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RAD54L RAD54 like [ Homo sapiens (human) ]

Gene ID: 8438, updated on 21-Dec-2019

Summary

Official Symbol
RAD54Lprovided by HGNC
Official Full Name
RAD54 likeprovided by HGNC
Primary source
HGNC:HGNC:9826
See related
Ensembl:ENSG00000085999 MIM:603615
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

Genomic context

See RAD54L in Genome Data Viewer
Location:
1p34.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (46247688..46278477)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46713367..46744145)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene P3R3URF-PIK3R3 readthrough Neighboring gene PIK3R3 upstream reading frame Neighboring gene tetraspanin 1 Neighboring gene protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Neighboring gene leucine rich adaptor protein 1 Neighboring gene leucine rich repeat containing 41 Neighboring gene ubiquinol-cytochrome c reductase hinge protein Neighboring gene NOP2/Sun RNA methyltransferase 4

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 translocase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
annealing helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
helicase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA recombination TAS
Traceable Author Statement
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA strand renaturation IEA
Inferred from Electronic Annotation
more info
 
determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair via synthesis-dependent strand annealing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic cell cycle 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
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
DNA repair and recombination protein RAD54-like
Names
RAD54 homolog

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_012144.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001142548.1NP_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, BC121060, BM678712, DB048280
    Consensus CDS
    CCDS532.1
    UniProtKB/Swiss-Prot
    Q92698
    UniProtKB/TrEMBL
    A8K996
    Related
    ENSP00000396113.1, ENST00000442598.5
    Conserved Domains (4) summary
    cd00046
    Location:177327
    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:156463
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:495611
    Helicase_C; Helicase conserved C-terminal domain
    pfam08658
    Location:74123
    Rad54_N; Rad54 N terminal
  2. NM_001370766.1NP_001357695.1  DNA repair and recombination protein RAD54-like isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL121602
    Conserved Domains (2) summary
    COG0553
    Location:1485
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cl28899
    Location:1215
    DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
  3. NM_003579.4NP_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
    Q92698
    Related
    ENSP00000361043.4, ENST00000371975.9
    Conserved Domains (4) summary
    cd00046
    Location:177327
    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:156463
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:495611
    Helicase_C; Helicase conserved C-terminal domain
    pfam08658
    Location:74123
    Rad54_N; Rad54 N terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    46247688..46278477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542299.2XP_011540601.1  DNA repair and recombination protein RAD54-like isoform X2

    See identical proteins and their annotated locations for XP_011540601.1

    Conserved Domains (3) summary
    COG0553
    Location:12407
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd00046
    Location:1069
    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.
    pfam00271
    Location:237353
    Helicase_C; Helicase conserved C-terminal domain
  2. XM_011542300.3XP_011540602.1  DNA repair and recombination protein RAD54-like isoform X2

    See identical proteins and their annotated locations for XP_011540602.1

    Conserved Domains (3) summary
    COG0553
    Location:12407
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    cd00046
    Location:1069
    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.
    pfam00271
    Location:237353
    Helicase_C; Helicase conserved C-terminal domain
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