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

RECQL5 - RecQ like helicase 5 Gene

Homo sapiens

Also known as RECQ5

Gene ID: 9400 | Gene type: protein coding

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

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)

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  • 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

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