RECQL4 - RecQ like helicase 4 Gene

Also Known as RECQ4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9401

About RECQL4

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,511,288-144,517,833 (from NCBI)

This gene has 11 transcripts (splice variants), 155 orthologues, 4 paralogues and is associated with 93 phenotypes. Broad expression in bone marrow (RPKM 7.0), testis (RPKM 7.0) and 22 other tissues.

Summary

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

RECQL4 Products (27)

mRNA	Protein	Name
NM_001413017.1	NP_001399946.1	ATP-dependent DNA helicase Q4 isoform 2
NM_001413018.1	NP_001399947.1	ATP-dependent DNA helicase Q4 isoform 3
NM_001413019.1	NP_001399948.1	ATP-dependent DNA helicase Q4 isoform 4
NM_001413020.1	NP_001399949.1	ATP-dependent DNA helicase Q4 isoform 5
NM_001413021.1	NP_001399950.1	ATP-dependent DNA helicase Q4 isoform 6
NM_001413022.1	NP_001399951.1	ATP-dependent DNA helicase Q4 isoform 6
NM_001413023.1	NP_001399952.1	ATP-dependent DNA helicase Q4 isoform 7
NM_001413024.1	NP_001399953.1	ATP-dependent DNA helicase Q4 isoform 6
NM_001413025.1	NP_001399954.1	ATP-dependent DNA helicase Q4 isoform 8
NM_001413027.1	NP_001399956.1	ATP-dependent DNA helicase Q4 isoform 9
NM_001413028.1	NP_001399957.1	ATP-dependent DNA helicase Q4 isoform 6
NM_001413029.1	NP_001399958.1	ATP-dependent DNA helicase Q4 isoform 10
NM_001413030.1	NP_001399959.1	ATP-dependent DNA helicase Q4 isoform 9
NM_001413031.1	NP_001399960.1	ATP-dependent DNA helicase Q4 isoform 11
NM_001413032.1	NP_001399961.1	ATP-dependent DNA helicase Q4 isoform 9
NM_001413033.1	NP_001399962.1	ATP-dependent DNA helicase Q4 isoform 12
NM_001413034.1	NP_001399963.1	ATP-dependent DNA helicase Q4 isoform 6
NM_001413035.1	NP_001399964.1	ATP-dependent DNA helicase Q4 isoform 6
NM_001413036.1	NP_001399965.1	ATP-dependent DNA helicase Q4 isoform 13
NM_001413037.1	NP_001399966.1	ATP-dependent DNA helicase Q4 isoform 14
NM_001413038.1	NP_001399967.1	ATP-dependent DNA helicase Q4 isoform 15
NM_001413039.1	NP_001399968.1	ATP-dependent DNA helicase Q4 isoform 16
NM_001413040.1	NP_001399969.1	ATP-dependent DNA helicase Q4 isoform 6
NM_001413041.1	NP_001399970.1	ATP-dependent DNA helicase Q4 isoform 17
NM_001413042.1	NP_001399971.1	ATP-dependent DNA helicase Q4 isoform 14
NM_001413043.1	NP_001399972.1	ATP-dependent DNA helicase Q4 isoform 18
NM_004260.4	NP_004251.4	ATP-dependent DNA helicase Q4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
NOT enables 3'-5' DNA helicase activity	IMP IMP: Inferred from mutant phenotype	19177149	GOA
enables DNA/DNA annealing activity	IDA IDA: Inferred from direct assay	19177149	GOA
enables bubble DNA binding	IDA IDA: Inferred from direct assay	19177149	GOA
enables oxidized purine DNA binding	IDA IDA: Inferred from direct assay	22039056	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA
enables telomeric D-loop binding	IDA IDA: Inferred from direct assay	22039056	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in DNA duplex unwinding	IDA IDA: Inferred from direct assay	19177149	GOA
involved in DNA replication	IMP IMP: Inferred from mutant phenotype	22039056	GOA
involved in telomere maintenance	IMP IMP: Inferred from mutant phenotype	22039056	GOA
involved in telomeric D-loop disassembly	IDA IDA: Inferred from direct assay	22039056	GOA
involved in telomeric D-loop disassembly	IGI IGI: Inferred from genetic interaction	22039056	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in chromosome, telomeric region	IMP IMP: Inferred from mutant phenotype	22039056	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

RECQL4 Protein Structure

Drc1-Sld2

DEAD

Helicase_C

0
200
400
600
800
1000
1208 a.a.

Protein Preferred Names	Protein Names
ATP-dependent DNA helicase Q4	DNA helicase, RecQ-like, type 4

RECQL4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	RECQL4	O94761	TERF1	Homo sapiens	P54274	Pull Down	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
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
B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1	B-All With Etv6-Runx1 B-Lymphoblastic Leukemia/Lymphoma With T(12 21)(P13.2 Q22.1) Etv6-Runx1 B Lymphoblastic Leukemia/Lymphoma With T(12 21)(P13.2 Q22.1) Etv6-Runx1
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
Malignant Fibrous Histiocytoma	Undifferentiated Pleomorphic Sarcoma Ups Histiocytoma, Malignant Fibrous Fibroxanthosarcoma Mfh Malignant Fibrohistiocytic Tumors Histiocytoma, Fibrous, Malignant
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
Poikiloderma With Neutropenia	Poikiloderma With Neutropenia, Clericuzio Type PN Clericuzio Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia, Clericuzio-Type Clericuzio-Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia Clericuzio Type Immune-Deficient Poikiloderma Clericuzio-Type Poikiloderma Neutropenia Syndrome Poikiloderma With Neutropenia Clericuzio-Type Poikiloderma, With Neutropenia
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Skin Atrophy	Atrophic Condition Of Skin Atrophoderma Atrophy - Skin
Hepatoblastoma
Familial Retinoblastoma	Hereditary Retinoblastoma Retinoblastoma
Synostosis
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Autosomal Dominant Intellectual Developmental Disorder 31	Autosomal Dominant Non-Syndromic Intellectual Disability 31 Autosomal Dominant Mental Retardation 31 Mrd31
Neutropenia	Leukopenia
Childhood Osteosarcoma	Pediatric Osteosarcoma
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Pharynx Squamous Cell Carcinoma
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Parosteal Osteosarcoma	Juxtacortical Osteosarcoma Parosteal Osteogenic Sarcoma Osteosarcoma, Juxtacortical
Uterine Adnexa Cancer
Li-Fraumeni Syndrome	Sarcoma Family Syndrome Of Li And Fraumeni Sbla Syndrome LFS Li-Fraumeni Familiar Cancer Susceptibility Syndrome Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome Lfs1 Li Fraumeni Syndrome Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome Lfl Sbla Syndrome Li-Fraumeni-Like Syndrome Li-Fraumeni Syndrome 1
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
Dysostosis	Dysostoses
Telangiectasis	Telangiectasia
Lens Disease	Lens Diseases
Bone Development Disease
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Bone Osteosarcoma	Osteosarcoma Of Bone Primary Osteosarcoma Of Bone
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson 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
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
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders

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 (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS11811	RECQL4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20589	Recql4 Mouse 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
Canis familiaris	RECQL4	VGNC	VGNC:49955
Mus musculus	RECQL4	MGD	MGI:1931028
Macaca mulatta	RECQL4	VGNC	VGNC:76890
Bos taurus	RECQL4	VGNC	VGNC:33849
Rattus norvegicus	RECQL4	RGD	RGD:1307732
Others	RECQL4	NCBI