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RAD54B RAD54 homolog B [ Homo sapiens (human) ]

Gene ID: 25788, updated on 24-Nov-2020

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
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

Genomic context

See RAD54B in Genome Data Viewer
Location:
8q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (94371960..94475115, complement)
105 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 ribosomal protein S4X pseudogene 10 Neighboring gene fibrinogen silencer binding protein Neighboring gene vir like m6A methyltransferase associated Neighboring gene uncharacterized LOC101926977 Neighboring gene ribosomal protein L31 pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity TAS
Traceable Author Statement
more info
PubMed 
DNA translocase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA translocase activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA helicase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
mitotic recombination TAS
Traceable Author Statement
more info
PubMed 
reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to ionizing radiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
DNA repair and recombination protein RAD54B

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    O95073
    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
    Consensus CDS
    CCDS75768.1
    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
    Q9Y620
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    94371960..94475115 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.
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