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Aliases for GINS1 Gene

Aliases for GINS1 Gene

  • GINS Complex Subunit 1 2 3 4 5
  • GINS Complex Subunit 1 (Psf1 Homolog) 2 3
  • PSF1 3 4
  • DNA Replication Complex GINS Protein PSF1 3
  • Partner Of Sld Five-1 3
  • KIAA0186 4

External Ids for GINS1 Gene

Previous GeneCards Identifiers for GINS1 Gene

  • GC20P025329

Summaries for GINS1 Gene

Entrez Gene Summary for GINS1 Gene

  • The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]

GeneCards Summary for GINS1 Gene

GINS1 (GINS Complex Subunit 1) is a Protein Coding gene. Diseases associated with GINS1 include Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive. Among its related pathways are Cell Cycle, Mitotic and Telomere C-strand (Lagging Strand) Synthesis.

UniProtKB/Swiss-Prot for GINS1 Gene

  • The GINS complex 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. GINS1 is essential for function.

Gene Wiki entry for GINS1 Gene

Additional gene information for GINS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GINS1 Gene

Genomics for GINS1 Gene

Regulatory Elements for GINS1 Gene

Enhancers for GINS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H025321 1 FANTOM5 ENCODE dbSUPER 12.1 -85.7 -85690 1 ZFHX2 EGR2 ABHD12 GINS1 PYGB NANP GC20P025297 GC20P025348
GH20H025375 0.9 dbSUPER 13.3 -29.9 -29915 4 ELF3 FOXA2 ATF1 MLX ARID4B DMAP1 THRB ZSCAN9 RARA SLC30A9 ABHD12 PYGB GINS1 NINL ZNF337 PPIAP2
GH20H025089 1.1 FANTOM5 ENCODE dbSUPER 1.3 -316.3 -316264 2 GLIS1 ZIC2 ZNF18 ACSS1 VSX1 PYGB GINS1 LOC391239
GH20H025397 1.1 Ensembl ENCODE 0.4 -9.0 -9023 2 ELF3 PKNOX1 ATF1 RAD21 YY1 ZSCAN5C ZNF143 FOS MIXL1 THAP11 ABHD12 PYGB ENTPD6 ZNF337 PIR58540 GINS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GINS1 on UCSC Golden Path with GeneCards custom track

Promoters for GINS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000135844 456 1401 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF143

Genomic Location for GINS1 Gene

Chromosome:
20
Start:
25,407,444 bp from pter
End:
25,452,628 bp from pter
Size:
45,185 bases
Orientation:
Plus strand

Genomic View for GINS1 Gene

Genes around GINS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GINS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GINS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GINS1 Gene

Proteins for GINS1 Gene

  • Protein details for GINS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14691-PSF1_HUMAN
    Recommended name:
    DNA replication complex GINS protein PSF1
    Protein Accession:
    Q14691
    Secondary Accessions:
    • Q9NQE2
    • Q9NQI7

    Protein attributes for GINS1 Gene

    Size:
    196 amino acids
    Molecular mass:
    22988 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAA11503.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GINS1 Gene

neXtProt entry for GINS1 Gene

Post-translational modifications for GINS1 Gene

  • Ubiquitination at posLast=5151 and posLast=6363
  • Modification sites at PhosphoSitePlus

Other Protein References for GINS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GINS1 Gene

Domains & Families for GINS1 Gene

Gene Families for GINS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GINS1 Gene

Suggested Antigen Peptide Sequences for GINS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14691

UniProtKB/Swiss-Prot:

PSF1_HUMAN :
  • Belongs to the GINS1/PSF1 family.
Family:
  • Belongs to the GINS1/PSF1 family.
genes like me logo Genes that share domains with GINS1: view

Function for GINS1 Gene

Molecular function for GINS1 Gene

UniProtKB/Swiss-Prot Function:
The GINS complex 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. GINS1 is essential for function.
UniProtKB/Swiss-Prot Induction:
Significantly up-regulated in aggressive melanomas.

Gene Ontology (GO) - Molecular Function for GINS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043138 3-5 DNA helicase activity IBA --
genes like me logo Genes that share ontologies with GINS1: view
genes like me logo Genes that share phenotypes with GINS1: view

Animal Models for GINS1 Gene

MGI Knock Outs for GINS1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GINS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GINS1 Gene

Localization for GINS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GINS1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GINS1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GINS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000811 GINS complex IBA --
GO:0005634 nucleus IDA,IEA 10942595
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 10942595
genes like me logo Genes that share ontologies with GINS1: view

Pathways & Interactions for GINS1 Gene

genes like me logo Genes that share pathways with GINS1: view

Pathways by source for GINS1 Gene

Gene Ontology (GO) - Biological Process for GINS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001833 inner cell mass cell proliferation IEA --
GO:0006260 DNA replication IEA --
GO:0006271 DNA strand elongation involved in DNA replication TAS --
GO:0032508 DNA duplex unwinding IEA --
GO:1902983 DNA strand elongation involved in mitotic DNA replication IBA --
genes like me logo Genes that share ontologies with GINS1: view

No data available for SIGNOR curated interactions for GINS1 Gene

Drugs & Compounds for GINS1 Gene

No Compound Related Data Available

Transcripts for GINS1 Gene

Unigene Clusters for GINS1 Gene

GINS complex subunit 1 (Psf1 homolog):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GINS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GINS1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: -
SP5: - - - - -
SP6: - - - - - - - -
SP7:
SP8:

Relevant External Links for GINS1 Gene

GeneLoc Exon Structure for
GINS1
ECgene alternative splicing isoforms for
GINS1

Expression for GINS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GINS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GINS1 Gene

This gene is overexpressed in Testis (x7.9).

Protein differential expression in normal tissues from HIPED for GINS1 Gene

This gene is overexpressed in Lung (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GINS1 Gene



NURSA nuclear receptor signaling pathways regulating expression of GINS1 Gene:

GINS1

SOURCE GeneReport for Unigene cluster for GINS1 Gene:

Hs.658464

Evidence on tissue expression from TISSUES for GINS1 Gene

  • Bone marrow(4.1)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with GINS1: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GINS1 Gene

Orthologs for GINS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GINS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GINS1 33 34
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
GINS1 33
  • 89.97 (n)
cow
(Bos Taurus)
Mammalia GINS1 34
  • 93 (a)
OneToOne
LOC523427 33
  • 88.78 (n)
oppossum
(Monodelphis domestica)
Mammalia GINS1 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gins1 33 16 34
  • 88.44 (n)
rat
(Rattus norvegicus)
Mammalia Gins1 33
  • 88.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves GINS1 33 34
  • 71.97 (n)
lizard
(Anolis carolinensis)
Reptilia GINS1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gins1 33
  • 78.74 (n)
Str.20188 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23934 33
zebrafish
(Danio rerio)
Actinopterygii gins1 33 34
  • 73.64 (n)
Dr.8483 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.769 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010835 33
  • 53.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Psf1 33 34
  • 52.5 (n)
CG32318 34
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R53.6 33
  • 50 (n)
psf-1 34
  • 38 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSF1 34 36
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons PSF1 33
  • 42.86 (n)
rice
(Oryza sativa)
Liliopsida Os05g0453800 33
  • 48.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10775 34
  • 61 (a)
OneToOne
Species where no ortholog for GINS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GINS1 Gene

ENSEMBL:
Gene Tree for GINS1 (if available)
TreeFam:
Gene Tree for GINS1 (if available)

Paralogs for GINS1 Gene

(9) SIMAP similar genes for GINS1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GINS1: view

No data available for Paralogs for GINS1 Gene

Variants for GINS1 Gene

Sequence variations from dbSNP and Humsavar for GINS1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000008557 -- 25,444,550(+) GTTTG(C/T)GAGGC intron-variant
rs1000049933 -- 25,408,509(+) TCACT(A/G)CTACC intron-variant, upstream-variant-2KB
rs1000126464 -- 25,409,350(+) GCTGA(C/T)AGAGC intron-variant, upstream-variant-2KB
rs1000281365 -- 25,431,988(+) ACAGC(C/T)TCCCA intron-variant
rs1000308380 -- 25,425,439(+) AGAAG(C/T)ATAGA intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for GINS1 Gene

Variant ID Type Subtype PubMed ID
dgv4290n100 CNV gain 25217958
esv2676461 CNV deletion 23128226
esv3645586 CNV loss 21293372
esv3893324 CNV gain 25118596
nsv1059494 CNV gain 25217958
nsv1067379 CNV gain 25217958
nsv472650 CNV novel sequence insertion 20440878
nsv522873 CNV gain 19592680
nsv585746 CNV gain 21841781
nsv833948 CNV loss 17160897

Variation tolerance for GINS1 Gene

Residual Variation Intolerance Score: 55.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GINS1 Gene

Human Gene Mutation Database (HGMD)
GINS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GINS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GINS1 Gene

Disorders for GINS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GINS1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 4, autosomal dominant or recessive
  • retinitis pigmentosa 4
- elite association - COSMIC cancer census association via MalaCards
Search GINS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GINS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GINS1
genes like me logo Genes that share disorders with GINS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GINS1 Gene

Publications for GINS1 Gene

  1. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 60
  2. Structure of the human GINS complex and its assembly and functional interface in replication initiation. (PMID: 17417653) Kamada K … Hanaoka F (Nature structural & molecular biology 2007) 3 4 60
  3. A combined computational and experimental study on the structure-regulation relationships of putative mammalian DNA replication initiator GINS. (PMID: 17127213) Hayashi R … Yoshida K (Genomics, proteomics & bioinformatics 2006) 3 22 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60

Products for GINS1 Gene

Sources for GINS1 Gene

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