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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]
RAD54L (RAD54 Like) is a Protein Coding gene. Diseases associated with RAD54L include Lymphoma, Non-Hodgkin, Familial and Breast Ductal Carcinoma. Among its related pathways are Resolution of D-loop Structures through Holliday Junction Intermediates and DNA Damage. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is RAD54B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003678 | DNA helicase activity | IEA | -- |
GO:0004386 | helicase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 16990250 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0032991 | protein-containing complex | IMP | 16990250 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Damage | ||
2 | Resolution of D-loop Structures through Holliday Junction Intermediates | ||
3 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000724 | double-strand break repair via homologous recombination | IEA | -- |
GO:0000733 | DNA strand renaturation | IEA | -- |
GO:0006281 | DNA repair | TAS | 8805304 |
GO:0006302 | double-strand break repair | IEA | -- |
GO:0006310 | DNA recombination | TAS | 8805304 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAD54L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAD54L 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAD54L 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rad54l 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rad54l 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RAD54L 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAD54L 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAD54L 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAD54L 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rad54l 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rad54l 30 31 |
|
OneToOne | |
zgc56289 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008748 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | okr 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | rad-54 30 31 |
|
OneToOne | |
Y116A8C.13 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD54 30 31 33 |
|
OneToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL297W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A03069g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RAD54 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0762800 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11255 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rhp54 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1041 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
929734 | Pathogenic: Premature ovarian failure | 46,270,754(+) |
C/T NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) |
MISSENSE | |
929735 | Likely Pathogenic: Premature ovarian failure | 46,277,830(+) |
A/C NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala) |
MISSENSE | |
929736 | Likely Pathogenic: Premature ovarian failure | 46,277,847(+) |
C/T NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys) |
MISSENSE | |
rs121908688 | Pathogenic: Colon adenocarcinoma. A colon adenocarcinoma sample | 46,250,097(+) |
C/Ap.Pro63His NM_003579.4(RAD54L):c.188C>A (p.Pro63His) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs121908689 | Pathogenic: Non-Hodgkin lymphoma. A non-Hodgkin lymphoma sample | 46,272,758(+) |
T/Ap.Val444Glu NM_003579.4(RAD54L):c.1331T>A (p.Val444Glu) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2761743 | CNV | gain | 21179565 |
esv3585930 | CNV | gain | 21293372 |
esv3585931 | CNV | gain | 21293372 |
nsv470711 | CNV | gain | 18288195 |
nsv829748 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lymphoma, non-hodgkin, familial |
|
|
breast ductal carcinoma |
|
|
breast cancer |
|
|
premature menopause |
|
|
premature ovarian failure 1 |
|
|