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... See more...

Aliases for RAD54L Gene

Aliases for RAD54L Gene

  • RAD54 Like 2 3 5
  • DNA Repair And Recombination Protein RAD54-Like 3 4
  • RAD54 Homolog 3 4
  • RAD54A 3 4
  • HRAD54 3 4
  • HHR54 3 4
  • RAD54 Like (S. Cerevisiae) 2
  • RAD54 (S.Cerevisiae)-Like 2
  • HSALNG0003313 167
  • NONHSAG001331 92
  • Lnc-RAD54L-3 168
  • EC 3.6.4.- 4
  • EC 3.6.1 52
  • HR54 3

External Ids for RAD54L Gene

Previous GeneCards Identifiers for RAD54L Gene

  • GC01P046407
  • GC01P045670
  • GC01P046099
  • GC01P046083
  • GC01P046425
  • GC01P046485
  • GC01P046713
  • GC01P044829
  • GC01P046248

Summaries for RAD54L Gene

Entrez Gene Summary for RAD54L Gene

  • 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]

GeneCards Summary for RAD54L Gene

RAD54L (RAD54 Like) is a Protein Coding gene. Diseases associated with RAD54L include Lymphoma, Non-Hodgkin, Familial and Breast Ductal Carcinoma. Among its related pathways are Integrated Breast Cancer Pathway and DNA Damage. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is RAD54B.

UniProtKB/Swiss-Prot Summary for RAD54L Gene

  • Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52) pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and telomere capping in mammalian cells.

Gene Wiki entry for RAD54L Gene

Additional gene information for RAD54L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAD54L Gene

Genomics for RAD54L Gene

GeneHancer (GH) Regulatory Elements for RAD54L Gene

Promoters and enhancers for RAD54L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAD54L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAD54L

Top Transcription factor binding sites by QIAGEN in the RAD54L gene promoter:
  • CUTL1
  • NF-1
  • NF-1/L
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • YY1

Genomic Locations for RAD54L Gene

Genomic Locations for RAD54L Gene
chr1:46,246,461-46,278,480
(GRCh38/hg38)
Size:
32,020 bases
Orientation:
Plus strand
chr1:46,713,360-46,744,145
(GRCh37/hg19)
Size:
30,786 bases
Orientation:
Plus strand

Genomic View for RAD54L Gene

Genes around RAD54L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD54L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD54L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD54L Gene

Proteins for RAD54L Gene

  • Protein details for RAD54L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92698-RAD54_HUMAN
    Recommended name:
    DNA repair and recombination protein RAD54-like
    Protein Accession:
    Q92698
    Secondary Accessions:
    • Q5TE31
    • Q6IUY3

    Protein attributes for RAD54L Gene

    Size:
    747 amino acids
    Molecular mass:
    84352 Da
    Quaternary structure:
    • Interacts (via N-terminus) with RAD51.

neXtProt entry for RAD54L Gene

Selected DME Specific Peptides for RAD54L Gene

Q92698:
  • GTIEEKI
  • DEMGLGKT
  • LRPHQREG
  • DILSKYLPVK
  • MGLGKTL
  • LMWTLLRQ
  • RVWRDGQK

Post-translational modifications for RAD54L Gene

  • Ubiquitination at Lys302
  • Modification sites at PhosphoSitePlus

Domains & Families for RAD54L Gene

Gene Families for RAD54L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAD54L Gene

Blocks:
  • SNF2 related domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAD54L Gene

GenScript: Design optimal peptide antigens:
  • RAD54 homolog (RAD54_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92698

UniProtKB/Swiss-Prot:

RAD54_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with RAD54L: view

Function for RAD54L Gene

Molecular function for RAD54L Gene

UniProtKB/Swiss-Prot Function:
Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52) pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and telomere capping in mammalian cells.
UniProtKB/Swiss-Prot Induction:
Expression increases approximately 3-fold in late G1 phase compared to other phases of the cell cycle.
GENATLAS Biochemistry:
yeast (S cerevisiae) RAD54 homolog,93kDa,SNF2/SW12 family,highly expressed in organs of germ cells and lymphoid development,recombinational protein associated with RAD51,involved in nucleotide excision repair of double-strand break and in meiotic recombination,RAD52 epistasis group,localized in a region of high loss of heterozygosity in breast cancer,potential tumor suppressor in parathyroid adenomas (see TSG1J) and in breast cancer with poor prognosis

Enzyme Numbers (IUBMB) for RAD54L Gene

Phenotypes From GWAS Catalog for RAD54L Gene

Gene Ontology (GO) - Molecular Function for RAD54L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 16990250
GO:0005524 ATP binding IEA --
GO:0015616 DNA translocase activity IBA 21873635
genes like me logo Genes that share ontologies with RAD54L: view
genes like me logo Genes that share phenotypes with RAD54L: view

Human Phenotype Ontology for RAD54L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAD54L Gene

MGI Knock Outs for RAD54L:

miRNA for RAD54L Gene

miRTarBase miRNAs that target RAD54L

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for RAD54L Gene

Localization for RAD54L Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD54L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAD54L gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAD54L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,TAS 21873635
GO:0005654 nucleoplasm IDA --
GO:0032991 protein-containing complex IMP 16990250
genes like me logo Genes that share ontologies with RAD54L: view

Pathways & Interactions for RAD54L Gene

genes like me logo Genes that share pathways with RAD54L: view

Pathways by source for RAD54L Gene

1 BioSystems pathway for RAD54L Gene
1 KEGG pathway for RAD54L Gene
1 Cell Signaling Technology pathway for RAD54L Gene

Gene Ontology (GO) - Biological Process for RAD54L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IEA --
GO:0000733 DNA strand renaturation IEA --
GO:0006281 DNA repair TAS 8805304
GO:0006302 double-strand break repair IEA --
GO:0006310 DNA recombination TAS 8805304
genes like me logo Genes that share ontologies with RAD54L: view

No data available for SIGNOR curated interactions for RAD54L Gene

Drugs & Compounds for RAD54L Gene

(3) Drugs for RAD54L Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 51
Poly(ADP-ribose) Polymerase Inhibitors Pharma 585
genes like me logo Genes that share compounds with RAD54L: view

Transcripts for RAD54L Gene

mRNA/cDNA for RAD54L Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
3 RNACentral transcripts :
1 NONCODE transcripts :
1 LncBook transcripts :
1 LNCipedia transcripts :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAD54L Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1:
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for RAD54L Gene

GeneLoc Exon Structure for
RAD54L

Expression for RAD54L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAD54L Gene

mRNA differential expression in normal tissues according to GTEx for RAD54L Gene

This gene is overexpressed in Testis (x6.9).

Protein differential expression in normal tissues from HIPED for RAD54L Gene

This gene is overexpressed in Cerebrospinal fluid (35.2), Neutrophil (15.3), Colon (7.2), and Synovial fluid (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAD54L Gene



Protein tissue co-expression partners for RAD54L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAD54L

SOURCE GeneReport for Unigene cluster for RAD54L Gene:

Hs.642042

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD54L Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • reproductive
  • skeletal muscle
Regions:
Thorax:
  • breast
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with RAD54L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for RAD54L Gene

Orthologs for RAD54L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAD54L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAD54L 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAD54L 31 30
  • 91.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAD54L 31 30
  • 91.33 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rad54l 17 31 30
  • 89.54 (n)
rat
(Rattus norvegicus)
Mammalia Rad54l 30
  • 88.2 (n)
oppossum
(Monodelphis domestica)
Mammalia RAD54L 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAD54L 31
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAD54L 31 30
  • 76.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAD54L 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad54l 30
  • 73.41 (n)
zebrafish
(Danio rerio)
Actinopterygii rad54l 31 30
  • 72 (n)
OneToOne
zgc56289 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008748 30
  • 61.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta okr 31 32 30
  • 58.02 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rad-54 31 30
  • 56.84 (n)
OneToOne
Y116A8C.13 32
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD54 33 31 30
  • 54.26 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL297W 30
  • 53.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03069g 30
  • 53.12 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RAD54 30
  • 53.41 (n)
rice
(Oryza sativa)
Liliopsida Os02g0762800 30
  • 54.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 63 (a)
OneToOne
Cin.1041 30
bread mold
(Neurospora crassa)
Ascomycetes NCU11255 30
  • 57.38 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rhp54 30
  • 54.81 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1041 30
Species where no ortholog for RAD54L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAD54L Gene

ENSEMBL:
Gene Tree for RAD54L (if available)
TreeFam:
Gene Tree for RAD54L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAD54L: view image

Paralogs for RAD54L Gene

(3) SIMAP similar genes for RAD54L Gene using alignment to 4 proteins:

  • RAD54_HUMAN
  • L8E913_HUMAN
  • V9GYD3_HUMAN
  • V9GYX6_HUMAN
genes like me logo Genes that share paralogs with RAD54L: view

Variants for RAD54L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAD54L Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
801487 Uncertain Significance: Non-Hodgkin lymphoma 46,261,290(+) G/C MISSENSE_VARIANT
801488 Likely Benign: Non-Hodgkin lymphoma 46,261,382(+) C/T SYNONYMOUS_VARIANT
801489 Uncertain Significance: Non-Hodgkin lymphoma 46,277,816(+) G/A SPLICE_ACCEPTOR_VARIANT
rs121908688 Pathogenic: Adenocarcinoma of the colon. A colon adenocarcinoma sample 46,250,097(+) C/Ap.Pro63His MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs121908689 Pathogenic: Non-Hodgkin lymphoma. A non-Hodgkin lymphoma sample 46,272,758(+) T/Ap.Val444Glu MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAD54L Gene

Structural Variations from Database of Genomic Variants (DGV) for RAD54L Gene

Variant ID Type Subtype PubMed ID
esv2761743 CNV gain 21179565
esv3585930 CNV gain 21293372
esv3585931 CNV gain 21293372
nsv470711 CNV gain 18288195
nsv829748 CNV loss 17160897

Variation tolerance for RAD54L Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAD54L Gene

Human Gene Mutation Database (HGMD)
RAD54L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD54L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD54L Gene

Disorders for RAD54L Gene

MalaCards: The human disease database

(11) MalaCards diseases for RAD54L Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphoma, non-hodgkin, familial
  • non-hodgkin lymphoma; nhl
breast ductal carcinoma
  • duct carcinoma
colon adenocarcinoma
  • adenocarcinoma of colon
breast cancer
  • breast cancer, familial
choroid plexus cancer
  • choroid plexus neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RAD54L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAD54L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAD54L Gene

Publications for RAD54L Gene

  1. Homologous DNA pairing by human recombination factors Rad51 and Rad54. (PMID: 12205100) Sigurdsson S … Sung P (The Journal of biological chemistry 2002) 3 4 23 54
  2. The architecture of the human Rad54-DNA complex provides evidence for protein translocation along DNA. (PMID: 11459989) Ristic D … Kanaar R (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 23 54
  3. Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors. (PMID: 9192813) Rasio D … Croce CM (Cancer research 1997) 3 4 23 54
  4. Human and mouse homologs of the Saccharomyces cerevisiae RAD54 DNA repair gene: evidence for functional conservation. (PMID: 8805304) Kanaar R … Hoeijmakers JH (Current biology : CB 1996) 2 3 4 54
  5. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PMID: 20496165) Monsees GM … Han J (Breast cancer research and treatment 2011) 3 41 54

Products for RAD54L Gene

Sources for RAD54L Gene