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Protein

DNA replication complex GINS protein PSF1

Gene

GINS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. GINS complex seems to bind preferentially to single-stranded DNA.2 Publications

GO - Molecular functioni

  • 3'-5' DNA helicase activity Source: GO_Central

GO - Biological processi

Keywordsi

Biological processDNA replication

Enzyme and pathway databases

ReactomeiR-HSA-176974 Unwinding of DNA

Names & Taxonomyi

Protein namesi
Recommended name:
DNA replication complex GINS protein PSF1
Alternative name(s):
GINS complex subunit 1
Gene namesi
Name:GINS1
Synonyms:KIAA0186, PSF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101003.9
HGNCiHGNC:28980 GINS1
MIMi610608 gene
neXtProtiNX_Q14691

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency 55 (IMD55)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:617827
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08061983R → C in IMD55; lower GINS1 protein levels and defective DNA replication are observed in patient cells; the mutant does not interact with GINS3 and GINS4. 1 Publication1
Natural variantiVAR_080620152C → Y in IMD55; lower GINS1 protein levels and defective DNA replication are observed in patient cells. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9837
MalaCardsiGINS1
MIMi617827 phenotype
OpenTargetsiENSG00000101003
Orphaneti505227 Combined immunodeficiency due to GINS1 deficiency
PharmGKBiPA145008291

Polymorphism and mutation databases

BioMutaiGINS1
DMDMi6226339

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002190351 – 196DNA replication complex GINS protein PSF1Add BLAST196

Proteomic databases

EPDiQ14691
MaxQBiQ14691
PaxDbiQ14691
PeptideAtlasiQ14691
PRIDEiQ14691
ProteomicsDBi60129

PTM databases

iPTMnetiQ14691
PhosphoSitePlusiQ14691

Expressioni

Inductioni

Significantly up-regulated in aggressive melanomas.1 Publication

Gene expression databases

BgeeiENSG00000101003 Expressed in 171 organ(s), highest expression level in oocyte
CleanExiHS_GINS1
GenevisibleiQ14691 HS

Organism-specific databases

HPAiHPA051185

Interactioni

Subunit structurei

Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4. Forms a stable subcomplex with GINS4. GINS complex interacts with DNA primase in vitro.4 Publications

Protein-protein interaction databases

BioGridi115174, 15 interactors
CORUMiQ14691
DIPiDIP-29331N
IntActiQ14691, 3 interactors
STRINGi9606.ENSP00000262460

Structurei

Secondary structure

1196
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ14691
SMRiQ14691
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14691

Family & Domainsi

Sequence similaritiesi

Belongs to the GINS1/PSF1 family.Curated

Phylogenomic databases

eggNOGiKOG3303 Eukaryota
COG5230 LUCA
GeneTreeiENSGT00390000013968
HOGENOMiHOG000192102
HOVERGENiHBG053743
InParanoidiQ14691
KOiK10732
OMAiHLCMRRN
OrthoDBiEOG091G0M3U
PhylomeDBiQ14691
TreeFamiTF312848

Family and domain databases

CDDicd11710 GINS_A_psf1, 1 hit
InterProiView protein in InterPro
IPR036224 GINS_bundle-like_dom_sf
IPR005339 GINS_Psf1
PANTHERiPTHR12914 PTHR12914, 1 hit
SUPFAMiSSF158573 SSF158573, 1 hit

Sequencei

Sequence statusi: Complete.

Q14691-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFCEKAMELI RELHRAPEGQ LPAFNEDGLR QVLEEMKALY EQNQSDVNEA
60 70 80 90 100
KSGGRSDLIP TIKFRHCSLL RNRRCTVAYL YDRLLRIRAL RWEYGSVLPN
110 120 130 140 150
ALRFHMAAEE MEWFNNYKRS LATYMRSLGG DEGLDITQDM KPPKSLYIEV
160 170 180 190
RCLKDYGEFE VDDGTSVLLK KNSQHFLPRW KCEQLIRQGV LEHILS
Length:196
Mass (Da):22,988
Last modified:November 1, 1996 - v1
Checksum:i2270B5CE6C43BFE5
GO

Sequence cautioni

The sequence BAA11503 differs from that shown. Reason: Erroneous initiation.Curated

Mass spectrometryi

Molecular mass is 98373±13 Da from positions 1 - 196. Determined by ESI. This is the measured mass for the GINS complex.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08061983R → C in IMD55; lower GINS1 protein levels and defective DNA replication are observed in patient cells; the mutant does not interact with GINS3 and GINS4. 1 Publication1
Natural variantiVAR_05160697V → I1 PublicationCorresponds to variant dbSNP:rs6076347Ensembl.1
Natural variantiVAR_080620152C → Y in IMD55; lower GINS1 protein levels and defective DNA replication are observed in patient cells. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D80008 mRNA Translation: BAA11503.2 Different initiation.
AL353812 Genomic DNA No translation available.
AL031672 Genomic DNA No translation available.
BC012542 mRNA Translation: AAH12542.1
CCDSiCCDS33451.1
RefSeqiNP_066545.3, NM_021067.4
UniGeneiHs.658464

Genome annotation databases

EnsembliENST00000262460; ENSP00000262460; ENSG00000101003
GeneIDi9837
KEGGihsa:9837
UCSCiuc002wuv.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D80008 mRNA Translation: BAA11503.2 Different initiation.
AL353812 Genomic DNA No translation available.
AL031672 Genomic DNA No translation available.
BC012542 mRNA Translation: AAH12542.1
CCDSiCCDS33451.1
RefSeqiNP_066545.3, NM_021067.4
UniGeneiHs.658464

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E9XX-ray2.30A/E1-149[»]
2EHOX-ray3.00B/F/J1-151[»]
2Q9QX-ray2.36C/G1-196[»]
ProteinModelPortaliQ14691
SMRiQ14691
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115174, 15 interactors
CORUMiQ14691
DIPiDIP-29331N
IntActiQ14691, 3 interactors
STRINGi9606.ENSP00000262460

PTM databases

iPTMnetiQ14691
PhosphoSitePlusiQ14691

Polymorphism and mutation databases

BioMutaiGINS1
DMDMi6226339

Proteomic databases

EPDiQ14691
MaxQBiQ14691
PaxDbiQ14691
PeptideAtlasiQ14691
PRIDEiQ14691
ProteomicsDBi60129

Protocols and materials databases

DNASUi9837
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262460; ENSP00000262460; ENSG00000101003
GeneIDi9837
KEGGihsa:9837
UCSCiuc002wuv.2 human

Organism-specific databases

CTDi9837
DisGeNETi9837
EuPathDBiHostDB:ENSG00000101003.9
GeneCardsiGINS1
HGNCiHGNC:28980 GINS1
HPAiHPA051185
MalaCardsiGINS1
MIMi610608 gene
617827 phenotype
neXtProtiNX_Q14691
OpenTargetsiENSG00000101003
Orphaneti505227 Combined immunodeficiency due to GINS1 deficiency
PharmGKBiPA145008291
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3303 Eukaryota
COG5230 LUCA
GeneTreeiENSGT00390000013968
HOGENOMiHOG000192102
HOVERGENiHBG053743
InParanoidiQ14691
KOiK10732
OMAiHLCMRRN
OrthoDBiEOG091G0M3U
PhylomeDBiQ14691
TreeFamiTF312848

Enzyme and pathway databases

ReactomeiR-HSA-176974 Unwinding of DNA

Miscellaneous databases

ChiTaRSiGINS1 human
EvolutionaryTraceiQ14691
GeneWikiiGINS1
GenomeRNAii9837
PROiPR:Q14691
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101003 Expressed in 171 organ(s), highest expression level in oocyte
CleanExiHS_GINS1
GenevisibleiQ14691 HS

Family and domain databases

CDDicd11710 GINS_A_psf1, 1 hit
InterProiView protein in InterPro
IPR036224 GINS_bundle-like_dom_sf
IPR005339 GINS_Psf1
PANTHERiPTHR12914 PTHR12914, 1 hit
SUPFAMiSSF158573 SSF158573, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPSF1_HUMAN
AccessioniPrimary (citable) accession number: Q14691
Secondary accession number(s): Q9NQE2, Q9NQI7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 159 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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