GINS1
entrez
9837
canonical
uniprot
Q14691
canonical
ensembl
ENSG00000101003
resolver
ensp
ENSP00000262460
resolver
ensp
ENSP00000512869
resolver
ensp
ENSP00000512884
resolver
ensp
ENSP00000512885
resolver
ensp
ENSP00000512943
resolver
ensp
ENSP00000730956
resolver
enst
ENST00000262460
resolver
enst
ENST00000484893
resolver
enst
ENST00000696804
resolver
enst
ENST00000696806
resolver
enst
ENST00000696874
resolver
genesymbol
GINS1
resolver
genesymbol_syn
KIAA0186
resolver
genesymbol_syn
PSF1
resolver
hgnc
HGNC:28980
resolver
uniprot
A0A8Q3WLJ3
resolver
uniprot
A0A8Q3WLK7
resolver
uniprot
A0A8Q3WLL7
resolver
uniprot
Q9NQE2
resolver
uniprot
Q9NQI7
resolver
uniprot_entry
A0A8Q3WLJ3_HUMAN
resolver
uniprot_entry
A0A8Q3WLK7_HUMAN
resolver
uniprot_entry
A0A8Q3WLL7_HUMAN
resolver
uniprot_entry
PSF1_HUMAN
resolver
uniprot_sec
Q9NQE2
resolver
uniprot_sec
Q9NQI7
resolver
amino_acid_sequence
MFCEKAMELIRELHRAPEGQLPAFNEDGLRQVLEEMKALYEQNQSDVNEAKSGGRSDLIPTIKFRHCSLLRNRRCTVAYLYDRLLRIRALRWEYGSVLPNALRFHMAAEEMEWFNNYKRSLATYMRSLGGDEGLDITQDMKPPKSLYIEVRCLKDYGEFEVDDGTSVLLKKNSQHFLPRWKCEQLIRQGVLEHILS
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 55 (IMD55) [MIM:617827]: An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients. {ECO:0000269|PubMed:28414293}. 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). 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}.
uniprot
proteins
mass_dalton
22988
uniprot
proteins
protein_family
GINS1/PSF1 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17417653
uniprot
proteins
pubmed
17545466
uniprot
proteins
pubmed
17557111
uniprot
proteins
pubmed
17611626
uniprot
proteins
pubmed
17652513
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
28414293
uniprot
proteins
pubmed
32453425
uniprot
proteins
pubmed
34694004
uniprot
proteins
pubmed
34700328
uniprot
proteins
pubmed
35585232
uniprot
proteins
pubmed
8724849
uniprot
proteins
sequence_length
196
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:35585232}. Chromosome {ECO:0000305|PubMed:35585232}. Note=Associates with chromatin. {ECO:0000305|PubMed:35585232}.
uniprot
proteins