Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Uacaprovided by MGI
Official Full Name: uveal autoantigen with coiled-coil domains and ankyrin repeatsprovided by MGI
Primary source: MGI:MGI:1919815
See related: Ensembl:ENSMUSG00000034485 AllianceGenome:MGI:1919815
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: nucling; 2700059D02Rik
Summary: Acts upstream of or within several processes, including intrinsic apoptotic signaling pathway; negative regulation of NIK/NF-kappaB signaling; and positive regulation of protein import into nucleus. Located in several cellular components, including cytosol; nuclear envelope; and perinuclear region of cytoplasm. Part of apoptosome. Is expressed in several structures, including cerebral cortex ventricular layer; genitourinary system; heart; liver; and lung. Used to study hepatocellular carcinoma. Orthologous to human UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 12.9), CNS E11.5 (RPKM 8.3) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 B; 9 32.93 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (60700488..60787713)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (60793206..60880431)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nucling plays an important role in mammary gland involution by regulating NF-kappaB and STAT3 signaling pathways
Title: Nucling, a novel apoptosis-associated protein, controls mammary gland involution by regulating NF-κB and STAT3.
Findings indicate that UACA functions as a Rab39A effector in the retinoic acid-induced differentiation of Neuro2A cells.
Title: Small GTPase Rab39A interacts with UACA and regulates the retinoic acid-induced neurite morphology of Neuro2A cells.
Data from knockout mice suggest that nucling plays important role in induction of apoptosis in liver/hepatocytes damaged by cytotoxic stressors; nucling acts through modulation of NFkappaB signaling.
Title: Nucling, a novel protein associated with NF-κB, regulates endotoxin-induced apoptosis in vivo.
Nucling expression is induced by canonical NF-kappaB signalling pathway, whereas Nucling is undergoing proteasome degradation, as well as being cleaved by caspase system under stress conditions
Title: NF-kappaB regulates the expression of Nucling, a novel apoptosis regulator, with involvement of proteasome and caspase for its degradation.
Nucling deficiency could be a powerful tool to reveal the NF-kappaB-related molecular networks leading to hepatitis and hepatocellular carcinoma development.
Title: Inflammatory disease and cancer with a decrease in Kupffer cell numbers in Nucling-knockout mice.
a novel function of Nucling as a suppressor of nuclear factor-kappaB, mediated by its cytoplasmic retention through physical interaction
Title: Nucling interacts with nuclear factor-kappaB, regulating its cellular distribution.
Nucling was shown to interfere with NF-kappaB activation via the nuclear translocation process of NF-kappaB/p65, thus inhibiting the expression of galectin-3.
Title: Nucling mediates apoptosis by inhibiting expression of galectin-3 through interference with nuclear factor kappaB signalling.
These results indicate an important role for Nucling in MPTP-induced neuronal degeneration and suggest that the suppression of Nucling would be of therapeutic benefit for the treatment of neurodegeneration in PD.
Title: Attenuation of MPTP-induced neurotoxicity and locomotor dysfunction in Nucling-deficient mice via suppression of the apoptosome pathway.
expressed specifically in cardiomuscular tissue and up-regulated during cardiac differentiation in the developing embryo
Title: Identification of a novel, embryonal carcinoma cell-associated molecule, nucling, that is up-regulated during cardiac muscle differentiation.
Nucling recruits and transports the apoptosome complex during stress-induced apoptosis
Title: Nucling recruits Apaf-1/pro-caspase-9 complex for the induction of stress-induced apoptosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription regulator inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to UV	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of apoptosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: nuclear membrane binding protein NUCLING; 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.

mRNA and Protein(s)

NM_001357407.1 → NP_001344336.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC156940, AC160562

Consensus CDS

CCDS90590.1

UniProtKB/Swiss-Prot

Q69ZG3, Q7TN77, Q8BJC8, Q8CGB3

UniProtKB/TrEMBL

A0A1L1SVG0

Related

ENSMUSP00000151172.2, ENSMUST00000214354.2

Conserved Domains (4) summary

cd00204
Location:99 → 222

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 ...

sd00045
Location:136 → 166

ANK; ANK repeat [structural motif]

pfam11932
Location:1291 → 1375

DUF3450; Protein of unknown function (DUF3450)

cl25732
Location:485 → 1308

SMC_N; RecF/RecN/SMC N terminal domain
NM_001357408.1 → NP_001344337.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC156940, AC160562

UniProtKB/TrEMBL

A0A1L1STY4

Related

ENSMUSP00000150547.2, ENSMUST00000217656.2

Conserved Domains (3) summary

cd00204
Location:99 → 222

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 ...

sd00045
Location:136 → 166

ANK; ANK repeat [structural motif]

cl25732
Location:445 → 1200

SMC_N; RecF/RecN/SMC N terminal domain
NM_028283.3 → NP_082559.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform 1

See identical proteins and their annotated locations for NP_082559.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC156940, AC160562

Consensus CDS

CCDS23259.1

UniProtKB/Swiss-Prot

Q69ZG3, Q7TN77, Q8BJC8, Q8CGB3

UniProtKB/TrEMBL

A0A0R4J0S7

Related

ENSMUSP00000062047.7, ENSMUST00000050183.7

Conserved Domains (6) summary

PTZ00322
Location:186 → 267

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

PHA03095
Location:50 → 218

PHA03095; ankyrin-like protein; Provisional

TIGR02168
Location:487 → 1310

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:295 → 657

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

sd00045
Location:136 → 166

ANK; ANK repeat [structural motif]

pfam14362
Location:1278 → 1379

DUF4407; Domain of unknown function (DUF4407)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

60700488..60787713

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313609.1 → XP_017169098.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X1

UniProtKB/Swiss-Prot

Q69ZG3, Q7TN77, Q8BJC8, Q8CGB3

UniProtKB/TrEMBL

A0A0R4J0S7

Conserved Domains (6) summary

PTZ00322
Location:186 → 267

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

PHA03095
Location:50 → 218

PHA03095; ankyrin-like protein; Provisional

TIGR02168
Location:487 → 1310

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:295 → 657

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

sd00045
Location:136 → 166

ANK; ANK repeat [structural motif]

pfam14362
Location:1278 → 1379

DUF4407; Domain of unknown function (DUF4407)
XM_006511483.5 → XP_006511546.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X4

UniProtKB/Swiss-Prot

Q69ZG3, Q7TN77, Q8BJC8, Q8CGB3

Conserved Domains (6) summary

PTZ00322
Location:146 → 227

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

PHA03095
Location:10 → 178

PHA03095; ankyrin-like protein; Provisional

TIGR02168
Location:447 → 1270

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:255 → 617

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

sd00045
Location:96 → 126

ANK; ANK repeat [structural motif]

pfam14362
Location:1238 → 1339

DUF4407; Domain of unknown function (DUF4407)
XM_006511482.5 → XP_006511545.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X2

UniProtKB/Swiss-Prot

Q69ZG3, Q7TN77, Q8BJC8, Q8CGB3

Conserved Domains (6) summary

PTZ00322
Location:171 → 252

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

PHA03095
Location:35 → 203

PHA03095; ankyrin-like protein; Provisional

TIGR02168
Location:472 → 1295

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:280 → 642

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

sd00045
Location:121 → 151

ANK; ANK repeat [structural motif]

pfam14362
Location:1263 → 1364

DUF4407; Domain of unknown function (DUF4407)
XM_030244634.2 → XP_030100494.1 uveal autoantigen with coiled-coil domains and ankyrin repeats isoform X3

UniProtKB/Swiss-Prot

Q69ZG3, Q7TN77, Q8BJC8, Q8CGB3

Conserved Domains (6) summary

PTZ00322
Location:171 → 239

PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional

PHA03095
Location:35 → 203

PHA03095; ankyrin-like protein; Provisional

TIGR02168
Location:470 → 1293

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:278 → 640

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

sd00045
Location:121 → 151

ANK; ANK repeat [structural motif]

pfam14362
Location:1261 → 1362

DUF4407; Domain of unknown function (DUF4407)