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RAD54L RAD54 like [ Homo sapiens (human) ]

Gene ID: 8438, updated on 14-Nov-2024

Summary

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Official Symbol
RAD54Lprovided by HGNC
Official Full Name
RAD54 likeprovided by HGNC
Primary source
HGNC:HGNC:9826
See related
Ensembl:ENSG00000085999 MIM:603615; AllianceGenome:HGNC:9826
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HR54; hHR54; RAD54A; hRAD54
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]
Expression
Broad expression in testis (RPKM 5.9), lymph node (RPKM 2.7) and 15 other tissues See more
Orthologs
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Genomic context

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See RAD54L in Genome Data Viewer
Location:
1p34.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46247688..46278473)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46124906..46155694)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46713360..46744145)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene P3R3URF-PIK3R3 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 837 Neighboring gene PIK3R3 upstream open reading frame Neighboring gene tetraspanin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 838 Neighboring gene protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:46683827-46684328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46685102-46685602 Neighboring gene leucine rich adaptor protein 1 Neighboring gene MPRA-validated peak204 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 839 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46750956-46751580 Neighboring gene NANOG hESC enhancer GRCh37_chr1:46764257-46764758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46766628-46767210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46767211-46767793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46768959-46769542 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46769543-46770124 Neighboring gene leucine rich repeat containing 41 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46794429-46795157 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:46795158-46795887 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46795888-46796616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:46797347-46798076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 845 Neighboring gene ubiquinol-cytochrome c reductase hinge protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:46804880-46805679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1000 Neighboring gene MPRA-validated peak205 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:46837735-46837899 Neighboring gene NOP2/Sun RNA methyltransferase 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Shortened telomeres in murine scid cells expressing mutant hRAD54 coincide with reduction in recombination at telomeres. Al-Wahiby S, et al. Mutat Res, 2005 Oct 15. PMID 15975611
  2. Rad54 protein promotes branch migration of Holliday junctions. Bugreev DV, et al. Nature, 2006 Aug 3. PMID 16862129
  3. Severe combined immunodeficient cells expressing mutant hRAD54 exhibit a marked DNA double-strand break repair and error-prone chromosome repair defect. Pluth JM, et al. Cancer Res, 2001 Mar 15. PMID 11289143
  4. hRAD54 gene and 1p high-resolution deletion-mapping analyses in oligodendrogliomas. Bello MJ, et al. Cancer Genet Cytogenet, 2000 Jan 15. PMID 10640146
  5. Interactions of human rad54 protein with branched DNA molecules. Mazina OM, et al. J Biol Chem, 2007 Jul 20. PMID 17545145

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Overexpression of RAD54L attenuates osteoarthritis by suppressing the HIF-1alpha/VEGF signaling pathway: Bioinformatics analysis and experimental validation.
    Title: Overexpression of RAD54L attenuates osteoarthritis by suppressing the HIF-1α/VEGF signaling pathway: Bioinformatics analysis and experimental validation.
  2. DNA repair/recombination protein 54L promotes the progression of lung adenocarcinoma by activating mTORC1 pathway.
    Title: DNA repair/recombination protein 54L promotes the progression of lung adenocarcinoma by activating mTORC1 pathway.
  3. Rad54L promotes bladder cancer progression by regulating cell cycle and cell senescence.
    Title: Rad54L promotes bladder cancer progression by regulating cell cycle and cell senescence.
  4. Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L.
    Title: Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L.
  5. Extended in vitro culture of primary human mesenchymal stem cells downregulates Brca1-related genes and impairs DNA double-strand break recognition.
    Title: Extended in vitro culture of primary human mesenchymal stem cells downregulates Brca1-related genes and impairs DNA double-strand break recognition.
  6. Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological Characteristics on Turkish Cohort.
    Title: Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological Characteristics on Turkish Cohort.
  7. E2F1 Promotes Progression of Bladder Cancer by Modulating RAD54L Involved in Homologous Recombination Repair.
    Title: E2F1 Promotes Progression of Bladder Cancer by Modulating RAD54L Involved in Homologous Recombination Repair.
  8. Nap1 stimulates homologous recombination by RAD51 and RAD54 in higher-ordered chromatin containing histone H1.
    Title: Nap1 stimulates homologous recombination by RAD51 and RAD54 in higher-ordered chromatin containing histone H1.
  9. Data show that the RAD54 N-terminal domain (NTD) is responsible for initiation of branch migration (BM) through two coupled, but distinct steps; specific binding to Holliday junctions and RAD54 oligomerization.
    Title: RAD54 N-terminal domain is a DNA sensor that couples ATP hydrolysis with branch migration of Holliday junctions.
  10. TAF12 and NFYC are transcription factors that regulate the epigenome, whereas RAD54L plays a central role in DNA repair
    Title: Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial cancer of breast
MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
not available
Lymphoma, non-Hodgkin, familial
MedGen: C4721532 OMIM: 605027 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent DNA/DNA annealing activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP-dependent H2AZ histone chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent H3-H4 histone complex chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA clamp loader activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA translocase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chromatin extrusion motor activity IEA
Inferred from Electronic Annotation
more info
  
enables cohesin loader activity IEA
Inferred from Electronic Annotation
more info
  
enables double-stranded DNA helicase activity IEA
Inferred from Electronic Annotation
more info
  
enables forked DNA-dependent helicase activity IEA
Inferred from Electronic Annotation
more info
  
enables four-way junction helicase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded 3'-5' DNA helicase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
  
involved_in DNA recombination TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA repair TAS
Traceable Author Statement
more info
 PubMed 
involved_in chromatin looping IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
  
involved_in double-strand break repair via synthesis-dependent strand annealing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in meiotic cell cycle TAS
Traceable Author Statement
more info
 PubMed 
involved_in reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to ionizing radiation IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of protein-containing complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
DNA repair and recombination protein RAD54-like
Names
RAD54 homolog
NP_001136020.1
NP_001357695.1
NP_003570.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012144.1 RefSeqGene

    Range
    5069..35779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1414

mRNA and Protein(s)

  1. NM_001142548.2 → NP_001136020.1  DNA repair and recombination protein RAD54-like isoform 1

    See identical proteins and their annotated locations for NP_001136020.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK292611, AL121602, BC121060, BM678712, DB048280
    Consensus CDS
    CCDS532.1
    UniProtKB/Swiss-Prot
    Q5TE31, Q6IUY3, Q92698
    UniProtKB/TrEMBL
    A8K996
    Related
    ENSP00000396113.1, ENST00000442598.5
    Conserved Domains (4) summary
    cd00046
    Location:177 → 327
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    pfam00176
    Location:156 → 463
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:495 → 611
    Helicase_C; Helicase conserved C-terminal domain
    pfam08658
    Location:74 → 123
    Rad54_N; Rad54 N terminal

  2. NM_001370766.1 → NP_001357695.1  DNA repair and recombination protein RAD54-like isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL121602
    UniProtKB/TrEMBL
    B4DLX7
    Conserved Domains (2) summary
    COG0553
    Location:1 → 485
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cl28899
    Location:1 → 215
    DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

  3. NM_003579.4 → NP_003570.2  DNA repair and recombination protein RAD54-like isoform 1

    See identical proteins and their annotated locations for NP_003570.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC121060, BM678712, DB449264
    Consensus CDS
    CCDS532.1
    UniProtKB/Swiss-Prot
    Q5TE31, Q6IUY3, Q92698
    UniProtKB/TrEMBL
    A8K996
    Related
    ENSP00000361043.4, ENST00000371975.9
    Conserved Domains (4) summary
    cd00046
    Location:177 → 327
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    pfam00176
    Location:156 → 463
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:495 → 611
    Helicase_C; Helicase conserved C-terminal domain
    pfam08658
    Location:74 → 123
    Rad54_N; Rad54 N terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    46247688..46278473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    46124906..46155694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92698.2 GenPept UniProtKB/Swiss-Prot:Q92698

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools