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UniProtKB - Q7Z2E3 (APTX_HUMAN)

Entry version 188 (25 May 2022)
Sequence version 2 (07 Jun 2004)
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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%5Fsection">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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.1.11.7, 2681
3.6.1.70, 2681
3.6.1.71, 2681
3.6.1.72, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7Z2E3

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q7Z2E3

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		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%5Fand%5Ftaxonomy%5Fsection">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:3.6.1.711 Publication3 Publications, EC:3.6.1.72By 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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000137074

<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

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 variants 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.
Related information in OMIM
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%5Fand%5Fbiotech%5Fsection">'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 variant, 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7Z2E3, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4523362

Genetic variation 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 or proteolytic cleavage.<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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7Z2E3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		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: a multi-organism proteome resource

More...ProteomicsDBi		66521
66522
68945 [Q7Z2E3-1]
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

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q7Z2E3, 1 site, 1 O-linked glycan (1 site)

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 testis and 223 other tissues

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		ENSG00000137074, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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/PARP1 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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120191, 76 interactors

Protein interaction database and analysis system

More...IntActi		Q7Z2E3, 29 interactors

Molecular INTeraction database

More...MINTi		Q7Z2E3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000400806

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7Z2E3, protein

<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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q7Z2E3

Biological Magnetic Resonance Data Bank

More...BMRBi		Q7Z2E3

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

More...SMRi		Q7Z2E3

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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%5Fand%5Fdomains%5Fsection">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/PARP1 and NCLAdd BLAST110
Regioni122 – 167DisorderedSequence analysisAdd BLAST46
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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi122 – 143Basic and acidic residuesSequence analysisAdd BLAST22

<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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156806

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_066882_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7Z2E3

Identification of Orthologs from Complete Genome Data

More...OMAi		PLCWLIS

Database of Orthologous Groups

More...OrthoDBi		297700at2759

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-like
IPR041388, FHA_2
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, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF17913, FHA_2, 1 hit
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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.Curated
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.Curated
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.Curated
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.Curated
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.Curated
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

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.Curated
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

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
C9J8U3C9J8U3_HUMAN
Aprataxin
APTX
303Annotation score:

Annotation score:3 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:3 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>
A0A5K1VW64A0A5K1VW64_HUMAN
Aprataxin
APTX
270Annotation score:

Annotation score:3 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>
A0A5F9ZGW5A0A5F9ZGW5_HUMAN
Aprataxin
APTX
138Annotation 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>
A0A5F9ZI51A0A5F9ZI51_HUMAN
Aprataxin
APTX
104Annotation 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>
F8WBM3F8WBM3_HUMAN
Aprataxin
APTX
68Annotation 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
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>
A0A5K1VW80A0A5K1VW80_HUMAN
Aprataxin
APTX
60Annotation 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.<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 [Q7Z2E3-5]
CCDS6532.1 [Q7Z2E3-9]
CCDS75827.1 [Q7Z2E3-5]

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000309615.8; ENSP00000311547.4; ENSG00000137074.20 [Q7Z2E3-5]
ENST00000379817.7; ENSP00000369145.2; ENSG00000137074.20 [Q7Z2E3-7]
ENST00000379819.6; ENSP00000369147.2; ENSG00000137074.20 [Q7Z2E3-7]
ENST00000379825.7; ENSP00000369153.3; ENSG00000137074.20 [Q7Z2E3-9]
ENST00000436040.7; ENSP00000400806.4; ENSG00000137074.20 [Q7Z2E3-5]
ENST00000460940.6; ENSP00000418311.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000463596.6; ENSP00000419846.1; ENSG00000137074.20 [Q7Z2E3-7]
ENST00000464632.6; ENSP00000418069.2; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000465003.6; ENSP00000419430.2; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000467331.6; ENSP00000418733.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000468275.6; ENSP00000420263.2; ENSG00000137074.20 [Q7Z2E3-9]
ENST00000476858.6; ENSP00000419042.2; ENSG00000137074.20 [Q7Z2E3-5]
ENST00000479656.6; ENSP00000420071.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000482687.6; ENSP00000419289.2; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000485479.6; ENSP00000418144.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000494649.5; ENSP00000417634.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000672438.1; ENSP00000499997.1; ENSG00000137074.20 [Q7Z2E3-4]
ENST00000672519.1; ENSP00000500320.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000672535.1; ENSP00000499872.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000672846.1; ENSP00000500396.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000673248.1; ENSP00000500601.1; ENSG00000137074.20 [Q7Z2E3-4]
ENST00000673416.1; ENSP00000500738.1; ENSG00000137074.20 [Q7Z2E3-4]
ENST00000673487.1; ENSP00000500943.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000673598.1; ENSP00000499991.1; ENSG00000137074.20 [Q7Z2E3-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54840

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54840

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000379817.7; ENSP00000369145.2; NM_001195248.2; NP_001182177.2 [Q7Z2E3-7]

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 [Q7Z2E3-5]
CCDS6532.1 [Q7Z2E3-9]
CCDS75827.1 [Q7Z2E3-5]
RefSeqiNP_001182177.1, NM_001195248.1 [Q7Z2E3-7]
NP_001182178.1, NM_001195249.1 [Q7Z2E3-7]
NP_001182179.1, NM_001195250.1 [Q7Z2E3-5]
NP_001182180.1, NM_001195251.1 [Q7Z2E3-9]
NP_001182181.1, NM_001195252.1
NP_001182183.1, NM_001195254.1 [Q7Z2E3-5]
NP_778239.1, NM_175069.2 [Q7Z2E3-9]
NP_778243.1, NM_175073.2 [Q7Z2E3-7]
XP_006716854.1, XM_006716791.3
XP_006716855.1, XM_006716792.2
XP_011516240.1, XM_011517938.1 [Q7Z2E3-4]
XP_011516241.1, XM_011517939.2
XP_016870326.1, XM_017014837.1

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[»]
AlphaFoldDBiQ7Z2E3
BMRBiQ7Z2E3
SMRiQ7Z2E3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120191, 76 interactors
IntActiQ7Z2E3, 29 interactors
MINTiQ7Z2E3
STRINGi9606.ENSP00000400806

Chemistry databases

ChEMBLiCHEMBL4523362

PTM databases

GlyGeniQ7Z2E3, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ7Z2E3
PhosphoSitePlusiQ7Z2E3

Genetic variation databases

BioMutaiAPTX
DMDMi48428038

Proteomic databases

EPDiQ7Z2E3
jPOSTiQ7Z2E3
MassIVEiQ7Z2E3
MaxQBiQ7Z2E3
PaxDbiQ7Z2E3
PeptideAtlasiQ7Z2E3
PRIDEiQ7Z2E3
ProteomicsDBi66521
66522
68945 [Q7Z2E3-1]
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

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10716, 247 antibodies from 30 providers

The DNASU plasmid repository

More...DNASUi		54840

Genome annotation databases

EnsembliENST00000309615.8; ENSP00000311547.4; ENSG00000137074.20 [Q7Z2E3-5]
ENST00000379817.7; ENSP00000369145.2; ENSG00000137074.20 [Q7Z2E3-7]
ENST00000379819.6; ENSP00000369147.2; ENSG00000137074.20 [Q7Z2E3-7]
ENST00000379825.7; ENSP00000369153.3; ENSG00000137074.20 [Q7Z2E3-9]
ENST00000436040.7; ENSP00000400806.4; ENSG00000137074.20 [Q7Z2E3-5]
ENST00000460940.6; ENSP00000418311.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000463596.6; ENSP00000419846.1; ENSG00000137074.20 [Q7Z2E3-7]
ENST00000464632.6; ENSP00000418069.2; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000465003.6; ENSP00000419430.2; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000467331.6; ENSP00000418733.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000468275.6; ENSP00000420263.2; ENSG00000137074.20 [Q7Z2E3-9]
ENST00000476858.6; ENSP00000419042.2; ENSG00000137074.20 [Q7Z2E3-5]
ENST00000479656.6; ENSP00000420071.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000482687.6; ENSP00000419289.2; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000485479.6; ENSP00000418144.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000494649.5; ENSP00000417634.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000672438.1; ENSP00000499997.1; ENSG00000137074.20 [Q7Z2E3-4]
ENST00000672519.1; ENSP00000500320.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000672535.1; ENSP00000499872.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000672846.1; ENSP00000500396.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000673248.1; ENSP00000500601.1; ENSG00000137074.20 [Q7Z2E3-4]
ENST00000673416.1; ENSP00000500738.1; ENSG00000137074.20 [Q7Z2E3-4]
ENST00000673487.1; ENSP00000500943.1; ENSG00000137074.20 [Q7Z2E3-12]
ENST00000673598.1; ENSP00000499991.1; ENSG00000137074.20 [Q7Z2E3-2]
GeneIDi54840
KEGGihsa:54840
MANE-SelectiENST00000379817.7; ENSP00000369145.2; NM_001195248.2; NP_001182177.2 [Q7Z2E3-7]
UCSCiuc003zrm.4, human [Q7Z2E3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54840
DisGeNETi54840

GeneCards: human genes, protein and diseases

More...GeneCardsi		APTX
GeneReviewsiAPTX
HGNCiHGNC:15984, APTX
HPAiENSG00000137074, Low tissue specificity
MalaCardsiAPTX
MIMi208920, phenotype
606350, gene
neXtProtiNX_Q7Z2E3
OpenTargetsiENSG00000137074
Orphaneti1168, Ataxia-oculomotor apraxia type 1
PharmGKBiPA24915
VEuPathDBiHostDB:ENSG00000137074

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0562, Eukaryota
KOG2134, Eukaryota
GeneTreeiENSGT00940000156806
HOGENOMiCLU_066882_2_1_1
InParanoidiQ7Z2E3
OMAiPLCWLIS
OrthoDBi297700at2759
PhylomeDBiQ7Z2E3
TreeFamiTF313308

Enzyme and pathway databases

BRENDAi3.1.11.7, 2681
3.6.1.70, 2681
3.6.1.71, 2681
3.6.1.72, 2681
PathwayCommonsiQ7Z2E3
SABIO-RKiQ7Z2E3
SignaLinkiQ7Z2E3
SIGNORiQ7Z2E3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54840, 15 hits in 1081 CRISPR screens

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
PharosiQ7Z2E3, Tbio

Protein Ontology

More...PROi		PR:Q7Z2E3
RNActiQ7Z2E3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000137074, Expressed in testis and 223 other tissues
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-like
IPR041388, FHA_2
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, 2 hits
PfamiView protein in Pfam
PF17913, FHA_2, 1 hit
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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%5Fand%5Fisoforms">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: May 25, 2022
This is version 188 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, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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