1. Gene
  2. GINS1 - GINS complex subunit 1 Gene

GINS1 - GINS complex subunit 1 Gene

中文名称:轧棉厂复杂亚基 1

种属: Homo sapiens

同用名: PSF1; IMD55

基因 ID: 9837 | 基因类型: protein coding

关于 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.

功能概要

酵母异四聚体 GINS 复合体由 Sld5 (GINS4;MIM 610611) 、Psf1、Psf2 (GINS2;MIM 610609) 和 Psf3 (GINS3;MIM 610610) 组成。 GINS 复合物的形成对于酵母和爪蟾卵提取物中 DNA 复制的启动至关重要 (Ueno 等人,2005 [PubMed 16287864]) 。[OMIM 提供,2008 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17417653 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA unwinding involved in DNA replication IDA
IDA: 通过直接分析推断
22474384 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CMG complex IPI
IPI: 通过物理相互作用推断
22474384 GOA
part of GINS complex IPI
IPI: 通过物理相互作用推断
17417653 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
10942595 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10942595 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

DNA replication complex GINS protein PSF1

GINS complex subunit 1 (Psf1 homolog)

GINS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
GINS1 Q14691 DONSON Homo sapiens Q9NYP3
PLA
32769987
种属内
GINS1 Q14691 DONSON Homo sapiens Q9NYP3 32769987
种属内
GINS1 Q14691 GINS4 Homo sapiens Q9BRT9
GMS
17652513
种属内
GINS1 Q14691 GINS4 Homo sapiens Q9BRT9 17417653
种属内
GINS1 Q14691 GINS4 Homo sapiens Q9BRT9 17417653
种属内
GINS1 Q14691 GINS4 Homo sapiens Q9BRT9 17652513
种属内
GINS1 Q14691 GINS4 Homo sapiens Q9BRT9 17652513
种属内
GINS1 Q14691 GINS4 Homo sapiens Q9BRT9 33961781
种属内
GINS1 Q14691 GINS4 Homo sapiens Q9BRT9
GMS
17417653
种属间: 跨种属相互作用 种属内: 同种属相互作用

GINS1 抗体

目录号 产品名 应用 反应物种
HY-P82018 PSF1 Antibody (YA1763) WB, ICC/IF, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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