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RAD54B RAD54 homolog B (S. cerevisiae) [ Homo sapiens (human) ]

Gene ID: 25788, updated on 26-May-2016
Official Symbol
RAD54Bprovided by HGNC
Official Full Name
RAD54 homolog B (S. cerevisiae)provided by HGNC
Primary source
HGNC:HGNC:17228
See related
Ensembl:ENSG00000197275 HPRD:05049; HPRD:09966; MIM:604289; Vega:OTTHUMG00000133658
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]
Orthologs
Location:
8q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105375649 Neighboring gene GTP binding protein overexpressed in skeletal muscle Neighboring gene ribosomal protein S4X pseudogene 10 Neighboring gene fibrinogen silencer binding protein Neighboring gene KIAA1429 Neighboring gene uncharacterized LOC101926977 Neighboring gene ribosomal protein L31 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Homologous recombination, organism-specific biosystem (from WikiPathways)
    Homologous recombination, organism-specific biosystemHomologous recombination, also known as general recombination, is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical strands of DNA. Source:...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
Products Interactant Other Gene Complex Source Pubs Description

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 IDA
Inferred from Direct Assay
more info
PubMed 
RNA helicase activity TAS
Traceable Author Statement
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 IDA
Inferred from Direct Assay
more info
PubMed 
mitotic recombination TAS
Traceable Author Statement
more info
PubMed 
reciprocal meiotic recombination TAS
Traceable Author Statement
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 IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
DNA repair and recombination protein RAD54B

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_012878.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001205262.2NP_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, OTTHUMP00000226606, ENST00000297592, OTTHUMT00000257805
  2. NM_001205263.1NP_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
    Related
    ENSP00000483397, ENST00000611249
    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.
    cd00079
    Location:452582
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:115414
    SNF2_N; SNF2 family N-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, OTTHUMP00000165021, ENST00000336148, OTTHUMT00000257806
    Conserved Domains (3) summary
    cd00046
    Location:321462
    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.
    cd00079
    Location:636766
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:299598
    SNF2_N; SNF2 family N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    95424379..95527598 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.