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Protein

E3 ubiquitin-protein ligase UBR1

Gene

UBR1

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

E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.27

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri97 – 168UBR-typePROSITE-ProRule annotationAdd BLAST72
Zinc fingeri1098 – 1201RING-type; atypicalAdd BLAST104

<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

  • leucine binding Source: UniProtKB
  • ubiquitin protein ligase activity Source: GO_Central
  • zinc ion binding Source: InterPro

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

Molecular functionTransferase
Biological processUbl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000159459-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.4.17.20 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

SIGNOR Signaling Network Open Resource

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SIGNORi
Q8IWV7

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<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:
E3 ubiquitin-protein ligase UBR1 (EC:2.3.2.27)
Alternative name(s):
N-recognin-1
RING-type E3 ubiquitin transferase UBR1
Ubiquitin-protein ligase E3-alpha-1
Ubiquitin-protein ligase E3-alpha-I
<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:UBR1
<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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000159459.11

Human Gene Nomenclature Database

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HGNCi
HGNC:16808 UBR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605981 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IWV7

<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

<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

Johanson-Blizzard syndrome (JBS)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThis disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis.
See also OMIM:243800
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_075179122V → L in JBS; decreased, but detectable activity in a yeast-based assay. 2 Publications1
Natural variantiVAR_075180127C → F in JBS. 1 Publication1
Natural variantiVAR_024741136H → R in JBS; prevents proper folding of the UBR-type zinc finger; may decrease protein stability; loss of activity in a yeast-based assay. 4 PublicationsCorresponds to variant dbSNP:rs119477054EnsemblClinVar.1
Natural variantiVAR_075181166H → R in JBS. 1 Publication1
Natural variantiVAR_075182217L → R in JBS. 1 Publication1
Natural variantiVAR_075183286I → R in JBS. 1 Publication1
Natural variantiVAR_075184317L → P in JBS. 1 Publication1
Natural variantiVAR_075185389 – 392Missing in JBS. 1 Publication4
Natural variantiVAR_075186427L → R in JBS; unknown pathological significance. 1 Publication1
Natural variantiVAR_075187563A → D in JBS. 1 PublicationCorresponds to variant dbSNP:rs768686147EnsemblClinVar.1
Natural variantiVAR_075188660Missing in JBS. 1 Publication1
Natural variantiVAR_075189700S → P in JBS. 2 Publications1
Natural variantiVAR_075190754R → C in JBS. 1 Publication1
Natural variantiVAR_075191754R → H in JBS. 1 Publication1
Natural variantiVAR_0751921102Q → E in JBS; strong decrease in activity in a yeast-based assay. 2 Publications1
Natural variantiVAR_0751931242R → G in JBS. 1 Publication1
Natural variantiVAR_0247421279G → S in JBS. 2 Publications1
Natural variantiVAR_0751941426P → L in JBS. 1 Publication1
Natural variantiVAR_0751951427S → F in JBS. 1 Publication1
Natural variantiVAR_0751961431S → P in JBS. 1 PublicationCorresponds to variant dbSNP:rs140972409Ensembl.1
Natural variantiVAR_0751971661G → R in JBS. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
197131

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

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GeneReviewsi
UBR1

MalaCards human disease database

More...
MalaCardsi
UBR1
MIMi243800 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000159459

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

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Orphaneti
2315 Johanson-Blizzard syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA38187

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
UBR1

Domain mapping of disease mutations (DMDM)

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DMDMi
73622071

<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_00000561362 – 1749E3 ubiquitin-protein ligase UBR1Add BLAST1748

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
Modified residuei21PhosphothreonineCombined sources1
Modified residuei1179PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IWV7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8IWV7

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

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PaxDbi
Q8IWV7

PeptideAtlas

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PeptideAtlasi
Q8IWV7

PRoteomics IDEntifications database

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PRIDEi
Q8IWV7

ProteomicsDB human proteome resource

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ProteomicsDBi
70907
70908 [Q8IWV7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8IWV7

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

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PhosphoSitePlusi
Q8IWV7

<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

Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level).3 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000159459 Expressed in 211 organ(s), highest expression level in epithelial cell of pancreas

CleanEx database of gene expression profiles

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CleanExi
HS_UBR1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IWV7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IWV7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038838

<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

Interacts with RECQL4.2 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

WithEntry#Exp.IntActNotes
UBE2BP631462EBI-711736,EBI-712629

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
128238, 104 interactors

Database of interacting proteins

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DIPi
DIP-47033N

Protein interaction database and analysis system

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IntActi
Q8IWV7, 32 interactors

Molecular INTeraction database

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MINTi
Q8IWV7

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000290650

<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

11749
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
Q8IWV7

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

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SMRi
Q8IWV7

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

More...
EvolutionaryTracei
Q8IWV7

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi864 – 869Poly-Pro6

<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 RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the classical motif.
The UBR-type zinc finger forms a pocket that mediates recognition of type 1 N-degrons. It exhibits preference for Arginine in first position, has poor affinity for histidine, and doesn't bind acetylated peptides.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the UBR1 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri97 – 168UBR-typePROSITE-ProRule annotationAdd BLAST72
Zinc fingeri1098 – 1201RING-type; atypicalAdd BLAST104

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1140 Eukaryota
ENOG410XPQU LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153755

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080426

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IWV7

KEGG Orthology (KO)

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KOi
K10625

Identification of Orthologs from Complete Genome Data

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OMAi
HAKGENP

Database of Orthologous Groups

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OrthoDBi
EOG091G009K

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IWV7

TreeFam database of animal gene trees

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TreeFami
TF323875

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.1390.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003769 ClpS_core
IPR014719 Ribosomal_L7/12_C/ClpS-like
IPR039164 UBR1-like
IPR036390 WH_DNA-bd_sf
IPR003126 Znf_UBR

The PANTHER Classification System

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PANTHERi
PTHR21497 PTHR21497, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02617 ClpS, 1 hit
PF02207 zf-UBR, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00396 ZnF_UBR1, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46785 SSF46785, 1 hit
SSF54736 SSF54736, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51157 ZF_UBR, 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>Sequences (2+)i

<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.

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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IWV7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MADEEAGGTE RMEISAELPQ TPQRLASWWD QQVDFYTAFL HHLAQLVPEI
60 70 80 90 100
YFAEMDPDLE KQEESVQMSI FTPLEWYLFG EDPDICLEKL KHSGAFQLCG
110 120 130 140 150
RVFKSGETTY SCRDCAIDPT CVLCMDCFQD SVHKNHRYKM HTSTGGGFCD
160 170 180 190 200
CGDTEAWKTG PFCVNHEPGR AGTIKENSRC PLNEEVIVQA RKIFPSVIKY
210 220 230 240 250
VVEMTIWEEE KELPPELQIR EKNERYYCVL FNDEHHSYDH VIYSLQRALD
260 270 280 290 300
CELAEAQLHT TAIDKEGRRA VKAGAYAACQ EAKEDIKSHS ENVSQHPLHV
310 320 330 340 350
EVLHSEIMAH QKFALRLGSW MNKIMSYSSD FRQIFCQACL REEPDSENPC
360 370 380 390 400
LISRLMLWDA KLYKGARKIL HELIFSSFFM EMEYKKLFAM EFVKYYKQLQ
410 420 430 440 450
KEYISDDHDR SISITALSVQ MFTVPTLARH LIEEQNVISV ITETLLEVLP
460 470 480 490 500
EYLDRNNKFN FQGYSQDKLG RVYAVICDLK YILISKPTIW TERLRMQFLE
510 520 530 540 550
GFRSFLKILT CMQGMEEIRR QVGQHIEVDP DWEAAIAIQM QLKNILLMFQ
560 570 580 590 600
EWCACDEELL LVAYKECHKA VMRCSTSFIS SSKTVVQSCG HSLETKSYRV
610 620 630 640 650
SEDLVSIHLP LSRTLAGLHV RLSRLGAVSR LHEFVSFEDF QVEVLVEYPL
660 670 680 690 700
RCLVLVAQVV AEMWRRNGLS LISQVFYYQD VKCREEMYDK DIIMLQIGAS
710 720 730 740 750
LMDPNKFLLL VLQRYELAEA FNKTISTKDQ DLIKQYNTLI EEMLQVLIYI
760 770 780 790 800
VGERYVPGVG NVTKEEVTMR EIIHLLCIEP MPHSAIAKNL PENENNETGL
810 820 830 840 850
ENVINKVATF KKPGVSGHGV YELKDESLKD FNMYFYHYSK TQHSKAEHMQ
860 870 880 890 900
KKRRKQENKD EALPPPPPPE FCPAFSKVIN LLNCDIMMYI LRTVFERAID
910 920 930 940 950
TDSNLWTEGM LQMAFHILAL GLLEEKQQLQ KAPEEEVTFD FYHKASRLGS
960 970 980 990 1000
SAMNIQMLLE KLKGIPQLEG QKDMITWILQ MFDTVKRLRE KSCLIVATTS
1010 1020 1030 1040 1050
GSESIKNDEI THDKEKAERK RKAEAARLHR QKIMAQMSAL QKNFIETHKL
1060 1070 1080 1090 1100
MYDNTSEMPG KEDSIMEEES TPAVSDYSRI ALGPKRGPSV TEKEVLTCIL
1110 1120 1130 1140 1150
CQEEQEVKIE NNAMVLSACV QKSTALTQHR GKPIELSGEA LDPLFMDPDL
1160 1170 1180 1190 1200
AYGTYTGSCG HVMHAVCWQK YFEAVQLSSQ QRIHVDLFDL ESGEYLCPLC
1210 1220 1230 1240 1250
KSLCNTVIPI IPLQPQKINS ENADALAQLL TLARWIQTVL ARISGYNIRH
1260 1270 1280 1290 1300
AKGENPIPIF FNQGMGDSTL EFHSILSFGV ESSIKYSNSI KEMVILFATT
1310 1320 1330 1340 1350
IYRIGLKVPP DERDPRVPML TWSTCAFTIQ AIENLLGDEG KPLFGALQNR
1360 1370 1380 1390 1400
QHNGLKALMQ FAVAQRITCP QVLIQKHLVR LLSVVLPNIK SEDTPCLLSI
1410 1420 1430 1440 1450
DLFHVLVGAV LAFPSLYWDD PVDLQPSSVS SSYNHLYLFH LITMAHMLQI
1460 1470 1480 1490 1500
LLTVDTGLPL AQVQEDSEEA HSASSFFAEI SQYTSGSIGC DIPGWYLWVS
1510 1520 1530 1540 1550
LKNGITPYLR CAALFFHYLL GVTPPEELHT NSAEGEYSAL CSYLSLPTNL
1560 1570 1580 1590 1600
FLLFQEYWDT VRPLLQRWCA DPALLNCLKQ KNTVVRYPRK RNSLIELPDD
1610 1620 1630 1640 1650
YSCLLNQASH FRCPRSADDE RKHPVLCLFC GAILCSQNIC CQEIVNGEEV
1660 1670 1680 1690 1700
GACIFHALHC GAGVCIFLKI RECRVVLVEG KARGCAYPAP YLDEYGETDP
1710 1720 1730 1740
GLKRGNPLHL SRERYRKLHL VWQQHCIIEE IARSQETNQM LFGFNWQLL
Length:1,749
Mass (Da):200,211
Last modified:March 1, 2003 - v1
<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:i3AE0E1A749884971
GO
Isoform 2 (identifier: Q8IWV7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     795-803: NNETGLENV → TRCIRPWSL
     804-1749: Missing.

Note: No experimental confirmation available.
Show »
Length:803
Mass (Da):93,184
Checksum:i8E6D0EAA152D2906
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WTJ9A0A087WTJ9_HUMAN
E3 ubiquitin-protein ligase UBR1
UBR1
1,070Annotation score:

Annotation score:1 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>
H3BUZ4H3BUZ4_HUMAN
E3 ubiquitin-protein ligase UBR1
UBR1
71Annotation score:

Annotation score:1 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>
H3BQF8H3BQF8_HUMAN
E3 ubiquitin-protein ligase UBR1
UBR1
72Annotation score:

Annotation score:1 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>
H3BUC4H3BUC4_HUMAN
E3 ubiquitin-protein ligase UBR1
UBR1
172Annotation score:

Annotation score:1 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>
A0A0C4DGM0A0A0C4DGM0_HUMAN
E3 ubiquitin-protein ligase UBR1
UBR1
148Annotation score:

Annotation score:1 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>
H3BNQ6H3BNQ6_HUMAN
E3 ubiquitin-protein ligase UBR1
UBR1
62Annotation score:

Annotation score:1 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>
H3BS20H3BS20_HUMAN
E3 ubiquitin-protein ligase UBR1
UBR1
31Annotation score:

Annotation score:1 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>

<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 BAB55380 differs from that shown. Reason: Erroneous initiation.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 conflicti201V → A (PubMed:14702039).Curated1
Sequence conflicti900D → N in AAC39845 (PubMed:9653112).Curated1
Sequence conflicti973D → T in AAO14997 (PubMed:12434312).Curated1
Sequence conflicti993C → S in AAC23677 (PubMed:9653112).Curated1
Sequence conflicti1710 – 1719LSRERYRKLH → FLVSGTEAP (PubMed:12434312).Curated10
Sequence conflicti1722W → R (PubMed:12434312).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075179122V → L in JBS; decreased, but detectable activity in a yeast-based assay. 2 Publications1
Natural variantiVAR_075180127C → F in JBS. 1 Publication1
Natural variantiVAR_024741136H → R in JBS; prevents proper folding of the UBR-type zinc finger; may decrease protein stability; loss of activity in a yeast-based assay. 4 PublicationsCorresponds to variant dbSNP:rs119477054EnsemblClinVar.1
Natural variantiVAR_075181166H → R in JBS. 1 Publication1
Natural variantiVAR_075182217L → R in JBS. 1 Publication1
Natural variantiVAR_075183286I → R in JBS. 1 Publication1
Natural variantiVAR_075184317L → P in JBS. 1 Publication1
Natural variantiVAR_075185389 – 392Missing in JBS. 1 Publication4
Natural variantiVAR_075186427L → R in JBS; unknown pathological significance. 1 Publication1
Natural variantiVAR_075187563A → D in JBS. 1 PublicationCorresponds to variant dbSNP:rs768686147EnsemblClinVar.1
Natural variantiVAR_034467596K → M. Corresponds to variant dbSNP:rs34568456Ensembl.1
Natural variantiVAR_075188660Missing in JBS. 1 Publication1
Natural variantiVAR_075189700S → P in JBS. 2 Publications1
Natural variantiVAR_075190754R → C in JBS. 1 Publication1
Natural variantiVAR_075191754R → H in JBS. 1 Publication1
Natural variantiVAR_052116899I → V. Corresponds to variant dbSNP:rs35069201EnsemblClinVar.1
Natural variantiVAR_0751921102Q → E in JBS; strong decrease in activity in a yeast-based assay. 2 Publications1
Natural variantiVAR_0751931242R → G in JBS. 1 Publication1
Natural variantiVAR_0247421279G → S in JBS. 2 Publications1
Natural variantiVAR_0751941426P → L in JBS. 1 Publication1
Natural variantiVAR_0751951427S → F in JBS. 1 Publication1
Natural variantiVAR_0751961431S → P in JBS. 1 PublicationCorresponds to variant dbSNP:rs140972409Ensembl.1
Natural variantiVAR_0618221548T → A. Corresponds to variant dbSNP:rs3917223EnsemblClinVar.1
Natural variantiVAR_0751971661G → R in JBS. 1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_015164795 – 803NNETGLENV → TRCIRPWSL in isoform 2. 1 Publication9
Alternative sequenceiVSP_015165804 – 1749Missing in isoform 2. 1 PublicationAdd BLAST946

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY061886 mRNA Translation: AAL32103.1
BC113505 mRNA Translation: AAI13506.1
BC113507 mRNA Translation: AAI13508.1
AF525401 mRNA Translation: AAO14997.1
AK027803 mRNA Translation: BAB55380.1 Different initiation.
CR749326 mRNA Translation: CAH18181.1
AF061556 mRNA Translation: AAC39845.1
AH006181 Genomic DNA Translation: AAC23677.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10091.1 [Q8IWV7-1]

NCBI Reference Sequences

More...
RefSeqi
NP_777576.1, NM_174916.2 [Q8IWV7-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.591121

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000290650; ENSP00000290650; ENSG00000159459 [Q8IWV7-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
197131

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:197131

UCSC genome browser

More...
UCSCi
uc001zqq.4 human [Q8IWV7-1]

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
AY061886 mRNA Translation: AAL32103.1
BC113505 mRNA Translation: AAI13506.1
BC113507 mRNA Translation: AAI13508.1
AF525401 mRNA Translation: AAO14997.1
AK027803 mRNA Translation: BAB55380.1 Different initiation.
CR749326 mRNA Translation: CAH18181.1
AF061556 mRNA Translation: AAC39845.1
AH006181 Genomic DNA Translation: AAC23677.1
CCDSiCCDS10091.1 [Q8IWV7-1]
RefSeqiNP_777576.1, NM_174916.2 [Q8IWV7-1]
UniGeneiHs.591121

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3NY1X-ray2.08A/B97-168[»]
5TDCX-ray1.61A/C98-168[»]
ProteinModelPortaliQ8IWV7
SMRiQ8IWV7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128238, 104 interactors
DIPiDIP-47033N
IntActiQ8IWV7, 32 interactors
MINTiQ8IWV7
STRINGi9606.ENSP00000290650

PTM databases

iPTMnetiQ8IWV7
PhosphoSitePlusiQ8IWV7

Polymorphism and mutation databases

BioMutaiUBR1
DMDMi73622071

Proteomic databases

EPDiQ8IWV7
MaxQBiQ8IWV7
PaxDbiQ8IWV7
PeptideAtlasiQ8IWV7
PRIDEiQ8IWV7
ProteomicsDBi70907
70908 [Q8IWV7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290650; ENSP00000290650; ENSG00000159459 [Q8IWV7-1]
GeneIDi197131
KEGGihsa:197131
UCSCiuc001zqq.4 human [Q8IWV7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
197131
DisGeNETi197131
EuPathDBiHostDB:ENSG00000159459.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
UBR1
GeneReviewsiUBR1
HGNCiHGNC:16808 UBR1
HPAiHPA038838
MalaCardsiUBR1
MIMi243800 phenotype
605981 gene
neXtProtiNX_Q8IWV7
OpenTargetsiENSG00000159459
Orphaneti2315 Johanson-Blizzard syndrome
PharmGKBiPA38187

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1140 Eukaryota
ENOG410XPQU LUCA
GeneTreeiENSGT00940000153755
HOVERGENiHBG080426
InParanoidiQ8IWV7
KOiK10625
OMAiHAKGENP
OrthoDBiEOG091G009K
PhylomeDBiQ8IWV7
TreeFamiTF323875

Enzyme and pathway databases

UniPathwayi
UPA00143

BioCyciMetaCyc:ENSG00000159459-MONOMER
BRENDAi3.4.17.20 2681
ReactomeiR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SIGNORiQ8IWV7

Miscellaneous databases

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

More...
ChiTaRSi
UBR1 human
EvolutionaryTraceiQ8IWV7

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
UBR1

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

More...
GenomeRNAii
197131

Protein Ontology

More...
PROi
PR:Q8IWV7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000159459 Expressed in 211 organ(s), highest expression level in epithelial cell of pancreas
CleanExiHS_UBR1
ExpressionAtlasiQ8IWV7 baseline and differential
GenevisibleiQ8IWV7 HS

Family and domain databases

Gene3Di3.30.1390.10, 1 hit
InterProiView protein in InterPro
IPR003769 ClpS_core
IPR014719 Ribosomal_L7/12_C/ClpS-like
IPR039164 UBR1-like
IPR036390 WH_DNA-bd_sf
IPR003126 Znf_UBR
PANTHERiPTHR21497 PTHR21497, 1 hit
PfamiView protein in Pfam
PF02617 ClpS, 1 hit
PF02207 zf-UBR, 1 hit
SMARTiView protein in SMART
SM00396 ZnF_UBR1, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF54736 SSF54736, 1 hit
PROSITEiView protein in PROSITE
PS51157 ZF_UBR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiUBR1_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: Q8IWV7
Secondary accession number(s): O60708
, O75492, Q14D45, Q68DN9, Q8IWY6, Q96JY4
<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: August 16, 2005
Last sequence update: March 1, 2003
Last modified: December 5, 2018
This is version 141 of the entry and version 1 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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