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Protein

DNA repair and recombination protein RAD54-like

Gene

RAD54L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52) pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and telomere capping in mammalian cells.By similarity3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi183 – 190ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • annealing helicase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: UniProtKB-KW
  • helicase activity Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
DNA repair and recombination protein RAD54-like (EC:3.6.4.-)
Alternative name(s):
RAD54 homolog
Short name:
hHR54
Short name:
hRAD54
Gene namesi
Name:RAD54L
Synonyms:RAD54A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000085999.11
HGNCiHGNC:9826 RAD54L
MIMi603615 gene
neXtProtiNX_Q92698

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi189K → R: Unable to rescue the MMS-sensitive phenotype of S cerevisiae rad54delta cells. 1 Publication1

Organism-specific databases

DisGeNETi8438
MalaCardsiRAD54L
OpenTargetsiENSG00000085999
Orphaneti227535 Hereditary breast cancer
PharmGKBiPA34181

Chemistry databases

ChEMBLiCHEMBL2146297

Polymorphism and mutation databases

BioMutaiRAD54L
DMDMi51316508

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000743371 – 747DNA repair and recombination protein RAD54-likeAdd BLAST747

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei38PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ92698
MaxQBiQ92698
PaxDbiQ92698
PeptideAtlasiQ92698
PRIDEiQ92698
ProteomicsDBi75414

PTM databases

iPTMnetiQ92698
PhosphoSitePlusiQ92698

Expressioni

Inductioni

Expression increases approximately 3-fold in late G1 phase compared to other phases of the cell cycle.

Gene expression databases

BgeeiENSG00000085999 Expressed in 111 organ(s), highest expression level in testis
CleanExiHS_RAD54L
ExpressionAtlasiQ92698 baseline and differential
GenevisibleiQ92698 HS

Organism-specific databases

HPAiHPA028954
HPA051537

Interactioni

Subunit structurei

Interacts (via N-terminus) with RAD51.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi114018, 7 interactors
DIPiDIP-48628N
ELMiQ92698
IntActiQ92698, 8 interactors
STRINGi9606.ENSP00000361043

Chemistry databases

BindingDBiQ92698

Structurei

3D structure databases

ProteinModelPortaliQ92698
SMRiQ92698
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini170 – 345Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST176
Domaini500 – 653Helicase C-terminalPROSITE-ProRule annotationAdd BLAST154

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 9Required for chromatin remodeling, strand pairing activities and coupling of ATPase activityBy similarity8

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi296 – 299DEGH box4

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Phylogenomic databases

eggNOGiKOG0390 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00920000149014
HOGENOMiHOG000204521
HOVERGENiHBG058654
InParanoidiQ92698
KOiK10875
OMAiNILRPHQ
OrthoDBiEOG091G01Z3
PhylomeDBiQ92698
TreeFamiTF101224

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q92698-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRRSLAPSQL AKRKPEGRSC DDEDWQPGLV TPRKRKSSSE TQIQECFLSP
60 70 80 90 100
FRKPLSQLTN QPPCLDSSQH EAFIRSILSK PFKVPIPNYQ GPLGSRALGL
110 120 130 140 150
KRAGVRRALH DPLEKDALVL YEPPPLSAHD QLKLDKEKLP VHVVVDPILS
160 170 180 190 200
KVLRPHQREG VKFLWECVTS RRIPGSHGCI MADEMGLGKT LQCITLMWTL
210 220 230 240 250
LRQSPECKPE IDKAVVVSPS SLVKNWYNEV GKWLGGRIQP LAIDGGSKDE
260 270 280 290 300
IDQKLEGFMN QRGARVSSPI LIISYETFRL HVGVLQKGSV GLVICDEGHR
310 320 330 340 350
LKNSENQTYQ ALDSLNTSRR VLISGTPIQN DLLEYFSLVH FVNSGILGTA
360 370 380 390 400
HEFKKHFELP ILKGRDAAAS EADRQLGEER LRELTSIVNR CLIRRTSDIL
410 420 430 440 450
SKYLPVKIEQ VVCCRLTPLQ TELYKRFLRQ AKPAEELLEG KMSVSSLSSI
460 470 480 490 500
TSLKKLCNHP ALIYDKCVEE EDGFVGALDL FPPGYSSKAL EPQLSGKMLV
510 520 530 540 550
LDYILAVTRS RSSDKVVLVS NYTQTLDLFE KLCRARRYLY VRLDGTMSIK
560 570 580 590 600
KRAKVVERFN SPSSPDFVFM LSSKAGGCGL NLIGANRLVM FDPDWNPAND
610 620 630 640 650
EQAMARVWRD GQKKTCYIYR LLSAGTIEEK IFQRQSHKKA LSSCVVDEEQ
660 670 680 690 700
DVERHFSLGE LKELFILDEA SLSDTHDRLH CRRCVNSRQI RPPPDGSDCT
710 720 730 740
SDLAGWNHCT DKWGLRDEVL QAAWDAASTA ITFVFHQRSH EEQRGLR
Length:747
Mass (Da):84,352
Last modified:August 16, 2004 - v2
Checksum:i718100974CA6687B
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
V9GYX6V9GYX6_HUMAN
DNA repair and recombination protei...
RAD54L
202Annotation score:
A0A087WTB0A0A087WTB0_HUMAN
DNA repair and recombination protei...
RAD54L
256Annotation score:
A0A087WVW5A0A087WVW5_HUMAN
DNA repair and recombination protei...
RAD54L
68Annotation score:
A0A087WW72A0A087WW72_HUMAN
DNA repair and recombination protei...
RAD54L
75Annotation score:
V9GYD3V9GYD3_HUMAN
DNA repair and recombination protei...
RAD54L
321Annotation score:
A0A087X124A0A087X124_HUMAN
DNA repair and recombination protei...
RAD54L
60Annotation score:
A0A087WV39A0A087WV39_HUMAN
DNA repair and recombination protei...
RAD54L
112Annotation score:
A0A087WWG5A0A087WWG5_HUMAN
DNA repair and recombination protei...
RAD54L
30Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti738R → H in CAA66379 (PubMed:8805304).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05536321D → G1 PublicationCorresponds to variant dbSNP:rs28363192Ensembl.1
Natural variantiVAR_01955963P → H in a colon adenocarcinoma sample. 1 PublicationCorresponds to variant dbSNP:rs121908688EnsemblClinVar.1
Natural variantiVAR_05536474I → M1 PublicationCorresponds to variant dbSNP:rs28363209Ensembl.1
Natural variantiVAR_019560151K → E1 PublicationCorresponds to variant dbSNP:rs2295466Ensembl.1
Natural variantiVAR_055365202R → C1 PublicationCorresponds to variant dbSNP:rs28363218Ensembl.1
Natural variantiVAR_019561325G → R in a breast cancer sample; invasive ductal. 1 PublicationCorresponds to variant dbSNP:rs121908690EnsemblClinVar.1
Natural variantiVAR_055366380R → Q1 PublicationCorresponds to variant dbSNP:rs28363234Ensembl.1
Natural variantiVAR_019562444V → E in a non-Hodgkin lymphoma sample. 1 PublicationCorresponds to variant dbSNP:rs121908689EnsemblClinVar.1
Natural variantiVAR_055367534R → C1 PublicationCorresponds to variant dbSNP:rs28363240Ensembl.1
Natural variantiVAR_055368583I → T1 PublicationCorresponds to variant dbSNP:rs28363243Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X97795 mRNA Translation: CAA66379.1
AY623117 Genomic DNA Translation: AAT38113.1
AL121602 Genomic DNA No translation available.
BC121059 mRNA Translation: AAI21060.1
BC121060 mRNA Translation: AAI21061.1
CCDSiCCDS532.1
RefSeqiNP_001136020.1, NM_001142548.1
NP_003570.2, NM_003579.3
UniGeneiHs.642042

Genome annotation databases

EnsembliENST00000371975; ENSP00000361043; ENSG00000085999
ENST00000442598; ENSP00000396113; ENSG00000085999
GeneIDi8438
KEGGihsa:8438
UCSCiuc001cpl.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X97795 mRNA Translation: CAA66379.1
AY623117 Genomic DNA Translation: AAT38113.1
AL121602 Genomic DNA No translation available.
BC121059 mRNA Translation: AAI21060.1
BC121060 mRNA Translation: AAI21061.1
CCDSiCCDS532.1
RefSeqiNP_001136020.1, NM_001142548.1
NP_003570.2, NM_003579.3
UniGeneiHs.642042

3D structure databases

ProteinModelPortaliQ92698
SMRiQ92698
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114018, 7 interactors
DIPiDIP-48628N
ELMiQ92698
IntActiQ92698, 8 interactors
STRINGi9606.ENSP00000361043

Chemistry databases

BindingDBiQ92698
ChEMBLiCHEMBL2146297

PTM databases

iPTMnetiQ92698
PhosphoSitePlusiQ92698

Polymorphism and mutation databases

BioMutaiRAD54L
DMDMi51316508

Proteomic databases

EPDiQ92698
MaxQBiQ92698
PaxDbiQ92698
PeptideAtlasiQ92698
PRIDEiQ92698
ProteomicsDBi75414

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371975; ENSP00000361043; ENSG00000085999
ENST00000442598; ENSP00000396113; ENSG00000085999
GeneIDi8438
KEGGihsa:8438
UCSCiuc001cpl.3 human

Organism-specific databases

CTDi8438
DisGeNETi8438
EuPathDBiHostDB:ENSG00000085999.11
GeneCardsiRAD54L
HGNCiHGNC:9826 RAD54L
HPAiHPA028954
HPA051537
MalaCardsiRAD54L
MIMi603615 gene
neXtProtiNX_Q92698
OpenTargetsiENSG00000085999
Orphaneti227535 Hereditary breast cancer
PharmGKBiPA34181
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0390 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00920000149014
HOGENOMiHOG000204521
HOVERGENiHBG058654
InParanoidiQ92698
KOiK10875
OMAiNILRPHQ
OrthoDBiEOG091G01Z3
PhylomeDBiQ92698
TreeFamiTF101224

Miscellaneous databases

ChiTaRSiRAD54L human
GeneWikiiDNA_repair_and_recombination_protein_RAD54-like
GenomeRNAii8438
PROiPR:Q92698
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000085999 Expressed in 111 organ(s), highest expression level in testis
CleanExiHS_RAD54L
ExpressionAtlasiQ92698 baseline and differential
GenevisibleiQ92698 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRAD54_HUMAN
AccessioniPrimary (citable) accession number: Q92698
Secondary accession number(s): Q5TE31, Q6IUY3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: August 16, 2004
Last modified: November 7, 2018
This is version 149 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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