UACA uveal autoantigen with coiled-coil domains and ankyrin repeats [Homo sapiens (human)] - Gene

Summary

Official Symbol: UACAprovided by HGNC
Official Full Name: uveal autoantigen with coiled-coil domains and ankyrin repeatsprovided by HGNC
Primary source: HGNC:HGNC:15947
See related: Ensembl:ENSG00000137831 MIM:612516; AllianceGenome:HGNC:15947
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NUCLING
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]
Expression: Ubiquitous expression in fat (RPKM 19.8), thyroid (RPKM 18.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q23

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (70654554..70778903, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (68477439..68601842, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (70946893..71055897, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lycopene inhibits RCAN1-mediated apoptosis by reducing ROS levels and by inhibiting NF-kappaB activation, Nucling induction, and the increase in apoptotic indices in neuronal cells.
Title: Lycopene inhibits regulator of calcineurin 1-mediated apoptosis by reducing oxidative stress and down-regulating Nucling in neuronal cells.
The down-regulation of APIP and UACA expression suggests that the threshold to activate the apoptosome apparatus may be decreased in non-small cell lung cancer cells.
Title: Down-regulated expression of apoptosis-associated genes APIP and UACA in non-small cell lung carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
UACA is a novel candidate for eye muscle autoantigens in thyroid-associated ophthalmopathy
Title: Detection of the novel autoantibody (anti-UACA antibody) in patients with Graves' disease.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of lung function phenotypes in a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-H82872 (e-PCR)
- UniSTS:8459

D15S1354 (e-PCR)
- UniSTS:4637

D8S2279 (e-PCR)
- UniSTS:473907

RH98418 (e-PCR)
- UniSTS:91735

D1S1423 (e-PCR)
- UniSTS:149619

RH123427 (e-PCR)
- UniSTS:135802

SHGC-56623 (e-PCR)
- UniSTS:19628

STS-N26051 (e-PCR)
- UniSTS:52932

Clone Names

FLJ10128, KIAA1561, MGC141967, MGC141969

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to oxidative stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: uveal autoantigen with coiled-coil domains and ankyrin repeats

Names: nuclear membrane binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_054898.1 RefSeqGene

Range

20266..129270

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001008224.3 → NP_001008225.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 2

See identical proteins and their annotated locations for NP_001008225.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a longer and alternate 5' exon, as compared to variant 1. The encoded isoform 2 has a shorter and distinct N-terminus, as compared to isoform 1.

Source sequence(s)

AB046781, AC087699, AF322916, AK055435, BC016881, BM693348, BU736944

Consensus CDS

CCDS32280.1

UniProtKB/TrEMBL

H0YNH8

Related

ENSP00000369319.2, ENST00000379983.6

Conserved Domains (5) summary

cd00204
Location:85 → 207

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

TIGR04523
Location:617 → 1289

Mplasa_alph_rch; helix-rich Mycoplasma protein

pfam12796
Location:92 → 184

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:187 → 239

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:121 → 151

ANK; ANK repeat [structural motif]
NM_018003.4 → NP_060473.2 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 1

See identical proteins and their annotated locations for NP_060473.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).

Source sequence(s)

AB046781, AC087699, AF322916, BM693348, BU736944, DA517503

Consensus CDS

CCDS10235.1

UniProtKB/Swiss-Prot

G3XAG2, Q14DD3, Q8N3B8, Q96NH6, Q9BZF9, Q9HCL1, Q9NWC6

UniProtKB/TrEMBL

B7ZKM6

Related

ENSP00000314556.6, ENST00000322954.11

Conserved Domains (5) summary

cd00204
Location:98 → 220

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

TIGR04523
Location:630 → 1302

Mplasa_alph_rch; helix-rich Mycoplasma protein

pfam12796
Location:105 → 197

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:200 → 252

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:134 → 164

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

70654554..70778903 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022395.2 → XP_016877884.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X4

UniProtKB/TrEMBL

H0YNH8
XM_017022394.3 → XP_016877883.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X3

UniProtKB/TrEMBL

B7ZKM6
XM_005254529.5 → XP_005254586.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X5

UniProtKB/TrEMBL

H0YNH8

Conserved Domains (6) summary

PRK03918
Location:283 → 809

PRK03918; chromosome segregation protein; Provisional

cd00204
Location:85 → 207

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

TIGR04523
Location:606 → 1278

Mplasa_alph_rch; helix-rich Mycoplasma protein

pfam12796
Location:92 → 184

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:187 → 239

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:121 → 151

ANK; ANK repeat [structural motif]
XM_011521753.3 → XP_011520055.2 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X2

UniProtKB/TrEMBL

H0YNH8
XM_011521752.4 → XP_011520054.2 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X1

UniProtKB/TrEMBL

H0YNH8
XM_047432783.1 → XP_047288739.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

68477439..68601842 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054378354.1 → XP_054234329.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X4
XM_054378353.1 → XP_054234328.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X3
XM_054378355.1 → XP_054234330.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X5
XM_054378352.1 → XP_054234327.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X2
XM_054378351.1 → XP_054234326.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X1
XM_054378356.1 → XP_054234331.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X6