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  2. RMI1 - RecQ mediated genome instability 1 Gene

RMI1 - RecQ mediated genome instability 1 Gene

中文名称:RecQ 介导的基因组不稳定性 1

种属: Homo sapiens

同用名: BLAP75; FAAP75; C9orf76

基因 ID: 80010 | 基因类型: protein coding

关于 RMI1

Cytogenetic location: 9q21.32 Genomic coordinates (GRCh38): 9:83,980,359-84,004,074 (from NCBI)

This gene has 2 transcripts (splice variants), 187 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 5.7), lymph node (RPKM 5.0) and 25 other tissues.

功能概要

RMI1 是蛋白质复合物的一个组成部分,它通过双 Holliday 连接的溶解来限制 DNA 交叉形成 (Raynard 等人,2006 [PubMed 16595695]) 。[OMIM 提供,2008 年 3 月]

RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008]

RMI1 基因产物(5)

mRNA Protein Name
NM_001358291.2 NP_001345220.1 recQ-mediated genome instability protein 1
NM_001358292.2 NP_001345221.1 recQ-mediated genome instability protein 1
NM_001358293.2 NP_001345222.1 recQ-mediated genome instability protein 1
NM_001358294.2 NP_001345223.1 recQ-mediated genome instability protein 1
NM_024945.3 NP_079221.2 recQ-mediated genome instability protein 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
15775963 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
23543748 GOA
involved in resolution of DNA recombination intermediates IDA
IDA: 通过直接分析推断
23543748 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of RecQ family helicase-topoisomerase III complex IPI
IPI: 通过物理相互作用推断
24984776 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

RMI1 蛋白结构

RMI1_N

RMI1_N: RecQ mediated genome instability protein (12 - 104)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 625 a.a.
蛋白主名 其他名称

recQ-mediated genome instability protein 1

BLM-associated polypeptide, 75 kDa

RMI1 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
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14-1 20826341
种属内
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14-1 20826342
种属内
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14-1
GMS
20826341
种属内
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14-1 20826342
种属内
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14-1 20826341
种属内
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14-1 20826342
种属内
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14-1
GMS
20826342
种属内
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14-1 20826341
种属内
RMI1 Q9H9A7 RMI2 Homo sapiens Q96E14 20711169
种属内
RMI1 Q9H9A7 TOP3A Homo sapiens Q13472 20711169
种属内
RMI1 Q9H9A7 TOP3A Homo sapiens Q13472 15775963
种属内
RMI1 Q9H9A7 TOP3A Homo sapiens Q13472
TAP
20360068
种属内
RMI1 Q9H9A7 TOP3A Homo sapiens Q13472 33961781
种属内
RMI1 Q9H9A7 TOP3A Homo sapiens Q13472 20826342
种属内
RMI1 Q9H9A7 BLM Homo sapiens P54132
IF
15775963
种属内
RMI1 Q9H9A7 BLM Homo sapiens P54132 23509288
种属内
RMI1 Q9H9A7 BLM Homo sapiens P54132 20711169
种属内
RMI1 Q9H9A7 BLM Homo sapiens P54132 15775963
种属内
RMI1 Q9H9A7 BLM Homo sapiens P54132 20826342
种属内
RMI1 Q9H9A7 BLM Homo sapiens P54132
TAP
20360068
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
Bloom Syndrome

BLM

Bs

Bls

Bloom-Torre-Machacek Syndrome

Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

Mgrisce1

Congenital Telangiectatic Erythema

Congenital Telangiectatic Erythema Syndrome

Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

Bloom'S Syndrome

Bsyn

Baller-Gerold Syndrome

BGS

Craniosynostosis With Radial Defects

Craniosynostosis-Radial Aplasia Syndrome

Craniosynostosis Radial Aplasia Syndrome

Rothmund-Thomson Syndrome, Type 2

Rothmund-Thomson Syndrome

Rts

RTS2

Poikiloderma Of Rothmund-Thomson

Rothmund-Thomson Syndrome Type 2

Congenital Poikiloderma

Poikiloderma Congenitale

Poikiloderma Atrophicans And Cataract

Poikiloderma Congenitale Of Rothmund-Thomson

Poikiloderma Of Rothmund-Thomson Type 2

Rothmund-Thomson Syndrome 2

Erythrokeratodermia Variabilis

Ovarian Mucinous Cystadenocarcinoma

Mucinous Cystadenocarcinoma Of Ovary

Malignant Ovarian Cyst
Rapadilino Syndrome

Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate

Radial And Patellar Aplasia

Radial And Patellar Hypoplasia

RAPADILINOS

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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
Macaca mulatta RMI1 VGNC VGNC:76826
Rattus norvegicus RMI1 RGD RGD:1310671
Canis familiaris RMI1 VGNC VGNC:45608
Bos taurus RMI1 VGNC VGNC:59200
Mus musculus RMI1 MGD MGI:1921636
Felis catus RMI1 VGNC VGNC:64652