Entity Details

Primary name GINS1
Entity type gene
Source Source Link

Details

PrimaryID9837
RefseqGene
SymbolGINS1
NameGINS complex subunit 1
Chromosome20
Location20p11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPSF1_HUMAN

GO terms

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GOName
GO:0000811 GINS complex
GO:0001833 inner cell mass cell proliferation
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006271 DNA strand elongation involved in DNA replication
GO:0071162 CMG complex
GO:1902983 DNA strand elongation involved in mitotic DNA replication

Diseases

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Disease IDSourceNameDescription
617827 OMIMImmunodeficiency 55 (IMD55)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. The disease is caused by variants affecting the gene represented in this entry.