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Entry version 122 (10 Apr 2019)
Sequence version 2 (17 Oct 2006)
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Protein

Single-strand selective monofunctional uracil DNA glycosylase

Gene

SMUG1

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

Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward mismatches (U/G) compared to matches (U/A). Excises uracil (U), 5-formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] in ssDNA and dsDNA, but not analogous cytosine derivatives (5-hydroxycytosine and 5-formylcytosine), nor other oxidized bases. The activity is damage-specific and salt-dependent. The substrate preference is the following: ssDNA > dsDNA (G pair) = dsDNA (A pair) at low salt concentration, and dsDNA (G pair) > dsDNA (A pair) > ssDNA at high salt concentration.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei84Substrate; via amide nitrogenBy similarity1
Binding sitei98Substrate; via amide nitrogen1
Binding sitei163Substrate1
Binding sitei239Substrate1

<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

Molecular functionDNA-binding, Hydrolase
Biological processDNA damage, DNA repair

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.2.2.27 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-110328 Recognition and association of DNA glycosylase with site containing an affected pyrimidine
R-HSA-110329 Cleavage of the damaged pyrimidine
R-HSA-110357 Displacement of DNA glycosylase by APEX1

<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:
Single-strand selective monofunctional uracil DNA glycosylase (EC:3.2.2.-)
<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:SMUG1
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000123415.15

Human Gene Nomenclature Database

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HGNCi
HGNC:17148 SMUG1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607753 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q53HV7

<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

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi85N → A: Markedly impaired damage-excising activity for U/G, hoU/G, hmU/A and fU/A. No cytosine-excising activity for C/G, C/A, C/T and C/C. 1 Publication1
Mutagenesisi87G → A or S: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi87G → F: Loss of damage-excising activity. 1 Publication1
Mutagenesisi89F → A, G or S: No effect on damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi90G → A: Loss of damage-excising activity for U/G. Weak, but significant activity toward hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi91M → A: No effect on damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi98F → L: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1
Mutagenesisi163N → D: Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. No cytosine-excising activity for C/G, C/A, C/T and C/C. hoC-excising activity for hoC/A, hoC/T and hoC/C. 1 Publication1
Mutagenesisi239H → L or N: Markedly impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
23583

Open Targets

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OpenTargetsi
ENSG00000123415

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142670895

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SMUG1

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000719921 – 270Single-strand selective monofunctional uracil DNA glycosylaseAdd BLAST270

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q53HV7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q53HV7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q53HV7

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

More...
PaxDbi
Q53HV7

PeptideAtlas

More...
PeptideAtlasi
Q53HV7

PRoteomics IDEntifications database

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PRIDEi
Q53HV7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
62508
62509 [Q53HV7-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q53HV7-2 [Q53HV7-2]

PTM databases

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

More...
PhosphoSitePlusi
Q53HV7

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000123415 Expressed in 170 organ(s), highest expression level in body of stomach

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q53HV7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q53HV7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051149
HPA071486

<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%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
117118, 9 interactors

Protein interaction database and analysis system

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IntActi
Q53HV7, 39 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000424191

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q53HV7

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

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SMRi
Q53HV7

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

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>Regioni173 – 187DNA bindingBy similarityAdd BLAST15

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFBA Eukaryota
ENOG410XQUR LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000004897

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000220288

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG084399

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q53HV7

KEGG Orthology (KO)

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KOi
K10800

Identification of Orthologs from Complete Genome Data

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OMAi
FFRHCFV

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q53HV7

TreeFam database of animal gene trees

More...
TreeFami
TF324356

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.470.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR039134 SMUG1
IPR036895 Uracil-DNA_glycosylase-like_sf

The PANTHER Classification System

More...
PANTHERi
PTHR13235 PTHR13235, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52141 SSF52141, 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.

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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q53HV7-1) [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
MPQAFLLGSI HEPAGALMEP QPCPGSLAES FLEEELRLNA ELSQLQFSEP
60 70 80 90 100
VGIIYNPVEY AWEPHRNYVT RYCQGPKEVL FLGMNPGPFG MAQTGVPFGE
110 120 130 140 150
VSMVRDWLGI VGPVLTPPQE HPKRPVLGLE CPQSEVSGAR FWGFFRNLCG
160 170 180 190 200
QPEVFFHHCF VHNLCPLLFL APSGRNLTPA ELPAKQREQL LGICDAALCR
210 220 230 240 250
QVQLLGVRLV VGVGRLAEQR ARRALAGLMP EVQVEGLLHP SPRNPQANKG
260 270
WEAVAKERLN ELGLLPLLLK
Length:270
Mass (Da):29,862
Last modified:October 17, 2006 - 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:i2AB18F6F757F6DD7
GO
Isoform 2 (identifier: Q53HV7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     136-177: VSGARFWGFF...LFLAPSGRNL → GPRQSMGHEI...VRRPGFSSQL
     178-270: Missing.

Note: No experimental confirmation available.
Show »
Length:177
Mass (Da):19,627
Checksum:i9525274EE6797F61
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RI04D6RI04_HUMAN
Single-strand selective monofunctio...
SMUG1
159Annotation 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>
D6RA78D6RA78_HUMAN
Single-strand selective monofunctio...
SMUG1
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>
D6RA25D6RA25_HUMAN
Single-strand selective monofunctio...
SMUG1
108Annotation 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>
H0YA95H0YA95_HUMAN
Single-strand selective monofunctio...
SMUG1
143Annotation 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>
D6RAI1D6RAI1_HUMAN
Single-strand selective monofunctio...
SMUG1
126Annotation 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>
D6RAS0D6RAS0_HUMAN
Single-strand selective monofunctio...
SMUG1
95Annotation 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>
D6RIA4D6RIA4_HUMAN
Single-strand selective monofunctio...
SMUG1
90Annotation 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>
D6RD88D6RD88_HUMAN
Single-strand selective monofunctio...
SMUG1
82Annotation 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>
A0A0U1RRE6A0A0U1RRE6_HUMAN
Single-strand selective monofunctio...
SMUG1
161Annotation 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>

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 conflicti30S → G AA sequence (PubMed:11526119).Curated1
Sequence conflicti48S → L in BAC03670 (PubMed:14702039).Curated1
Sequence conflicti50P → I AA sequence (PubMed:11526119).Curated1
Sequence conflicti54I → V AA sequence (PubMed:11526119).Curated1
Sequence conflicti66 – 174Missing in BAC03670 (PubMed:14702039).CuratedAdd BLAST109
Sequence conflicti70T → I in BAD96193 (Ref. 4) Curated1
Sequence conflicti103M → V AA sequence (PubMed:11526119).Curated1
Sequence conflicti157H → R AA sequence (PubMed:11526119).Curated1
Sequence conflicti193I → V AA sequence (PubMed:11526119).Curated1
Sequence conflicti227G → S AA sequence (PubMed:11526119).Curated1
Sequence conflicti259 – 260LN → NL AA sequence (PubMed:11526119).Curated2
Sequence conflicti269 – 270LK → TS AA sequence (PubMed:11526119).Curated2

Natural variant

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_02324315G → V1 PublicationCorresponds to variant dbSNP:rs2233920Ensembl.1
Natural variantiVAR_023244105R → W1 PublicationCorresponds to variant dbSNP:rs3136389Ensembl.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_015150136 – 177VSGAR…SGRNL → GPRQSMGHEIKSELLMGGCS WIRGKIQCDRVQVRRPGFSS QL in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_015151178 – 270Missing in isoform 2. 1 PublicationAdd BLAST93

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
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
AF125182 mRNA Translation: AAD17301.1
AK001235 mRNA Translation: BAA91571.1
AK091468 mRNA Translation: BAC03670.1
AK222473 mRNA Translation: BAD96193.1
AK290274 mRNA Translation: BAF82963.1
AF489699 Genomic DNA Translation: AAL86910.1
CH471054 Genomic DNA Translation: EAW96752.1
CH471054 Genomic DNA Translation: EAW96756.1
BC000417 mRNA Translation: AAH00417.1
BC088352 mRNA Translation: AAH88352.1
BC105607 mRNA Translation: AAI05608.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS58239.1 [Q53HV7-2]
CCDS8874.1 [Q53HV7-1]

NCBI Reference Sequences

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RefSeqi
NP_001230716.1, NM_001243787.1 [Q53HV7-1]
NP_001230717.1, NM_001243788.1 [Q53HV7-1]
NP_001230718.1, NM_001243789.1 [Q53HV7-2]
NP_001230719.1, NM_001243790.1 [Q53HV7-2]
NP_001230720.1, NM_001243791.1 [Q53HV7-2]
NP_055126.1, NM_014311.2 [Q53HV7-1]
XP_006719382.1, XM_006719319.3 [Q53HV7-1]
XP_006719383.1, XM_006719320.3
XP_006719384.1, XM_006719321.3
XP_006719385.1, XM_006719322.3
XP_011536411.1, XM_011538109.2
XP_011536412.1, XM_011538110.2
XP_011536413.1, XM_011538111.2
XP_011536414.1, XM_011538112.2 [Q53HV7-1]
XP_011536415.1, XM_011538113.2
XP_011536416.1, XM_011538114.2
XP_011536417.1, XM_011538115.2
XP_011536418.1, XM_011538116.2 [Q53HV7-1]
XP_011536419.1, XM_011538117.2
XP_011536420.1, XM_011538118.2 [Q53HV7-1]
XP_011536421.1, XM_011538119.2 [Q53HV7-1]
XP_011536422.1, XM_011538120.2
XP_011536423.1, XM_011538121.2 [Q53HV7-1]
XP_011536424.1, XM_011538122.2
XP_016874602.1, XM_017019113.1
XP_016874603.1, XM_017019114.1
XP_016874604.1, XM_017019115.1
XP_016874605.1, XM_017019116.1
XP_016874606.1, XM_017019117.1
XP_016874607.1, XM_017019118.1
XP_016874608.1, XM_017019119.1 [Q53HV7-2]
XP_016874609.1, XM_017019120.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.632721
Hs.731659

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000243112; ENSP00000243112; ENSG00000123415 [Q53HV7-2]
ENST00000337581; ENSP00000338606; ENSG00000123415 [Q53HV7-1]
ENST00000401977; ENSP00000384828; ENSG00000123415 [Q53HV7-1]
ENST00000506595; ENSP00000421206; ENSG00000123415 [Q53HV7-2]
ENST00000508394; ENSP00000424191; ENSG00000123415 [Q53HV7-1]
ENST00000513838; ENSP00000423629; ENSG00000123415 [Q53HV7-2]
ENST00000514685; ENSP00000421139; ENSG00000123415 [Q53HV7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23583

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23583

UCSC genome browser

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UCSCi
uc001sfb.5 human [Q53HV7-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF125182 mRNA Translation: AAD17301.1
AK001235 mRNA Translation: BAA91571.1
AK091468 mRNA Translation: BAC03670.1
AK222473 mRNA Translation: BAD96193.1
AK290274 mRNA Translation: BAF82963.1
AF489699 Genomic DNA Translation: AAL86910.1
CH471054 Genomic DNA Translation: EAW96752.1
CH471054 Genomic DNA Translation: EAW96756.1
BC000417 mRNA Translation: AAH00417.1
BC088352 mRNA Translation: AAH88352.1
BC105607 mRNA Translation: AAI05608.1
CCDSiCCDS58239.1 [Q53HV7-2]
CCDS8874.1 [Q53HV7-1]
RefSeqiNP_001230716.1, NM_001243787.1 [Q53HV7-1]
NP_001230717.1, NM_001243788.1 [Q53HV7-1]
NP_001230718.1, NM_001243789.1 [Q53HV7-2]
NP_001230719.1, NM_001243790.1 [Q53HV7-2]
NP_001230720.1, NM_001243791.1 [Q53HV7-2]
NP_055126.1, NM_014311.2 [Q53HV7-1]
XP_006719382.1, XM_006719319.3 [Q53HV7-1]
XP_006719383.1, XM_006719320.3
XP_006719384.1, XM_006719321.3
XP_006719385.1, XM_006719322.3
XP_011536411.1, XM_011538109.2
XP_011536412.1, XM_011538110.2
XP_011536413.1, XM_011538111.2
XP_011536414.1, XM_011538112.2 [Q53HV7-1]
XP_011536415.1, XM_011538113.2
XP_011536416.1, XM_011538114.2
XP_011536417.1, XM_011538115.2
XP_011536418.1, XM_011538116.2 [Q53HV7-1]
XP_011536419.1, XM_011538117.2
XP_011536420.1, XM_011538118.2 [Q53HV7-1]
XP_011536421.1, XM_011538119.2 [Q53HV7-1]
XP_011536422.1, XM_011538120.2
XP_011536423.1, XM_011538121.2 [Q53HV7-1]
XP_011536424.1, XM_011538122.2
XP_016874602.1, XM_017019113.1
XP_016874603.1, XM_017019114.1
XP_016874604.1, XM_017019115.1
XP_016874605.1, XM_017019116.1
XP_016874606.1, XM_017019117.1
XP_016874607.1, XM_017019118.1
XP_016874608.1, XM_017019119.1 [Q53HV7-2]
XP_016874609.1, XM_017019120.1
UniGeneiHs.632721
Hs.731659

3D structure databases

ProteinModelPortaliQ53HV7
SMRiQ53HV7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117118, 9 interactors
IntActiQ53HV7, 39 interactors
STRINGi9606.ENSP00000424191

PTM databases

PhosphoSitePlusiQ53HV7

Polymorphism and mutation databases

BioMutaiSMUG1

Proteomic databases

EPDiQ53HV7
jPOSTiQ53HV7
MaxQBiQ53HV7
PaxDbiQ53HV7
PeptideAtlasiQ53HV7
PRIDEiQ53HV7
ProteomicsDBi62508
62509 [Q53HV7-2]
TopDownProteomicsiQ53HV7-2 [Q53HV7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000243112; ENSP00000243112; ENSG00000123415 [Q53HV7-2]
ENST00000337581; ENSP00000338606; ENSG00000123415 [Q53HV7-1]
ENST00000401977; ENSP00000384828; ENSG00000123415 [Q53HV7-1]
ENST00000506595; ENSP00000421206; ENSG00000123415 [Q53HV7-2]
ENST00000508394; ENSP00000424191; ENSG00000123415 [Q53HV7-1]
ENST00000513838; ENSP00000423629; ENSG00000123415 [Q53HV7-2]
ENST00000514685; ENSP00000421139; ENSG00000123415 [Q53HV7-2]
GeneIDi23583
KEGGihsa:23583
UCSCiuc001sfb.5 human [Q53HV7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23583
DisGeNETi23583
EuPathDBiHostDB:ENSG00000123415.15

GeneCards: human genes, protein and diseases

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GeneCardsi
SMUG1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0010683
HGNCiHGNC:17148 SMUG1
HPAiHPA051149
HPA071486
MIMi607753 gene
neXtProtiNX_Q53HV7
OpenTargetsiENSG00000123415
PharmGKBiPA142670895

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFBA Eukaryota
ENOG410XQUR LUCA
GeneTreeiENSGT00390000004897
HOGENOMiHOG000220288
HOVERGENiHBG084399
InParanoidiQ53HV7
KOiK10800
OMAiFFRHCFV
PhylomeDBiQ53HV7
TreeFamiTF324356

Enzyme and pathway databases

BRENDAi3.2.2.27 2681
ReactomeiR-HSA-110328 Recognition and association of DNA glycosylase with site containing an affected pyrimidine
R-HSA-110329 Cleavage of the damaged pyrimidine
R-HSA-110357 Displacement of DNA glycosylase by APEX1

Miscellaneous databases

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

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ChiTaRSi
SMUG1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SMUG1

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

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GenomeRNAii
23583

Protein Ontology

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PROi
PR:Q53HV7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123415 Expressed in 170 organ(s), highest expression level in body of stomach
ExpressionAtlasiQ53HV7 baseline and differential
GenevisibleiQ53HV7 HS

Family and domain databases

Gene3Di3.40.470.10, 1 hit
InterProiView protein in InterPro
IPR039134 SMUG1
IPR036895 Uracil-DNA_glycosylase-like_sf
PANTHERiPTHR13235 PTHR13235, 1 hit
SUPFAMiSSF52141 SSF52141, 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 nameiSMUG1_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: Q53HV7
Secondary accession number(s): A8K2K9
, O95862, Q0D2M0, Q8NB71, Q9BWC8
<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: October 17, 2006
Last modified: April 10, 2019
This is version 122 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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