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Entry version 164 (18 Sep 2019)
Sequence version 4 (18 May 2010)
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Protein

Probable helicase senataxin

Gene

SETX

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

Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).By similarity7 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi1963 – 1970ATPSequence analysis8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHelicase, Hydrolase
Biological processBiological rhythms, Differentiation, DNA damage, DNA recombination, DNA repair, Neurogenesis, Spermatogenesis
LigandATP-binding, Nucleotide-binding

<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:
Probable helicase senataxinCurated (EC:3.6.4.-)
Alternative name(s):
Amyotrophic lateral sclerosis 4 protein
SEN1 homologCurated
Senataxin1 PublicationImported
<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:SETX1 PublicationImported
Synonyms:ALS4, KIAA0625, SCAR1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:445 SETX

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608465 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z333

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Chromosome, Cytoplasm, Nucleus, Telomere

<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

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN2 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAN2 patients manifest oculomotor apraxia.
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_036646274M → I in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs997473183Ensembl.1
Natural variantiVAR_072587274M → V in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs753713810Ensembl.1
Natural variantiVAR_018777305W → C in SCAN2; abolishes interaction with EXOSC9; does not abolish interaction with UBE2I; decreases sumoylation. 2 Publications1
Natural variantiVAR_071682331I → K in SCAN2. 1 Publication1
Natural variantiVAR_018778332R → W in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs29001665EnsemblClinVar.1
Natural variantiVAR_018780413P → L in SCAN2; abolishes interaction with EXOSC9; does not abolish interaction with UBE2I; decreases sumoylation. 2 Publications1
Natural variantiVAR_071683496P → L in SCAN2. 1 Publication1
Natural variantiVAR_036647603N → D in SCAN2; atypical; associated with K-653. 1 PublicationCorresponds to variant dbSNP:rs116205032EnsemblClinVar.1
Natural variantiVAR_036648653Q → K in SCAN2; atypical; associated with D-603. 1 PublicationCorresponds to variant dbSNP:rs116333061EnsemblClinVar.1
Natural variantiVAR_0366491294R → C in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs267607044EnsemblClinVar.1
Natural variantiVAR_0187881756F → S in SCAN2; heterozygous in a British family. 1 PublicationCorresponds to variant dbSNP:rs762175796Ensembl.1
Natural variantiVAR_0725881976L → R in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs121434379EnsemblClinVar.1
Natural variantiVAR_0187912213P → L in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs28940290EnsemblClinVar.1
Natural variantiVAR_0716872229M → T in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs1471824334Ensembl.1
Natural variantiVAR_0366502368P → R in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs1420833435Ensembl.1
Amyotrophic lateral sclerosis 4 (ALS4)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of amyotrophic lateral sclerosis with childhood- or adolescent-onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0187763T → I in ALS4; heterozygous; does not affect the interaction with EXOSC9 and UBE2I; does not decrease sumoylation. 1 PublicationCorresponds to variant dbSNP:rs28941475EnsemblClinVar.1
Natural variantiVAR_018779389L → S in ALS4; does not affect the interaction with EXOSC9 and UBE2I; does not decrease sumoylation and ubiquitination; does not inhibit homodimerization; unlike the wild-type protein the mutant induces interaction with C14orf178. 3 PublicationsCorresponds to variant dbSNP:rs29001584EnsemblClinVar.1
Natural variantiVAR_0716851554C → G in ALS4. 1 PublicationCorresponds to variant dbSNP:rs112089123EnsemblClinVar.1
Natural variantiVAR_0716862029K → E in ALS4. 1 PublicationCorresponds to variant dbSNP:rs746525639EnsemblClinVar.1
Natural variantiVAR_0187902136R → H in ALS4. 1 PublicationCorresponds to variant dbSNP:rs121434378EnsemblClinVar.1
Natural variantiVAR_0716882547I → T in ALS4. 1 PublicationCorresponds to variant dbSNP:rs151117904EnsemblClinVar.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>Mutagenesisi65E → K: Abolishes interaction with EXOSC9 and UBE2I and decreases sumoylation. 1 Publication1

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
23064

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

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GeneReviewsi
SETX

MalaCards human disease database

More...
MalaCardsi
SETX
MIMi602433 phenotype
606002 phenotype

Open Targets

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OpenTargetsi
ENSG00000107290

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

More...
Orphaneti
357043 Amyotrophic lateral sclerosis type 4
64753 Spinocerebellar ataxia with axonal neuropathy type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24751

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SETX

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296453021

<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_00000807241 – 2677Probable helicase senataxinAdd BLAST2677

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki339Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
<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 residuei615PhosphoserineCombined sources1
Modified residuei642PhosphoserineCombined sources1
Modified residuei878PhosphoserineBy similarity1
Cross-linki894Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei911PhosphoserineCombined sources1
Modified residuei947PhosphoserineCombined sources1
Modified residuei956PhosphoserineCombined sources1
Modified residuei1017PhosphoserineCombined sources1
Modified residuei1019PhosphoserineCombined sources1
Cross-linki1056Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1063Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1330PhosphoserineCombined sources1
Cross-linki1340Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1341Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1366PhosphoserineCombined sources1
Cross-linki1415Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1489PhosphoserineBy similarity1
Modified residuei1621PhosphoserineCombined sources1
Modified residuei1623PhosphoserineCombined sources1
Modified residuei1663PhosphoserineCombined sources1
Modified residuei2474PhosphothreonineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated.1 Publication
Sumoylated preferentially with SUMO2 or SUMO3 (PubMed:24105744, PubMed:24244371).2 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7Z333

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7Z333

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q7Z333

MaxQB - The MaxQuant DataBase

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MaxQBi
Q7Z333

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

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PaxDbi
Q7Z333

PeptideAtlas

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PeptideAtlasi
Q7Z333

PRoteomics IDEntifications database

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PRIDEi
Q7Z333

ProteomicsDB human proteome resource

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ProteomicsDBi
69001 [Q7Z333-1]
69002 [Q7Z333-3]
69003 [Q7Z333-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7Z333

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

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PhosphoSitePlusi
Q7Z333

<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

Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000107290 Expressed in 214 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7Z333 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q7Z333 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA024105
HPA057269

<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

Homodimer (PubMed:24244371).

Interacts with PER2; the interaction inhibits termination of circadian target genes (By similarity).

Interacts with CHD4, POLR2A, PRKDC and TRIM28 (PubMed:23149945). Does not interact with C14orf178 (PubMed:24244371).

Interacts with UBE2I (PubMed:24105744).

Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation (PubMed:24105744).

Interacts with NCL (via N-terminus domain) (PubMed:19515850).

Interacts with PABPN1, PABPC1 and SF3B1 (PubMed:19515850).

Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A (PubMed:19515850, PubMed:26700805).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116699, 61 interactors

Database of interacting proteins

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DIPi
DIP-38360N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q7Z333

Protein interaction database and analysis system

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IntActi
Q7Z333, 52 interactors

Molecular INTeraction database

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MINTi
Q7Z333

STRING: functional protein association networks

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STRINGi
9606.ENSP00000224140

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

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

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SMRi
Q7Z333

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2661 – 2677Necessary for nuclear localizationAdd BLAST17

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili2105 – 2136Sequence analysisAdd BLAST32

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>Motifi2070 – 2087Bipartite nuclear localization signalSequence analysisAdd BLAST18

<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 N-terminus domain is necessary for S/G2 nuclear foci localization (PubMed:23149945).1 Publication

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

Belongs to the DNA2/NAM7 helicase family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1801 Eukaryota
COG1112 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160918

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z333

KEGG Orthology (KO)

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KOi
K10706

Identification of Orthologs from Complete Genome Data

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OMAi
YFNVFFP

Database of Orthologous Groups

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OrthoDBi
62494at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z333

TreeFam database of animal gene trees

More...
TreeFami
TF324634

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR041679 DNA2/NAM7-like_AAA
IPR041677 DNA2/NAM7_AAA_11
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13086 AAA_11, 1 hit
PF13087 AAA_12, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 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>. 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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z333-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MSTCCWCTPG GASTIDFLKR YASNTPSGEF QTADEDLCYC LECVAEYHKA
60 70 80 90 100
RDELPFLHEV LWELETLRLI NHFEKSMKAE IGDDDELYIV DNNGEMPLFD
110 120 130 140 150
ITGQDFENKL RVPLLEILKY PYLLLHERVN ELCVEALCRM EQANCSFQVF
160 170 180 190 200
DKHPGIYLFL VHPNEMVRRW AILTARNLGK VDRDDYYDLQ EVLLCLFKVI
210 220 230 240 250
ELGLLESPDI YTSSVLEKGK LILLPSHMYD TTNYKSYWLG ICMLLTILEE
260 270 280 290 300
QAMDSLLLGS DKQNDFMQSI LHTMEREADD DSVDPFWPAL HCFMVILDRL
310 320 330 340 350
GSKVWGQLMD PIVAFQTIIN NASYNREIRH IRNSSVRTKL EPESYLDDMV
360 370 380 390 400
TCSQIVYNYN PEKTKKDSGW RTAICPDYCP NMYEEMETLA SVLQSDIGQD
410 420 430 440 450
MRVHNSTFLW FIPFVQSLMD LKDLGVAYIA QVVNHLYSEV KEVLNQTDAV
460 470 480 490 500
CDKVTEFFLL ILVSVIELHR NKKCLHLLWV SSQQWVEAVV KCAKLPTTAF
510 520 530 540 550
TRSSEKSSGN CSKGTAMISS LSLHSMPSNS VQLAYVQLIR SLLKEGYQLG
560 570 580 590 600
QQSLCKRFWD KLNLFLRGNL SLGWQLTSQE THELQSCLKQ IIRNIKFKAP
610 620 630 640 650
PCNTFVDLTS ACKISPASYN KEESEQMGKT SRKDMHCLEA SSPTFSKEPM
660 670 680 690 700
KVQDSVLIKA DNTIEGDNNE QNYIKDVKLE DHLLAGSCLK QSSKNIFTER
710 720 730 740 750
AEDQIKISTR KQKSVKEISS YTPKDCTSRN GPERGCDRGI IVSTRLLTDS
760 770 780 790 800
STDALEKVST SNEDFSLKDD ALAKTSKRKT KVQKDEICAK LSHVIKKQHR
810 820 830 840 850
KSTLVDNTIN LDENLTVSNI ESFYSRKDTG VQKGDGFIHN LSLDPSGVLD
860 870 880 890 900
DKNGEQKSQN NVLPKEKQLK NEELVIFSFH ENNCKIQEFH VDGKELIPFT
910 920 930 940 950
EMTNASEKKS SPFKDLMTVP ESRDEEMSNS TSVIYSNLTR EQAPDISPKS
960 970 980 990 1000
DTLTDSQIDR DLHKLSLLAQ ASVITFPSDS PQNSSQLQRK VKEDKRCFTA
1010 1020 1030 1040 1050
NQNNVGDTSR GQVIIISDSD DDDDERILSL EKLTKQDKIC LEREHPEQHV
1060 1070 1080 1090 1100
STVNSKEEKN PVKEEKTETL FQFEESDSQC FEFESSSEVF SVWQDHPDDN
1110 1120 1130 1140 1150
NSVQDGEKKC LAPIANTTNG QGCTDYVSEV VKKGAEGIEE HTRPRSISVE
1160 1170 1180 1190 1200
EFCEIEVKKP KRKRSEKPMA EDPVRPSSSV RNEGQSDTNK RDLVGNDFKS
1210 1220 1230 1240 1250
IDRRTSTPNS RIQRATTVSQ KKSSKLCTCT EPIRKVPVSK TPKKTHSDAK
1260 1270 1280 1290 1300
KGQNRSSNYL SCRTTPAIVP PKKFRQCPEP TSTAEKLGLK KGPRKAYELS
1310 1320 1330 1340 1350
QRSLDYVAQL RDHGKTVGVV DTRKKTKLIS PQNLSVRNNK KLLTSQELQM
1360 1370 1380 1390 1400
QRQIRPKSQK NRRRLSDCES TDVKRAGSHT AQNSDIFVPE SDRSDYNCTG
1410 1420 1430 1440 1450
GTEVLANSNR KQLIKCMPSE PETIKAKHGS PATDDACPLN QCDSVVLNGT
1460 1470 1480 1490 1500
VPTNEVIVST SEDPLGGGDP TARHIEMAAL KEGEPDSSSD AEEDNLFLTQ
1510 1520 1530 1540 1550
NDPEDMDLCS QMENDNYKLI ELIHGKDTVE VEEDSVSRPQ LESLSGTKCK
1560 1570 1580 1590 1600
YKDCLETTKN QGEYCPKHSE VKAADEDVFR KPGLPPPASK PLRPTTKIFS
1610 1620 1630 1640 1650
SKSTSRIAGL SKSLETSSAL SPSLKNKSKG IQSILKVPQP VPLIAQKPVG
1660 1670 1680 1690 1700
EMKNSCNVLH PQSPNNSNRQ GCKVPFGESK YFPSSSPVNI LLSSQSVSDT
1710 1720 1730 1740 1750
FVKEVLKWKY EMFLNFGQCG PPASLCQSIS RPVPVRFHNY GDYFNVFFPL
1760 1770 1780 1790 1800
MVLNTFETVA QEWLNSPNRE NFYQLQVRKF PADYIKYWEF AVYLEECELA
1810 1820 1830 1840 1850
KQLYPKENDL VFLAPERINE EKKDTERNDI QDLHEYHSGY VHKFRRTSVM
1860 1870 1880 1890 1900
RNGKTECYLS IQTQENFPAN LNELVNCIVI SSLVTTQRKL KAMSLLGSRN
1910 1920 1930 1940 1950
QLARAVLNPN PMDFCTKDLL TTTSERIIAY LRDFNEDQKK AIETAYAMVK
1960 1970 1980 1990 2000
HSPSVAKICL IHGPPGTGKS KTIVGLLYRL LTENQRKGHS DENSNAKIKQ
2010 2020 2030 2040 2050
NRVLVCAPSN AAVDELMKKI ILEFKEKCKD KKNPLGNCGD INLVRLGPEK
2060 2070 2080 2090 2100
SINSEVLKFS LDSQVNHRMK KELPSHVQAM HKRKEFLDYQ LDELSRQRAL
2110 2120 2130 2140 2150
CRGGREIQRQ ELDENISKVS KERQELASKI KEVQGRPQKT QSIIILESHI
2160 2170 2180 2190 2200
ICCTLSTSGG LLLESAFRGQ GGVPFSCVIV DEAGQSCEIE TLTPLIHRCN
2210 2220 2230 2240 2250
KLILVGDPKQ LPPTVISMKA QEYGYDQSMM ARFCRLLEEN VEHNMISRLP
2260 2270 2280 2290 2300
ILQLTVQYRM HPDICLFPSN YVYNRNLKTN RQTEAIRCSS DWPFQPYLVF
2310 2320 2330 2340 2350
DVGDGSERRD NDSYINVQEI KLVMEIIKLI KDKRKDVSFR NIGIITHYKA
2360 2370 2380 2390 2400
QKTMIQKDLD KEFDRKGPAE VDTVDAFQGR QKDCVIVTCV RANSIQGSIG
2410 2420 2430 2440 2450
FLASLQRLNV TITRAKYSLF ILGHLRTLME NQHWNQLIQD AQKRGAIIKT
2460 2470 2480 2490 2500
CDKNYRHDAV KILKLKPVLQ RSLTHPPTIA PEGSRPQGGL PSSKLDSGFA
2510 2520 2530 2540 2550
KTSVAASLYH TPSDSKEITL TVTSKDPERP PVHDQLQDPR LLKRMGIEVK
2560 2570 2580 2590 2600
GGIFLWDPQP SSPQHPGATP PTGEPGFPVV HQDLSHIQQP AAVVAALSSH
2610 2620 2630 2640 2650
KPPVRGEPPA ASPEASTCQS KCDDPEEELC HRREARAFSE GEQEKCGSET
2660 2670
HHTRRNSRWD KRTLEQEDSS SKKRKLL
Length:2,677
Mass (Da):302,880
Last modified:May 18, 2010 - v4
<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:i552FFE4A23A83868
GO
Isoform 3 (identifier: Q7Z333-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2367-2399: Missing.

Note: No experimental confirmation available.
Show »
Length:2,644
Mass (Da):299,420
Checksum:i6FBDACF73E59C50A
GO
Isoform 4 (identifier: Q7Z333-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2429-2429: M → MQLLPRSFCVHVNHSPFFSPEPKYLHWALK

Note: No experimental confirmation available.
Show »
Length:2,706
Mass (Da):306,341
Checksum:i8CEE9E4BE6CB0526
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6RI79X6RI79_HUMAN
Probable helicase senataxin
SETX
948Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91701 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14299 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD97857 differs from that shown. Reason: Frameshift at position 1626.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti657L → S in CAD98045 (PubMed:17974005).Curated1
Sequence conflicti866E → G in CAD97857 (PubMed:17974005).Curated1
Sequence conflicti894K → E in CAH18105 (PubMed:17974005).Curated1
Sequence conflicti895E → G in CAD98045 (PubMed:17974005).Curated1
Sequence conflicti895E → G in BAA31600 (PubMed:9734811).Curated1
Sequence conflicti977P → T in CAD97857 (PubMed:17974005).Curated1
Sequence conflicti1073F → C in CAD97857 (PubMed:17974005).Curated1
Sequence conflicti1276Q → E in BAA31600 (PubMed:9734811).Curated1
Sequence conflicti1593R → G in CAH18105 (PubMed:17974005).Curated1
Sequence conflicti1626N → K in CAD97857 (PubMed:17974005).Curated1
Sequence conflicti1634I → V in CAH18105 (PubMed:17974005).Curated1
Sequence conflicti1648 – 1650PVG → TRP in AAH32622 (PubMed:15489334).Curated3
Sequence conflicti1725L → P in CAD97857 (PubMed:17974005).Curated1
Sequence conflicti1826E → K in CAD98045 (PubMed:17974005).Curated1
Sequence conflicti1826E → K in AAH32600 (PubMed:15489334).Curated1
Sequence conflicti1826E → K in AAH32622 (PubMed:15489334).Curated1
Sequence conflicti1867F → L in AAR13367 (PubMed:14770181).Curated1
Sequence conflicti1867F → L in AAH32622 (PubMed:15489334).Curated1
Sequence conflicti2078Q → L in CAD97857 (PubMed:17974005).Curated1
Sequence conflicti2324M → E in BAB14299 (PubMed:14702039).Curated1
Sequence conflicti2423G → E in CAH18105 (PubMed:17974005).Curated1
Sequence conflicti2458D → G in CAH18105 (PubMed:17974005).Curated1
Sequence conflicti2539P → S in CAD97857 (PubMed:17974005).Curated1
Sequence conflicti2565H → R in CAD97857 (PubMed:17974005).Curated1
Sequence conflicti2577F → L in BAB14299 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0187763T → I in ALS4; heterozygous; does not affect the interaction with EXOSC9 and UBE2I; does not decrease sumoylation. 1 PublicationCorresponds to variant dbSNP:rs28941475EnsemblClinVar.1
Natural variantiVAR_036646274M → I in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs997473183Ensembl.1
Natural variantiVAR_072587274M → V in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs753713810Ensembl.1
Natural variantiVAR_018777305W → C in SCAN2; abolishes interaction with EXOSC9; does not abolish interaction with UBE2I; decreases sumoylation. 2 Publications1
Natural variantiVAR_071682331I → K in SCAN2. 1 Publication1
Natural variantiVAR_018778332R → W in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs29001665EnsemblClinVar.1
Natural variantiVAR_018779389L → S in ALS4; does not affect the interaction with EXOSC9 and UBE2I; does not decrease sumoylation and ubiquitination; does not inhibit homodimerization; unlike the wild-type protein the mutant induces interaction with C14orf178. 3 PublicationsCorresponds to variant dbSNP:rs29001584EnsemblClinVar.1
Natural variantiVAR_018780413P → L in SCAN2; abolishes interaction with EXOSC9; does not abolish interaction with UBE2I; decreases sumoylation. 2 Publications1
Natural variantiVAR_071683496P → L in SCAN2. 1 Publication1
Natural variantiVAR_036647603N → D in SCAN2; atypical; associated with K-653. 1 PublicationCorresponds to variant dbSNP:rs116205032EnsemblClinVar.1
Natural variantiVAR_036648653Q → K in SCAN2; atypical; associated with D-603. 1 PublicationCorresponds to variant dbSNP:rs116333061EnsemblClinVar.1
Natural variantiVAR_018781660A → G. Corresponds to variant dbSNP:rs882709EnsemblClinVar.1
Natural variantiVAR_071684992K → R1 PublicationCorresponds to variant dbSNP:rs61742937EnsemblClinVar.1
Natural variantiVAR_0187821061P → L. Corresponds to variant dbSNP:rs12352982EnsemblClinVar.1
Natural variantiVAR_0187831152F → C1 PublicationCorresponds to variant dbSNP:rs3739922EnsemblClinVar.1
Natural variantiVAR_0187841192D → E2 PublicationsCorresponds to variant dbSNP:rs1185193EnsemblClinVar.1
Natural variantiVAR_0562081221K → N. Corresponds to variant dbSNP:rs12344006EnsemblClinVar.1
Natural variantiVAR_0187851252G → R2 PublicationsCorresponds to variant dbSNP:rs1183768EnsemblClinVar.1
Natural variantiVAR_0366491294R → C in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs267607044EnsemblClinVar.1
Natural variantiVAR_0187861331P → L. Corresponds to variant dbSNP:rs11243731EnsemblClinVar.1
Natural variantiVAR_0187871386I → V2 PublicationsCorresponds to variant dbSNP:rs543573EnsemblClinVar.1
Natural variantiVAR_0716851554C → G in ALS4. 1 PublicationCorresponds to variant dbSNP:rs112089123EnsemblClinVar.1
Natural variantiVAR_0187881756F → S in SCAN2; heterozygous in a British family. 1 PublicationCorresponds to variant dbSNP:rs762175796Ensembl.1
Natural variantiVAR_0187891855T → A1 PublicationCorresponds to variant dbSNP:rs2296871EnsemblClinVar.1
Natural variantiVAR_0594581855T → P. Corresponds to variant dbSNP:rs2296871EnsemblClinVar.1
Natural variantiVAR_0725881976L → R in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs121434379EnsemblClinVar.1
Natural variantiVAR_0716862029K → E in ALS4. 1 PublicationCorresponds to variant dbSNP:rs746525639EnsemblClinVar.1
Natural variantiVAR_0187902136R → H in ALS4. 1 PublicationCorresponds to variant dbSNP:rs121434378EnsemblClinVar.1
Natural variantiVAR_0187912213P → L in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs28940290EnsemblClinVar.1
Natural variantiVAR_0716872229M → T in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs1471824334Ensembl.1
Natural variantiVAR_0366502368P → R in SCAN2. 1 PublicationCorresponds to variant dbSNP:rs1420833435Ensembl.1
Natural variantiVAR_0716882547I → T in ALS4. 1 PublicationCorresponds to variant dbSNP:rs151117904EnsemblClinVar.1
Natural variantiVAR_0187922587I → V3 PublicationsCorresponds to variant dbSNP:rs1056899EnsemblClinVar.1
Natural variantiVAR_0187932612S → G1 PublicationCorresponds to variant dbSNP:rs3739927EnsemblClinVar.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_0171242367 – 2399Missing in isoform 3. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_0288262429M → MQLLPRSFCVHVNHSPFFSP EPKYLHWALK in isoform 4. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY362728 mRNA Translation: AAR13367.1
BX537849 mRNA Translation: CAD97857.1 Frameshift.
BX538166 mRNA Translation: CAD98045.1
CR749249 mRNA Translation: CAH18105.1
AL159997 Genomic DNA No translation available.
AL353701 Genomic DNA No translation available.
BC032600 mRNA Translation: AAH32600.2
BC032622 mRNA Translation: AAH32622.2
BC078166 mRNA Translation: AAH78166.1
BC106017 mRNA Translation: AAI06018.1
BC137350 mRNA Translation: AAI37351.1
AB014525 mRNA Translation: BAA31600.2
AK001456 mRNA Translation: BAA91701.1 Different initiation.
AK022902 mRNA Translation: BAB14299.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6947.1 [Q7Z333-1]

NCBI Reference Sequences

More...
RefSeqi
NP_055861.3, NM_015046.5 [Q7Z333-1]
XP_005272228.1, XM_005272171.1
XP_005272229.1, XM_005272172.2 [Q7Z333-4]
XP_005272230.1, XM_005272173.2 [Q7Z333-4]
XP_011516706.1, XM_011518404.2 [Q7Z333-4]
XP_011516707.1, XM_011518405.2 [Q7Z333-4]
XP_016869984.1, XM_017014495.1
XP_016869986.1, XM_017014497.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000224140; ENSP00000224140; ENSG00000107290 [Q7Z333-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23064

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23064

UCSC genome browser

More...
UCSCi
uc004cbk.4 human [Q7Z333-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY362728 mRNA Translation: AAR13367.1
BX537849 mRNA Translation: CAD97857.1 Frameshift.
BX538166 mRNA Translation: CAD98045.1
CR749249 mRNA Translation: CAH18105.1
AL159997 Genomic DNA No translation available.
AL353701 Genomic DNA No translation available.
BC032600 mRNA Translation: AAH32600.2
BC032622 mRNA Translation: AAH32622.2
BC078166 mRNA Translation: AAH78166.1
BC106017 mRNA Translation: AAI06018.1
BC137350 mRNA Translation: AAI37351.1
AB014525 mRNA Translation: BAA31600.2
AK001456 mRNA Translation: BAA91701.1 Different initiation.
AK022902 mRNA Translation: BAB14299.1 Different initiation.
CCDSiCCDS6947.1 [Q7Z333-1]
RefSeqiNP_055861.3, NM_015046.5 [Q7Z333-1]
XP_005272228.1, XM_005272171.1
XP_005272229.1, XM_005272172.2 [Q7Z333-4]
XP_005272230.1, XM_005272173.2 [Q7Z333-4]
XP_011516706.1, XM_011518404.2 [Q7Z333-4]
XP_011516707.1, XM_011518405.2 [Q7Z333-4]
XP_016869984.1, XM_017014495.1
XP_016869986.1, XM_017014497.1

3D structure databases

SMRiQ7Z333
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116699, 61 interactors
DIPiDIP-38360N
ELMiQ7Z333
IntActiQ7Z333, 52 interactors
MINTiQ7Z333
STRINGi9606.ENSP00000224140

PTM databases

iPTMnetiQ7Z333
PhosphoSitePlusiQ7Z333

Polymorphism and mutation databases

BioMutaiSETX
DMDMi296453021

Proteomic databases

EPDiQ7Z333
jPOSTiQ7Z333
MassIVEiQ7Z333
MaxQBiQ7Z333
PaxDbiQ7Z333
PeptideAtlasiQ7Z333
PRIDEiQ7Z333
ProteomicsDBi69001 [Q7Z333-1]
69002 [Q7Z333-3]
69003 [Q7Z333-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000224140; ENSP00000224140; ENSG00000107290 [Q7Z333-1]
GeneIDi23064
KEGGihsa:23064
UCSCiuc004cbk.4 human [Q7Z333-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23064
DisGeNETi23064

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SETX
GeneReviewsiSETX
HGNCiHGNC:445 SETX
HPAiHPA024105
HPA057269
MalaCardsiSETX
MIMi602433 phenotype
606002 phenotype
608465 gene
neXtProtiNX_Q7Z333
OpenTargetsiENSG00000107290
Orphaneti357043 Amyotrophic lateral sclerosis type 4
64753 Spinocerebellar ataxia with axonal neuropathy type 2
PharmGKBiPA24751

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1801 Eukaryota
COG1112 LUCA
GeneTreeiENSGT00940000160918
InParanoidiQ7Z333
KOiK10706
OMAiYFNVFFP
OrthoDBi62494at2759
PhylomeDBiQ7Z333
TreeFamiTF324634

Miscellaneous databases

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

More...
ChiTaRSi
SETX human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SETX

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

More...
GenomeRNAii
23064

Pharos

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Pharosi
Q7Z333

Protein Ontology

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PROi
PR:Q7Z333

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000107290 Expressed in 214 organ(s), highest expression level in testis
ExpressionAtlasiQ7Z333 baseline and differential
GenevisibleiQ7Z333 HS

Family and domain databases

InterProiView protein in InterPro
IPR041679 DNA2/NAM7-like_AAA
IPR041677 DNA2/NAM7_AAA_11
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF13086 AAA_11, 1 hit
PF13087 AAA_12, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiSETX_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: Q7Z333
Secondary accession number(s): A2A396
, B2RPB2, B5ME16, C9JQ10, O75120, Q3KQX4, Q5JUJ1, Q68DW5, Q6AZD7, Q7Z3J6, Q8WX33, Q9H9D1, Q9NVP9
<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: May 18, 2010
Last modified: September 18, 2019
This is version 164 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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