GINS1 - GINS complex subunit 1 Gene

Homo sapiens

Also known as PSF1; IMD55

Gene ID: 9837 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17417653	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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)

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W279260	APOBEC3G-IN-1	Inhibitor	96.54%	Unkown
HY-RS05429	GIN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS05430	GINS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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