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    RAD54L RAD54 like [ Homo sapiens (human) ]

    Gene ID: 8438, updated on 28-Oct-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
    mouse all
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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
    		Compare labs
    Lymphoma, non-Hodgkin, familial
    MedGen: C4721532 OMIM: 605027 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 chromatin remodeler activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA translocase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 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 
    Process Evidence Code Pubs
    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 remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome organization 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