Ubqln1 ubiquilin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ubqln1provided by MGI
Official Full Name: ubiquilin 1provided by MGI
Primary source: MGI:MGI:1860276
See related: Ensembl:ENSMUSG00000005312 AllianceGenome:MGI:1860276
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: Da41; Dsk2; Plic1; Xdrp1; Plic-1; D13Ertd372e; 1110046H03Rik; 1810030E05Rik
Summary: Predicted to enable several functions, including identical protein binding activity; kinase binding activity; and polyubiquitin modification-dependent protein binding activity. Involved in negative regulation of toll-like receptor 3 signaling pathway. Located in autophagosome. Orthologous to human UBQLN1 (ubiquilin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 72.0), adrenal adult (RPKM 65.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 B1; 13 30.95 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (58323970..58363467, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (58176156..58215653, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

UBQLN1 deficiency mediates telomere shortening and IPF through interacting with RPA1.
Title: UBQLN1 deficiency mediates telomere shortening and IPF through interacting with RPA1.
Hepatocyte CD36 modulates UBQLN1-mediated proteasomal degradation of autophagic SNARE proteins contributing to septic liver injury.
Title: Hepatocyte CD36 modulates UBQLN1-mediated proteasomal degradation of autophagic SNARE proteins contributing to septic liver injury.
GABAA Receptor-Stabilizing Protein Ubqln1 Affects Hyperexcitability and Epileptogenesis after Traumatic Brain Injury and in a Model of In Vitro Epilepsy in Mice.
Title: GABA(A) Receptor-Stabilizing Protein Ubqln1 Affects Hyperexcitability and Epileptogenesis after Traumatic Brain Injury and in a Model of In Vitro Epilepsy in Mice.
miR-337-5p promotes the development of cardiac hypertrophy by targeting Ubiquilin-1 (UBQLN1).
Title: miR-337-5p promotes the development of cardiac hypertrophy by targeting Ubiquilin-1 (UBQLN1).
Overexpression of UBQLN1 reduces neuropathology in the P497S UBQLN2 mouse model of ALS/FTD.
Title: Overexpression of UBQLN1 reduces neuropathology in the P497S UBQLN2 mouse model of ALS/FTD.
The results of this study revealed that hypoxia-ischemic decreased the expression of Ubqln, thus may provide a novel understanding of role of Ubqln in neonatal hypoxic ischemic encephalopathy.
Title: Decreased expression of ubiquilin‑1 following neonatal hypoxia‑ischemic brain injury in mice.
Post-ischemic overexpression of Ubqln1 significantly promoted functional recovery.
Title: Enhanced Proteostasis in Post-ischemic Stroke Mouse Brains by Ubiquilin-1 Promotes Functional Recovery.
This study provide strong evidence showing that Ubqln1 plays a crucial role in modulating learning and memory function in different cohorts of transgenic mice.
Title: Overexpression of Ubiquilin-1 Alleviates Alzheimer's Disease-Caused Cognitive and Motor Deficits and Reduces Amyloid-β Accumulation in Mice.
Reduced body weight gain in mice, overexpressing Ubqln1 was associated with upregulation of SIRT1 and AMPK.
Title: Reduced body weight gain in ubiquilin-1 transgenic mice is associated with increased expression of energy-sensing proteins.
Results suggest that ubiquilin-1 may mechanistically participate in Alzheimer's disease molecular pathogenesis by affecting BACE1 and thereby APP processing and Abeta accumulation
Title: Relationship between ubiquilin-1 and BACE1 in human Alzheimer's disease and APdE9 transgenic mouse brain and cell-based models.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126177 (e-PCR)
- UniSTS:162886

RH136282 (e-PCR)
- UniSTS:210275

RH127089 (e-PCR)
- UniSTS:167110

AA875206 (e-PCR)
- UniSTS:261103

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables intermediate filament binding	NAS Non-traceable Author Statement more info	PubMed
enables kinase binding	ISO Inferred from Sequence Orthology more info
enables polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables polyubiquitin modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in aggrephagy	ISO Inferred from Sequence Orthology more info
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome assembly	ISO Inferred from Sequence Orthology more info
involved_in autophagosome maturation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in macroautophagy	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of store-operated calcium channel activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of toll-like receptor 3 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of macroautophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in aggresome	ISO Inferred from Sequence Orthology more info
is_active_in autophagosome	IBA Inferred from Biological aspect of Ancestor more info
located_in autophagosome	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of proteasome complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ubiquilin-1

Names: protein linking IAP with cytoskeleton 1

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_026842.4 → NP_081118.4 ubiquilin-1 isoform 1

See identical proteins and their annotated locations for NP_081118.4

Status: VALIDATED

Description

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

Source sequence(s)

AC163038, AI425982, AK049298, AK165456

Consensus CDS

CCDS49281.1

UniProtKB/Swiss-Prot

Q80V10, Q8C7T4, Q8C835, Q8K141, Q8R317, Q91VI8, Q9D0Z0, Q9QZM1

UniProtKB/TrEMBL

Q66K07

Related

ENSMUSP00000050191.6, ENSMUST00000058735.12

Conserved Domains (4) summary

smart00727
Location:384 → 416

STI1; Heat shock chaperonin-binding motif

cd14399
Location:539 → 578

UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins

cd01808
Location:26 → 98

Ubl_PLICs; ubiquitin-like (Ubl) domain found in eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins

cl17974
Location:204 → 247

STI1; STI1 domain
NM_152234.2 → NP_689420.1 ubiquilin-1 isoform 2

See identical proteins and their annotated locations for NP_689420.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC163038, AI425982, AK048534, AK165456

Consensus CDS

CCDS26569.1

UniProtKB/TrEMBL

Q3T992

Related

ENSMUSP00000075782.7, ENSMUST00000076454.8

Conserved Domains (5) summary

smart00727
Location:173 → 210

STI1; Heat shock chaperonin-binding motif

cd01808
Location:28 → 98

hPLIC_N; Ubiquitin-like domain of hPLIC-1 and hPLIC2

smart00213
Location:28 → 98

UBQ; Ubiquitin homologues

cd14399
Location:511 → 550

UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins

TIGR00601
Location:300 → 523

rad23; UV excision repair protein Rad23