DONSON
entrez
29980
canonical
uniprot
Q9NYP3
canonical
ensembl
ENSG00000159147
resolver
ensp
ENSP00000307143
resolver
genesymbol
DONSON
resolver
genesymbol_syn
C21orf60
resolver
hgnc
HGNC:2993
resolver
uniprot
Q8NC53
resolver
uniprot
Q9NSR9
resolver
uniprot
Q9NVZ5
resolver
uniprot
Q9NYP1
resolver
uniprot
Q9NYP2
resolver
uniprot_entry
DONS_HUMAN
resolver
uniprot_sec
Q8NC53
resolver
uniprot_sec
Q9NSR9
resolver
uniprot_sec
Q9NVZ5
resolver
uniprot_sec
Q9NYP1
resolver
uniprot_sec
Q9NYP2
resolver
amino_acid_sequence
MALSVPGYSPGFRKPPEVVRLRRKRARSRGAAASPPRELTEPAARRAALVAGLPLRPFPAAGGRGGGSGGGPAAARRNPFARLDNRPRVAAEPPDGPAREQPEAPVPFLDSNQENDLLWEEKFPERTTVTELPQTSHVSFSEPDIPSSKSTELPVDWSIKTRLLFTSSQPFTWADHLKAQEEAQGLVQHCRATEVTLPKSIQDPKLSSELRCTFQQSLIYWLHPALSWLPLFPRIGADRKMAGKTSPWSNDATLQHVLMSDWSVSFTSLYNLLKTKLCPYFYVCTYQFTVLFRAAGLAGSDLITALISPTTRGLREAMRNEGIEFSLPLIKESGHKKETASGTSLGYGEEQAISDEDEEESFSWLEEMGVQDKIKKPDILSIKLRKEKHEVQMDHRPESVVLVKGINTFTLLNFLINSKSLVATSGPQAGLPPTLLSPVAFRGATMQMLKARSVNVKTQALSGYRDQFSLEITGPIMPHSLHSLTMLLKSSQSGSFSAVLYPHEPTAVFNICLQMDKVLDMEVVHKELTNCGLHPNTLEQLSQIPLLGKSSLRNVVLRDYIYNWRS
uniprot
proteins
disease_involvement
DISEASE: Microcephaly-micromelia syndrome (MIMIS) [MIM:251230]: A 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. {ECO:0000269|PubMed:28630177}. Note=The disease is caused by variants 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. {ECO:0000269|PubMed:28630177}.; DISEASE: Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]: An 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. {ECO:0000269|PubMed:28191891}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Meier-Gorlin syndrome 10 (MGORS10) [MIM:621528]: A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. Some MGORS10 patients may have delayed motor or speech development. MGORS10 inheritance is autosomal recessive. {ECO:0000269|PubMed:28191891, ECO:0000269|PubMed:31407851, ECO:0000269|PubMed:31784481, ECO:0000269|PubMed:35298084, ECO:0000269|PubMed:41612845}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:28191891}.
uniprot
proteins
mass_dalton
62747
uniprot
proteins
protein_family
DONSON family
uniprot
proteins
pubmed
10773462
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28191891
uniprot
proteins
pubmed
28630177
uniprot
proteins
pubmed
31407851
uniprot
proteins
pubmed
31784481
uniprot
proteins
pubmed
35298084
uniprot
proteins
pubmed
41612845
uniprot
proteins
sequence_length
566
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28191891}. Note=Localizes at DNA replication sites. {ECO:0000269|PubMed:28191891}.
uniprot
proteins