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Q92698

- RAD54_HUMAN

UniProt

Q92698 - RAD54_HUMAN

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Protein

DNA repair and recombination protein RAD54-like

Gene

RAD54L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi183 – 1908ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. annealing helicase activity Source: UniProtKB
  2. ATP binding Source: UniProtKB-KW
  3. DNA binding Source: UniProtKB-KW
  4. helicase activity Source: UniProtKB-KW

GO - Biological processi

  1. chromosome organization Source: Ensembl
  2. DNA recombination Source: ProtInc
  3. DNA repair Source: ProtInc
  4. DNA strand renaturation Source: GOC
  5. double-strand break repair via homologous recombination Source: Ensembl
  6. meiotic nuclear division Source: ProtInc
  7. response to drug Source: Ensembl
  8. response to ionizing radiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

ATP-binding, DNA-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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:9826. RAD54L.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi189 – 1891K → R: Unable to rescue the MMS-sensitive phenotype of S cerevisiae rad54delta cells. 1 Publication

Organism-specific databases

PharmGKBiPA34181.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 747747DNA repair and recombination protein RAD54-likePRO_0000074337Add
BLAST

Proteomic databases

MaxQBiQ92698.
PaxDbiQ92698.
PRIDEiQ92698.

PTM databases

PhosphoSiteiQ92698.

Expressioni

Inductioni

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

Gene expression databases

BgeeiQ92698.
CleanExiHS_RAD54L.
ExpressionAtlasiQ92698. baseline and differential.
GenevestigatoriQ92698.

Organism-specific databases

HPAiHPA028954.
HPA051537.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
TNKS2Q9H2K23EBI-5333483,EBI-4398527

Protein-protein interaction databases

BioGridi114018. 3 interactions.
DIPiDIP-48628N.
IntActiQ92698. 1 interaction.
STRINGi9606.ENSP00000361043.

Structurei

3D structure databases

ProteinModelPortaliQ92698.
SMRiQ92698. Positions 98-744.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini170 – 345176Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini500 – 653154Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 98Required for chromatin remodeling, strand pairing activities and coupling of ATPase activityBy similarity

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi296 – 2994DEGH box

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG0553.
GeneTreeiENSGT00550000074619.
HOGENOMiHOG000204521.
HOVERGENiHBG058654.
InParanoidiQ92698.
KOiK10875.
OMAiVTRPVII.
OrthoDBiEOG7DJSKN.
PhylomeDBiQ92698.
TreeFamiTF101224.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR013967. Rad54_N.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. Helicase_C. 1 hit.
PF08658. Rad54_N. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti738 – 7381R → H in CAA66379. (PubMed:8805304)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211D → G.1 Publication
Corresponds to variant rs28363192 [ dbSNP | Ensembl ].
VAR_055363
Natural varianti63 – 631P → H in a colon adenocarcinoma sample. 1 Publication
VAR_019559
Natural varianti74 – 741I → M.1 Publication
Corresponds to variant rs28363209 [ dbSNP | Ensembl ].
VAR_055364
Natural varianti151 – 1511K → E.1 Publication
Corresponds to variant rs2295466 [ dbSNP | Ensembl ].
VAR_019560
Natural varianti202 – 2021R → C.1 Publication
Corresponds to variant rs28363218 [ dbSNP | Ensembl ].
VAR_055365
Natural varianti325 – 3251G → R in a breast cancer sample; invasive ductal. 1 Publication
VAR_019561
Natural varianti380 – 3801R → Q.1 Publication
Corresponds to variant rs28363234 [ dbSNP | Ensembl ].
VAR_055366
Natural varianti444 – 4441V → E in a non-Hodgkin lymphoma sample. 1 Publication
VAR_019562
Natural varianti534 – 5341R → C.1 Publication
Corresponds to variant rs28363240 [ dbSNP | Ensembl ].
VAR_055367
Natural varianti583 – 5831I → T.1 Publication
Corresponds to variant rs28363243 [ dbSNP | Ensembl ].
VAR_055368

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. Translation: CAI22117.1.
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.2. human.

Polymorphism databases

DMDMi51316508.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAI22117.1 .
BC121059 mRNA. Translation: AAI21060.1 .
BC121060 mRNA. Translation: AAI21061.1 .
CCDSi CCDS532.1.
RefSeqi NP_001136020.1. NM_001142548.1.
NP_003570.2. NM_003579.3.
UniGenei Hs.642042.

3D structure databases

ProteinModelPortali Q92698.
SMRi Q92698. Positions 98-744.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114018. 3 interactions.
DIPi DIP-48628N.
IntActi Q92698. 1 interaction.
STRINGi 9606.ENSP00000361043.

Chemistry

ChEMBLi CHEMBL2146297.

PTM databases

PhosphoSitei Q92698.

Polymorphism databases

DMDMi 51316508.

Proteomic databases

MaxQBi Q92698.
PaxDbi Q92698.
PRIDEi Q92698.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000371975 ; ENSP00000361043 ; ENSG00000085999 .
ENST00000442598 ; ENSP00000396113 ; ENSG00000085999 .
GeneIDi 8438.
KEGGi hsa:8438.
UCSCi uc001cpl.2. human.

Organism-specific databases

CTDi 8438.
GeneCardsi GC01P046713.
HGNCi HGNC:9826. RAD54L.
HPAi HPA028954.
HPA051537.
MIMi 603615. gene.
neXtProti NX_Q92698.
PharmGKBi PA34181.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0553.
GeneTreei ENSGT00550000074619.
HOGENOMi HOG000204521.
HOVERGENi HBG058654.
InParanoidi Q92698.
KOi K10875.
OMAi VTRPVII.
OrthoDBi EOG7DJSKN.
PhylomeDBi Q92698.
TreeFami TF101224.

Miscellaneous databases

ChiTaRSi RAD54L. human.
GeneWikii DNA_repair_and_recombination_protein_RAD54-like.
GenomeRNAii 8438.
NextBioi 31570.
PROi Q92698.
SOURCEi Search...

Gene expression databases

Bgeei Q92698.
CleanExi HS_RAD54L.
ExpressionAtlasi Q92698. baseline and differential.
Genevestigatori Q92698.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR013967. Rad54_N.
IPR000330. SNF2_N.
[Graphical view ]
Pfami PF00271. Helicase_C. 1 hit.
PF08658. Rad54_N. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view ]
SMARTi SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human and mouse homologs of the Saccharomyces cerevisiae RAD54 DNA repair gene: evidence for functional conservation."
    Kanaar R., Troelstra C., Swagemakers S.M.A., Essers J., Smit B., Franssen J.-H., Pastink A., Bezzubova O.Y., Buerstedde J.-M., Clever B., Heyer W.-D., Hoeijmakers J.H.J.
    Curr. Biol. 6:828-838(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, CELL CYCLE REGULATION, MUTAGENESIS OF LYS-189.
    Tissue: Testis.
  2. NIEHS SNPs program
    Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-21; MET-74; CYS-202; GLN-380; CYS-534 AND THR-583.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors."
    Rasio D., Murakumo Y., Robbins D., Roth T., Silver A., Negrini M., Schmidt C., Burczak J., Fishel R., Croce C.M.
    Cancer Res. 57:2378-2383(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
  6. "Interaction of human recombination proteins Rad51 and Rad54."
    Golub E.I., Kovalenko O.V., Gupta R.C., Ward D.C., Radding C.M.
    Nucleic Acids Res. 25:4106-4110(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RAD51.
  7. "The human RAD54 recombinational DNA repair protein is a double-stranded DNA-dependent ATPase."
    Swagemakers S.M.A., Essers J., de Wit J., Hoeijmakers J.H.J., Kanaar R.
    J. Biol. Chem. 273:28292-28297(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "Analysis of the RAD54 gene on chromosome 1p as a potential tumor-suppressor gene in parathyroid adenomas."
    Carling T., Imanishi Y., Gaz R.D., Arnold A.
    Int. J. Cancer 83:80-82(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: LACK OF INVOLVEMENT IN PARATHYROID ADENOMAS.
  9. "The architecture of the human Rad54-DNA complex provides evidence for protein translocation along DNA."
    Ristic D., Wyman C., Paulusma C., Kanaar R.
    Proc. Natl. Acad. Sci. U.S.A. 98:8454-8460(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  10. "Homologous DNA pairing by human recombination factors Rad51 and Rad54."
    Sigurdsson S., Van Komen S., Petukhova G., Sung P.
    J. Biol. Chem. 277:42790-42794(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  11. Cited for: VARIANTS HIS-63; GLU-151; ARG-325 AND GLU-444.

Entry informationi

Entry nameiRAD54_HUMAN
AccessioniPrimary (citable) accession number: Q92698
Secondary accession number(s): Q5TE31, Q6IUY3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: August 16, 2004
Last modified: October 29, 2014
This is version 120 of the entry and version 2 of the sequence. [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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3