20 nTPM
ReferencesPubMed · IEDB
Publications for UACA from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
3 publications
- Identification of a novel autoantigen UACA in patients with panuveitis.
2001 · Biochem Biophys Res Commun · RCR 0.8 · 34 citations - 99Tcm-octreotide scintigraphy and serum eye muscle antibodies in evaluation of active thyroid-associated ophthalmopathy.
2017 · Eye (Lond) · RCR 0.4 · 7 citations - Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease.
2004 · Biochem Biophys Res Commun · RCR 0.2 · 10 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.97
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.47
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- intrinsic apoptotic signaling pathway in response to DNA damage
- intrinsic apoptotic signaling pathway in response to oxidative stress
- negative regulation of inflammatory response
- negative regulation of non-canonical NF-kappaB signal transduction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UACA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UACA as an antibody target. Whether an autoantibody or antibody against UACA could matter depends on whether native UACA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UACA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease.
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