UACA - uveal autoantigen with coiled-coil domains and ankyrin repeats Gene
Also Known as NUCLING
Species: Homo sapiens
About UACA
This gene has 14 transcripts (splice variants), 207 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 19.8), thyroid (RPKM 18.4) and 23 other tissues.
Summary
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]
UACA Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001008224.3 | NP_001008225.1 | uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 2 |
| NM_018003.4 | NP_060473.2 | uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 1 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17003112 | GOA |
UACA Protein Structure
Ank_2: Ankyrin repeats (3 copies) (38 - 124)
Ank_2: Ankyrin repeats (3 copies) (138 - 229)
- 0
- 300
- 600
- 900
- 1200
- 1416 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
uveal autoantigen with coiled-coil domains and ankyrin repeats |
|
UACA Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
UACA | Q9BZF9 | KRT40 | Homo sapiens | Q6A162 | 25416956 | |
|
Intra
|
UACA | Q9BZF9 | KRT40 | Homo sapiens | Q6A162 | 25416956 | |
|
Intra
|
UACA | Q9BZF9 | CCDC125 | Homo sapiens | Q86Z20 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | CCDC125 | Homo sapiens | Q86Z20 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | AHCYL1 | Homo sapiens | O43865 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | AHCYL1 | Homo sapiens | O43865 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | PRKAR1B | Homo sapiens | P31321 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | PRKAR1B | Homo sapiens | P31321 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | UBQLN2 | Homo sapiens | Q9UHD9 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | UBQLN2 | Homo sapiens | Q9UHD9 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | UBQLN2 | Homo sapiens | Q9UHD9 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | KRT31 | Homo sapiens | Q15323 | 32296183 | |
|
Intra
|
UACA | Q9BZF9 | KRT31 | Homo sapiens | Q15323 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Panuveitis |
|
|
| Graves' Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | UACA | VGNC | VGNC:66743 |
| Mus musculus | UACA | MGD | MGI:1919815 |
| Canis familiaris | UACA | VGNC | VGNC:48034 |
| Rattus norvegicus | UACA | RGD | RGD:1560011 |
| Macaca mulatta | UACA | VGNC | VGNC:78995 |
| Bos taurus | UACA | VGNC | VGNC:36558 |
| Others | UACA | NCBI |