RAD54L (RAD54 like)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8438
Gene name RAD54 like
Gene symbol RAD54L
Synonyms (NCBI Gene)
HR54RAD54AhHR54hRAD54
Chromosome 1
Chromosome location 1p34.1
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 pla
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs121908688 C>A Pathogenic 5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121908689 T>A Pathogenic Missense variant, coding sequence variant
rs121908690 G>A Pathogenic Missense variant, coding sequence variant
rs374567435 C>T Likely-pathogenic Coding sequence variant, missense variant
rs797044888 G>A,T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT028893 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0003677 Function DNA binding IEA
GO:0004386 Function Helicase activity IEA
GO:0005515 Function Protein binding IPI 16990250, 22153077, 25416956, 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603615 9826 ENSG00000085999
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92698
Protein name DNA repair and recombination protein RAD54-like (EC 3.6.4.12) (RAD54 homolog) (hHR54) (hRAD54)
Protein function Plays an essential role in homologous recombination (HR) which is a major pathway for repairing DNA double-strand breaks (DSBs), single-stranded DNA (ssDNA) gaps, and stalled or collapsed replication forks (PubMed:11459989, PubMed:12205100, PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00176 SNF2_N 156 → 463 SNF2 family N-terminal domain Family
PF00271 Helicase_C 496 → 611 Helicase conserved C-terminal domain Family
Sequence 
MRRSLAPSQLAKRKPEGRSCDDEDWQPGLVTPRKRKSSSETQIQECFLSPFRKPLSQLTN
QPPCLDSSQHEAFIRSILSKPFKVPIPNYQGPLGSRALGLKRAGVRRALHDPLEKDALVL
YEPPPLSAHDQLKLDKEKLPVHVVVDPILSKVLRPHQREGVKFLWECVTSRRIPGSHGCI
MADEMGLGKTLQCITLMWTLLRQSPECKPEIDKAVVVSPSSLVKNWYNEVGKWLGGRIQP
LAIDGGSKDEIDQKLEGFMNQRGARVSSPILIISYETFRLHVGVLQKGSVGLVICDEGHR
LKNSENQTYQALDSLNTSRRVLISGTPIQNDLLEYFSLVHFVNSGILGTAHEFKKHFELP
ILKGRDAAASEADRQLGEERLRELTSIVNRCLIRRTSDILSKYLPVKIEQVVCCRLTPLQ
TELYKRFLRQAKPAEELLEGKMSVSSLSSITSLKKLCNHPALIYDKCVEEEDGFVGALDL
FPPGYSSKALEPQLSGKMLVLDYILAVTRSRSSDKVVLVSNYTQTLDLFEKLCRARRYLY
VRLDGTMSIKKRAKVVERFNSPSSPDFVFMLSSKAGGCGLNLIGANRLVMFDPDWNPAND
EQAMARVWRDGQKKTCYIYRLLSAGTIEEKIFQRQSHKKALSSCVVDEEQDVERHFSLGE
LKELFILDEASLSDTHDRLHCRRCVNSRQIRPPPDGSDCTSDLAGWNHCTDKWGLRDEVL
QAAWDAASTAITFVFHQRSHEEQRGLR
Sequence length 747
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Homologous recombination  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
101
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Breast ductal adenocarcinoma Pathogenic rs121908690 RCV000006570
Colon adenocarcinoma Pathogenic rs121908688 RCV000006568
Familial cancer of breast Likely pathogenic rs776226854 RCV003448727
Non-Hodgkin lymphoma Pathogenic rs121908689 RCV000006569
Show/Hide Unknown Diseases (16)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Astrocytoma IDH-mutant Uncertain significance rs762922483 RCV003313905
Cervical cancer Benign; Likely benign rs28363192, rs141167466, rs61239976 RCV005929906
RCV005929915
RCV005929952
Clear cell carcinoma of kidney Benign; Likely benign rs28363192 RCV005929907
Colorectal cancer Benign; Likely benign rs28363192 RCV005929908
Show/Hide Text Mining Associations (24)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Neoplasms Associate 29287594
Breast Neoplasms Associate 10507777, 12614485, 29287594, 32932728, 34282249
Carcinoma Non Small Cell Lung Associate 21412013
Carcinoma Non Small Cell Lung Stimulate 33658396
Colonic Neoplasms Associate 32758138
Colorectal Neoplasms Associate 26046797, 32758138, 35567913
Dermatitis Contact Associate 33318199
Drug Hypersensitivity Associate 33318199
Esophageal Squamous Cell Carcinoma Associate 23504502
Hereditary Breast and Ovarian Cancer Syndrome Associate 33326660, 35893033