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UniProtKB - Q7Z2E3 (APTX_HUMAN)

Protein

Aprataxin

Gene

APTX

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

DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567). Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity).By similarity6 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 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=18 µM for AppppA1 Publication
  2. KM=837.5 µM for AMP-NH21 Publication

    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 sitei274Tele-AMP-histidine intermediate1 Publication1

    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 fingeri331 – 353C2H2-typePROSITE-ProRule annotation2 PublicationsAdd BLAST23

    <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

    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    View the complete GO annotation on QuickGO ...

    <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
    LigandMetal-binding, Zinc

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:ENSG00000137074-MONOMER

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		Q7Z2E3

    SIGNOR Signaling Network Open Resource

    More...    SIGNORi    		Q7Z2E3

    <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:
    Aprataxin (EC:3.1.11.71 Publication3 Publications, EC:3.1.12.2By similarity)
    Alternative name(s):
    Forkhead-associated domain histidine triad-like protein
    Short name:
    FHA-HIT
    <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:APTX
    Synonyms:AXA1
    <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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <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 9

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000137074.18

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:15984 APTX

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		606350 gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q7Z2E3

    <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, 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

    Ataxia-oculomotor apraxia syndrome (AOA)8 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.
    See also OMIM:208920
    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_018794211K → Q in AOA; impairs binding to adenosine-5'-diphospho-5'-(DNA) and deadenylation activity. 2 Publications1
    Natural variantiVAR_018795212A → V in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs748165574Ensembl.1
    Natural variantiVAR_018796213R → H in AOA. 1 PublicationCorresponds to variant dbSNP:rs150886026Ensembl.1
    Natural variantiVAR_018797215H → R in AOA. 1 PublicationCorresponds to variant dbSNP:rs121908133Ensembl.1
    Natural variantiVAR_018798220P → L in AOA. 2 PublicationsCorresponds to variant dbSNP:rs121908131Ensembl.1
    Natural variantiVAR_025365237L → P in AOA. 1 PublicationCorresponds to variant dbSNP:rs267606665Ensembl.1
    Natural variantiVAR_018799277V → G in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A. 3 PublicationsCorresponds to variant dbSNP:rs121908132Ensembl.1
    Natural variantiVAR_018800281D → G in AOA; heterozygous. 1
    Natural variantiVAR_018801293W → R in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs773393618Ensembl.1

    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>Mutagenesisi43R → A: Impairs interaction with XRCC1 and XRCC4. Abolishes localization at sites of DNA double-strand breaks. Loss of interaction with MDC1. 2 Publications1
    Mutagenesisi52K → A: Impairs interaction with MDC1 and localization at sites of DNA double-strand breaks. 1 Publication1
    Mutagenesisi274H → A: Abolishes enzyme activity. 2 Publications1
    Mutagenesisi333C → A: Abolishes DNA-binding and enzyme activity; when associated with A-336. 1 Publication1
    Mutagenesisi336C → A: Abolishes DNA-binding and enzyme activity; when associated with A-333. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Neurodegeneration

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		54840

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

    More...    GeneReviewsi    		APTX

    MalaCards human disease database

    More...    MalaCardsi    		APTX
    MIMi208920 phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000137074

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

    More...    Orphaneti    		1168 Ataxia-oculomotor apraxia type 1

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA24915

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		APTX

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		48428038

    <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_00001098381 – 356AprataxinAdd BLAST356

    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 residuei132PhosphoserineCombined sources1
    Modified residuei137PhosphoserineBy similarity1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q7Z2E3

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q7Z2E3

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

    More...    PaxDbi    		Q7Z2E3

    PeptideAtlas

    More...    PeptideAtlasi    		Q7Z2E3

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q7Z2E3

    ProteomicsDB human proteome resource

    More...    ProteomicsDBi    		68945
    68946 [Q7Z2E3-10]
    68947 [Q7Z2E3-11]
    68948 [Q7Z2E3-2]
    68949 [Q7Z2E3-3]
    68950 [Q7Z2E3-4]
    68951 [Q7Z2E3-5]
    68952 [Q7Z2E3-6]
    68953 [Q7Z2E3-7]
    68954 [Q7Z2E3-8]
    68955 [Q7Z2E3-9]

    Consortium for Top Down Proteomics

    More...    TopDownProteomicsi    		Q7Z2E3-5 [Q7Z2E3-5]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q7Z2E3

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

    More...    PhosphoSitePlusi    		Q7Z2E3

    <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; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely expressed; detected throughout the brain, in liver, kidney, skeletal muscle, fibroblasts, lymphocytes and pancreas (PubMed:15276230, PubMed:11586299, PubMed:11586300).4 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000137074 Expressed in 210 organ(s), highest expression level in testis

    CleanEx database of gene expression profiles

    More...    CleanExi    		HS_APTX

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q7Z2E3 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q7Z2E3 HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		HPA064930

    <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 single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53 (PubMed:14755728, PubMed:15380105, PubMed:15044383, PubMed:16777843). Interacts with NCL (PubMed:15044383, PubMed:16777843). Interacts (via FHA-like domain) with MDC1 (phosphorylated) (PubMed:20008512).5 Publications

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <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>Sitei188Interaction with DNA substrate1 Publication1
    Sitei265Interaction with DNA substrate1 Publication1
    Sitei276Interaction with DNA substrate1 Publication1
    Sitei291Interaction with DNA substrate1 Publication1

    <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

    GO - Molecular functioni

    View the complete GO annotation on QuickGO ...

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...    BioGridi    		120191, 28 interactors

    Protein interaction database and analysis system

    More...    IntActi    		Q7Z2E3, 22 interactors

    Molecular INTeraction database

    More...    MINTi    		Q7Z2E3

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000369141

    <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

    1356
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...    ProteinModelPortali    		Q7Z2E3

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

    More...    SMRi    		Q7Z2E3

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...    EvolutionaryTracei    		Q7Z2E3

    <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>Domaini38 – 87FHA-likeAdd BLAST50
    Domaini182 – 287HITPROSITE-ProRule annotationAdd BLAST106

    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>Regioni1 – 110Interactions with ADPRT and NCLAdd BLAST110
    Regioni207 – 211Interaction with DNA substrate1 Publication5
    Regioni269 – 270Interaction with DNA substrate1 Publication2

    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>Motifi126 – 131Nuclear localization signalCurated6
    Motifi272 – 276Histidine triad motifPROSITE-ProRule annotation1 Publication5

    <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 histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.1 Publication
    The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.
    The HIT domain is required for enzymatic activity.
    The C2H2-type zinc finger mediates DNA-binding.

    Zinc finger

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Zinc fingeri331 – 353C2H2-typePROSITE-ProRule annotation2 PublicationsAdd BLAST23

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG0562 Eukaryota
    KOG2134 Eukaryota
    ENOG41102F4 LUCA

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00940000156806

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		HOG000248858

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...    HOVERGENi    		HBG050555

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q7Z2E3

    KEGG Orthology (KO)

    More...    KOi    		K10863

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		WLVRQDN

    Database of Orthologous Groups

    More...    OrthoDBi    		EOG091G0KPQ

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q7Z2E3

    TreeFam database of animal gene trees

    More...    TreeFami    		TF313308

    Family and domain databases

    Conserved Domains Database

    More...    CDDi    		cd00060 FHA, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		3.30.428.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR026963 Aprataxin
    IPR000253 FHA_dom
    IPR019808 Histidine_triad_CS
    IPR011146 HIT-like
    IPR036265 HIT-like_sf
    IPR008984 SMAD_FHA_dom_sf
    IPR032566 Znf-C2HE
    IPR013087 Znf_C2H2_type

    The PANTHER Classification System

    More...    PANTHERi    		PTHR12486:SF4 PTHR12486:SF4, 1 hit

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF16278 zf-C2HE, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF49879 SSF49879, 1 hit
    SSF54197 SSF54197, 1 hit

    PROSITE; a protein domain and family database

    More...    PROSITEi    		View protein in PROSITE
    PS00892 HIT_1, 1 hit
    PS51084 HIT_2, 1 hit
    PS00028 ZINC_FINGER_C2H2_1, 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 (13+)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 13 <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 13 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q7Z2E3-1) [UniParc]FASTAAdd to basket
    Also known as: Long1 Publication

    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
    MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT 
            60         70         80         90        100
    DKKCSRQQVQ LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV 
           110        120        130        140        150
    LHMVNELYPY IVEFEEEAKN PGLETHRKRK RSGNSDSIER DAAQEAEAGT 
           160        170        180        190        200
    GLEPGSNSGQ CSVPLKKGKD APIKKESLGH WSQGLKISMQ DPKMQVYKDE 
           210        220        230        240        250
    QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH MHTVGEKVIV 
           260        270        280        290        300
    DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY 
           310        320        330        340        350
    FLESQAVIEM VQEAGRVTVR DGMPELLKLP LRCHECQQLL PSIPQLKEHL 

    RKHWTQ
    Note: Major form.1 Publication
    Length:356
    Mass (Da):40,740
    Last modified:June 7, 2004 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5B338490E35EC8E4
    GO
    Isoform 2 (identifier: Q7Z2E3-2) [UniParc]FASTAAdd to basket
    Also known as: Short1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         1-188: Missing.

    Note: Minor form.1 Publication
    Show »
    Length:168
    Mass (Da):19,715
    Checksum:i2AF4F98B97C0A76B
    GO
    Isoform 3 (identifier: Q7Z2E3-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         104-175: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:284
    Mass (Da):32,901
    Checksum:i4213615369B997A5
    GO
    Isoform 4 (identifier: Q7Z2E3-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-102: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:254
    Mass (Da):29,108
    Checksum:iB2338C3B2822B710
    GO
    Isoform 5 (identifier: Q7Z2E3-5) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         59-112: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:288
    Mass (Da):33,125
    Checksum:iAD5D2BD20A81EBD6
    GO
    Isoform 6 (identifier: Q7Z2E3-6) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-193: Missing.
         306-356: AVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ → E

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:113
    Mass (Da):13,305
    Checksum:i5583AA4F55EDF41B
    GO
    Isoform 7 (identifier: Q7Z2E3-7) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.

    Show »
    Length:342
    Mass (Da):39,104
    Checksum:iC0D4FAEBF89ABA74
    GO
    Isoform 8 (identifier: Q7Z2E3-8) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         175-193: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:337
    Mass (Da):38,589
    Checksum:iDC2FF196087D3ADB
    GO
    Isoform 9 (identifier: Q7Z2E3-9) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         306-356: AVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ → E

    Note: No experimental confirmation available.
    Show »
    Length:292
    Mass (Da):33,294
    Checksum:i5802EE9F37B07600
    GO
    Isoform 10 (identifier: Q7Z2E3-10) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         59-112: Missing.

    Note: May be an aberrant isoform present in cancer cell lines.
    Show »
    Length:302
    Mass (Da):34,761
    Checksum:i4CAFA4C9BB2399EC
    GO
    Isoform 11 (identifier: Q7Z2E3-11) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         306-356: AVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ → E

    Note: No experimental confirmation available.
    Show »
    Length:306
    Mass (Da):34,930
    Checksum:iAC5FCCDC3642F91B
    GO
    Isoform 12 (identifier: Q7Z2E3-12) [UniParc]FASTAAdd to basket
    Also known as: LP2, LP2E5, LP2P3, LP2P3E5

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         60-63: QLKA → ESRV
         64-356: Missing.

    Show »
    Length:49
    Mass (Da):5,828
    Checksum:iF731A5E3CB6C1C8A
    GO
    Isoform 13 (identifier: Q7Z2E3-13) [UniParc]FASTAAdd to basket
    Also known as: LE5

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         196-356: VYKDEQVVVI...KEHLRKHWTQ → PCTSSCDQPGF

    Show »
    Length:192
    Mass (Da):21,389
    Checksum:i80F7BD34425AAA69
    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
    C9JZ40C9JZ40_HUMAN
    Aprataxin
    APTX
    		216Annotation score:

    Annotation score:2 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>
    C9J8U3C9J8U3_HUMAN
    Aprataxin
    APTX
    		155Annotation score:

    Annotation score:2 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>
    F8W6G5F8W6G5_HUMAN
    Aprataxin
    APTX
    		198Annotation 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>
    A0A0A0MRW7A0A0A0MRW7_HUMAN
    Aprataxin
    APTX
    		336Annotation 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>
    E7EUY4E7EUY4_HUMAN
    Aprataxin
    APTX
    		63Annotation 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>
    F8WBD6F8WBD6_HUMAN
    Aprataxin
    APTX
    		52Annotation 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>
    Q6JV79Q6JV79_HUMAN
    Aprataxin variant LP3E5
    APTX
    		85Annotation 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>
    E7EVB7E7EVB7_HUMAN
    Aprataxin
    APTX
    		99Annotation 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>
    F8WBM3F8WBM3_HUMAN
    Aprataxin
    APTX
    		74Annotation 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>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_018794211K → Q in AOA; impairs binding to adenosine-5'-diphospho-5'-(DNA) and deadenylation activity. 2 Publications1
    Natural variantiVAR_018795212A → V in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs748165574Ensembl.1
    Natural variantiVAR_018796213R → H in AOA. 1 PublicationCorresponds to variant dbSNP:rs150886026Ensembl.1
    Natural variantiVAR_018797215H → R in AOA. 1 PublicationCorresponds to variant dbSNP:rs121908133Ensembl.1
    Natural variantiVAR_018798220P → L in AOA. 2 PublicationsCorresponds to variant dbSNP:rs121908131Ensembl.1
    Natural variantiVAR_025365237L → P in AOA. 1 PublicationCorresponds to variant dbSNP:rs267606665Ensembl.1
    Natural variantiVAR_018799277V → G in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A. 3 PublicationsCorresponds to variant dbSNP:rs121908132Ensembl.1
    Natural variantiVAR_018800281D → G in AOA; heterozygous. 1
    Natural variantiVAR_018801293W → R in AOA; heterozygous. 1 PublicationCorresponds to variant dbSNP:rs773393618Ensembl.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. 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_0105341 – 193Missing in isoform 6. 1 PublicationAdd BLAST193
    Alternative sequenceiVSP_0105351 – 188Missing in isoform 2. 4 PublicationsAdd BLAST188
    Alternative sequenceiVSP_0105361 – 102Missing in isoform 4. 3 PublicationsAdd BLAST102
    Alternative sequenceiVSP_0105371 – 14Missing in isoform 5, isoform 7, isoform 9, isoform 12 and isoform 13. 5 PublicationsAdd BLAST14
    Alternative sequenceiVSP_01053859 – 112Missing in isoform 5 and isoform 10. 2 PublicationsAdd BLAST54
    Alternative sequenceiVSP_04409160 – 63QLKA → ESRV in isoform 12. 1 Publication4
    Alternative sequenceiVSP_04409264 – 356Missing in isoform 12. 1 PublicationAdd BLAST293
    Alternative sequenceiVSP_010539104 – 175Missing in isoform 3. 1 PublicationAdd BLAST72
    Alternative sequenceiVSP_010540175 – 193Missing in isoform 8. 1 PublicationAdd BLAST19
    Alternative sequenceiVSP_044093196 – 356VYKDE…KHWTQ → PCTSSCDQPGF in isoform 13. 1 PublicationAdd BLAST161
    Alternative sequenceiVSP_010541306 – 356AVIEM…KHWTQ → E in isoform 6, isoform 9 and isoform 11. 3 PublicationsAdd BLAST51

    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
    		AY302067 mRNA Translation: AAQ74130.1
    AY302068 mRNA Translation: AAQ74131.1
    AY302070 mRNA Translation: AAQ74133.1
    AY302071 mRNA Translation: AAQ74134.1
    AY302072 mRNA Translation: AAQ74135.1
    AY302074 mRNA Translation: AAQ74137.1
    AY040777 mRNA Translation: AAK91768.1
    AY208829 mRNA Translation: AAP86319.1
    AY208830 mRNA Translation: AAP86320.1
    AY208831 mRNA Translation: AAP86321.1
    AY208832 mRNA Translation: AAP86322.1
    AY208833 mRNA Translation: AAP86323.1
    AY208834 mRNA Translation: AAP86324.1
    AY208835 mRNA Translation: AAP86325.1
    AY208836 mRNA Translation: AAP86326.1
    AY208837 mRNA Translation: AAP86327.1
    AY208838 mRNA Translation: AAP86328.1
    AY208839 mRNA Translation: AAP86329.1
    AY208840 mRNA Translation: AAP86330.1
    AY208841 mRNA Translation: AAP86331.1
    AY208842 mRNA Translation: AAP86332.1
    AK000164 mRNA Translation: BAA90985.1
    AK055672 mRNA Translation: BAG51552.1
    BX538161 mRNA Translation: CAD98041.1
    AL162590 Genomic DNA No translation available.
    AL353717 Genomic DNA No translation available.
    CH471071 Genomic DNA Translation: EAW58530.1
    CH471071 Genomic DNA Translation: EAW58529.1
    CH471071 Genomic DNA Translation: EAW58531.1
    CH471071 Genomic DNA Translation: EAW58532.1
    CH471071 Genomic DNA Translation: EAW58534.1
    CH471071 Genomic DNA Translation: EAW58535.1
    BC001628 mRNA Translation: AAH01628.1
    BC032650 mRNA Translation: AAH32650.1
    BC104881 mRNA Translation: AAI04882.1
    AJ565850 mRNA Translation: CAD92454.1
    AJ565851 mRNA Translation: CAD92455.1
    AJ565852 mRNA Translation: CAD92456.1
    AJ565853 mRNA Translation: CAD92457.1
    AJ565854 mRNA Translation: CAD92458.1
    AJ565855 mRNA Translation: CAD92459.1
    AJ575566 mRNA Translation: CAE01427.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS47956.1 [Q7Z2E3-7]
    CCDS56568.1 [Q7Z2E3-10]
    CCDS6532.1 [Q7Z2E3-11]
    CCDS75827.1 [Q7Z2E3-5]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001182177.1, NM_001195248.1 [Q7Z2E3-1]
    NP_001182178.1, NM_001195249.1 [Q7Z2E3-7]
    NP_001182179.1, NM_001195250.1 [Q7Z2E3-10]
    NP_001182180.1, NM_001195251.1 [Q7Z2E3-9]
    NP_001182181.1, NM_001195252.1 [Q7Z2E3-3]
    NP_001182183.1, NM_001195254.1 [Q7Z2E3-5]
    NP_778239.1, NM_175069.2 [Q7Z2E3-11]
    NP_778243.1, NM_175073.2 [Q7Z2E3-7]
    XP_006716854.1, XM_006716791.3 [Q7Z2E3-7]
    XP_006716855.1, XM_006716792.2 [Q7Z2E3-4]
    XP_011516240.1, XM_011517938.1 [Q7Z2E3-4]
    XP_011516241.1, XM_011517939.2 [Q7Z2E3-4]
    XP_016870326.1, XM_017014837.1 [Q7Z2E3-5]

    UniGene gene-oriented nucleotide sequence clusters

    More...    UniGenei    		Hs.20158

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000309615; ENSP00000311547; ENSG00000137074 [Q7Z2E3-5]
    ENST00000379817; ENSP00000369145; ENSG00000137074 [Q7Z2E3-7]
    ENST00000379819; ENSP00000369147; ENSG00000137074 [Q7Z2E3-1]
    ENST00000379825; ENSP00000369153; ENSG00000137074 [Q7Z2E3-11]
    ENST00000397172; ENSP00000380357; ENSG00000137074 [Q7Z2E3-3]
    ENST00000436040; ENSP00000400806; ENSG00000137074 [Q7Z2E3-7]
    ENST00000460940; ENSP00000418311; ENSG00000137074 [Q7Z2E3-12]
    ENST00000463596; ENSP00000419846; ENSG00000137074 [Q7Z2E3-7]
    ENST00000467331; ENSP00000418733; ENSG00000137074 [Q7Z2E3-12]
    ENST00000468275; ENSP00000420263; ENSG00000137074 [Q7Z2E3-7]
    ENST00000472896; ENSP00000417804; ENSG00000137074 [Q7Z2E3-12]
    ENST00000476858; ENSP00000419042; ENSG00000137074 [Q7Z2E3-10]
    ENST00000479656; ENSP00000420071; ENSG00000137074 [Q7Z2E3-12]
    ENST00000482687; ENSP00000419289; ENSG00000137074 [Q7Z2E3-13]
    ENST00000485479; ENSP00000418144; ENSG00000137074 [Q7Z2E3-12]
    ENST00000494649; ENSP00000417634; ENSG00000137074 [Q7Z2E3-12]
    ENST00000495360; ENSP00000419623; ENSG00000137074 [Q7Z2E3-12]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		54840

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:54840

    UCSC genome browser

    More...    UCSCi    		uc003zrm.4 human [Q7Z2E3-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <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
    		AY302067 mRNA Translation: AAQ74130.1
    AY302068 mRNA Translation: AAQ74131.1
    AY302070 mRNA Translation: AAQ74133.1
    AY302071 mRNA Translation: AAQ74134.1
    AY302072 mRNA Translation: AAQ74135.1
    AY302074 mRNA Translation: AAQ74137.1
    AY040777 mRNA Translation: AAK91768.1
    AY208829 mRNA Translation: AAP86319.1
    AY208830 mRNA Translation: AAP86320.1
    AY208831 mRNA Translation: AAP86321.1
    AY208832 mRNA Translation: AAP86322.1
    AY208833 mRNA Translation: AAP86323.1
    AY208834 mRNA Translation: AAP86324.1
    AY208835 mRNA Translation: AAP86325.1
    AY208836 mRNA Translation: AAP86326.1
    AY208837 mRNA Translation: AAP86327.1
    AY208838 mRNA Translation: AAP86328.1
    AY208839 mRNA Translation: AAP86329.1
    AY208840 mRNA Translation: AAP86330.1
    AY208841 mRNA Translation: AAP86331.1
    AY208842 mRNA Translation: AAP86332.1
    AK000164 mRNA Translation: BAA90985.1
    AK055672 mRNA Translation: BAG51552.1
    BX538161 mRNA Translation: CAD98041.1
    AL162590 Genomic DNA No translation available.
    AL353717 Genomic DNA No translation available.
    CH471071 Genomic DNA Translation: EAW58530.1
    CH471071 Genomic DNA Translation: EAW58529.1
    CH471071 Genomic DNA Translation: EAW58531.1
    CH471071 Genomic DNA Translation: EAW58532.1
    CH471071 Genomic DNA Translation: EAW58534.1
    CH471071 Genomic DNA Translation: EAW58535.1
    BC001628 mRNA Translation: AAH01628.1
    BC032650 mRNA Translation: AAH32650.1
    BC104881 mRNA Translation: AAI04882.1
    AJ565850 mRNA Translation: CAD92454.1
    AJ565851 mRNA Translation: CAD92455.1
    AJ565852 mRNA Translation: CAD92456.1
    AJ565853 mRNA Translation: CAD92457.1
    AJ565854 mRNA Translation: CAD92458.1
    AJ565855 mRNA Translation: CAD92459.1
    AJ575566 mRNA Translation: CAE01427.1
    CCDSiCCDS47956.1 [Q7Z2E3-7]
    CCDS56568.1 [Q7Z2E3-10]
    CCDS6532.1 [Q7Z2E3-11]
    CCDS75827.1 [Q7Z2E3-5]
    RefSeqiNP_001182177.1, NM_001195248.1 [Q7Z2E3-1]
    NP_001182178.1, NM_001195249.1 [Q7Z2E3-7]
    NP_001182179.1, NM_001195250.1 [Q7Z2E3-10]
    NP_001182180.1, NM_001195251.1 [Q7Z2E3-9]
    NP_001182181.1, NM_001195252.1 [Q7Z2E3-3]
    NP_001182183.1, NM_001195254.1 [Q7Z2E3-5]
    NP_778239.1, NM_175069.2 [Q7Z2E3-11]
    NP_778243.1, NM_175073.2 [Q7Z2E3-7]
    XP_006716854.1, XM_006716791.3 [Q7Z2E3-7]
    XP_006716855.1, XM_006716792.2 [Q7Z2E3-4]
    XP_011516240.1, XM_011517938.1 [Q7Z2E3-4]
    XP_011516241.1, XM_011517939.2 [Q7Z2E3-4]
    XP_016870326.1, XM_017014837.1 [Q7Z2E3-5]
    UniGeneiHs.20158

    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
    3KT9X-ray1.65A15-116[»]
    4NDFX-ray1.94A/B179-356[»]
    4NDGX-ray2.54A/B179-356[»]
    4NDHX-ray1.85A/B179-356[»]
    4NDIX-ray1.90A/B179-356[»]
    6CVOX-ray2.40A/B179-356[»]
    6CVPX-ray2.00A/B179-356[»]
    6CVQX-ray1.65A/B179-354[»]
    6CVRX-ray1.88A/B179-356[»]
    6CVSX-ray2.11A/B179-356[»]
    6CVTX-ray2.94A/B179-356[»]
    ProteinModelPortaliQ7Z2E3
    SMRiQ7Z2E3
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi120191, 28 interactors
    IntActiQ7Z2E3, 22 interactors
    MINTiQ7Z2E3
    STRINGi9606.ENSP00000369141

    PTM databases

    iPTMnetiQ7Z2E3
    PhosphoSitePlusiQ7Z2E3

    Polymorphism and mutation databases

    BioMutaiAPTX
    DMDMi48428038

    Proteomic databases

    EPDiQ7Z2E3
    MaxQBiQ7Z2E3
    PaxDbiQ7Z2E3
    PeptideAtlasiQ7Z2E3
    PRIDEiQ7Z2E3
    ProteomicsDBi68945
    68946 [Q7Z2E3-10]
    68947 [Q7Z2E3-11]
    68948 [Q7Z2E3-2]
    68949 [Q7Z2E3-3]
    68950 [Q7Z2E3-4]
    68951 [Q7Z2E3-5]
    68952 [Q7Z2E3-6]
    68953 [Q7Z2E3-7]
    68954 [Q7Z2E3-8]
    68955 [Q7Z2E3-9]
    TopDownProteomicsiQ7Z2E3-5 [Q7Z2E3-5]

    Protocols and materials databases

    The DNASU plasmid repository

    More...    DNASUi    		54840
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000309615; ENSP00000311547; ENSG00000137074 [Q7Z2E3-5]
    ENST00000379817; ENSP00000369145; ENSG00000137074 [Q7Z2E3-7]
    ENST00000379819; ENSP00000369147; ENSG00000137074 [Q7Z2E3-1]
    ENST00000379825; ENSP00000369153; ENSG00000137074 [Q7Z2E3-11]
    ENST00000397172; ENSP00000380357; ENSG00000137074 [Q7Z2E3-3]
    ENST00000436040; ENSP00000400806; ENSG00000137074 [Q7Z2E3-7]
    ENST00000460940; ENSP00000418311; ENSG00000137074 [Q7Z2E3-12]
    ENST00000463596; ENSP00000419846; ENSG00000137074 [Q7Z2E3-7]
    ENST00000467331; ENSP00000418733; ENSG00000137074 [Q7Z2E3-12]
    ENST00000468275; ENSP00000420263; ENSG00000137074 [Q7Z2E3-7]
    ENST00000472896; ENSP00000417804; ENSG00000137074 [Q7Z2E3-12]
    ENST00000476858; ENSP00000419042; ENSG00000137074 [Q7Z2E3-10]
    ENST00000479656; ENSP00000420071; ENSG00000137074 [Q7Z2E3-12]
    ENST00000482687; ENSP00000419289; ENSG00000137074 [Q7Z2E3-13]
    ENST00000485479; ENSP00000418144; ENSG00000137074 [Q7Z2E3-12]
    ENST00000494649; ENSP00000417634; ENSG00000137074 [Q7Z2E3-12]
    ENST00000495360; ENSP00000419623; ENSG00000137074 [Q7Z2E3-12]
    GeneIDi54840
    KEGGihsa:54840
    UCSCiuc003zrm.4 human [Q7Z2E3-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		54840
    DisGeNETi54840
    EuPathDBiHostDB:ENSG00000137074.18

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		APTX
    GeneReviewsiAPTX
    HGNCiHGNC:15984 APTX
    HPAiHPA064930
    MalaCardsiAPTX
    MIMi208920 phenotype
    606350 gene
    neXtProtiNX_Q7Z2E3
    OpenTargetsiENSG00000137074
    Orphaneti1168 Ataxia-oculomotor apraxia type 1
    PharmGKBiPA24915

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0562 Eukaryota
    KOG2134 Eukaryota
    ENOG41102F4 LUCA
    GeneTreeiENSGT00940000156806
    HOGENOMiHOG000248858
    HOVERGENiHBG050555
    InParanoidiQ7Z2E3
    KOiK10863
    OMAiWLVRQDN
    OrthoDBiEOG091G0KPQ
    PhylomeDBiQ7Z2E3
    TreeFamiTF313308

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000137074-MONOMER
    SABIO-RKiQ7Z2E3
    SIGNORiQ7Z2E3

    Miscellaneous databases

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

    More...    ChiTaRSi    		APTX human
    EvolutionaryTraceiQ7Z2E3

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		Aprataxin

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

    More...    GenomeRNAii    		54840

    Protein Ontology

    More...    PROi    		PR:Q7Z2E3

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000137074 Expressed in 210 organ(s), highest expression level in testis
    CleanExiHS_APTX
    ExpressionAtlasiQ7Z2E3 baseline and differential
    GenevisibleiQ7Z2E3 HS

    Family and domain databases

    CDDicd00060 FHA, 1 hit
    Gene3Di3.30.428.10, 1 hit
    InterProiView protein in InterPro
    IPR026963 Aprataxin
    IPR000253 FHA_dom
    IPR019808 Histidine_triad_CS
    IPR011146 HIT-like
    IPR036265 HIT-like_sf
    IPR008984 SMAD_FHA_dom_sf
    IPR032566 Znf-C2HE
    IPR013087 Znf_C2H2_type
    PANTHERiPTHR12486:SF4 PTHR12486:SF4, 1 hit
    PfamiView protein in Pfam
    PF16278 zf-C2HE, 1 hit
    SUPFAMiSSF49879 SSF49879, 1 hit
    SSF54197 SSF54197, 1 hit
    PROSITEiView protein in PROSITE
    PS00892 HIT_1, 1 hit
    PS51084 HIT_2, 1 hit
    PS00028 ZINC_FINGER_C2H2_1, 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 nameiAPTX_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: Q7Z2E3
    Secondary accession number(s): A8MTN4
    , D3DRK9, D3DRL0, Q0P662, Q5T781, Q5T782, Q5T784, Q6JV81, Q6JV82, Q6JV85, Q7Z2F3, Q7Z336, Q7Z5R5, Q7Z6V7, Q7Z6V8, Q9NXM5
    <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: June 7, 2004
    Last sequence update: June 7, 2004
    Last modified: December 5, 2018
    This is version 165 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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