UACA - uveal autoantigen with coiled-coil domains and ankyrin repeats Gene

Homo sapiens

Also known as NUCLING

Gene ID: 55075 | Gene type: protein coding

About UACA

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:70,654,554-70,778,903 (from NCBI)

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17003112	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UACA Protein Structure

Ank_2

0
300
600
900
1200
1416 a.a.

Protein Preferred Names

Protein Names

uveal autoantigen with coiled-coil domains and ankyrin repeats

nuclear membrane binding protein

UACA Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	UACA	Q9BZF9	KRT40	Homo sapiens	Q6A162	Y2H Prey Pooling	25416956
Intra	UACA	Q9BZF9	KRT40	Homo sapiens	Q6A162	Validated Y2H	25416956
Intra	UACA	Q9BZF9	CCDC125	Homo sapiens	Q86Z20	Y2H Prey Pooling	32296183
Intra	UACA	Q9BZF9	CCDC125	Homo sapiens	Q86Z20	Y2H Array	32296183
Intra	UACA	Q9BZF9	AHCYL1	Homo sapiens	O43865	Y2H Prey Pooling	32296183
Intra	UACA	Q9BZF9	AHCYL1	Homo sapiens	O43865	Y2H Array	32296183
Intra	UACA	Q9BZF9	PRKAR1B	Homo sapiens	P31321	Y2H Prey Pooling	32296183
Intra	UACA	Q9BZF9	PRKAR1B	Homo sapiens	P31321	Y2H Array	32296183
Intra	UACA	Q9BZF9	UBQLN2	Homo sapiens	Q9UHD9	Y2H Prey Pooling	32296183
Intra	UACA	Q9BZF9	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183
Intra	UACA	Q9BZF9	UBQLN2	Homo sapiens	Q9UHD9	Y2H Array	32296183
Intra	UACA	Q9BZF9	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
Intra	UACA	Q9BZF9	KRT31	Homo sapiens	Q15323	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Panuveitis

Diffuse Uveitis	Total Uveitis
Inflammation Of The Whole Uveal Tract

Graves' Disease

Graves Disease	Exophthalmic Goiter
Basedow'S Disease	Grave'S Disease
Basedow Disease	Toxic Diffuse Goiter
Graves' Hyperthyroidism	Parry Disease
Autoimmune Hyperthyroidism	Toxic Multinodular Goiter

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15316	UACA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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