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Entry version 135 (08 May 2019)
Sequence version 2 (11 Jan 2001)
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Protein

Protein downstream neighbor of Son

Gene

DONSON

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

Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability.1 Publication

<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 - 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 functionDevelopmental protein

<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:
Protein downstream neighbor of Son
Alternative name(s):
B17
<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:DONSON
Synonyms:C21orf60
<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 21

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2993 DONSON

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611428 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NYP3

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

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

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<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

Microcephaly-micromelia syndrome (MIMIS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. This extremely rare syndrome is caused by an intronic mutation that leads to the retention of intron 6, probably resulting in non-sense mediated mRNA decay. This isoform has also been detected in healthy tissues, but at much lower levels than in MIMIS samples.1 Publication
Disease descriptionA severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period.
See also OMIM:251230
Microcephaly, short stature, and limb abnormalities (MISSLA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients.
See also OMIM:617604
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_079331278C → R in MISSLA. 1 Publication1
Natural variantiVAR_079332282Y → C in MISSLA; loss of nuclear localization. 1 Publication1
Natural variantiVAR_079333292F → L in MISSLA; loss of nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs779803447EnsemblClinVar.1
Natural variantiVAR_079334293 – 566Missing in MISSLA. 1 PublicationAdd BLAST274
Natural variantiVAR_079335417 – 418Missing in MISSLA; reduced nuclear localization. 1 Publication2
Natural variantiVAR_079336419 – 566Missing in MISSLA. 1 PublicationAdd BLAST148
Natural variantiVAR_079337428 – 566Missing in MISSLA. 1 PublicationAdd BLAST139
Natural variantiVAR_079338433P → S in MISSLA. 1 Publication1
Natural variantiVAR_079339446M → T in MISSLA; reduced protein level; reduced nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs1135401959EnsemblClinVar.1
Natural variantiVAR_079340489K → T in MISSLA; unknown pathological significance; reduced protein level; no effect on nuclear localization; does not complement loss of endogenous DONSON when tested for the rescue of the spontaneous fork stalling observed after DONSON depletion. 1 PublicationCorresponds to variant dbSNP:rs146664036EnsemblClinVar.1
Natural variantiVAR_079341504E → K in MISSLA. 1 PublicationCorresponds to variant dbSNP:rs374688527Ensembl.1
Natural variantiVAR_079342543Q → QK in MISSLA; reduced nuclear localization. 1 Publication1
Natural variantiVAR_079343563 – 566Missing in MISSLA; unknown pathological significance. 1 Publication4

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
29980

MalaCards human disease database

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MalaCardsi
DONSON
MIMi251230 phenotype
617604 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000159147

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27459

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DONSON

<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_00000799791 – 566Protein downstream neighbor of SonAdd BLAST566

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 residuei28PhosphoserineCombined sources1
Modified residuei34PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NYP3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NYP3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NYP3

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

More...
PaxDbi
Q9NYP3

PeptideAtlas

More...
PeptideAtlasi
Q9NYP3

PRoteomics IDEntifications database

More...
PRIDEi
Q9NYP3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83256
83257 [Q9NYP3-2]
83258 [Q9NYP3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NYP3

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

More...
PhosphoSitePlusi
Q9NYP3

<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

Expressed in the brain, with higher levels in prenatal compared to adult brain.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed during embryonic development. At Carnegie stage 22 (about 7.5 weeks gestation), expressed in numerous tissues, including brain, heart, lung, gastrointestinal tract, kidney, hind limb and forelimb digits. Similar expression is observed at 9 weeks of gestation. In the brain of a 9-week old fetus, prominently expressed in the neocortex subventricular zone and in the cortical plate and also detected in the ganglionic eminences. At 12 weeks of gestation, expression in the fetal brain is prominent in the basal ganglia and the ventricular and subventricular zones and cortical plate of the neocortex, mesencephalon, and rhombencephalon. At 15 and 16 weeks, highly expressed in the ventricular and subventricular zones, respectively. Highly expressed in the ganglionic eminence of 15 week-old brain and subplate of 16 week-old brain. At 20 weeks of gestation, expressed in the ventricular and subventricular zones, intermediate zone, and cortical plate of the neocortex. At 21 weeks of gestation, expressed in the neocortex with highest levels in the cortical plate.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Expression is cell-cycle dependent with highest levels during S phase.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000159147 Expressed in 199 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NYP3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NYP3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039558
HPA049033

<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

Component of the replisome complex composed of at least DONSON, MCM2, MCM7, PCNA and TICRR; interaction at least with PCNA occurs during DNA replication.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119008, 32 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000307143

<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

<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 DONSON family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4734 Eukaryota
ENOG410ZEEQ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000447

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293183

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NYP3

KEGG Orthology (KO)

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KOi
K22422

Identification of Orthologs from Complete Genome Data

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OMAi
LCANTFT

Database of Orthologous Groups

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OrthoDBi
479613at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NYP3

TreeFam database of animal gene trees

More...
TreeFami
TF318976

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR024861 Donson

The PANTHER Classification System

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PANTHERi
PTHR12972 PTHR12972, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR02064 DONSON

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

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

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
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 3 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NYP3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALSVPGYSP GFRKPPEVVR LRRKRARSRG AAASPPRELT EPAARRAALV
60 70 80 90 100
AGLPLRPFPA AGGRGGGSGG GPAAARRNPF ARLDNRPRVA AEPPDGPARE
110 120 130 140 150
QPEAPVPFLD SNQENDLLWE EKFPERTTVT ELPQTSHVSF SEPDIPSSKS
160 170 180 190 200
TELPVDWSIK TRLLFTSSQP FTWADHLKAQ EEAQGLVQHC RATEVTLPKS
210 220 230 240 250
IQDPKLSSEL RCTFQQSLIY WLHPALSWLP LFPRIGADRK MAGKTSPWSN
260 270 280 290 300
DATLQHVLMS DWSVSFTSLY NLLKTKLCPY FYVCTYQFTV LFRAAGLAGS
310 320 330 340 350
DLITALISPT TRGLREAMRN EGIEFSLPLI KESGHKKETA SGTSLGYGEE
360 370 380 390 400
QAISDEDEEE SFSWLEEMGV QDKIKKPDIL SIKLRKEKHE VQMDHRPESV
410 420 430 440 450
VLVKGINTFT LLNFLINSKS LVATSGPQAG LPPTLLSPVA FRGATMQMLK
460 470 480 490 500
ARSVNVKTQA LSGYRDQFSL EITGPIMPHS LHSLTMLLKS SQSGSFSAVL
510 520 530 540 550
YPHEPTAVFN ICLQMDKVLD MEVVHKELTN CGLHPNTLEQ LSQIPLLGKS
560
SLRNVVLRDY IYNWRS
Length:566
Mass (Da):62,747
Last modified:January 11, 2001 - 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:i5421C43C1E2A03F4
GO
Isoform 2 (identifier: Q9NYP3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     263-263: S → Y
     264-566: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:263
Mass (Da):29,069
Checksum:iB827022C0AC004BF
GO
Isoform 3 (identifier: Q9NYP3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     263-265: SVS → HGV
     266-566: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:265
Mass (Da):29,199
Checksum:i74F42297022C0AC0
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JSP0C9JSP0_HUMAN
Protein downstream neighbor of Son
DONSON
508Annotation 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>
C9J4K5C9J4K5_HUMAN
Protein downstream neighbor of Son
DONSON
495Annotation 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>
F8W8A5F8W8A5_HUMAN
Protein downstream neighbor of Son
DONSON
552Annotation 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>
H7C1C1H7C1C1_HUMAN
Protein downstream neighbor of Son
DONSON
537Annotation 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>
F8WD19F8WD19_HUMAN
Protein downstream neighbor of Son
DONSON
210Annotation 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>
H7C304H7C304_HUMAN
Protein downstream neighbor of Son
DONSON
156Annotation 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>
H7C1M7H7C1M7_HUMAN
Protein downstream neighbor of Son
DONSON
235Annotation 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>
H7C006H7C006_HUMAN
Protein downstream neighbor of Son
DONSON
158Annotation 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>
F8WC22F8WC22_HUMAN
Protein downstream neighbor of Son
DONSON
136Annotation 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>
V9GY84V9GY84_HUMAN
Protein downstream neighbor of Son
DONSON
18Annotation score:

Annotation score:1 out of 5

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti224P → L in AAF72948 (PubMed:10773462).Curated1
Sequence conflicti437S → Y in AAF72947 (PubMed:10773462).Curated1
Sequence conflicti557L → Q in BAC11320 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07933028S → R Rare polymorphism; no effect on nuclear localization; complements loss of endogenous DONSON by rescuing the spontaneous fork stalling observed after DONSON depletion. 1 PublicationCorresponds to variant dbSNP:rs768071555EnsemblClinVar.1
Natural variantiVAR_079331278C → R in MISSLA. 1 Publication1
Natural variantiVAR_079332282Y → C in MISSLA; loss of nuclear localization. 1 Publication1
Natural variantiVAR_079333292F → L in MISSLA; loss of nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs779803447EnsemblClinVar.1
Natural variantiVAR_079334293 – 566Missing in MISSLA. 1 PublicationAdd BLAST274
Natural variantiVAR_079335417 – 418Missing in MISSLA; reduced nuclear localization. 1 Publication2
Natural variantiVAR_079336419 – 566Missing in MISSLA. 1 PublicationAdd BLAST148
Natural variantiVAR_079337428 – 566Missing in MISSLA. 1 PublicationAdd BLAST139
Natural variantiVAR_079338433P → S in MISSLA. 1 Publication1
Natural variantiVAR_079339446M → T in MISSLA; reduced protein level; reduced nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs1135401959EnsemblClinVar.1
Natural variantiVAR_079340489K → T in MISSLA; unknown pathological significance; reduced protein level; no effect on nuclear localization; does not complement loss of endogenous DONSON when tested for the rescue of the spontaneous fork stalling observed after DONSON depletion. 1 PublicationCorresponds to variant dbSNP:rs146664036EnsemblClinVar.1
Natural variantiVAR_079341504E → K in MISSLA. 1 PublicationCorresponds to variant dbSNP:rs374688527Ensembl.1
Natural variantiVAR_079342543Q → QK in MISSLA; reduced nuclear localization. 1 Publication1
Natural variantiVAR_079343563 – 566Missing in MISSLA; unknown pathological significance. 1 Publication4

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_004194263 – 265SVS → HGV in isoform 3. 1 Publication3
Alternative sequenceiVSP_004192263S → Y in isoform 2. 1 Publication1
Alternative sequenceiVSP_004193264 – 566Missing in isoform 2. 1 PublicationAdd BLAST303
Alternative sequenceiVSP_004195266 – 566Missing in isoform 3. 1 PublicationAdd BLAST301

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK074964 mRNA Translation: BAC11320.1
AL157441 mRNA Translation: CAB75661.1
BC048266 mRNA Translation: AAH48266.1
AF232673 mRNA Translation: AAF72947.1
AF232674 mRNA Translation: AAF72948.1
AF232675 mRNA Translation: AAF72949.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13632.1 [Q9NYP3-1]

Protein sequence database of the Protein Information Resource

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PIRi
T46933

NCBI Reference Sequences

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RefSeqi
NP_060083.1, NM_017613.3 [Q9NYP3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000303071; ENSP00000307143; ENSG00000159147 [Q9NYP3-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
29980

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:29980

UCSC genome browser

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UCSCi
uc002ysk.5 human [Q9NYP3-1]

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
AK074964 mRNA Translation: BAC11320.1
AL157441 mRNA Translation: CAB75661.1
BC048266 mRNA Translation: AAH48266.1
AF232673 mRNA Translation: AAF72947.1
AF232674 mRNA Translation: AAF72948.1
AF232675 mRNA Translation: AAF72949.1
CCDSiCCDS13632.1 [Q9NYP3-1]
PIRiT46933
RefSeqiNP_060083.1, NM_017613.3 [Q9NYP3-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi119008, 32 interactors
STRINGi9606.ENSP00000307143

PTM databases

iPTMnetiQ9NYP3
PhosphoSitePlusiQ9NYP3

Polymorphism and mutation databases

BioMutaiDONSON

Proteomic databases

EPDiQ9NYP3
jPOSTiQ9NYP3
MaxQBiQ9NYP3
PaxDbiQ9NYP3
PeptideAtlasiQ9NYP3
PRIDEiQ9NYP3
ProteomicsDBi83256
83257 [Q9NYP3-2]
83258 [Q9NYP3-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303071; ENSP00000307143; ENSG00000159147 [Q9NYP3-1]
GeneIDi29980
KEGGihsa:29980
UCSCiuc002ysk.5 human [Q9NYP3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
29980
DisGeNETi29980

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DONSON
HGNCiHGNC:2993 DONSON
HPAiHPA039558
HPA049033
MalaCardsiDONSON
MIMi251230 phenotype
611428 gene
617604 phenotype
neXtProtiNX_Q9NYP3
OpenTargetsiENSG00000159147
PharmGKBiPA27459

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4734 Eukaryota
ENOG410ZEEQ LUCA
GeneTreeiENSGT00390000000447
HOGENOMiHOG000293183
InParanoidiQ9NYP3
KOiK22422
OMAiLCANTFT
OrthoDBi479613at2759
PhylomeDBiQ9NYP3
TreeFamiTF318976

Miscellaneous databases

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

More...
ChiTaRSi
DONSON human

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

More...
GenomeRNAii
29980

Protein Ontology

More...
PROi
PR:Q9NYP3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000159147 Expressed in 199 organ(s), highest expression level in right testis
ExpressionAtlasiQ9NYP3 baseline and differential
GenevisibleiQ9NYP3 HS

Family and domain databases

InterProiView protein in InterPro
IPR024861 Donson
PANTHERiPTHR12972 PTHR12972, 1 hit
PRINTSiPR02064 DONSON

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDONS_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: Q9NYP3
Secondary accession number(s): Q8NC53
, Q9NSR9, Q9NVZ5, Q9NYP1, Q9NYP2
<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: January 11, 2001
Last sequence update: January 11, 2001
Last modified: May 8, 2019
This is version 135 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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