GINS3
entrez
64785
canonical
uniprot
Q9BRX5
canonical
ensembl
ENSG00000181938
resolver
ensp
ENSP00000318196
resolver
ensp
ENSP00000327449
resolver
ensp
ENSP00000401018
resolver
genesymbol
GINS3
resolver
genesymbol_syn
PSF3
resolver
hgnc
HGNC:25851
resolver
uniprot
A0A0S2Z5L0
resolver
uniprot
A0A0S2Z5L4
resolver
uniprot
A0A0S2Z5P2
resolver
uniprot
B2RDP3
resolver
uniprot
E9PB21
resolver
uniprot
Q9H870
resolver
uniprot_entry
A0A0S2Z5L0_HUMAN
resolver
uniprot_entry
A0A0S2Z5L4_HUMAN
resolver
uniprot_entry
A0A0S2Z5P2_HUMAN
resolver
uniprot_entry
PSF3_HUMAN
resolver
uniprot_sec
B2RDP3
resolver
uniprot_sec
E9PB21
resolver
uniprot_sec
Q9H870
resolver
amino_acid_sequence
MSEAYFRVESGALGPEENFLSLDDILMSHEKLPVRTETAMPRLGAFFLERSAGAETDNAVPQGSKLELPLWLAKGLFDNKRRILSVELPKIYQEGWRTVFSADPNVVDLHKMGPHFYGFGSQLLHFDSPENADISQSLLQTFIGRFRRIMDSSQNAYNEDTSALVARLDEMERGLFQTGQKGLNDFQCWEKGQASQITASNLVQNYKKRKFTDMED
uniprot
proteins
disease_involvement
DISEASE: Meier-Gorlin syndrome 9 (MGORS9) [MIM:621512]: 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. MGORS9 inheritance is autosomal recessive. {ECO:0000269|PubMed:35603789, ECO:0000269|PubMed:38773883}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653, PubMed:28414293, PubMed:35603789). GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232). {ECO:0000269|PubMed:17417653, ECO:0000269|PubMed:28414293, ECO:0000269|PubMed:32453425, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:34700328, ECO:0000269|PubMed:35585232, ECO:0000269|PubMed:35603789}.
uniprot
proteins
mass_dalton
24535
uniprot
proteins
mutagenesis
MUTAGEN 24; /note="D->G: Impaired DNA replication. Increased protein degradation and decreased protein stability."; /evidence="ECO:0000269|PubMed:35603789
uniprot
proteins
protein_family
GINS3/PSF3 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17170760
uniprot
proteins
pubmed
17417653
uniprot
proteins
pubmed
17545466
uniprot
proteins
pubmed
17557111
uniprot
proteins
pubmed
17652513
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
28414293
uniprot
proteins
pubmed
32453425
uniprot
proteins
pubmed
34694004
uniprot
proteins
pubmed
34700328
uniprot
proteins
pubmed
35585232
uniprot
proteins
pubmed
35603789
uniprot
proteins
pubmed
38773883
uniprot
proteins
sequence_length
216
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:35603789}. Chromosome {ECO:0000305|PubMed:35585232}. Note=Associates with chromatin. {ECO:0000305|PubMed:35585232}.
uniprot
proteins