RAD54B
DNA repair and recombination protein RAD54B
Also known as: RA54B_HUMAN, RDH54
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y620
- Gene
- RAD54B
- Ensembl
- ENSG00000197275
- Chromosome
- 8
- Canonical length
- 910 aa
- Protein class
- Cancer-related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
910 residues, UniProt reviewed canonical sequence.
>Q9Y620|RAD54B
1 MRRSAAPSQL QGNSFKKPKF IPPGRSNPGL NEEITKLNPD IKLFEGVAIN NTFLPSQNDL
61 RICSLNLPSE ESTREINNRD NCSGKYCFEA PTLATLDPPH TVHSAPKEVA VSKEQEEKSD
121 SLVKYFSVVW CKPSKKKHKK WEGDAVLIVK GKSFILKNLE GKDIGRGIGY KFKELEKIEE
181 GQTLMICGKE IEVMGVISPD DFSSGRCFQL GGGSTAISHS SQVARKCFSN PFKSVCKPSS
241 KENRQNDFQN CKPRHDPYTP NSLVMPRPDK NHQWVFNKNC FPLVDVVIDP YLVYHLRPHQ
301 KEGIIFLYEC VMGMRMNGRC GAILADEMGL GKTLQCISLI WTLQCQGPYG GKPVIKKTLI
361 VTPGSLVNNW KKEFQKWLGS ERIKIFTVDQ DHKVEEFIKS IFYSVLIISY EMLLRSLDQI
421 KNIKFDLLIC DEGHRLKNSA IKTTTALISL SCEKRIILTG TPIQNDLQEF FALIDFVNPG
481 ILGSLSSYRK IYEEPIILSR EPSASEEEKE LGERRAAELT CLTGLFILRR TQEIINKYLP
541 PKIENVVFCR PGALQIELYR KLLNSQVVRF CLQGLLENSP HLICIGALKK LCNHPCLLFN
601 SIKEKECSST CDKNEEKSLY KGLLSVFPAD YNPLLFTEKE SGKLQVLSKL LAVIHELRPT
661 EKVVLVSNYT QTLNILQEVC KRHGYAYTRL DGQTPISQRQ QIVDGFNSQH SSFFIFLLSS
721 KAGGVGLNLI GGSHLILYDI DWNPATDIQA MSRVWRDGQK YPVHIYRLLT TGTIEEKIYQ
781 RQISKQGLCG AVVDLTKTSE HIQFSVEELK NLFTLHESSD CVTHDLLDCE CTGEEVHTGD
841 SLEKFIVSRD CQLGPHHQKS NSLKPLSMSQ LKQWKHFSGD HLNLTDPFLE RITENVSFIF
901 QNITTQATGTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RAD54B 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)
- 0.35
- Highest tissue expression
- 6.4 nTPM
Expression across tissuesHPA
Tissue
- retina: 6.4 nTPM
- fallopian tube: 4.7 nTPM
- thymus: 3.9 nTPM
- testis: 3.3 nTPM
- tonsil: 2.8 nTPM
- lymph node: 2.5 nTPM
Single-cell type
- fallopian tube ciliated cells: 35 nCPM
- erythrocyte progenitors: 29 nCPM
- megakaryocyte progenitors: 24 nCPM
- early primary spermatocytes: 22 nCPM
- differentiating spermatogonia: 18 nCPM
- retinal pigment epithelial cells: 17 nCPM
Immune cell
- MAIT T-cell: 1.9 nTPM
- naive CD8 T-cell: 1.1 nTPM
- naive B-cell: 1 nTPM
- memory CD4 T-cell: 0.9 nTPM
- naive CD4 T-cell: 0.8 nTPM
- memory B-cell: 0.7 nTPM
Brain region
- cerebellum: 4.6 nTPM
- cerebral cortex: 4.5 nTPM
- basal ganglia: 4.3 nTPM
- midbrain: 4.2 nTPM
- choroid plexus: 3.9 nTPM
- thalamus: 3.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RAD54B.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 146 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Disease | ImmuneIEDB
Conditions an epitope on RAD54B was assayed in.
- glioblastoma T cell
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)
- 0.86
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.93
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- determination of adult lifespan
- double-strand break repair via homologous recombination
- homologous recombination
- negative regulation of signal transduction by p53 class mediator
- reciprocal meiotic recombination
- response to ionizing radiation
- response to xenobiotic stimulus
Molecular functions
- ATP binding
- ATP-dependent activity, acting on DNA
- DNA binding
- DNA translocase activity
- helicase activity
- hydrolase activity
- protein-macromolecule adaptor activity
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 RAD54B 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 RAD54B as an antibody target. Whether an autoantibody or antibody against RAD54B could matter depends on whether native RAD54B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RAD54B 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 RAD54B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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