GINS3 (GINS complex subunit 3)

Gene

• Entrez ID: 64785
• Gene name: GINS complex subunit 3
• Gene symbol: GINS3
• Synonyms (NCBI Gene): PSF3
• Chromosome: 16
• Chromosome location: 16q21
• Summary: This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been desc

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016571	hsa-miR-193b-3p	Microarray	20304954
MIRT1019211	hsa-miR-1827	CLIP-seq
MIRT1019212	hsa-miR-204	CLIP-seq
MIRT1019213	hsa-miR-211	CLIP-seq
MIRT1019214	hsa-miR-346	CLIP-seq
MIRT1019215	hsa-miR-3915	CLIP-seq
MIRT1019216	hsa-miR-3928	CLIP-seq
MIRT1019217	hsa-miR-4446-5p	CLIP-seq
MIRT1019218	hsa-miR-4755-5p	CLIP-seq
MIRT1019219	hsa-miR-623	CLIP-seq
MIRT1549210	hsa-miR-3188	CLIP-seq
MIRT1549211	hsa-miR-4641	CLIP-seq
MIRT1549210	hsa-miR-3188	CLIP-seq
MIRT1549211	hsa-miR-4641	CLIP-seq
MIRT2234857	hsa-miR-1205	CLIP-seq
MIRT2234858	hsa-miR-214	CLIP-seq
MIRT2234859	hsa-miR-3619-5p	CLIP-seq
MIRT2234860	hsa-miR-4514	CLIP-seq
MIRT2234861	hsa-miR-4691-5p	CLIP-seq
MIRT2234862	hsa-miR-4692	CLIP-seq
MIRT2234863	hsa-miR-4722-5p	CLIP-seq
MIRT2234864	hsa-miR-4768-3p	CLIP-seq
MIRT2234865	hsa-miR-761	CLIP-seq
MIRT2234866	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Unknown	17127213

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000811	Component	GINS complex	IBA
GO:0000811	Component	GINS complex	IPI	17417653
GO:0005515	Function	Protein binding	IPI	19805216, 26871637, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	22474384
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	17467990
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006260	Process	DNA replication	IDA	22474384
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	NAS	17467990
GO:0035264	Process	Multicellular organism growth	IEA
GO:0071162	Component	CMG complex	IPI	22474384
GO:0071162	Component	CMG complex	ISS
GO:0090398	Process	Cellular senescence	IEA

Other IDs

• MIM: 610610
• HGNC: 25851
• e!Ensembl: ENSG00000181938

Protein

• UniProt ID: Q9BRX5
• Protein name: DNA replication complex GINS protein PSF3 (GINS complex subunit 3)
• Protein function: 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 (PubMed:17417653, PubMed:28414293). GINS complex is a core component of C
• PDB: 2E9X, 2EHO, 2Q9Q, 6XTX, 6XTY, 7PFO, 7PLO, 8B9D, 8OK2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05916	Sld5	66 → 173	GINS complex protein	Family

• Sequence:

  MSEAYFRVESGALGPEENFLSLDDILMSHEKLPVRTETAMPRLGAFFLERSAGAETDNAV
  PQGSKLELPLWLAKGLFDNKRRILSVELPKIYQEGWRTVFSADPNVVDLHKMGPHFYGFG
  SQLLHFDSPENADISQSLLQTFIGRFRRIMDSSQNAYNEDTSALVARLDEMERGLFQTGQ
  KGLNDFQCWEKGQASQITASNLVQNYKKRKFTDMED

• Sequence length: 216

Pathways

Reactome:

Unwinding of DNA

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DERMATOMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GINS3-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEIER-GORLIN SYNDROME	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	26291987	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	26291987	★☆☆☆☆ Found in Text Mining only
Death Sudden Cardiac	Associate	19305409	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	23977152	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	26291987, 33725952, 35896011	★☆☆☆☆ Found in Text Mining only
Sarcoma	Associate	35896011	★☆☆☆☆ Found in Text Mining only