RECQL5 - RecQ like helicase 5 Gene

Also Known as RECQ5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9400

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA helicase activity IDA
IDA: Inferred from direct assay
22013166 GOA
enables RNA polymerase II complex binding IDA
IDA: Inferred from direct assay
23748380 GOA
enables helicase activity IDA
IDA: Inferred from direct assay
18003859 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
23748380 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18562274 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA repair IMP
IMP: Inferred from mutant phenotype
22973052 GOA
involved in DNA replication IMP
IMP: Inferred from mutant phenotype
22013166 GOA
involved in chromosome separation IMP
IMP: Inferred from mutant phenotype
22013166 GOA
involved in mitotic DNA-templated DNA replication IDA
IDA: Inferred from direct assay
28575661 GOA
involved in mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
22013166 GOA
involved in negative regulation of transcription elongation by RNA polymerase II IDA
IDA: Inferred from direct assay
23748380 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
22013166 GOA
is active in replication fork IDA
IDA: Inferred from direct assay
18003859 GOA
part of transcription preinitiation complex IDA
IDA: Inferred from direct assay
22231121 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RECQL5 Protein Structure

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.
Protein Preferred Names Protein Names

ATP-dependent DNA helicase Q5

  • DNA helicase, RecQ-like type 5

Related Diseases

Diseases Alias
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
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 (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-145685 RECQL5-IN-1 Inhibitor 98.40% 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-RS24323 Recql5 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others RECQL5 NCBI