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Entry version 180 (10 Apr 2019)
Sequence version 2 (01 May 1999)
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Protein

Endonuclease III-like protein 1

Gene

NTHL1

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

Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption.UniRule annotation17 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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

[4Fe-4S] clusterUniRule annotationNote: Binds 1 [4Fe-4S] cluster. The cluster does not appear to play a role in catalysis, but is probably involved in the proper positioning of the enzyme along the DNA strand.UniRule annotation

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

APE1 displaces NTHL1 from the N-glycosylase-generated AP site in DNA, thereby increasing the turnover of the DNA N-glycosylase activity. AP lyase activity is stimulated by YBX1.2 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=371 nM for 5-hydroxy-6-hydrothymine containing duplex oligonucleotides (N-glycosylase activity)2 Publications
  2. KM=1093 nM for 5-hydroxyuracil containing duplex oligonucleotides (N-glycosylase activity)2 Publications
  3. KM=548 nM for 5-hydroxycytosine containing duplex oligonucleotides (N-glycosylase activity)2 Publications
  4. KM=1101 nM for thymine glycol containing duplex oligonucleotides (N-glycosylase activity)2 Publications
  5. KM=718 nM for 5,6-dihydroxycytosine containing duplex oligonucleotides (N-glycosylase activity)2 Publications
  6. KM=0.05 nM for 5-hydroxycytosine-G containing duplex oligonucleotides (N-glycosylase activity)2 Publications
  7. KM=0.2 nM for 5-hydroxycytosine-A containing duplex oligonucleotides (N-glycosylase activity)2 Publications

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei220Nucleophile; for N-glycosylase activityUniRule annotation1 Publication1
    <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei239Important for catalytic activity1
    <p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi290Iron-sulfur (4Fe-4S)UniRule annotation1
    Metal bindingi297Iron-sulfur (4Fe-4S)UniRule annotation1
    Metal bindingi300Iron-sulfur (4Fe-4S)UniRule annotation1
    Metal bindingi306Iron-sulfur (4Fe-4S)UniRule annotation1

    <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 functionGlycosidase, Hydrolase, Lyase
    Biological processDNA damage, DNA repair
    Ligand4Fe-4S, Iron, Iron-sulfur, Metal-binding

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    4.2.99.18 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

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    P78549

    <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:
    Endonuclease III-like protein 1UniRule annotation (EC:3.2.2.-UniRule annotation, EC:4.2.99.18UniRule annotation)
    Short name:
    hNTH1
    Alternative name(s):
    Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyaseUniRule annotation
    Short name:
    DNA glycosylase/AP lyaseUniRule annotation
    <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:NTHL1UniRule annotation
    Synonyms:NTH1, OCTS3
    <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)Imported
    <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 16

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000065057.7

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:8028 NTHL1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    602656 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P78549

    <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

    Mitochondrion, 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

    Familial adenomatous polyposis 3 (FAP3)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.
    See also OMIM:616415

    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>Mutagenesisi40 – 42Missing : Sorted to the cytoplasm. 1 Publication3
    Mutagenesisi42R → A: Sorted to both nuclei and mitochondria. 1 Publication1
    Mutagenesisi42R → D: Sorted to the cytoplasm. 1 Publication1
    Mutagenesisi57R → A or D: Sorted to both nuclei and mitochondria. 1 Publication1
    Mutagenesisi220K → Q: Inactivates enzyme. 2 Publications1
    Mutagenesisi220K → R: 85-fold reduction in activity. Uncouples the glycosylase activity from the lyase activity. Shows glycosylase activity without any detectable AP-lyase activity during the first 10 min of the reaction. 2 Publications1

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    4913

    MalaCards human disease database

    More...
    MalaCardsi
    NTHL1
    MIMi616415 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000065057

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

    More...
    Orphaneti
    454840 NTHL1-related attenuated familial adenomatous polyposis

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA31811

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    NTHL1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    29840795

    <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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 30MitochondrionUniRule annotation1 PublicationAdd BLAST30
    <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_000010222731 – 312Endonuclease III-like protein 1Add BLAST282

    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 residuei71PhosphoserineCombined sources1
    Modified residuei73PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P78549

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P78549

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P78549

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

    More...
    PaxDbi
    P78549

    PeptideAtlas

    More...
    PeptideAtlasi
    P78549

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P78549

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    57648

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P78549

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

    More...
    PhosphoSitePlusi
    P78549

    <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

    Widely expressed with highest levels in heart and lowest levels in lung and liver.2 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

    Expression levels are regulated during the cell cycle with increased levels during early and mid S-phase.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000065057 Expressed in 173 organ(s), highest expression level in right lobe of liver

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P78549 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P78549 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    CAB025152

    <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 YBX1.UniRule annotation1 Publication

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    110968, 23 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P78549, 4 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000219066

    <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

    More...
    ProteinModelPortali
    P78549

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

    More...
    SMRi
    P78549

    Database of comparative protein structure models

    More...
    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

    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>Domaini199 – 223HhHUniRule annotationAdd BLAST25

    Motif

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi36 – 60Bipartite nuclear localization signalSequence analysisAdd BLAST25

    <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 Nth/MutY family.UniRule annotation

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1921 Eukaryota
    COG0177 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00510000047513

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000252209

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG052675

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P78549

    KEGG Orthology (KO)

    More...
    KOi
    K10773

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    WQQFTHL

    Database of Orthologous Groups

    More...
    OrthoDBi
    1322642at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P78549

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF314967

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd00056 ENDO3c, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.10.1670.10, 1 hit

    HAMAP database of protein families

    More...
    HAMAPi
    MF_03183 Endonuclease_III_Nth, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR011257 DNA_glycosylase
    IPR004036 Endonuclease-III-like_CS2
    IPR003651 Endonuclease3_FeS-loop_motif
    IPR003265 HhH-GPD_domain
    IPR000445 HhH_motif
    IPR023170 HTH_base_excis_C
    IPR030841 NTH1

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00633 HHH, 1 hit
    PF00730 HhH-GPD, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...
    SMARTi
    View protein in SMART
    SM00478 ENDO3c, 1 hit
    SM00525 FES, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF48150 SSF48150, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS01155 ENDONUCLEASE_III_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>Sequences (3+)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 3 <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 initiation. AlignAdd to basket

    This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: P78549-1) [UniParc]FASTAAdd to basket
    Also known as: M-8

    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
    MCSPQESGMT ALSARMLTRS RSLGPGAGPR GCREEPGPLR RREAAAEARK
    60 70 80 90 100
    SHSPVKRPRK AQRLRVAYEG SDSEKGEGAE PLKVPVWEPQ DWQQQLVNIR
    110 120 130 140 150
    AMRNKKDAPV DHLGTEHCYD SSAPPKVRRY QVLLSLMLSS QTKDQVTAGA
    160 170 180 190 200
    MQRLRARGLT VDSILQTDDA TLGKLIYPVG FWRSKVKYIK QTSAILQQHY
    210 220 230 240 250
    GGDIPASVAE LVALPGVGPK MAHLAMAVAW GTVSGIAVDT HVHRIANRLR
    260 270 280 290 300
    WTKKATKSPE ETRAALEEWL PRELWHEING LLVGFGQQTC LPVHPRCHAC
    310
    LNQALCPAAQ GL
    Length:312
    Mass (Da):34,390
    Last modified:May 1, 1999 - 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:i379816A1E0B45050
    GO
    Isoform 2 (identifier: P78549-2) [UniParc]FASTAAdd to basket
    Also known as: M+1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-8: Missing.

    Show »
    Length:304
    Mass (Da):33,570
    Checksum:iDA97D508BE3D83F0
    GO
    Isoform 3 (identifier: P78549-3) [UniParc]FASTAAdd to basket
    Also known as: M+8

    The sequence of this isoform differs from the canonical sequence as follows:
         1-15: Missing.

    Show »
    Length:297
    Mass (Da):32,839
    Checksum:i5D531E41F9F27975
    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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    H3BPD5H3BPD5_HUMAN
    Endonuclease III-like protein 1
    NTHL1
    236Annotation 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>
    H3BRL9H3BRL9_HUMAN
    Endonuclease III-like protein 1
    NTHL1
    218Annotation 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>
    H3BUV2H3BUV2_HUMAN
    Endonuclease III-like protein 1
    NTHL1
    100Annotation 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 conflicti9 – 10MT → TS in CAA70865 (PubMed:10882850).Curated2
    Sequence conflicti78Missing in CAA70865 (PubMed:10882850).Curated1
    Sequence conflicti151M → I in AAB41534 (PubMed:8990169).Curated1
    Sequence conflicti160T → A in AAB41534 (PubMed:8990169).Curated1

    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_01612521R → W1 PublicationCorresponds to variant dbSNP:rs3087469Ensembl.1
    Natural variantiVAR_01612633R → K. Corresponds to variant dbSNP:rs2302172Ensembl.1
    Natural variantiVAR_016127176I → T. Corresponds to variant dbSNP:rs1805378Ensembl.1
    Natural variantiVAR_029318234S → L1 PublicationCorresponds to variant dbSNP:rs3211977Ensembl.1
    Natural variantiVAR_016128239D → Y. Corresponds to variant dbSNP:rs3087468Ensembl.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_0542921 – 15Missing in isoform 3. CuratedAdd BLAST15
    Alternative sequenceiVSP_0542931 – 8Missing in isoform 2. 4 Publications8

    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
    U79718 mRNA Translation: AAB41534.1
    AB014460 Genomic DNA Translation: BAA32695.1
    AF498098 Genomic DNA Translation: AAM11786.1
    AC005600 Genomic DNA Translation: AAC34209.1
    AB001575 mRNA Translation: BAA19413.1
    U81285 mRNA Translation: AAC51136.1
    BC003014 mRNA Translation: AAH03014.1
    BC000391 mRNA Translation: AAH00391.2
    Y09687 mRNA Translation: CAA70865.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS10457.1 [P78549-2]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001305122.1, NM_001318193.1
    NP_001305123.1, NM_001318194.1
    NP_002519.1, NM_002528.6 [P78549-2]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.66196

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000219066; ENSP00000219066; ENSG00000065057 [P78549-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    4913

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:4913

    UCSC genome browser

    More...
    UCSCi
    uc002col.1 human [P78549-1]

    Keywords - Coding sequence diversityi

    Alternative initiation, 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
    U79718 mRNA Translation: AAB41534.1
    AB014460 Genomic DNA Translation: BAA32695.1
    AF498098 Genomic DNA Translation: AAM11786.1
    AC005600 Genomic DNA Translation: AAC34209.1
    AB001575 mRNA Translation: BAA19413.1
    U81285 mRNA Translation: AAC51136.1
    BC003014 mRNA Translation: AAH03014.1
    BC000391 mRNA Translation: AAH00391.2
    Y09687 mRNA Translation: CAA70865.1
    CCDSiCCDS10457.1 [P78549-2]
    RefSeqiNP_001305122.1, NM_001318193.1
    NP_001305123.1, NM_001318194.1
    NP_002519.1, NM_002528.6 [P78549-2]
    UniGeneiHs.66196

    3D structure databases

    ProteinModelPortaliP78549
    SMRiP78549
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi110968, 23 interactors
    IntActiP78549, 4 interactors
    STRINGi9606.ENSP00000219066

    PTM databases

    iPTMnetiP78549
    PhosphoSitePlusiP78549

    Polymorphism and mutation databases

    BioMutaiNTHL1
    DMDMi29840795

    Proteomic databases

    EPDiP78549
    jPOSTiP78549
    MaxQBiP78549
    PaxDbiP78549
    PeptideAtlasiP78549
    PRIDEiP78549
    ProteomicsDBi57648

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000219066; ENSP00000219066; ENSG00000065057 [P78549-1]
    GeneIDi4913
    KEGGihsa:4913
    UCSCiuc002col.1 human [P78549-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    4913
    DisGeNETi4913
    EuPathDBiHostDB:ENSG00000065057.7

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    NTHL1
    HGNCiHGNC:8028 NTHL1
    HPAiCAB025152
    MalaCardsiNTHL1
    MIMi602656 gene
    616415 phenotype
    neXtProtiNX_P78549
    OpenTargetsiENSG00000065057
    Orphaneti454840 NTHL1-related attenuated familial adenomatous polyposis
    PharmGKBiPA31811

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1921 Eukaryota
    COG0177 LUCA
    GeneTreeiENSGT00510000047513
    HOGENOMiHOG000252209
    HOVERGENiHBG052675
    InParanoidiP78549
    KOiK10773
    OMAiWQQFTHL
    OrthoDBi1322642at2759
    PhylomeDBiP78549
    TreeFamiTF314967

    Enzyme and pathway databases

    BRENDAi4.2.99.18 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
    SABIO-RKiP78549

    Miscellaneous databases

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    NTHL1

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

    More...
    GenomeRNAii
    4913

    Protein Ontology

    More...
    PROi
    PR:P78549

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000065057 Expressed in 173 organ(s), highest expression level in right lobe of liver
    ExpressionAtlasiP78549 baseline and differential
    GenevisibleiP78549 HS

    Family and domain databases

    CDDicd00056 ENDO3c, 1 hit
    Gene3Di1.10.1670.10, 1 hit
    HAMAPiMF_03183 Endonuclease_III_Nth, 1 hit
    InterProiView protein in InterPro
    IPR011257 DNA_glycosylase
    IPR004036 Endonuclease-III-like_CS2
    IPR003651 Endonuclease3_FeS-loop_motif
    IPR003265 HhH-GPD_domain
    IPR000445 HhH_motif
    IPR023170 HTH_base_excis_C
    IPR030841 NTH1
    PfamiView protein in Pfam
    PF00633 HHH, 1 hit
    PF00730 HhH-GPD, 1 hit
    SMARTiView protein in SMART
    SM00478 ENDO3c, 1 hit
    SM00525 FES, 1 hit
    SUPFAMiSSF48150 SSF48150, 1 hit
    PROSITEiView protein in PROSITE
    PS01155 ENDONUCLEASE_III_2, 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 nameiNTH_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: P78549
    Secondary accession number(s): Q1MVR1
    , Q99566, Q99794, Q9BPX2
    <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: February 28, 2003
    Last sequence update: May 1, 1999
    Last modified: April 10, 2019
    This is version 180 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 16
      Human chromosome 16: 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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