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Protein

Ubiquilin-2

Gene

UBQLN2

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

Plays an important role in the regulation of different protein degradation mechanisms and pathways including ubiquitin-proteasome system (UPS), autophagy and the endoplasmic reticulum-associated protein degradation (ERAD) pathway. Mediates the proteasomal targeting of misfolded or accumulated proteins for degradation by binding (via UBA domain) to their polyubiquitin chains and by interacting (via ubiquitin-like domain) with the subunits of the proteasome (PubMed:10983987). Plays a role in the ERAD pathway via its interaction with ER-localized proteins FAF2/UBXD8 and HERPUD1 and may form a link between the polyubiquitinated ERAD substrates and the proteasome (PubMed:24215460, PubMed:18307982). Involved in the regulation of macroautophagy and autophagosome formation; required for maturation of autophagy-related protein LC3 from the cytosolic form LC3-I to the membrane-bound form LC3-II and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:19148225, PubMed:20529957). Negatively regulates the endocytosis of GPCR receptors: AVPR2 and ADRB2, by specifically reducing the rate at which receptor-arrestin complexes concentrate in clathrin-coated pits (CCPs) (PubMed:18199683).6 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 - 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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q9UHD9 Predicted

<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_and_taxonomy_section">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-2
Alternative name(s):
Chap1
DSK2 homolog
Protein linking IAP with cytoskeleton 2
Short name:
PLIC-2
Short name:
hPLIC-2
Ubiquitin-like product Chap1/Dsk2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:UBQLN2
Synonyms:N4BP4, PLIC2
ORF Names:HRIHFB2157
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000188021.8

Human Gene Nomenclature Database

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HGNCi
HGNC:12509 UBQLN2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300264 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9UHD9

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Membrane, 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 15, with or without frontotemporal dementia (ALS15)6 Publications
The disease is caused by mutations 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. Patients with ALS15 may develop frontotemporal dementia.
See also OMIM:300857
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_068892155S → N in ALS15; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs374522677Ensembl.1
Natural variantiVAR_068893189P → T in ALS15; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1490021329Ensembl.1
Natural variantiVAR_068895283A → T in ALS15. 1 PublicationCorresponds to variant dbSNP:rs749463696Ensembl.1
Natural variantiVAR_068896425Q → R in ALS15. 1 PublicationCorresponds to variant dbSNP:rs1243726473Ensembl.1
Natural variantiVAR_068897487T → I in ALS15. 1 Publication1
Natural variantiVAR_066562497P → H in ALS15; leads to defective ubiquitin-mediated proteasomal degradation; reduces binding to HNRNPA1 and FAF2; increases translocation of HNRNPA1 to the cytoplasm; adversely affects ERAD. 3 PublicationsCorresponds to variant dbSNP:rs387906709EnsemblClinVar.1
Natural variantiVAR_066563497P → S in ALS15; reduces binding to HNRNPA1; increases translocation of HNRNPA1 to the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs387906710EnsemblClinVar.1
Natural variantiVAR_066564506P → T in ALS15; leads to defective ubiquitin-mediated proteasomal degradation; reduces binding to HNRNPA1; increases translocation of HNRNPA1 to the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs387906711EnsemblClinVar.1
Natural variantiVAR_066565509P → S in ALS15; reduces binding to HNRNPA1; increases translocation of HNRNPA1 to the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs387906712EnsemblClinVar.1
Natural variantiVAR_066566525P → S in ALS15; reduces binding to HNRNPA1; increases translocation of HNRNPA1 to the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs369947678EnsemblClinVar.1

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

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DisGeNETi
29978

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
UBQLN2

MalaCards human disease database

More...
MalaCardsi
UBQLN2
MIMi300857 phenotype

Open Targets

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OpenTargetsi
ENSG00000188021

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
803 Amyotrophic lateral sclerosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA37156

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
UBQLN2

Domain mapping of disease mutations (DMDM)

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DMDMi
124056593

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002110112 – 624Ubiquilin-2Add BLAST623

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei2N-acetylalanineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Degraded during macroautophagy.1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UHD9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9UHD9

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

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PaxDbi
Q9UHD9

PeptideAtlas

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PeptideAtlasi
Q9UHD9

PRoteomics IDEntifications database

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PRIDEi
Q9UHD9

ProteomicsDB human proteome resource

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ProteomicsDBi
84333

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UHD9

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

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PhosphoSitePlusi
Q9UHD9

<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 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

Highly expressed in mitotic cells from metaphase to telophase. Expression in non-mitotic cells is very low.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000188021 Expressed in 245 organ(s), highest expression level in cerebellar vermis

CleanEx database of gene expression profiles

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CleanExi
HS_UBQLN2

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UHD9 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB013481
HPA006431

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Forms heterodimer with UBQLN1. Binds UBE3A and BTRC. Interacts with the 19S proteasome subunit. Interacts with C9orf72. Interacts with HNRNPA1 and HNRNPU. Found in a complex with UBQLN1 and MAP1LC3A/B/C. Interacts with EPS15, EPN1 and EPN2. Interacts with HERPUD1. Interacts with RAD23A. Interacts with TARDBP. Interacts (via C-terminus) with FAF2 (via N-terminus). Interacts with UBQLN4. Binds CD47 (By similarity).By similarity12 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119006, 89 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UHD9

Database of interacting proteins

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DIPi
DIP-42116N

Protein interaction database and analysis system

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IntActi
Q9UHD9, 252 interactors

Molecular INTeraction database

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MINTi
Q9UHD9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000345195

<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

Secondary structure

1624
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9UHD9

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

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SMRi
Q9UHD9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9UHD9

<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_and_domains_section">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>Domaini33 – 107Ubiquitin-likePROSITE-ProRule annotationAdd BLAST75
Domaini178 – 206STI1 1Sequence analysisAdd BLAST29
Domaini208 – 247STI1 2Sequence analysisAdd BLAST40
Domaini379 – 426STI1 3Sequence analysisAdd BLAST48
Domaini430 – 462STI1 4Sequence analysisAdd BLAST33
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati491 – 49313
Repeati494 – 49623
Repeati497 – 49933
Repeati500 – 50243
Repeati503 – 50553
Repeati506 – 50863
Repeati509 – 51173
Repeati512 – 51483
Repeati515 – 51793
Repeati518 – 520103
Repeati521 – 523113
Repeati524 – 526123
Domaini581 – 621UBAPROSITE-ProRule annotationAdd BLAST41

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni491 – 52612 X 3 AA tandem repeats of P-X-XAdd BLAST36

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The ubiquitin-like domain is essential for its inhibitory effect on GPCR endocytosis. Mediates its association with the subunits of the proteasome.1 Publication1 Publication
The UBA domain is essential for its association with microtubule-associated protein 1 light chain 3 (MAP1LC3). Mediates its association with ubiquitinated substrates.1 Publication1 Publication
Dimerization is dependent upon the central region of the protein containing the STI1 domains and is independent of its ubiquitin-like and UBA domains.1 Publication

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0010 Eukaryota
COG5272 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162603

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234878

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG064537

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UHD9

KEGG Orthology (KO)

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KOi
K04523

Identification of Orthologs from Complete Genome Data

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OMAi
PQQGTEN

Database of Orthologous Groups

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OrthoDBi
EOG091G08WB

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UHD9

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
IPR016024 ARM-type_fold
IPR006636 STI1_HS-bd
IPR015940 UBA
IPR009060 UBA-like_sf
IPR015496 Ubiquilin
IPR028430 Ubiquilin-2
IPR029071 Ubiquitin-like_domsf
IPR000626 Ubiquitin_dom

The PANTHER Classification System

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PANTHERi
PTHR10677 PTHR10677, 1 hit
PTHR10677:SF5 PTHR10677:SF5, 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

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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
SSF48371 SSF48371, 1 hit
SSF54236 SSF54236, 1 hit

PROSITE; a protein domain and family database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

Q9UHD9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAENGESSGP PRPSRGPAAA QGSAAAPAEP KIIKVTVKTP KEKEEFAVPE
60 70 80 90 100
NSSVQQFKEA ISKRFKSQTD QLVLIFAGKI LKDQDTLIQH GIHDGLTVHL
110 120 130 140 150
VIKSQNRPQG QSTQPSNAAG TNTTSASTPR SNSTPISTNS NPFGLGSLGG
160 170 180 190 200
LAGLSSLGLS STNFSELQSQ MQQQLMASPE MMIQIMENPF VQSMLSNPDL
210 220 230 240 250
MRQLIMANPQ MQQLIQRNPE ISHLLNNPDI MRQTLEIARN PAMMQEMMRN
260 270 280 290 300
QDLALSNLES IPGGYNALRR MYTDIQEPML NAAQEQFGGN PFASVGSSSS
310 320 330 340 350
SGEGTQPSRT ENRDPLPNPW APPPATQSSA TTSTTTSTGS GSGNSSSNAT
360 370 380 390 400
GNTVAAANYV ASIFSTPGMQ SLLQQITENP QLIQNMLSAP YMRSMMQSLS
410 420 430 440 450
QNPDLAAQMM LNSPLFTANP QLQEQMRPQL PAFLQQMQNP DTLSAMSNPR
460 470 480 490 500
AMQALMQIQQ GLQTLATEAP GLIPSFTPGV GVGVLGTAIG PVGPVTPIGP
510 520 530 540 550
IGPIVPFTPI GPIGPIGPTG PAAPPGSTGS GGPTGPTVSS AAPSETTSPT
560 570 580 590 600
SESGPNQQFI QQMVQALAGA NAPQLPNPEV RFQQQLEQLN AMGFLNREAN
610 620
LQALIATGGD INAAIERLLG SQPS
Length:624
Mass (Da):65,696
Last modified:January 23, 2007 - 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:iDF7DF8C4D7B71AC3
GO

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 conflicti544S → R in AAF17237 (PubMed:10675567).Curated1
Sequence conflicti544S → R in BAA34801 (PubMed:9853615).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068892155S → N in ALS15; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs374522677Ensembl.1
Natural variantiVAR_068893189P → T in ALS15; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1490021329Ensembl.1
Natural variantiVAR_052680235L → H. Corresponds to variant dbSNP:rs17002693Ensembl.1
Natural variantiVAR_068894282A → V Probable disease-associated mutation found in a patient with frontotemporal dementia. 1 PublicationCorresponds to variant dbSNP:rs1001930696Ensembl.1
Natural variantiVAR_068895283A → T in ALS15. 1 PublicationCorresponds to variant dbSNP:rs749463696Ensembl.1
Natural variantiVAR_068896425Q → R in ALS15. 1 PublicationCorresponds to variant dbSNP:rs1243726473Ensembl.1
Natural variantiVAR_068897487T → I in ALS15. 1 Publication1
Natural variantiVAR_066562497P → H in ALS15; leads to defective ubiquitin-mediated proteasomal degradation; reduces binding to HNRNPA1 and FAF2; increases translocation of HNRNPA1 to the cytoplasm; adversely affects ERAD. 3 PublicationsCorresponds to variant dbSNP:rs387906709EnsemblClinVar.1
Natural variantiVAR_066563497P → S in ALS15; reduces binding to HNRNPA1; increases translocation of HNRNPA1 to the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs387906710EnsemblClinVar.1
Natural variantiVAR_066564506P → T in ALS15; leads to defective ubiquitin-mediated proteasomal degradation; reduces binding to HNRNPA1; increases translocation of HNRNPA1 to the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs387906711EnsemblClinVar.1
Natural variantiVAR_066565509P → S in ALS15; reduces binding to HNRNPA1; increases translocation of HNRNPA1 to the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs387906712EnsemblClinVar.1
Natural variantiVAR_066566525P → S in ALS15; reduces binding to HNRNPA1; increases translocation of HNRNPA1 to the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs369947678EnsemblClinVar.1

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

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DDBJi
Links Updated
AF189009 mRNA Translation: AAF17237.1
AF293385 mRNA Translation: AAG02474.1
AL354793 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93233.1
BC069237 mRNA Translation: AAH69237.1
AL442081 mRNA Translation: CAC09446.1
AB015344 mRNA Translation: BAA34801.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14374.1

NCBI Reference Sequences

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RefSeqi
NP_038472.2, NM_013444.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.179309

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000338222; ENSP00000345195; ENSG00000188021

Database of genes from NCBI RefSeq genomes

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GeneIDi
29978

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:29978

UCSC genome browser

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UCSCi
uc004dus.4 human

Keywords - Coding sequence diversityi

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
AF189009 mRNA Translation: AAF17237.1
AF293385 mRNA Translation: AAG02474.1
AL354793 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93233.1
BC069237 mRNA Translation: AAH69237.1
AL442081 mRNA Translation: CAC09446.1
AB015344 mRNA Translation: BAA34801.1
CCDSiCCDS14374.1
RefSeqiNP_038472.2, NM_013444.3
UniGeneiHs.179309

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1J8CNMR-A1-103[»]
2NBVNMR-B26-103[»]
ProteinModelPortaliQ9UHD9
SMRiQ9UHD9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119006, 89 interactors
CORUMiQ9UHD9
DIPiDIP-42116N
IntActiQ9UHD9, 252 interactors
MINTiQ9UHD9
STRINGi9606.ENSP00000345195

Protein family/group databases

MoonDBiQ9UHD9 Predicted

PTM databases

iPTMnetiQ9UHD9
PhosphoSitePlusiQ9UHD9

Polymorphism and mutation databases

BioMutaiUBQLN2
DMDMi124056593

Proteomic databases

EPDiQ9UHD9
MaxQBiQ9UHD9
PaxDbiQ9UHD9
PeptideAtlasiQ9UHD9
PRIDEiQ9UHD9
ProteomicsDBi84333

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338222; ENSP00000345195; ENSG00000188021
GeneIDi29978
KEGGihsa:29978
UCSCiuc004dus.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
29978
DisGeNETi29978
EuPathDBiHostDB:ENSG00000188021.8

GeneCards: human genes, protein and diseases

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GeneCardsi
UBQLN2
GeneReviewsiUBQLN2
HGNCiHGNC:12509 UBQLN2
HPAiCAB013481
HPA006431
MalaCardsiUBQLN2
MIMi300264 gene
300857 phenotype
neXtProtiNX_Q9UHD9
OpenTargetsiENSG00000188021
Orphaneti803 Amyotrophic lateral sclerosis
PharmGKBiPA37156

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0010 Eukaryota
COG5272 LUCA
GeneTreeiENSGT00940000162603
HOGENOMiHOG000234878
HOVERGENiHBG064537
InParanoidiQ9UHD9
KOiK04523
OMAiPQQGTEN
OrthoDBiEOG091G08WB
PhylomeDBiQ9UHD9
TreeFamiTF314412

Enzyme and pathway databases

ReactomeiR-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis

Miscellaneous databases

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

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ChiTaRSi
UBQLN2 human
EvolutionaryTraceiQ9UHD9

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
UBQLN2

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

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GenomeRNAii
29978

Protein Ontology

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PROi
PR:Q9UHD9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000188021 Expressed in 245 organ(s), highest expression level in cerebellar vermis
CleanExiHS_UBQLN2
GenevisibleiQ9UHD9 HS

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR006636 STI1_HS-bd
IPR015940 UBA
IPR009060 UBA-like_sf
IPR015496 Ubiquilin
IPR028430 Ubiquilin-2
IPR029071 Ubiquitin-like_domsf
IPR000626 Ubiquitin_dom
PANTHERiPTHR10677 PTHR10677, 1 hit
PTHR10677:SF5 PTHR10677:SF5, 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
SSF48371 SSF48371, 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

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ProtoNeti
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 nameiUBQL2_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: Q9UHD9
Secondary accession number(s): O94798
, Q5D027, Q9H3W6, Q9HAZ4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: January 23, 2007
Last modified: December 5, 2018
This is version 163 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

3D-structure, Complete proteome, Reference proteome

Documents

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