1. Gene
  2. RECQL - RecQ like helicase Gene

RECQL - RecQ like helicase Gene

中文名称:RecQ 样解旋酶

种属: Homo sapiens

同用名: RecQ1; RECQL1

基因 ID: 5965 | 基因类型: protein coding

关于 RECQL

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:21,468,910-21,501,635 (from NCBI)

This gene has 8 transcripts (splice variants), 211 orthologues and 4 paralogues. Ubiquitous expression in lymph node (RPKM 20.4), appendix (RPKM 19.2) and 25 other tissues.

功能概要

该基因编码的蛋白质是 RecQ DNA 解旋酶家族的成员。 DNA 解旋酶是参与各种类型的 DNA 修复的酶,包括错配修复、核苷酸切除修复和直接修复。编码的蛋白质参与 Holliday 连接的处理、姐妹染色单体交换的抑制、端粒维护,并且是基因毒性应激抵抗所必需的。该基因的缺陷与多种类型的癌症有关。[RefSeq 提供,2017 年 1 月]

The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are Enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of Cancer. [provided by RefSeq, Jan 2017]

RECQL 基因产物(2)

mRNA Protein Name
NM_002907.4 NP_002898.2 ATP-dependent DNA helicase Q1
NM_032941.3 NP_116559.1 ATP-dependent DNA helicase Q1

RECQL 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (94 - 259)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (334 - 408)

RQC

RQC: RQC domain (490 - 591)

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  • 649 a.a.
蛋白主名 其他名称

ATP-dependent DNA helicase Q1

DNA helicase, RecQ-like type 1

RECQL 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
RECQL P46063 PARP1 Homo sapiens P09874
Far-WB
23396353
种属内
RECQL P46063 PARP1 Homo sapiens P09874
Pull Down
23396353
种属内
RECQL P46063 PARP1 Homo sapiens P09874
TAP
23396353
种属内
RECQL P46063 PARP1 Homo sapiens P09874
Anti Bait CoIP
23396353
种属内
RECQL P46063 PARP1 Homo sapiens P09874
ADP Ribosylase
23396353
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
Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

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

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

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

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

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

Schimke Immunoosseous Dysplasia

Schimke Immuno-Osseous Dysplasia

SIOD

Immunoosseous Dysplasia, Schimke Type

Schimke Syndrome

Immunoosseous Dysplasia Schimke Type

Spondyloepiphyseal Dysplasia - Nephrotic Syndrome

Spondyloepiphyseal Dysplasia Nephrotic Syndrome

Spondyloepiphyseal Dysplasia-Nephrotic Syndrome

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus RECQL MGD MGI:103021
Bos taurus RECQL VGNC VGNC:33848
Rattus norvegicus RECQL RGD RGD:1311071
Felis catus RECQL VGNC VGNC:69280
Macaca mulatta RECQL VGNC VGNC:76889
Canis familiaris RECQL VGNC VGNC:45458