Homo sapiens Protein: UACA
Summary
InnateDB Protein IDBP-19587.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol UACA
Protein Name uveal autoantigen with coiled-coil domains and ankyrin repeats
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000314556
InnateDB Gene IDBG-19585 (UACA)
Protein Structure
UniProt Annotation
Function Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regulates the redistribution of APAF1 into the nucleus after proapoptotic stress. Down-regulates the expression of LGALS3 by inhibiting NFKB1 (By similarity). {ECO:0000250}.Modulates isoactin dynamics to regulate the morphological alterations required for cell growth and motility. Interaction with ARF6 may modulate cell shape and motility after injury (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000269PubMed:15358194}. Cytoplasm {ECO:0000269PubMed:15358194}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:15358194}. Note=Expressed diffusely in cytoplasm.
Disease Associations
Tissue Specificity Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells. {ECO:0000269PubMed:11162650, ECO:0000269PubMed:15358194}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0008150 biological_process
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress
GO:0009411 response to UV
GO:0042307 positive regulation of protein import into nucleus
GO:0042347 negative regulation of NF-kappaB import into nucleus
GO:0043065 positive regulation of apoptotic process
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0050728 negative regulation of inflammatory response
Cellular Component
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0043293 apoptosome
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000727 Target SNARE coiled-coil domain
IPR002110 Ankyrin repeat
IPR009053 Prefoldin
IPR020683 Ankyrin repeat-containing domain
PFAM PF05739
PF00023
PF13606
PF11929
PF12796
PRINTS PR01415
PIRSF
SMART SM00397
SM00248
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BZF9
PhosphoSite PhosphoSite-Q9BZF9
TrEMBL
UniProt Splice Variant
Entrez Gene 55075
UniGene Hs.622978
RefSeq NP_060473
HUGO HGNC:15947
OMIM 612516
CCDS CCDS10235
HPRD 11657
IMGT
EMBL AB046781 AC009269 AC087699 AF322916 AK000990 AK055435 AL834464 BC113407 BC113409 CH471082
GenPept AAG49577 AAI13408 AAI13410 BAA91457 BAB13387 BAB70922 CAD39123 EAW77855