RAD54L - RAD54 like Gene

Also Known as HR54; hHR54; RAD54A; hRAD54

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8438

About RAD54L

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:46,247,688-46,278,473 (from NCBI)

This gene has 21 transcripts (splice variants), 197 orthologues, 30 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 5.9), lymph node (RPKM 2.7) and 15 other tissues.

Summary

The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]

RAD54L Products (3)

mRNA	Protein	Name
NM_001142548.2	NP_001136020.1	DNA repair and recombination protein RAD54-like isoform 1
NM_001370766.1	NP_001357695.1	DNA repair and recombination protein RAD54-like isoform 2
NM_003579.4	NP_003570.2	DNA repair and recombination protein RAD54-like isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables ATP-dependent DNA/DNA annealing activity	IDA IDA: Inferred from direct assay	22705370	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16990250	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	16990250	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

RAD54L Protein Structure

Rad54_N

SNF2_N

Helicase_C

0
200
400
600
747 a.a.

Protein Preferred Names	Protein Names
DNA repair and recombination protein RAD54-like	RAD54 homolog

RAD54L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	RAD54L	Q92698	TNKS2	Homo sapiens	Q9H2K2	Anti Tag CoIP	22153077
Intra	RAD54L	Q92698	TNKS2	Homo sapiens	Q9H2K2	FPS	22153077
Intra	RAD54L	Q92698	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma Lymphoma, Non-Hodgkin NHL Lymphoma, Non-Hodgkin, Somatic Lymphoma, Follicular, Somatic Familial Non-Hodgkin Lymphoma Lymphoma Non-Hodgkins Follicular Lymphoma, Somatic Lymphosarcoma Non-Hodgkins Lymphoma
Breast Ductal Carcinoma	Ductal Breast Carcinoma Duct Carcinoma Carcinoma, Ductal Mammary Ductal Carcinoma Ductal Carcinoma
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Colon Adenocarcinoma	Adenocarcinoma Of Colon Adenocarcinoma Of The Colon Colonic Adenocarcinoma
Hereditary Breast Cancer	Familial Breast Cancer Familial Breast Carcinoma Hereditary Breast Carcinoma
Choroid Plexus Cancer	Choroid Plexus Carcinoma Choroid Plexus Neoplasms Choroid Plexus Neoplasm Tumor Of Choroid Plexus Tumor Of The Choroid Plexus Choroid Plexus Tumor Choroid Plexus Tumors Anaplastic Choroid Plexus Papilloma Choroid Plexus Papilloma Nos Papilloma Of Choroid Plexus Plexus Choroideus Papilloma Choroid Plexus Papilloma In Fourth Ventricle Plexus Choroideus Papilloma In Fourth Ventricle
Familial Adenomatous Polyposis 3	FAP3 Nthl1-Related Attenuated Familial Adenomatous Polyposis Nthl1-Related Afap Nthl1-Related Attenuated Fap
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
Atypical Choroid Plexus Papilloma	Atypical Papilloma Of Choroid Plexus Atypical Cpp
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
Parkinson Disease 2, Autosomal Recessive Juvenile	Young-Onset Parkinson Disease PARK2 Pdj Autosomal Recessive Juvenile Parkinson Disease 2 Epdf Parkinson Disease, Juvenile, Type 2 Parkinson'S Disease 2 Autosomal Recessive Juvenile Parkinson Disease Early-Onset Parkinson Disease Parkinson Disease 2 Parkinson Disease, Juvenile, Autosomal Recessive Parkinsonism, Early-Onset, With Diurnal Fluctuation Autosomal Recessive Juvenile Parkinson'S Disease 2 Jp Juvenile Parkinsonism Parkinson Disease Autosomal Recessive, Early Onset Parkinsonism, Early Onset, With Diurnal Fluctuation Yopd Autosomal Recessive Early-Onset Parkinson Disease Type 2 Chromosome 6-Linked Autosomal Recessive Parkinsonism Early-Onset Parkinsonism With Diurnal Fluctuation Parkinsonism Young Adult Onset Parkinson Disease, Type 2 Parkinsonism, Juvenile
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

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01252	ATRX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11612	RAD54L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11613	RAD54L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19577	Atrx Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RAD54L	VGNC	VGNC:80335
Canis familiaris	RAD54L	VGNC	VGNC:49611
Macaca mulatta	RAD54L	VGNC	VGNC:100050
Bos taurus	RAD54L	VGNC	VGNC:49567
Mus musculus	RAD54L	MGD	MGI:894697
Rattus norvegicus	RAD54L	RGD	RGD:1310600
Others	RAD54L	NCBI