2. Gene
  3. RECQL5 - RecQ like helicase 5 Gene

RECQL5 - RecQ like helicase 5 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RecQ 样解旋酶 5

种属: Homo sapiens

同用名: RECQ5

基因 ID: 9400 | 基因类型: protein coding

关于 RECQL5

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,626,854-75,667,154 (from NCBI)

This gene has 19 transcripts (splice variants), 199 orthologues and 4 paralogues. Ubiquitous expression in testis (RPKM 5.3), stomach (RPKM 5.3) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种对基因组稳定性很重要的解旋酶。编码的蛋白质还通过从 ssDNA 中置换 RAD51 来防止异常同源重组。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供，2011 年 7 月]

The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

RECQL5 基因产物(3)

mRNA Protein Name
NM_001003715.4 NP_001003715.1 ATP-dependent DNA helicase Q5 isoform 2
NM_001003716.4 NP_001003716.1 ATP-dependent DNA helicase Q5 isoform 3
NM_004259.7 NP_004250.4 ATP-dependent DNA helicase Q5 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 DNA helicase activity IDA
IDA: 通过直接分析推断
22013166 GOA
enables RNA polymerase II complex binding IDA
IDA: 通过直接分析推断
23748380 GOA
enables helicase activity IDA
IDA: 通过直接分析推断
18003859 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
23748380 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18562274 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA repair IMP
IMP: 通过突变表型推断
22973052 GOA
involved in DNA replication IMP
IMP: 通过突变表型推断
22013166 GOA
involved in chromosome separation IMP
IMP: 通过突变表型推断
22013166 GOA
involved in mitotic DNA-templated DNA replication IDA
IDA: 通过直接分析推断
28575661 GOA
involved in mitotic cell cycle IMP
IMP: 通过突变表型推断
22013166 GOA
involved in negative regulation of transcription elongation by RNA polymerase II IDA
IDA: 通过直接分析推断
23748380 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
22013166 GOA
is active in replication fork IDA
IDA: 通过直接分析推断
18003859 GOA
part of transcription preinitiation complex IDA
IDA: 通过直接分析推断
22231121 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

RECQL5 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (31 - 200)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (279 - 354)

RecQ5

RecQ5: RecQ helicase protein-like 5 (RecQ5) (625 - 829)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 991 a.a.
蛋白主名 其他名称

ATP-dependent DNA helicase Q5

DNA helicase, RecQ-like type 5

关联疾病

疾病名称 别名
Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome
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
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
Baller-Gerold Syndrome

BGS

Craniosynostosis With Radial Defects

Craniosynostosis-Radial Aplasia Syndrome

Craniosynostosis Radial Aplasia Syndrome
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
Dyskeratosis Congenita, Autosomal Recessive 5

Dyskeratosis Congenita, Autosomal Dominant, 4

DKCB5

Autosomal Dominant Dyskeratosis Congenita 4

DKCA4

Autosomal Recessive Dyskeratosis Congenita 5

Dyskeratosis Congenita, Autosomal Recessive, 5

Dyskeratosis Congenita, Autosomal Dominant 4

Dyskeratosis Congenita, Autosomal Recessive, Type 5
Diffuse Gastric And Lobular Breast Cancer Syndrome

Hereditary Diffuse Gastric Cancer

HDGC

LBC

Familial Diffuse Gastric Cancer

Fdgc

Hereditary Diffuse Gastric Adenocarcinoma

Breast Cancer, Lobular

Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate

DGLBC

Gastric Cancer, Hereditary Diffuse

Gastric Cancer, Familial Diffuse Breast Cancer, Lobular

Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate

E-Cadherin-Associated Hereditary Gastric Cancer

Familial Diffuse Cancer Of Stomach

Hereditary Diffuse Cancer Of Stomach

Gastric Cancer Familial Diffuse

Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate

Cancer, Gastric, Hereditary Diffuse
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
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-145685 RECQL5-IN-1 Inhibitor 98.40% 否
HY-RS11812 RECQL5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RECQL5 VGNC VGNC:76891
Mus musculus RECQL5 MGD MGI:2156841
Canis familiaris RECQL5 VGNC VGNC:45459
Bos taurus RECQL5 VGNC VGNC:33850
Felis catus RECQL5 VGNC VGNC:69281
Rattus norvegicus RECQL5 RGD RGD:1310823
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