RINT1 - RAD50 interactor 1 Gene

中文名称：RAD50 交互器 1

种属: Homo sapiens

同用名: ILFS3; RINT-1

基因 ID: 60561 | 基因类型: protein coding

关于 RINT1

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:105,532,201-105,567,677 (from NCBI)

This gene has 8 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 8.2), bone marrow (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码的蛋白质首先被鉴定为具有与 RAD50 双链断裂修复蛋白相互作用的能力，由此产生的相互作用涉及细胞周期进程和端粒长度的调节。编码的蛋白质也可能在细胞货物从核内体到跨高尔基体网络的运输中发挥作用。该基因的突变可能与人类患者的乳腺癌有关。[RefSeq 提供，2016 年 10 月]

This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast Cancer in human patients. [provided by RefSeq, Oct 2016]

RINT1 基因产物(5)

mRNA	Protein	Name
NM_001346599.2	NP_001333528.1	RAD50-interacting protein 1 isoform 2
NM_001346600.2	NP_001333529.1	RAD50-interacting protein 1 isoform 3
NM_001346601.2	NP_001333530.1	RAD50-interacting protein 1 isoform 4
NM_001346603.2	NP_001333532.1	RAD50-interacting protein 1 isoform 3
NM_021930.6	NP_068749.3	RAD50-interacting protein 1 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	11096100	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitotic G2 DNA damage checkpoint signaling	IMP IMP: 通过突变表型推断	11096100	GOA
involved in regulation of ER to Golgi vesicle-mediated transport	IMP IMP: 通过突变表型推断	16571679	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Dsl1/NZR complex	IDA IDA: 通过直接分析推断	20462495	GOA
part of Dsl1/NZR complex	IPI IPI: 通过物理相互作用推断	20462495	GOA
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	15029241	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

RINT1 蛋白结构

RINT1_TIP1

0
200
400
600
792 a.a.

蛋白主名

其他名称

RAD50-interacting protein 1

RINT1 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	RINT1	Q6NUQ1	ZW10	Homo sapiens	O43264	Pull Down	24056303
种属内	RINT1	Q6NUQ1	ZW10	Homo sapiens	O43264	Anti Bait CoIP	24056303
种属内	RINT1	Q6NUQ1	ZW10	Homo sapiens	O43264	Anti Bait CoIP	20462495
种属内	RINT1	Q6NUQ1	ZW10	Homo sapiens	O43264	GMS	24056303
种属内	RINT1	Q6NUQ1	ZW10	Homo sapiens	O43264	Anti Tag CoIP	20462495
种属内	RINT1	Q6NUQ1	ZW10	Homo sapiens	O43264	Anti Tag CoIP	33961781
种属内	RINT1	Q6NUQ1	ZW10	Homo sapiens	O43264	Anti Tag CoIP	28514442
种属内	RINT1	Q6NUQ1	CCHCR1	Homo sapiens	Q8TD31-3	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	CEP57L1	Homo sapiens	Q8IYX8-2	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	FAM107A	Homo sapiens	O95990-3	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	FAM107A	Homo sapiens	O95990-3	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	RTP5	Homo sapiens	Q14D33	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	RTP5	Homo sapiens	Q14D33	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	LOC729862	Homo sapiens	Q0VAF8	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	LOC729862	Homo sapiens	Q0VAF8	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	LOC729862	Homo sapiens	Q0VAF9	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	LOC729862	Homo sapiens	Q0VAF9	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	CCDC146	Homo sapiens	Q8IYE0-2	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	RSRC2	Homo sapiens	Q7L4I2-2	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	RSRC2	Homo sapiens	Q7L4I2-2	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	RSRC2	Homo sapiens	Q7L4I2-2	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	RIBC1	Homo sapiens	Q8N443	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	RIBC1	Homo sapiens	Q8N443	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	ZNF697	Homo sapiens	Q8N508	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	JMY	Homo sapiens	Q8N9B5-2	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	FAM81B	Homo sapiens	Q96LP2	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	LYSMD1	Homo sapiens	Q96S90	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	SH2D4A	Homo sapiens	Q9H788-2	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	STRN	Homo sapiens	O43815	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	TSHZ2	Homo sapiens	Q9NRE2	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	SFR1	Homo sapiens	Q86XK3	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	CDR2L	Homo sapiens	Q86X02	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	TRIM69	Homo sapiens	Q86WT6-2	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	C19orf44	Homo sapiens	Q9H6X5-2	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	RNF39	Homo sapiens	Q9H2S5	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	MGC50722	Homo sapiens	Q8IVT4	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	ANKRD11	Homo sapiens	X5D778	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	FAM110A	Homo sapiens	Q9BQ89	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	MISP	Homo sapiens	Q8IVT2	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	TSEN54	Homo sapiens	Q7Z6J9	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	PRPF18	Homo sapiens	Q99633	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	ARHGAP45	Homo sapiens	Q92619	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	CCDC121	Homo sapiens	Q6ZUS5	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	UVRAG	Homo sapiens	Q9P2Y5	Anti Bait CoIP	24056303
种属内	RINT1	Q6NUQ1	UVRAG	Homo sapiens	Q9P2Y5	GMS	24056303
种属内	RINT1	Q6NUQ1	UVRAG	Homo sapiens	Q9P2Y5	Anti Tag CoIP	24056303
种属内	RINT1	Q6NUQ1	UVRAG	Homo sapiens	Q9P2Y5	Pull Down	24056303
种属内	RINT1	Q6NUQ1	VAV3	Homo sapiens	Q9UKW4	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	HDAC4	Homo sapiens	P56524	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	HDAC4	Homo sapiens	P56524	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	PIK3R2	Homo sapiens	O00459	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	PIK3R2	Homo sapiens	O00459	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	TXLNA	Homo sapiens	P40222	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	DPF2	Homo sapiens	Q92785	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	SMARCE1	Homo sapiens	Q969G3	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	BLOC1S6	Homo sapiens	Q9UL45	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	CWF19L2	Homo sapiens	Q2TBE0	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	MYOZ3	Homo sapiens	Q8TDC0	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	ZNF835	Homo sapiens	Q9Y2P0	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	ZNF655	Homo sapiens	Q8N720	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	ZNF655	Homo sapiens	Q8N720	Y2H Array	31515488
种属内	RINT1	Q6NUQ1	ZNF655	Homo sapiens	Q8N720	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	SNW1	Homo sapiens	Q13573	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	SNW1	Homo sapiens	Q13573	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	FAM90A1	Homo sapiens	Q86YD7	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	FAM90A1	Homo sapiens	Q86YD7	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	FAM161A	Homo sapiens	Q3B820	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	FAM161A	Homo sapiens	Q3B820	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	FAM161A	Homo sapiens	Q3B820	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	FAM161B	Homo sapiens	Q96MY7	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	LMO2	Homo sapiens	P25791	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	RBM41	Homo sapiens	Q96IZ5	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	RBM41	Homo sapiens	Q96IZ5	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	C19orf25	Homo sapiens	Q9UFG5	Anti Tag CoIP	28514442
种属内	RINT1	Q6NUQ1	C19orf25	Homo sapiens	Q9UFG5	Anti Tag CoIP	33961781
种属内	RINT1	Q6NUQ1	C19orf25	Homo sapiens	Q9UFG5	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	FAM124B	Homo sapiens	Q9H5Z6	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	FAM124B	Homo sapiens	Q9H5Z6	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	EXOC8	Homo sapiens	Q8IYI6	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	MMTAG2	Homo sapiens	Q9BU76	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	SGF29	Homo sapiens	Q96ES7	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	SGF29	Homo sapiens	Q96ES7	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	RAMAC	Homo sapiens	Q9BTL3	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	CCDC120	Homo sapiens	Q96HB5	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	SH2D4A	Homo sapiens	Q9H788	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	SH2D4A	Homo sapiens	Q9H788	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	SH2D4A	Homo sapiens	Q9H788	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	TACO1	Homo sapiens	Q9BSH4	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	SCNM1	Homo sapiens	Q9BWG6	Validated Y2H	27107012
种属内	RINT1	Q6NUQ1	SCNM1	Homo sapiens	Q9BWG6	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	SCNM1	Homo sapiens	Q9BWG6	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	SCNM1	Homo sapiens	Q9BWG6	Y2H Array	25416956
种属内	RINT1	Q6NUQ1	EPC1	Homo sapiens	Q9H2F5	MAPPIT	25416956
种属内	RINT1	Q6NUQ1	EPC1	Homo sapiens	Q9H2F5	Validated Y2H	25416956
种属内	RINT1	Q6NUQ1	AIRIM	Homo sapiens	Q9NX04	Y2H Prey Pooling	25416956
种属内	RINT1	Q6NUQ1	AIRIM	Homo sapiens	Q9NX04	Validated Y2H	32296183
种属内	RINT1	Q6NUQ1	DCX	Homo sapiens	O43602	Y2H Array	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Infantile Liver Failure Syndrome 3

ILFS3

Acute Liver Failure

Fulminant Hepatic Failure	Acute Hepatic Failure
Liver Failure Acute	Hepatic Failure Fulminant
Liver Failure, Acute

Fever-Associated Acute Infantile Liver Failure Syndrome

Infantile Liver Failure Syndrome

Infantile Liver Failure

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Pelger-Huet Anomaly

PHA	Pelger-Huët Anomaly
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities	Pelger Huet Anomaly
Pelger-Huet Nuclear Anomaly

Munchausen By Proxy

Munchausen Syndrome By Proxy	Munchausen By Proxy Syndrome
Münchausen Syndrome By Proxy

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia
Optic Nerve Hypoplasia, Familial Bilateral	Familial Bilateral Optic Nerve Hypoplasia
Isolated Optic Nerve Hypoplasia/Aplasia	Optic Nerve Aplasia, Bilateral
Onh	BONH
Bilateral Optic Nerve Aplasia	Hypoplasia, Optic Nerve, Bilateral

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, 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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11987	RINT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	RINT1	VGNC	VGNC:33979
Rattus norvegicus	RINT1	RGD	RGD:1560433
Mus musculus	RINT1	MGD	MGI:1916233
Macaca mulatta	RINT1	VGNC	VGNC:76802
Felis catus	RINT1	VGNC	VGNC:64637
Canis familiaris	RINT1	VGNC	VGNC:45591

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