UniProtKB - Q9Y620 (RA54B_HUMAN)
Protein
DNA repair and recombination protein RAD54B
Gene
RAD54B
Organism
Homo sapiens (Human)
Status
Functioni
Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group.2 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 326 – 333 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- DNA binding Source: UniProtKB-KW
- DNA helicase activity Source: ProtInc
- DNA translocase activity Source: MGI
- RNA helicase activity Source: ProtInc
GO - Biological processi
- determination of adult lifespan Source: Ensembl
- double-strand break repair via homologous recombination Source: MGI
- mitotic recombination Source: ProtInc
- reciprocal meiotic recombination Source: GO_Central
- response to drug Source: Ensembl
- response to ionizing radiation Source: Ensembl
Keywordsi
Molecular function | DNA-binding, Helicase, Hydrolase |
Biological process | DNA damage, DNA repair |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9Y620 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA repair and recombination protein RAD54B (EC:3.6.4.-)Alternative name(s): RAD54 homolog B |
Gene namesi | Name:RAD54B |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000197275.12 |
HGNCi | HGNC:17228, RAD54B |
MIMi | 604289, gene |
neXtProti | NX_Q9Y620 |
Subcellular locationi
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 25788 |
MalaCardsi | RAD54B |
OpenTargetsi | ENSG00000197275 |
PharmGKBi | PA134927202 |
Miscellaneous databases
Pharosi | Q9Y620, Tbio |
Polymorphism and mutation databases
BioMutai | RAD54B |
DMDMi | 51316548 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000074340 | 1 – 910 | DNA repair and recombination protein RAD54BAdd BLAST | 910 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 14 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9Y620 |
jPOSTi | Q9Y620 |
MassIVEi | Q9Y620 |
PaxDbi | Q9Y620 |
PeptideAtlasi | Q9Y620 |
PRIDEi | Q9Y620 |
ProteomicsDBi | 28103 86588 [Q9Y620-1] |
PTM databases
iPTMneti | Q9Y620 |
PhosphoSitePlusi | Q9Y620 |
Expressioni
Tissue specificityi
Abundantly expressed in testis and spleen. Relatively low levels observed in thymus, prostate, ovary and colon.1 Publication
Gene expression databases
Bgeei | ENSG00000197275, Expressed in kidney and 173 other tissues |
ExpressionAtlasi | Q9Y620, baseline and differential |
Genevisiblei | Q9Y620, HS |
Organism-specific databases
HPAi | ENSG00000197275, Tissue enhanced (lymphoid) |
Interactioni
Subunit structurei
Interacts with RAD51 through the NH2-terminal domain. Immunoprecipitation experiments show that the interaction is constitutive and not induced by ionizing radiation. The interaction may be indirect.
1 PublicationBinary interactionsi
Q9Y620
With | #Exp. | IntAct |
---|---|---|
LNX1 [Q8TBB1] | 4 | EBI-740830,EBI-739832 |
Protein-protein interaction databases
BioGRIDi | 117321, 40 interactors |
IntActi | Q9Y620, 17 interactors |
MINTi | Q9Y620 |
STRINGi | 9606.ENSP00000336606 |
Miscellaneous databases
RNActi | Q9Y620, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 313 – 480 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 168 | |
Domaini | 649 – 810 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 162 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 431 – 434 | DEGH box | 4 |
Sequence similaritiesi
Belongs to the SNF2/RAD54 helicase family.Curated
Phylogenomic databases
eggNOGi | KOG0390, Eukaryota |
GeneTreei | ENSGT00940000156966 |
InParanoidi | Q9Y620 |
OMAi | MADFCNP |
OrthoDBi | 93727at2759 |
PhylomeDBi | Q9Y620 |
TreeFami | TF101223 |
Family and domain databases
Gene3Di | 3.40.50.10810, 1 hit |
InterProi | View protein in InterPro IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase IPR038718, SNF2-like_sf IPR000330, SNF2_N |
Pfami | View protein in Pfam PF00271, Helicase_C, 1 hit PF00176, SNF2_N, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y620-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRRSAAPSQL QGNSFKKPKF IPPGRSNPGL NEEITKLNPD IKLFEGVAIN
60 70 80 90 100
NTFLPSQNDL RICSLNLPSE ESTREINNRD NCSGKYCFEA PTLATLDPPH
110 120 130 140 150
TVHSAPKEVA VSKEQEEKSD SLVKYFSVVW CKPSKKKHKK WEGDAVLIVK
160 170 180 190 200
GKSFILKNLE GKDIGRGIGY KFKELEKIEE GQTLMICGKE IEVMGVISPD
210 220 230 240 250
DFSSGRCFQL GGGSTAISHS SQVARKCFSN PFKSVCKPSS KENRQNDFQN
260 270 280 290 300
CKPRHDPYTP NSLVMPRPDK NHQWVFNKNC FPLVDVVIDP YLVYHLRPHQ
310 320 330 340 350
KEGIIFLYEC VMGMRMNGRC GAILADEMGL GKTLQCISLI WTLQCQGPYG
360 370 380 390 400
GKPVIKKTLI VTPGSLVNNW KKEFQKWLGS ERIKIFTVDQ DHKVEEFIKS
410 420 430 440 450
IFYSVLIISY EMLLRSLDQI KNIKFDLLIC DEGHRLKNSA IKTTTALISL
460 470 480 490 500
SCEKRIILTG TPIQNDLQEF FALIDFVNPG ILGSLSSYRK IYEEPIILSR
510 520 530 540 550
EPSASEEEKE LGERRAAELT CLTGLFILRR TQEIINKYLP PKIENVVFCR
560 570 580 590 600
PGALQIELYR KLLNSQVVRF CLQGLLENSP HLICIGALKK LCNHPCLLFN
610 620 630 640 650
SIKEKECSST CDKNEEKSLY KGLLSVFPAD YNPLLFTEKE SGKLQVLSKL
660 670 680 690 700
LAVIHELRPT EKVVLVSNYT QTLNILQEVC KRHGYAYTRL DGQTPISQRQ
710 720 730 740 750
QIVDGFNSQH SSFFIFLLSS KAGGVGLNLI GGSHLILYDI DWNPATDIQA
760 770 780 790 800
MSRVWRDGQK YPVHIYRLLT TGTIEEKIYQ RQISKQGLCG AVVDLTKTSE
810 820 830 840 850
HIQFSVEELK NLFTLHESSD CVTHDLLDCE CTGEEVHTGD SLEKFIVSRD
860 870 880 890 900
CQLGPHHQKS NSLKPLSMSQ LKQWKHFSGD HLNLTDPFLE RITENVSFIF
910
QNITTQATGT
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RHN9 | E5RHN9_HUMAN | DNA repair and recombination protei... | RAD54B | 125 | Annotation score: | ||
E5RJF7 | E5RJF7_HUMAN | DNA repair and recombination protei... | RAD54B | 52 | Annotation score: | ||
E5RI14 | E5RI14_HUMAN | DNA repair and recombination protei... | RAD54B | 121 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034430 | 30 | L → V. Corresponds to variant dbSNP:rs28910279Ensembl. | 1 | |
Natural variantiVAR_037885 | 97 | D → H. Corresponds to variant dbSNP:rs2919661Ensembl. | 1 | |
Natural variantiVAR_019563 | 418 | D → Y in a colon cancer sample. 1 PublicationCorresponds to variant dbSNP:rs119490107EnsemblClinVar. | 1 | |
Natural variantiVAR_019564 | 593 | N → S in a non-Hodgkin lymphoma sample. 1 PublicationCorresponds to variant dbSNP:rs114216685EnsemblClinVar. | 1 | |
Natural variantiVAR_075089 | 833 | G → E1 PublicationCorresponds to variant dbSNP:rs752511501Ensembl. | 1 | |
Natural variantiVAR_075090 | 899 | I → V1 PublicationCorresponds to variant dbSNP:rs150017319Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045956 | 103 – 117 | HSAPK…KEQEE → QTWMRRHRLVPVHYR in isoform 2. 1 PublicationAdd BLAST | 15 | |
Alternative sequenceiVSP_045957 | 118 – 910 | Missing in isoform 2. 1 PublicationAdd BLAST | 793 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF112481 mRNA Translation: AAD34331.1 AL523600 mRNA No translation available. AC023632 Genomic DNA No translation available. AP003534 Genomic DNA No translation available. BC001965 mRNA Translation: AAH01965.1 |
CCDSi | CCDS56546.1 [Q9Y620-2] CCDS6262.1 [Q9Y620-1] |
RefSeqi | NP_001192192.1, NM_001205263.1 NP_036547.1, NM_012415.3 [Q9Y620-1] |
Genome annotation databases
Ensembli | ENST00000297592; ENSP00000430153; ENSG00000197275 [Q9Y620-2] ENST00000336148; ENSP00000336606; ENSG00000197275 [Q9Y620-1] |
GeneIDi | 25788 |
KEGGi | hsa:25788 |
UCSCi | uc003ygk.4, human [Q9Y620-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF112481 mRNA Translation: AAD34331.1 AL523600 mRNA No translation available. AC023632 Genomic DNA No translation available. AP003534 Genomic DNA No translation available. BC001965 mRNA Translation: AAH01965.1 |
CCDSi | CCDS56546.1 [Q9Y620-2] CCDS6262.1 [Q9Y620-1] |
RefSeqi | NP_001192192.1, NM_001205263.1 NP_036547.1, NM_012415.3 [Q9Y620-1] |
3D structure databases
SMRi | Q9Y620 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117321, 40 interactors |
IntActi | Q9Y620, 17 interactors |
MINTi | Q9Y620 |
STRINGi | 9606.ENSP00000336606 |
PTM databases
iPTMneti | Q9Y620 |
PhosphoSitePlusi | Q9Y620 |
Polymorphism and mutation databases
BioMutai | RAD54B |
DMDMi | 51316548 |
Proteomic databases
EPDi | Q9Y620 |
jPOSTi | Q9Y620 |
MassIVEi | Q9Y620 |
PaxDbi | Q9Y620 |
PeptideAtlasi | Q9Y620 |
PRIDEi | Q9Y620 |
ProteomicsDBi | 28103 86588 [Q9Y620-1] |
Protocols and materials databases
Antibodypediai | 1882, 205 antibodies |
Genome annotation databases
Ensembli | ENST00000297592; ENSP00000430153; ENSG00000197275 [Q9Y620-2] ENST00000336148; ENSP00000336606; ENSG00000197275 [Q9Y620-1] |
GeneIDi | 25788 |
KEGGi | hsa:25788 |
UCSCi | uc003ygk.4, human [Q9Y620-1] |
Organism-specific databases
CTDi | 25788 |
DisGeNETi | 25788 |
EuPathDBi | HostDB:ENSG00000197275.12 |
GeneCardsi | RAD54B |
HGNCi | HGNC:17228, RAD54B |
HPAi | ENSG00000197275, Tissue enhanced (lymphoid) |
MalaCardsi | RAD54B |
MIMi | 604289, gene |
neXtProti | NX_Q9Y620 |
OpenTargetsi | ENSG00000197275 |
PharmGKBi | PA134927202 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0390, Eukaryota |
GeneTreei | ENSGT00940000156966 |
InParanoidi | Q9Y620 |
OMAi | MADFCNP |
OrthoDBi | 93727at2759 |
PhylomeDBi | Q9Y620 |
TreeFami | TF101223 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y620 |
Miscellaneous databases
BioGRID-ORCSi | 25788, 7 hits in 847 CRISPR screens |
ChiTaRSi | RAD54B, human |
GenomeRNAii | 25788 |
Pharosi | Q9Y620, Tbio |
PROi | PR:Q9Y620 |
RNActi | Q9Y620, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197275, Expressed in kidney and 173 other tissues |
ExpressionAtlasi | Q9Y620, baseline and differential |
Genevisiblei | Q9Y620, HS |
Family and domain databases
Gene3Di | 3.40.50.10810, 1 hit |
InterProi | View protein in InterPro IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR027417, P-loop_NTPase IPR038718, SNF2-like_sf IPR000330, SNF2_N |
Pfami | View protein in Pfam PF00271, Helicase_C, 1 hit PF00176, SNF2_N, 1 hit |
SMARTi | View protein in SMART SM00487, DEXDc, 1 hit SM00490, HELICc, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS51192, HELICASE_ATP_BIND_1, 1 hit PS51194, HELICASE_CTER, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RA54B_HUMAN | |
Accessioni | Q9Y620Primary (citable) accession number: Q9Y620 Secondary accession number(s): F6WBS8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2004 |
Last sequence update: | November 1, 1999 | |
Last modified: | December 2, 2020 | |
This is version 164 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations