RAD54L
DNA repair and recombination protein RAD54-like
Also known as: hHR54, hRAD54, RAD54_HUMAN, RAD54A
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92698
- Gene
- RAD54L
- Ensembl
- ENSG00000085999
- Chromosome
- 1
- Canonical length
- 747 aa
- Protein class
- Enzymes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homohexamer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
747 residues, UniProt reviewed canonical sequence.
>Q92698|RAD54L
1 MRRSLAPSQL AKRKPEGRSC DDEDWQPGLV TPRKRKSSSE TQIQECFLSP FRKPLSQLTN
61 QPPCLDSSQH EAFIRSILSK PFKVPIPNYQ GPLGSRALGL KRAGVRRALH DPLEKDALVL
121 YEPPPLSAHD QLKLDKEKLP VHVVVDPILS KVLRPHQREG VKFLWECVTS RRIPGSHGCI
181 MADEMGLGKT LQCITLMWTL LRQSPECKPE IDKAVVVSPS SLVKNWYNEV GKWLGGRIQP
241 LAIDGGSKDE IDQKLEGFMN QRGARVSSPI LIISYETFRL HVGVLQKGSV GLVICDEGHR
301 LKNSENQTYQ ALDSLNTSRR VLISGTPIQN DLLEYFSLVH FVNSGILGTA HEFKKHFELP
361 ILKGRDAAAS EADRQLGEER LRELTSIVNR CLIRRTSDIL SKYLPVKIEQ VVCCRLTPLQ
421 TELYKRFLRQ AKPAEELLEG KMSVSSLSSI TSLKKLCNHP ALIYDKCVEE EDGFVGALDL
481 FPPGYSSKAL EPQLSGKMLV LDYILAVTRS RSSDKVVLVS NYTQTLDLFE KLCRARRYLY
541 VRLDGTMSIK KRAKVVERFN SPSSPDFVFM LSSKAGGCGL NLIGANRLVM FDPDWNPAND
601 EQAMARVWRD GQKKTCYIYR LLSAGTIEEK IFQRQSHKKA LSSCVVDEEQ DVERHFSLGE
661 LKELFILDEA SLSDTHDRLH CRRCVNSRQI RPPPDGSDCT SDLAGWNHCT DKWGLRDEVL
721 QAAWDAASTA ITFVFHQRSH EEQRGLRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAD54L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 14 nTPM
Expression across tissuesHPA
Tissue
- thymus: 14 nTPM
- testis: 12 nTPM
- bone marrow: 8.2 nTPM
- tonsil: 7.8 nTPM
- lymph node: 5.1 nTPM
- esophagus: 4.8 nTPM
Single-cell type
- endometrial luminal cells: 489 nCPM
- endometrial glandular cells: 190 nCPM
- epicardial cells: 73 nCPM
- endometrial secretory cells: 49 nCPM
- endometrial ciliated cells: 41 nCPM
- monocyte progenitors: 26 nCPM
Immune cell
- T-reg: 1.1 nTPM
- NK-cell: 0.3 nTPM
- gdT-cell: 0.2 nTPM
- total PBMC: 0.2 nTPM
- memory CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- cerebellum: 5.6 nTPM
- cerebral cortex: 4.8 nTPM
- basal ganglia: 4.5 nTPM
- pons: 4.5 nTPM
- white matter: 4.4 nTPM
- medulla oblongata: 3.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAD54L.
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 1,109 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Inborn genetic diseases
- Premature ovarian failure
- Non-Hodgkin lymphoma
- Colon adenocarcinoma
- Breast ductal adenocarcinoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.97
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.25
- DepMap mean gene effect
- -0.2
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromosome organization
- determination of adult lifespan
- DNA recombination
- DNA repair
- double-strand break repair via homologous recombination
- double-strand break repair via synthesis-dependent strand annealing
- meiotic cell cycle
- reciprocal meiotic recombination
- response to ionizing radiation
- response to xenobiotic stimulus
Molecular functions
- ATP binding
- ATP hydrolysis activity
- ATP-dependent activity, acting on DNA
- ATP-dependent DNA/DNA annealing activity
- DNA helicase activity
- DNA translocase activity
- metal ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SNF2, N-terminal domain
- Helicase, C-terminal domain-like
- Helicase superfamily 1/2, ATP-binding domain
- P-loop containing nucleoside triphosphate hydrolase
- SNF2-like, N-terminal domain superfamily
- SNF2/RAD5-like, C-terminal helicase domain
- SNF2/RAD54 Helicase and DNA Repair
- SNF2-related domain
- Helicase conserved C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RAD54L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RAD54L as an antibody target. Whether an autoantibody or antibody against RAD54L could matter depends on whether native RAD54L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAD54L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RAD54L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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