Seroatlas · Human Serome Atlas

GINS1

DNA replication complex GINS protein PSF1

Also known as: KIAA0186, PSF1, PSF1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q14691
Gene
GINS1
Ensembl
ENSG00000101003
Chromosome
20
Canonical length
196 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

196 residues, UniProt reviewed canonical sequence.

>Q14691|GINS1
     1  MFCEKAMELI RELHRAPEGQ LPAFNEDGLR QVLEEMKALY EQNQSDVNEA KSGGRSDLIP
    61  TIKFRHCSLL RNRRCTVAYL YDRLLRIRAL RWEYGSVLPN ALRFHMAAEE MEWFNNYKRS
   121  LATYMRSLGG DEGLDITQDM KPPKSLYIEV RCLKDYGEFE VDDGTSVLLK KNSQHFLPRW
   181  KCEQLIRQGV LEHILS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GINS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
8.3 nTPM

Expression across tissuesHPA

Tissue

  • testis: 8.3 nTPM
  • thymus: 6.8 nTPM
  • tonsil: 5.4 nTPM
  • lymph node: 4.8 nTPM
  • esophagus: 4 nTPM
  • bone marrow: 3.7 nTPM

Single-cell type

  • early spermatids: 101 nCPM
  • late primary spermatocytes: 74 nCPM
  • early primary spermatocytes: 66 nCPM
  • erythrocyte progenitors: 56 nCPM
  • differentiating spermatogonia: 52 nCPM
  • megakaryocyte progenitors: 49 nCPM

Immune cell

  • T-reg: 1 nTPM
  • memory B-cell: 0.8 nTPM
  • myeloid DC: 0.5 nTPM
  • naive B-cell: 0.5 nTPM
  • plasmacytoid DC: 0.5 nTPM
  • NK-cell: 0.4 nTPM

Brain region

  • cerebellum: 5.3 nTPM
  • white matter: 4.8 nTPM
  • thalamus: 4.4 nTPM
  • cerebral cortex: 4.3 nTPM
  • pons: 4.2 nTPM
  • basal ganglia: 4.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GINS1.

Disease | AllUniProt

Conditions GINS1 is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 204 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Combined immunodeficiency due to GINS1 deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.28
gnomAD pLI
0
gnomAD missense Z
0.22
DepMap mean gene effect
-2.02
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GINS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GINS1 as an antibody target. Whether an autoantibody or antibody against GINS1 could matter depends on whether native GINS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GINS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GINS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GINS1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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