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Protein

DNA repair and recombination protein RAD54B

Gene

RAD54B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi326 – 3338ATPPROSITE-ProRule annotation

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: ProtInc
  • response to drug Source: Ensembl
  • 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 RAD54B (EC:3.6.4.-)
Alternative name(s):
RAD54 homolog B
Gene namesi
Name:RAD54B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:17228. RAD54B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

MalaCardsiRAD54B.
PharmGKBiPA134927202.

Polymorphism and mutation databases

BioMutaiRAD54B.
DMDMi51316548.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 910910DNA repair and recombination protein RAD54BPRO_0000074340Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei14 – 141PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y620.
MaxQBiQ9Y620.
PaxDbiQ9Y620.
PeptideAtlasiQ9Y620.
PRIDEiQ9Y620.

PTM databases

iPTMnetiQ9Y620.
PhosphoSiteiQ9Y620.

Expressioni

Tissue specificityi

Abundantly expressed in testis and spleen. Relatively low levels observed in thymus, prostate, ovary and colon.1 Publication

Gene expression databases

BgeeiENSG00000197275.
CleanExiHS_RAD54B.
ExpressionAtlasiQ9Y620. baseline and differential.
GenevisibleiQ9Y620. HS.

Organism-specific databases

HPAiHPA007087.

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 Publication

Protein-protein interaction databases

BioGridi117321. 35 interactions.
IntActiQ9Y620. 15 interactions.
MINTiMINT-1441930.
STRINGi9606.ENSP00000336606.

Structurei

3D structure databases

ProteinModelPortaliQ9Y620.
SMRiQ9Y620. Positions 287-815.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini313 – 480168Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini649 – 810162Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi431 – 4344DEGH 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

eggNOGiKOG0390. Eukaryota.
COG0553. LUCA.
GeneTreeiENSGT00840000129944.
HOGENOMiHOG000204521.
HOVERGENiHBG058654.
InParanoidiQ9Y620.
KOiK10877.
OMAiCSSTCDK.
OrthoDBiEOG091G01Z3.
PhylomeDBiQ9Y620.
TreeFamiTF101223.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. Helicase_C. 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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y620-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:910
Mass (Da):102,967
Last modified:November 1, 1999 - v1
Checksum:i0167288FBA95FBC5
GO
Isoform 2 (identifier: Q9Y620-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-117: HSAPKEVAVSKEQEE → QTWMRRHRLVPVHYR
     118-910: Missing.

Note: No experimental confirmation available.
Show »
Length:117
Mass (Da):13,330
Checksum:iFF14E8FF9AD2946E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301L → V.
Corresponds to variant rs28910279 [ dbSNP | Ensembl ].
VAR_034430
Natural varianti97 – 971D → H.
Corresponds to variant rs2919661 [ dbSNP | Ensembl ].
VAR_037885
Natural varianti418 – 4181D → Y in a colon cancer sample. 1 Publication
Corresponds to variant rs119490107 [ dbSNP | Ensembl ].
VAR_019563
Natural varianti593 – 5931N → S in a non-Hodgkin lymphoma sample. 1 Publication
Corresponds to variant rs114216685 [ dbSNP | Ensembl ].
VAR_019564
Natural varianti833 – 8331G → E.1 Publication
Corresponds to variant rs752511501 [ dbSNP | Ensembl ].
VAR_075089
Natural varianti899 – 8991I → V.1 Publication
Corresponds to variant rs150017319 [ dbSNP | Ensembl ].
VAR_075090

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei103 – 11715HSAPK…KEQEE → QTWMRRHRLVPVHYR in isoform 2. 1 PublicationVSP_045956Add
BLAST
Alternative sequencei118 – 910793Missing in isoform 2. 1 PublicationVSP_045957Add
BLAST

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.
CCDSiCCDS56546.1. [Q9Y620-2]
CCDS6262.1. [Q9Y620-1]
RefSeqiNP_001192192.1. NM_001205263.1.
NP_036547.1. NM_012415.3. [Q9Y620-1]
UniGeneiHs.30561.
Hs.744229.

Genome annotation databases

EnsembliENST00000297592; ENSP00000430153; ENSG00000197275. [Q9Y620-2]
ENST00000336148; ENSP00000336606; ENSG00000197275. [Q9Y620-1]
GeneIDi25788.
KEGGihsa:25788.
UCSCiuc003ygk.4. human. [Q9Y620-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS56546.1. [Q9Y620-2]
CCDS6262.1. [Q9Y620-1]
RefSeqiNP_001192192.1. NM_001205263.1.
NP_036547.1. NM_012415.3. [Q9Y620-1]
UniGeneiHs.30561.
Hs.744229.

3D structure databases

ProteinModelPortaliQ9Y620.
SMRiQ9Y620. Positions 287-815.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117321. 35 interactions.
IntActiQ9Y620. 15 interactions.
MINTiMINT-1441930.
STRINGi9606.ENSP00000336606.

PTM databases

iPTMnetiQ9Y620.
PhosphoSiteiQ9Y620.

Polymorphism and mutation databases

BioMutaiRAD54B.
DMDMi51316548.

Proteomic databases

EPDiQ9Y620.
MaxQBiQ9Y620.
PaxDbiQ9Y620.
PeptideAtlasiQ9Y620.
PRIDEiQ9Y620.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297592; ENSP00000430153; ENSG00000197275. [Q9Y620-2]
ENST00000336148; ENSP00000336606; ENSG00000197275. [Q9Y620-1]
GeneIDi25788.
KEGGihsa:25788.
UCSCiuc003ygk.4. human. [Q9Y620-1]

Organism-specific databases

CTDi25788.
GeneCardsiRAD54B.
HGNCiHGNC:17228. RAD54B.
HPAiHPA007087.
MalaCardsiRAD54B.
MIMi604289. gene.
neXtProtiNX_Q9Y620.
PharmGKBiPA134927202.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0390. Eukaryota.
COG0553. LUCA.
GeneTreeiENSGT00840000129944.
HOGENOMiHOG000204521.
HOVERGENiHBG058654.
InParanoidiQ9Y620.
KOiK10877.
OMAiCSSTCDK.
OrthoDBiEOG091G01Z3.
PhylomeDBiQ9Y620.
TreeFamiTF101223.

Miscellaneous databases

ChiTaRSiRAD54B. human.
GenomeRNAii25788.
PROiQ9Y620.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197275.
CleanExiHS_RAD54B.
ExpressionAtlasiQ9Y620. baseline and differential.
GenevisibleiQ9Y620. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. Helicase_C. 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]
ProtoNetiSearch...

Entry informationi

Entry nameiRA54B_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 134 of the entry and version 1 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 8
    Human chromosome 8: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.