RECQL - RecQ like helicase Gene

Also Known as RecQ1; RECQL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5965

About 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.

Summary

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 Products (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 Protein Structure

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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  • 600
  • 649 a.a.
Protein Preferred Names Protein Names

ATP-dependent DNA helicase Q1

  • DNA helicase, RecQ-like type 1

RECQL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RECQL P46063 PARP1 Homo sapiens P09874
Far-WB
23396353
Intra
RECQL P46063 PARP1 Homo sapiens P09874
Pull Down
23396353
Intra
RECQL P46063 PARP1 Homo sapiens P09874
TAP
23396353
Intra
RECQL P46063 PARP1 Homo sapiens P09874
Anti Bait CoIP
23396353
Intra
RECQL P46063 PARP1 Homo sapiens P09874
ADP Ribosylase
23396353
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-145685 RECQL5-IN-1 Inhibitor 98.40% Unkown
HY-RS11810 RECQL Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS11811 RECQL4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS11812 RECQL5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17854 Recql5 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20589 Recql4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24323 Recql5 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27097 Recql4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others RECQL NCBI