RAD54L RAD54 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAD54Lprovided by HGNC
Official Full Name: RAD54 likeprovided by HGNC
Primary source: HGNC:HGNC:9826
See related: Ensembl:ENSG00000085999 MIM:603615; AllianceGenome:HGNC:9826
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: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (46247688..46278473)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (46124906..46155694)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (46713360..46744145)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of RAD54L attenuates osteoarthritis by suppressing the HIF-1alpha/VEGF signaling pathway: Bioinformatics analysis and experimental validation.
Title: Overexpression of RAD54L attenuates osteoarthritis by suppressing the HIF-1α/VEGF signaling pathway: Bioinformatics analysis and experimental validation.
DNA repair/recombination protein 54L promotes the progression of lung adenocarcinoma by activating mTORC1 pathway.
Title: DNA repair/recombination protein 54L promotes the progression of lung adenocarcinoma by activating mTORC1 pathway.
Rad54L promotes bladder cancer progression by regulating cell cycle and cell senescence.
Title: Rad54L promotes bladder cancer progression by regulating cell cycle and cell senescence.
Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L.
Title: Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L.
Extended in vitro culture of primary human mesenchymal stem cells downregulates Brca1-related genes and impairs DNA double-strand break recognition.
Title: Extended in vitro culture of primary human mesenchymal stem cells downregulates Brca1-related genes and impairs DNA double-strand break recognition.
Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological Characteristics on Turkish Cohort.
Title: Association of MTHFR, MTRR and RAD54L Gene Variations with Meningioma and Correlation with Tumor's Histopathological Characteristics on Turkish Cohort.
E2F1 Promotes Progression of Bladder Cancer by Modulating RAD54L Involved in Homologous Recombination Repair.
Title: E2F1 Promotes Progression of Bladder Cancer by Modulating RAD54L Involved in Homologous Recombination Repair.
Nap1 stimulates homologous recombination by RAD51 and RAD54 in higher-ordered chromatin containing histone H1.
Title: Nap1 stimulates homologous recombination by RAD51 and RAD54 in higher-ordered chromatin containing histone H1.
Data show that the RAD54 N-terminal domain (NTD) is responsible for initiation of branch migration (BM) through two coupled, but distinct steps; specific binding to Holliday junctions and RAD54 oligomerization.
Title: RAD54 N-terminal domain is a DNA sensor that couples ATP hydrolysis with branch migration of Holliday junctions.
TAF12 and NFYC are transcription factors that regulate the epigenome, whereas RAD54L plays a central role in DNA repair
Title: Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	not available
Lymphoma, non-Hodgkin, familial MedGen: C4721532 OMIM: 605027 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47045 (e-PCR)
- UniSTS:17162

RH93140 (e-PCR)
- UniSTS:88096

RH70950 (e-PCR)
- UniSTS:49004

MARC_7379-7380:996687836:1 (e-PCR)
- UniSTS:269777

RH70932 (e-PCR)
- UniSTS:30162

SHGC-74777 (e-PCR)
- UniSTS:25560

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA/DNA annealing activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA translocase activity	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in DNA recombination	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via synthesis-dependent strand annealing	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in reciprocal meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ionizing radiation	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: DNA repair and recombination protein RAD54-like

Names: RAD54 homolog

NP_001136020.1

EC 3.6.4.12

NP_001357695.1

EC 3.6.4.12

NP_003570.2

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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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

NG_012144.1 RefSeqGene

Range

5069..35779

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1414

mRNA and Protein(s)

NM_001142548.2 → NP_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, AL121602, BC121060, BM678712, DB048280

Consensus CDS

CCDS532.1

UniProtKB/Swiss-Prot

Q5TE31, Q6IUY3, Q92698

UniProtKB/TrEMBL

A8K996

Related

ENSP00000396113.1, ENST00000442598.5

Conserved Domains (4) summary

cd00046
Location:177 → 327

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:156 → 463

SNF2_N; SNF2 family N-terminal domain

pfam00271
Location:495 → 611

Helicase_C; Helicase conserved C-terminal domain

pfam08658
Location:74 → 123

Rad54_N; Rad54 N terminal
NM_001370766.1 → NP_001357695.1 DNA repair and recombination protein RAD54-like isoform 2

Status: REVIEWED

Source sequence(s)

AL121602

UniProtKB/TrEMBL

B4DLX7

Conserved Domains (2) summary

COG0553
Location:1 → 485

HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

cl28899
Location:1 → 215

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
NM_003579.4 → NP_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

Q5TE31, Q6IUY3, Q92698

UniProtKB/TrEMBL

A8K996

Related

ENSP00000361043.4, ENST00000371975.9

Conserved Domains (4) summary

cd00046
Location:177 → 327

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:156 → 463

SNF2_N; SNF2 family N-terminal domain

pfam00271
Location:495 → 611

Helicase_C; Helicase conserved C-terminal domain

pfam08658
Location:74 → 123

Rad54_N; Rad54 N terminal