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GINS1 GINS complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 9837, updated on 12-Jan-2019

Summary

Official Symbol
GINS1provided by HGNC
Official Full Name
GINS complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:28980
See related
Ensembl:ENSG00000101003 MIM:610608
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PSF1; IMD55
Summary
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]
Expression
Broad expression in testis (RPKM 4.5), lymph node (RPKM 2.0) and 19 other tissues See more
Orthologs

Genomic context

See GINS1 in Genome Data Viewer
Location:
20p11.21
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (25407470..25448568)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (25388323..25429191)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene glycogen phosphorylase B Neighboring gene abhydrolase domain containing 12 Neighboring gene uncharacterized LOC105372581 Neighboring gene peptidylprolyl isomerase A pseudogene 2 Neighboring gene ninein like Neighboring gene RNA, U6atac small nuclear 17, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
IMMUNODEFICIENCY 55
MedGen: C4693356 OMIM: 617827 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • DNA Replication, organism-specific biosystem (from REACTOME)
    DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
  • DNA strand elongation, organism-specific biosystem (from REACTOME)
    DNA strand elongation, organism-specific biosystemAccurate and efficient genome duplication requires coordinated processes to replicate two template strands at eucaryotic replication forks. Knowledge of the fundamental reactions involved in replicat...
  • GINS complex, organism-specific biosystem (from KEGG)
    GINS complex, organism-specific biosystemStructural complex; Genetic information processing; Replication system
  • GINS complex, conserved biosystem (from KEGG)
    GINS complex, conserved biosystemStructural complex; Genetic information processing; Replication system
  • S Phase, organism-specific biosystem (from REACTOME)
    S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...
  • Synthesis of DNA, organism-specific biosystem (from REACTOME)
    Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
  • Unwinding of DNA, organism-specific biosystem (from REACTOME)
    Unwinding of DNA, organism-specific biosystemDNA Replication is regulated accurately and precisely by various protein complexes. Many members of the MCM protein family are assembled into the pre-Replication Complexes (pre-RC) at the end of M ph...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0186

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA strand elongation involved in DNA replication TAS
Traceable Author Statement
more info
 
DNA strand elongation involved in mitotic DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GINS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA replication complex GINS protein PSF1
Names
GINS complex subunit 1 (Psf1 homolog)
partner of sld five-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021067.5NP_066545.3  DNA replication complex GINS protein PSF1

    See identical proteins and their annotated locations for NP_066545.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    AL031672, AL353812, BP290581, D80008
    Consensus CDS
    CCDS33451.1
    UniProtKB/Swiss-Prot
    Q14691
    Related
    ENSP00000262460.4, ENST00000262460.4
    Conserved Domains (1) summary
    cd11710
    Location:3130
    GINS_A_psf1; Alpha-helical domain of GINS complex protein Psf1

RNA

  1. NR_134574.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK294593, AL031672, AL353812, BP290581

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    25407470..25448568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028162.1XP_016883651.1  DNA replication complex GINS protein PSF1 isoform X1

    Conserved Domains (2) summary
    cd11710
    Location:195
    GINS_A_psf1; Alpha-helical domain of GINS complex protein Psf1
    COG5230
    Location:36159
    COG5230; Uncharacterized conserved protein [Function unknown]

RNA

  1. XR_244227.4 RNA Sequence

  2. XR_937180.2 RNA Sequence

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