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GINS1 - GINS complex subunit 1 Gene

Also Known as PSF1; IMD55

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9837

About GINS1

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:25,407,673-25,448,563 (from NCBI)

This gene has 25 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 4.5), lymph node (RPKM 2.0) and 19 other tissues.

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]

GINS1 Products (3)

mRNA	Protein	Name
NM_001410830.1	NP_001397759.1	DNA replication complex GINS protein PSF1 isoform 2
NM_001410831.1	NP_001397760.1	DNA replication complex GINS protein PSF1 isoform 3
NM_021067.5	NP_066545.3	DNA replication complex GINS protein PSF1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17417653	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA unwinding involved in DNA replication	IDA IDA: Inferred from direct assay	22474384	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of CMG complex	IPI IPI: Inferred from physical interaction	22474384	GOA
part of GINS complex	IPI IPI: Inferred from physical interaction	17417653	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10942595	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10942595	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
DNA replication complex GINS protein PSF1	GINS complex subunit 1 (Psf1 homolog)

GINS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GINS1	Q14691	DONSON	Homo sapiens	Q9NYP3	PLA	32769987
Intra	GINS1	Q14691	DONSON	Homo sapiens	Q9NYP3	Anti Bait CoIP	32769987
Intra	GINS1	Q14691	GINS4	Homo sapiens	Q9BRT9	GMS	17652513
Intra	GINS1	Q14691	GINS4	Homo sapiens	Q9BRT9	Solution Sedimentation	17417653
Intra	GINS1	Q14691	GINS4	Homo sapiens	Q9BRT9	X-Ray Diffraction	17417653
Intra	GINS1	Q14691	GINS4	Homo sapiens	Q9BRT9	Ion Exchange Chrom	17652513
Intra	GINS1	Q14691	GINS4	Homo sapiens	Q9BRT9	X-Ray Diffraction	17652513
Intra	GINS1	Q14691	GINS4	Homo sapiens	Q9BRT9	Anti Tag CoIP	33961781
Intra	GINS1	Q14691	GINS4	Homo sapiens	Q9BRT9	GMS	17417653

Cross: Cross-species interaction Intra: Intraspecies interaction

GINS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82018	PSF1 Antibody (YA1763)	WB, ICC/IF, FC	Human, Mouse, Rat
HY-P82018A	PSF1 Antibody (YA1763)(PBS only)	WB, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Immunodeficiency 55	Combined Immunodeficiency Due To Gins1 Deficiency IMD55 Cid Due To Gins1 Deficiency Combined Immunodeficiency With Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia Combined Immunodeficiency With Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia
Neutropenia	Leukopenia
Nk Cell Deficiency
Dendritic Cell Deficiency
Adrenal Cortical Adenocarcinoma	Adrenal Cortex Adenocarcinoma Adrenocortical Carcinoma
Immunodeficiency 54	Natural Killer Cell Deficiency, Familial Isolated Primary Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency IMD54 Nkcd Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect Nkgcd Familial Isolated Natural Killer Cell Deficiency Primary Immunodeficiency Due To Mcm4 Deficiency
Hemophagocytic Lymphohistiocytosis, Familial, 2	Familial Hemophagocytic Lymphohistiocytosis 2 FHL2 Hplh2 Hlh2 Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
Immunodeficiency 40	Dock2 Deficiency IMD40 Immunodeficiency, Type 40
Filippi Syndrome	Scott Craniodigital Syndrome With Mental Retardation Type 1 Syndactyly-Microcephaly-Intellectual Disability Syndrome FLPIS Scott Bryant Graham Syndrome Craniodigital-Intellectual Disability Syndrome Scott Craniodigital Syndrome Scott-Bryant-Graham Syndrome Syndactyly, Type I, With Microcephaly And Mental Retardation Syndactyly Type I With Microcephaly And Intellectual Disability Unusual Facial Appearance, Microcephaly, Growth And Intellectual Disability And Syndactyly Craniodigital Syndrome With Intellectual Disability Craniodigital Syndrome-Intellectual Disability Syndrome Craniodigital Syndrome-Intellectual Disability, Scott Type Intellectual Disability-Craniodigital Syndrome
Immunodeficiency 21	Monocytopenia And Mycobacterial Infection Syndrome Monomac Gata2 Deficiency Monocytopenia With Susceptibility To Infections Dcml IMD21 Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections Monocyte - B - Natural Killer - Dendritic Cell Deficiency Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Image Syndrome IMAGE Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies Image Anomaly Image Association Fetal Growth Retardation Pyle Metaphyseal Dysplasia
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W279260	APOBEC3G-IN-1	Inhibitor	96.88%	Unkown
HY-RS05429	GIN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05430	GINS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20936	Gins1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27453	Gins1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GINS1	VGNC	VGNC:29360
Mus musculus	GINS1	MGD	MGI:1916520
Rattus norvegicus	GINS1	RGD	RGD:1562246
Macaca mulatta	GINS1	VGNC	VGNC:73025
Others	GINS1	NCBI