Entity Details

Primary name PSF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14691
EntryNamePSF1_HUMAN
FullNameDNA replication complex GINS protein PSF1
TaxID9606
Evidenceevidence at protein level
Length196
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesGINS1

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

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR005339 GINS complex, subunit Psf1FamilyFamily
IPR036224 GINS, helical bundle-like domain superfamilyFamilyHomologous superfamily

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.