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Entry version 172 (07 Oct 2020)
Sequence version 2 (15 Mar 2004)
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Protein

Ubiquilin-4

Gene

UBQLN4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regulator of protein degradation that mediates the proteasomal targeting of misfolded, mislocalized or accumulated proteins (PubMed:15280365, PubMed:27113755, PubMed:29666234, PubMed:30612738). Acts by binding polyubiquitin chains of target proteins via its UBA domain and by interacting with subunits of the proteasome via its ubiquitin-like domain (PubMed:15280365, PubMed:27113755, PubMed:30612738). Key regulator of DNA repair that represses homologous recombination repair: in response to DNA damage, recruited to sites of DNA damage following phosphorylation by ATM and acts by binding and removing ubiquitinated MRE11 from damaged chromatin, leading to MRE11 degradation by the proteasome (PubMed:30612738). MRE11 degradation prevents homologous recombination repair, redirecting double-strand break repair toward non-homologous end joining (NHEJ) (PubMed:30612738). Specifically recognizes and binds mislocalized transmembrane-containing proteins and targets them to proteasomal degradation (PubMed:27113755). Collaborates with DESI1/POST in the export of ubiquitinated proteins from the nucleus to the cytoplasm (PubMed:29666234). Also plays a role in the regulation of the proteasomal degradation of non-ubiquitinated GJA1 (By similarity). Acts as an adapter protein that recruits UBQLN1 to the autophagy machinery (PubMed:23459205). Mediates the association of UBQLN1 with autophagosomes and the autophagy-related protein LC3 (MAP1LC3A/B/C) and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:23459205).By similarity5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAutophagy, DNA damage, DNA repair

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9NRR5

Protein family/group databases

Transport Classification Database

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TCDBi
8.A.52.1.1, the ubiquitin-related protein degradation (upd) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ubiquilin-4Curated
Alternative name(s):
Ataxin-1 interacting ubiquitin-like protein1 Publication
Short name:
A1Up1 Publication
Ataxin-1 ubiquitin-like-interacting protein A1U
Connexin43-interacting protein of 75 kDaBy similarity
Short name:
CIP75By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UBQLN41 PublicationImported
Synonyms:C1orf6Imported, CIP75By similarity, UBIN1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000160803.7

Human Gene Nomenclature Database

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HGNCi
HGNC:1237, UBQLN4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605440, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NRR5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Amyotrophic lateral sclerosis (ALS)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08142790D → A in ALS; impaired proteasome efficiency leading to accumulation of CTNNB1. 1 PublicationCorresponds to variant dbSNP:rs1465567777Ensembl.1
Defects in UBQLN4 are the cause of the UBQLN4 deficiency syndrome (UBDS) (PubMed:30612738). Patients display intellectual impairment, growth retardation, microcephaly, facial dysmorphism, hearing loss, ataxia and anemia (PubMed:30612738). Cells display genomic instability characterized by hypersensitivity to genotoxic agents, leading to enhanced apoptotic cell death in response to DNA damage (PubMed:30612738).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi55I → A: Loss of interaction with UBQLN1. 1
Mutagenesisi318S → A: Abolishes phosphorylation by ATM in response to DNA damage and impaired ability to regulate DNA repair. 1 Publication1

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
56893

MalaCards human disease database

More...
MalaCardsi
UBQLN4
MIMi105400, phenotype

Open Targets

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OpenTargetsi
ENSG00000160803

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25619

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9NRR5, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
UBQLN4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
45476982

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002110151 – 601Ubiquilin-4Add BLAST601

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki23Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki62Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei98PhosphoserineCombined sources1
Modified residuei144Phosphoserine1 Publication1
Modified residuei287PhosphothreonineCombined sources1
Modified residuei318Phosphoserine; by ATM1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by ATM at Ser-318 in response to DNA damage, leading to localization in the nucleus and recruitment to sites of DNA damage.1 Publication
Ubiquitinated; this does not lead to proteasomal degradation (PubMed:15280365). May undergo both 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:15280365).1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NRR5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NRR5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NRR5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NRR5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9NRR5

PeptideAtlas

More...
PeptideAtlasi
Q9NRR5

PRoteomics IDEntifications database

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PRIDEi
Q9NRR5

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
82412 [Q9NRR5-1]
82413 [Q9NRR5-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q9NRR5-2 [Q9NRR5-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q9NRR5, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NRR5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9NRR5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in pancreas, kidney, skeletal muscle, heart and throughout the brain, and at lower levels in placenta, lung and liver.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in aggressive tumors: expression is significantly increased in stage 3 and 4 neuroblastomas, compared to stage 1 disease.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000160803, Expressed in prefrontal cortex and 207 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NRR5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000160803, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer (PubMed:15280365, PubMed:30612738). Binds signal sequences of proteins that are targeted to the endoplasmic reticulum (By similarity).

Interacts (via UBA domain) with GJA1 (not ubiquitinated) and with ubiquitin; both compete for the same binding site (By similarity).

Interacts (via UBA domain) with ubiquitin and with polyubiquitin chains (By similarity).

Interacts (via ubiquitin-like domain) with PSMD2 and PSMD4, regulatory subunits of the 26S proteasome (PubMed:15280365).

Interacts with ATXN1/SCA1; interaction with ATXN1 inhibits polyubiquitination of UBQLN4 and interferes with PSMD4 binding (PubMed:11001934, PubMed:15280365).

Interacts with HERPUD1 (PubMed:18307982).

Interacts (via ubiquitin-like domain) with UBQLN1 (via UBA domain) (PubMed:23459205).

Interacts with UBQLN2 (PubMed:23459205).

Interacts (via STI1 1 and 2 domains) with MAP1LC3A/B/C (PubMed:23459205).

Interacts with BAG6 (PubMed:27113755).

Interacts with MRE11 (when ubiquitinated); interaction with ubiquitinated MRE11 leads to MRE11 removal from chromatin (PubMed:30612738).

Interacts with DESI1/POST; leading to nuclear export (PubMed:29666234).

By similarity7 Publications

(Microbial infection) Interacts with Mumps virus protein SH.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121223, 225 interactors

Protein interaction database and analysis system

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IntActi
Q9NRR5, 163 interactors

Molecular INTeraction database

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MINTi
Q9NRR5

STRING: functional protein association networks

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STRINGi
9606.ENSP00000357292

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9NRR5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Biological Magnetic Resonance Data Bank

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BMRBi
Q9NRR5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9NRR5

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini13 – 87Ubiquitin-likePROSITE-ProRule annotationAdd BLAST75
Domaini192 – 229STI1 1Sequence analysisAdd BLAST38
Domaini230 – 261STI1 2Sequence analysisAdd BLAST32
Domaini393 – 440STI1 3Sequence analysisAdd BLAST48
Domaini444 – 476STI1 4Sequence analysisAdd BLAST33
Domaini553 – 598UBAPROSITE-ProRule annotationAdd BLAST46

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0010, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000155620

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_024293_4_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NRR5

KEGG Orthology (KO)

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KOi
K04523

Identification of Orthologs from Complete Genome Data

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OMAi
SIGGVKM

Database of Orthologous Groups

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OrthoDBi
1553668at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NRR5

TreeFam database of animal gene trees

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TreeFami
TF314412

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006636, STI1_HS-bd
IPR015940, UBA
IPR009060, UBA-like_sf
IPR015496, Ubiquilin
IPR000626, Ubiquitin-like_dom
IPR029071, Ubiquitin-like_domsf

The PANTHER Classification System

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PANTHERi
PTHR10677, PTHR10677, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00627, UBA, 1 hit
PF00240, ubiquitin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00727, STI1, 4 hits
SM00165, UBA, 1 hit
SM00213, UBQ, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46934, SSF46934, 1 hit
SSF54236, SSF54236, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50030, UBA, 1 hit
PS50053, UBIQUITIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NRR5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAEPSGAETR PPIRVTVKTP KDKEEIVICD RASVKEFKEE ISRRFKAQQD
60 70 80 90 100
QLVLIFAGKI LKDGDTLNQH GIKDGLTVHL VIKTPQKAQD PAAATASSPS
110 120 130 140 150
TPDPASAPST TPASPATPAQ PSTSGSASSD AGSGSRRSSG GGPSPGAGEG
160 170 180 190 200
SPSATASILS GFGGILGLGS LGLGSANFME LQQQMQRQLM SNPEMLSQIM
210 220 230 240 250
ENPLVQDMMS NPDLMRHMIM ANPQMQQLME RNPEISHMLN NPELMRQTME
260 270 280 290 300
LARNPAMMQE MMRNQDRALS NLESIPGGYN ALRRMYTDIQ EPMFSAAREQ
310 320 330 340 350
FGNNPFSSLA GNSDSSSSQP LRTENREPLP NPWSPSPPTS QAPGSGGEGT
360 370 380 390 400
GGSGTSQVHP TVSNPFGINA ASLGSGMFNS PEMQALLQQI SENPQLMQNV
410 420 430 440 450
ISAPYMRSMM QTLAQNPDFA AQMMVNVPLF AGNPQLQEQL RLQLPVFLQQ
460 470 480 490 500
MQNPESLSIL TNPRAMQALL QIQQGLQTLQ TEAPGLVPSL GSFGISRTPA
510 520 530 540 550
PSAGSNAGST PEAPTSSPAT PATSSPTGAS SAQQQLMQQM IQLLAGSGNS
560 570 580 590 600
QVQTPEVRFQ QQLEQLNSMG FINREANLQA LIATGGDINA AIERLLGSQL

S
Length:601
Mass (Da):63,853
Last modified:March 15, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE57B9FFEF90793FE
GO
Isoform 2 (identifier: Q9NRR5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-226: AATASSPSTP...HMIMANPQMQ → PPAAPSLPAA...AAQLHGLHQS
     227-601: Missing.

Show »
Length:226
Mass (Da):24,527
Checksum:i69101551F1551A93
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF19084 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH06410 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti188 – 189QL → HV in AAF80171 (PubMed:11001934).Curated2
Sequence conflicti298R → Q in AAF80171 (PubMed:11001934).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08142790D → A in ALS; impaired proteasome efficiency leading to accumulation of CTNNB1. 1 PublicationCorresponds to variant dbSNP:rs1465567777Ensembl.1
Natural variantiVAR_081428326 – 601Missing Probable disease-associated variant found in patients with UBQLN4 deficiency syndrome (UBDS). 1 PublicationAdd BLAST276
Natural variantiVAR_052685495I → M2 PublicationsCorresponds to variant dbSNP:rs2297792EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04118793 – 226AATAS…NPQMQ → PPAAPSLPAADAEPRVTLHP YQSPSHAGIAADPAGTTDLA DRGPWAGTQPWLLWDIPDPS TLSRQQRRVYARGPHFLTSH ASHIFSNRGFQRPAATHAAD DPAFGWKWKLTGADARSEIS AAAGAAQLHGLHQS in isoform 2. 1 PublicationAdd BLAST134
Alternative sequenceiVSP_041188227 – 601Missing in isoform 2. 1 PublicationAdd BLAST375

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF188240 mRNA Translation: AAF80171.1
AK098368 mRNA No translation available.
AK314413 mRNA Translation: BAG37034.1
AL355388 Genomic DNA No translation available.
BC006410 mRNA Translation: AAH06410.1 Different initiation.
BC018403 mRNA Translation: AAH18403.1
BC063841 mRNA Translation: AAH63841.1
AF113544 mRNA Translation: AAF19084.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS1127.1 [Q9NRR5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001291271.1, NM_001304342.1
NP_064516.2, NM_020131.4 [Q9NRR5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000368309; ENSP00000357292; ENSG00000160803 [Q9NRR5-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56893

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56893

UCSC genome browser

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UCSCi
uc001fna.4, human [Q9NRR5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF188240 mRNA Translation: AAF80171.1
AK098368 mRNA No translation available.
AK314413 mRNA Translation: BAG37034.1
AL355388 Genomic DNA No translation available.
BC006410 mRNA Translation: AAH06410.1 Different initiation.
BC018403 mRNA Translation: AAH18403.1
BC063841 mRNA Translation: AAH63841.1
AF113544 mRNA Translation: AAF19084.1 Different initiation.
CCDSiCCDS1127.1 [Q9NRR5-1]
RefSeqiNP_001291271.1, NM_001304342.1
NP_064516.2, NM_020131.4 [Q9NRR5-1]

3D structure databases

BMRBiQ9NRR5
SMRiQ9NRR5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121223, 225 interactors
IntActiQ9NRR5, 163 interactors
MINTiQ9NRR5
STRINGi9606.ENSP00000357292

Protein family/group databases

TCDBi8.A.52.1.1, the ubiquitin-related protein degradation (upd) family

PTM databases

GlyGeniQ9NRR5, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ9NRR5
PhosphoSitePlusiQ9NRR5

Polymorphism and mutation databases

BioMutaiUBQLN4
DMDMi45476982

Proteomic databases

EPDiQ9NRR5
jPOSTiQ9NRR5
MassIVEiQ9NRR5
MaxQBiQ9NRR5
PaxDbiQ9NRR5
PeptideAtlasiQ9NRR5
PRIDEiQ9NRR5
ProteomicsDBi82412 [Q9NRR5-1]
82413 [Q9NRR5-2]
TopDownProteomicsiQ9NRR5-2 [Q9NRR5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
34204, 103 antibodies

Genome annotation databases

EnsembliENST00000368309; ENSP00000357292; ENSG00000160803 [Q9NRR5-1]
GeneIDi56893
KEGGihsa:56893
UCSCiuc001fna.4, human [Q9NRR5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56893
DisGeNETi56893
EuPathDBiHostDB:ENSG00000160803.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
UBQLN4
HGNCiHGNC:1237, UBQLN4
HPAiENSG00000160803, Low tissue specificity
MalaCardsiUBQLN4
MIMi105400, phenotype
605440, gene
neXtProtiNX_Q9NRR5
OpenTargetsiENSG00000160803
PharmGKBiPA25619

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0010, Eukaryota
GeneTreeiENSGT00940000155620
HOGENOMiCLU_024293_4_0_1
InParanoidiQ9NRR5
KOiK04523
OMAiSIGGVKM
OrthoDBi1553668at2759
PhylomeDBiQ9NRR5
TreeFamiTF314412

Enzyme and pathway databases

PathwayCommonsiQ9NRR5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
56893, 176 hits in 855 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
UBQLN4, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
56893
PharosiQ9NRR5, Tbio

Protein Ontology

More...
PROi
PR:Q9NRR5
RNActiQ9NRR5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000160803, Expressed in prefrontal cortex and 207 other tissues
GenevisibleiQ9NRR5, HS

Family and domain databases

InterProiView protein in InterPro
IPR006636, STI1_HS-bd
IPR015940, UBA
IPR009060, UBA-like_sf
IPR015496, Ubiquilin
IPR000626, Ubiquitin-like_dom
IPR029071, Ubiquitin-like_domsf
PANTHERiPTHR10677, PTHR10677, 1 hit
PfamiView protein in Pfam
PF00627, UBA, 1 hit
PF00240, ubiquitin, 1 hit
SMARTiView protein in SMART
SM00727, STI1, 4 hits
SM00165, UBA, 1 hit
SM00213, UBQ, 1 hit
SUPFAMiSSF46934, SSF46934, 1 hit
SSF54236, SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50030, UBA, 1 hit
PS50053, UBIQUITIN_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUBQL4_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NRR5
Secondary accession number(s): A6ND44
, B2RAY7, Q5VYA0, Q5VYA1, Q9BR98, Q9UHX4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: March 15, 2004
Last modified: October 7, 2020
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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