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    RAD54B RAD54 homolog B [ Homo sapiens (human) ]

    Gene ID: 25788, updated on 5-Mar-2024

    Summary

    Official Symbol
    RAD54Bprovided by HGNC
    Official Full Name
    RAD54 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:17228
    See related
    Ensembl:ENSG00000197275 MIM:604289; AllianceGenome:HGNC:17228
    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
    RDH54
    Summary
    The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 1.8), prostate (RPKM 1.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See RAD54B in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94371960..94475115, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95496851..95599948, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95384188..95487343, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986896 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:95319922-95321121 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:95353266-95353915 Neighboring gene ribosomal protein S4X pseudogene 10 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:95447028-95447528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19366 Neighboring gene NANOG hESC enhancer GRCh37_chr8:95456748-95457280 Neighboring gene fibrinogen silencer binding protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:95480258-95480884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:95480885-95481510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27631 Neighboring gene vir like m6A methyltransferase associated Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:95546863-95547362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27632 Neighboring gene ribosomal protein L31 pseudogene Neighboring gene VIRMA divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent chromatin remodeler activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA translocase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA translocase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables hydrolase activity 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 duplex unwinding 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 homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitotic recombination 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
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    DNA repair and recombination protein RAD54B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012878.2 RefSeqGene

      Range
      4968..108123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001205262.3NP_001192191.1  DNA repair and recombination protein RAD54B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several coding exons and uses an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC023632, BC033710, BP872374
      Consensus CDS
      CCDS56546.1
      UniProtKB/TrEMBL
      E5RI14
      Related
      ENSP00000430153.2, ENST00000297592.5
    2. NM_001205263.2NP_001192192.1  DNA repair and recombination protein RAD54B isoform 3

      See identical proteins and their annotated locations for NP_001192192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks 5' several exons but uses an alternate 5' exon, and it thus differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK307516, BC001965, DA553267
      UniProtKB/Swiss-Prot
      Q9Y620
      UniProtKB/TrEMBL
      A0A087X0H2
      Conserved Domains (3) summary
      cd00046
      Location:137278
      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:115414
      SNF2_N; SNF2 family N-terminal domain
      pfam00271
      Location:457574
      Helicase_C; Helicase conserved C-terminal domain
    3. NM_012415.3NP_036547.1  DNA repair and recombination protein RAD54B isoform 1

      See identical proteins and their annotated locations for NP_036547.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC001965, BP872374
      Consensus CDS
      CCDS6262.1
      UniProtKB/Swiss-Prot
      F6WBS8, Q9Y620
      UniProtKB/TrEMBL
      A8K322
      Related
      ENSP00000336606.5, ENST00000336148.10
      Conserved Domains (1) summary
      COG0553
      Location:296815
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      94371960..94475115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      95496851..95599948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006550.1: Suppressed sequence

      Description
      NM_006550.1: This RefSeq was permanently suppressed because there is insufficient support for the transcript and the protein is not supported by current protein homology data.
    2. NM_134434.1: Suppressed sequence

      Description
      NM_134434.1: This RefSeq was permanently suppressed because the transcript and the protein are unsupported.