UBQLN1 - ubiquilin 1 Gene

Homo sapiens

Also known as DA41; DSK2; UBQN; XDRP1; PLIC-1

Gene ID: 29979 | Gene type: protein coding

About UBQLN1

Cytogenetic location: 9q21.32 Genomic coordinates (GRCh38): 9:83,659,968-83,707,958 (from NCBI)

This gene has 6 transcripts (splice variants), 181 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 34.9), bone marrow (RPKM 27.8) and 25 other tissues.

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]

UBQLN1 Products(2)

mRNA	Protein	Name
NM_013438.5	NP_038466.2	ubiquilin-1 isoform 1
NM_053067.3	NP_444295.1	ubiquilin-1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables kinase binding	IPI IPI: Inferred from physical interaction	11853878	GOA
enables polyubiquitin modification-dependent protein binding	IDA IDA: Inferred from direct assay	15147878	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11076969	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	19822669	GOA
involved in aggrephagy	IDA IDA: Inferred from direct assay	21143716	GOA
involved in autophagosome assembly	IMP IMP: Inferred from mutant phenotype	20529957	GOA
involved in autophagosome maturation	IMP IMP: Inferred from mutant phenotype	23459205	GOA
involved in cellular response to hypoxia	IMP IMP: Inferred from mutant phenotype	12095988	GOA
involved in macroautophagy	IMP IMP: Inferred from mutant phenotype	20529957	GOA
involved in negative regulation of store-operated calcium channel activity	IMP IMP: Inferred from mutant phenotype	23307288	GOA
involved in positive regulation of ERAD pathway	IMP IMP: Inferred from mutant phenotype	18307982	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	23307288	GOA
involved in regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	12095988	GOA
involved in regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	12634373	GOA
involved in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	12095988	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in aggresome	IDA IDA: Inferred from direct assay	16159959	GOA
located in autophagosome	IDA IDA: Inferred from direct assay	20529957	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11853878	GOA
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	12634373	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12095988	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	12095988	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21143716	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

UBQLN1 Protein Structure

ubiquitin

UBA

0
100
200
300
400
500
589 a.a.

Protein Preferred Names

Protein Names

ubiquilin-1

hPLIC-1

Related Diseases

Diseases

Alias

Brown-Vialetto-Van Laere Syndrome

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1	Frontotemporal Dementia And/Or Motor Neuron Disease
Ftdmnd	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
Alsftd	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1	Frontotemporal Dementia With Motor Neuron Disease
Ftdals	Ftd-Als
Ftd-Mnd	Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
Frontotemporal Lobar Degeneration	Grn-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS15383	UBQLN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UBQLN1	MGD	MGI:1860276
Rattus norvegicus	UBQLN1	RGD	RGD:620745
Felis catus	UBQLN1	VGNC	VGNC:66781
Bos taurus	UBQLN1	VGNC	VGNC:36613
Canis familiaris	UBQLN1	VGNC	VGNC:48084

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