UBQLN1 ubiquilin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBQLN1provided by HGNC
Official Full Name: ubiquilin 1provided by HGNC
Primary source: HGNC:HGNC:12508
See related: Ensembl:ENSG00000135018 MIM:605046; AllianceGenome:HGNC:12508
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: DA41; DSK2; UBQN; XDRP1; PLIC-1
Summary: This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 34.9), bone marrow (RPKM 27.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.32; 9q21.2-q21.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (83659968..83707958, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (95809692..95857669, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (86274883..86322873, complement)

Chromosome 9 - NC_000009.12 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: HPA RNA-seq normal tissues 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?

UBQLN1 links proteostasis and mitochondria function to telomere maintenance in human embryonic stem cells.
Title: UBQLN1 links proteostasis and mitochondria function to telomere maintenance in human embryonic stem cells.
UBQLN1 deficiency mediates telomere shortening and IPF through interacting with RPA1.
Title: UBQLN1 deficiency mediates telomere shortening and IPF through interacting with RPA1.
Towards a molecular understanding of the overlapping and distinct roles of UBQLN1 and UBQLN2 in lung cancer progression and metastasis.
Title: Towards a molecular understanding of the overlapping and distinct roles of UBQLN1 and UBQLN2 in lung cancer progression and metastasis.
UBQLN1 mediates sorafenib resistance through regulating mitochondrial biogenesis and ROS homeostasis by targeting PGC1beta in hepatocellular carcinoma.
Title: UBQLN1 mediates sorafenib resistance through regulating mitochondrial biogenesis and ROS homeostasis by targeting PGC1β in hepatocellular carcinoma.
The role of frontotemporal dementia associated genes in patients with Alzheimer's disease.
Title: The role of frontotemporal dementia associated genes in patients with Alzheimer's disease.
CircUBQLN1 Promotes Proliferation but Inhibits Apoptosis and Oxidative Stress of Hippocampal Neurons in Epilepsy via the miR-155-Mediated SOX7 Upregulation.
Title: CircUBQLN1 Promotes Proliferation but Inhibits Apoptosis and Oxidative Stress of Hippocampal Neurons in Epilepsy via the miR-155-Mediated SOX7 Upregulation.
Ubiquilin 1 suppresses the cancer stem cell-like traits of non-small cell lung cancer cells by regulating reactive oxygen species homeostasis.
Title: Ubiquilin 1 suppresses the cancer stem cell-like traits of non-small cell lung cancer cells by regulating reactive oxygen species homeostasis.
finding suggests that there is a dynamic interplay between RRM2 and the NS5B-hPLIC1 complex that has an important function in HCV replication. Together, these results identify a role of host RRM2 in viral RNA replication.
Title: Ribonucleotide reductase M2 promotes RNA replication of hepatitis C virus by protecting NS5B protein from hPLIC1-dependent proteasomal degradation.
The genome of Drosophila contains a single UBQLN homolog (dUbqn) that shows high similarity to UBQLN1 and UBQLN2; therefore, the fly is a useful model for characterizing the role of UBQLN in vivo in neurological disorders affecting locomotion and learning abilities.
Title: A new Drosophila model of Ubiquilin knockdown shows the effect of impaired proteostasis on locomotive and learning abilities.
Thus, UBQLN1 plays an important role in clearing mislocalized mitochondrial proteins upon cell stimulation, and its absence leads to suppression of protein synthesis and cell cycle arrest.
Title: Ubiquilin1 promotes antigen-receptor mediated proliferation by eliminating mislocalized mitochondrial proteins.

Submit: New GeneRIF Correction See all GeneRIFs (62)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-21584 (e-PCR)
- UniSTS:46665

RH94362 (e-PCR)
- UniSTS:89472

RH91462 (e-PCR)
- UniSTS:25017

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables polyubiquitin modification-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in aggresome	IDA Inferred from Direct Assay more info	PubMed
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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of proteasome complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: ubiquilin-1

Names: DSK2 homolog; hPLIC-1; protein linking IAP with cytoskeleton 1; testicular tissue protein Li 219

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_011519.1 RefSeqGene

Range

5296..53286

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_013438.5 → NP_038466.2 ubiquilin-1 isoform 1

See identical proteins and their annotated locations for NP_038466.2

Status: REVIEWED

Description

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

Source sequence(s)

AK074535, AL136643, BC039294, DA317805

Consensus CDS

CCDS6663.1

UniProtKB/Swiss-Prot

A0A024R284, Q5T6J5, Q5T6J9, Q8IXS9, Q8N2Q3, Q9H0T8, Q9H3R4, Q9HAZ5, Q9UMX0

UniProtKB/TrEMBL

B3KNI2, B3KNI8

Related

ENSP00000365576.4, ENST00000376395.9

Conserved Domains (4) summary

smart00727
Location:390 → 422

STI1; Heat shock chaperonin-binding motif

cd01808
Location:37 → 107

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

smart00213
Location:37 → 107

UBQ; Ubiquitin homologues

cd14399
Location:546 → 585

UBA_PLICs; UBA domain of eukaryotic protein linking integrin-associated protein (IAP, also known as CD47) with cytoskeleton (PLIC) proteins
NM_053067.3 → NP_444295.1 ubiquilin-1 isoform 2

See identical proteins and their annotated locations for NP_444295.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) is missing an alternate 3' coding exon, compared to transcript variant 1. The resulting protein (isoform 2) is 28 aa shorter when compared to isoform 1.

Source sequence(s)

BC010066, BC039294, DA317805

Consensus CDS

CCDS6664.1

UniProtKB/TrEMBL

B3KNI2, B3KNI8

Related

ENSP00000257468.7, ENST00000257468.11

Conserved Domains (4) summary

smart00727
Location:182 → 219

STI1; Heat shock chaperonin-binding motif

cd01808
Location:37 → 107

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

smart00213
Location:37 → 107

UBQ; Ubiquitin homologues

cd14399
Location:518 → 557

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

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

83659968..83707958 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005251948.4 → XP_005252005.1 ubiquilin-1 isoform X1

Conserved Domains (3) summary

smart00727
Location:182 → 219

STI1; Heat shock chaperonin-binding motif

cd01808
Location:37 → 107

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

smart00213
Location:37 → 107

UBQ; Ubiquitin homologues