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Protein

Protein downstream neighbor of Son

Gene

DONSON

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

  • DNA damage checkpoint Source: UniProtKB
  • DNA replication Source: UniProtKB
  • mitotic G2 DNA damage checkpoint Source: UniProtKB
  • multicellular organism development Source: UniProtKB-KW
  • nuclear DNA replication Source: GO_Central
  • replication fork protection Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Protein downstream neighbor of Son
Alternative name(s):
B17
Gene namesi
Name:DONSON
Synonyms:C21orf60
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000159147.17
HGNCiHGNC:2993 DONSON
MIMi611428 gene
neXtProtiNX_Q9NYP3

Subcellular locationi

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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
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 Publication1
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

DisGeNETi29980
MalaCardsiDONSON
MIMi251230 phenotype
617604 phenotype
OpenTargetsiENSG00000159147
PharmGKBiPA27459

Polymorphism and mutation databases

BioMutaiDONSON

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000799791 – 566Protein downstream neighbor of SonAdd BLAST566

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei28PhosphoserineCombined sources1
Modified residuei34PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NYP3
PaxDbiQ9NYP3
PeptideAtlasiQ9NYP3
PRIDEiQ9NYP3

PTM databases

iPTMnetiQ9NYP3
PhosphoSitePlusiQ9NYP3

Expressioni

Tissue specificityi

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

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

Inductioni

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

Gene expression databases

BgeeiENSG00000159147
CleanExiHS_DONSON
ExpressionAtlasiQ9NYP3 baseline and differential
GenevisibleiQ9NYP3 HS

Organism-specific databases

HPAiHPA039558
HPA049033

Interactioni

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

BioGridi119008, 3 interactors
STRINGi9606.ENSP00000307143

Structurei

3D structure databases

ProteinModelPortaliQ9NYP3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DONSON family.Curated

Phylogenomic databases

eggNOGiKOG4734 Eukaryota
ENOG410ZEEQ LUCA
GeneTreeiENSGT00390000000447
HOGENOMiHOG000293183
HOVERGENiHBG005518
InParanoidiQ9NYP3
KOiK22422
OMAiQQSLVYW
OrthoDBiEOG091G0MNB
PhylomeDBiQ9NYP3
TreeFamiTF318976

Family and domain databases

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Experimental confirmation may be lacking for some isoforms.
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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 Publication1
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
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:
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]
UniGeneiHs.436341

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDONS_HUMAN
AccessioniPrimary (citable) accession number: Q9NYP3
Secondary accession number(s): Q8NC53
, Q9NSR9, Q9NVZ5, Q9NYP1, Q9NYP2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: January 11, 2001
Last modified: May 23, 2018
This is version 128 of the entry and version 2 of the sequence. See complete history.
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.

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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

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