UniProtKB - O60306 (AQR_HUMAN)
RNA helicase aquarius
AQR
Functioni
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770, PubMed:28076346).
Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364).
Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364).
May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing (PubMed:16949364).
Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3' overhang (in vitro) (PubMed:25599396).
5 PublicationsCatalytic activityi
- EC:3.6.4.131 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 801 | ATP; via carbonyl oxygenCombined sources1 Publication | 1 | |
Binding sitei | 806 | ATPCombined sources1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 826 – 831 | ATPCombined sources1 Publication | 6 |
GO - Molecular functioni
- 3'-5' RNA helicase activity Source: FlyBase
- ATP binding Source: UniProtKB-KW
- ATP hydrolysis activity Source: RHEA
- mRNA binding Source: GO_Central
- RNA binding Source: UniProtKB
- single-stranded RNA binding Source: FlyBase
GO - Biological processi
- mRNA splicing, via spliceosome Source: UniProtKB
Keywordsi
Molecular function | Helicase, Hydrolase, RNA-binding |
Biological process | mRNA processing, mRNA splicing |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 3.6.4.13, 2681 |
PathwayCommonsi | O60306 |
Reactomei | R-HSA-6781823, Formation of TC-NER Pre-Incision Complex R-HSA-6781827, Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-6782135, Dual incision in TC-NER R-HSA-6782210, Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-72163, mRNA Splicing - Major Pathway |
SignaLinki | O60306 |
Names & Taxonomyi
Protein namesi | Recommended name: RNA helicase aquarius1 Publication (EC:3.6.4.131 Publication)Alternative name(s): Intron-binding protein of 160 kDa1 Publication Short name: IBP1601 Publication |
Gene namesi | Name:AQR Synonyms:KIAA0560 |
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
HGNCi | HGNC:29513, AQR |
MIMi | 610548, gene |
neXtProti | NX_O60306 |
VEuPathDBi | HostDB:ENSG00000021776 |
Subcellular locationi
Nucleus
- Nucleus 4 Publications
- nucleoplasm 1 Publication
Note: Localizes to speckle-like regions of the nucleoplasm.1 Publication
Nucleus
- catalytic step 2 spliceosome Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- U2-type catalytic step 2 spliceosome Source: UniProtKB
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 829 | K → A: Decreased affinity for ATP and ADP. Loss of RNA helicase activity. Disrupts spliceosomal pre-mRNA splicing and leads to the accumulation of spliceosomal B complexes. 1 Publication | 1 | |
Mutagenesisi | 1196 | Y → A: Strongly reduced RNA helicase activity. No effect on ATPase activity. No effect on spliceosomal pre-mRNA splicing. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 9716 |
OpenTargetsi | ENSG00000021776 |
PharmGKBi | PA134869224 |
Miscellaneous databases
Pharosi | O60306, Tbio |
Genetic variation databases
BioMutai | AQR |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000252389 | 1 – 1485 | RNA helicase aquariusAdd BLAST | 1485 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1051 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | O60306 |
jPOSTi | O60306 |
MassIVEi | O60306 |
MaxQBi | O60306 |
PaxDbi | O60306 |
PeptideAtlasi | O60306 |
PRIDEi | O60306 |
ProteomicsDBi | 49333 |
PTM databases
GlyGeni | O60306, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | O60306 |
MetOSitei | O60306 |
PhosphoSitePlusi | O60306 |
Expressioni
Gene expression databases
Bgeei | ENSG00000021776, Expressed in intestine and 236 other tissues |
ExpressionAtlasi | O60306, baseline and differential |
Genevisiblei | O60306, HS |
Organism-specific databases
HPAi | ENSG00000021776, Low tissue specificity |
Interactioni
Subunit structurei
Identified in the spliceosome C complex (PubMed:11991638, PubMed:16949364, PubMed:25599396, PubMed:28502770, PubMed:28076346).
Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE (PubMed:17981804).
Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex (PubMed:25599396). The IB complex does not contain PRPF19 (PubMed:25599396). Within the spliceosome, interacts with SNRPA1, SF3B1, SF3B3, SF3A1 and SF3A2 (PubMed:25599396).
6 PublicationsBinary interactionsi
O60306
With | #Exp. | IntAct |
---|---|---|
ISY1 [Q9ULR0] | 6 | EBI-2512328,EBI-2557660 |
PPIE [Q9UNP9] | 9 | EBI-2512328,EBI-591818 |
XAB2 [Q9HCS7] | 6 | EBI-2512328,EBI-295232 |
ZNF830 [Q96NB3] | 11 | EBI-2512328,EBI-3920997 |
Protein-protein interaction databases
BioGRIDi | 115065, 173 interactors |
CORUMi | O60306 |
DIPi | DIP-53576N |
IntActi | O60306, 82 interactors |
MINTi | O60306 |
STRINGi | 9606.ENSP00000156471 |
Miscellaneous databases
RNActi | O60306, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | O60306 |
SMRi | O60306 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 416 | Helical region with structural similarity to ARM repeat domains1 PublicationAdd BLAST | 416 | |
Regioni | 417 – 1485 | Required for assembly of the IB complex1 PublicationAdd BLAST | 1069 | |
Regioni | 1419 – 1485 | DisorderedSequence analysisAdd BLAST | 67 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1419 – 1462 | Polar residuesSequence analysisAdd BLAST | 44 | |
Compositional biasi | 1471 – 1485 | Polar residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1806, Eukaryota |
GeneTreei | ENSGT00940000156668 |
HOGENOMi | CLU_001195_0_0_1 |
InParanoidi | O60306 |
OMAi | YQFIDVP |
OrthoDBi | 867854at2759 |
PhylomeDBi | O60306 |
TreeFami | TF105711 |
Family and domain databases
CDDi | cd18808, SF1_C_Upf1, 1 hit |
Gene3Di | 3.40.50.300, 2 hits |
InterProi | View protein in InterPro IPR032174, Aquarius_N IPR026300, CWF11_fam IPR045055, DNA2/NAM7-like IPR041679, DNA2/NAM7-like_C IPR041677, DNA2/NAM7_AAA_11 IPR027417, P-loop_NTPase |
PANTHERi | PTHR10887, PTHR10887, 1 hit PTHR10887:SF5, PTHR10887:SF5, 1 hit |
Pfami | View protein in Pfam PF13086, AAA_11, 1 hit PF13087, AAA_12, 1 hit PF16399, Aquarius_N, 1 hit |
PIRSFi | PIRSF038901, AQR_cwf11, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MAAPAQPKKI VAPTVSQINA EFVTQLACKY WAPHIKKKSP FDIKVIEDIY
60 70 80 90 100
EKEIVKSRFA IRKIMLLEFS QYLENYLWMN YSPEVSSKAY LMSICCMVNE
110 120 130 140 150
KFRENVPAWE IFKKKPDHFP FFFKHILKAA LAETDGEFSL HEQTVLLLFL
160 170 180 190 200
DHCFNSLEVD LIRSQVQQLI SLPMWMGLQL ARLELELKKT PKLRKFWNLI
210 220 230 240 250
KKNDEKMDPE AREQAYQERR FLSQLIQKFI SVLKSVPLSE PVTMDKVHYC
260 270 280 290 300
ERFIELMIDL EALLPTRRWF NTILDDSHLL VHCYLSNLVR REEDGHLFSQ
310 320 330 340 350
LLDMLKFYTG FEINDQTGNA LTENEMTTIH YDRITSLQRA AFAHFPELYD
360 370 380 390 400
FALSNVAEVD TRESLVKFFG PLSSNTLHQV ASYLCLLPTL PKNEDTTFDK
410 420 430 440 450
EFLLELLVSR HERRISQIQQ LNQMPLYPTE KIIWDENIVP TEYYSGEGCL
460 470 480 490 500
ALPKLNLQFL TLHDYLLRNF NLFRLESTYE IRQDIEDSVS RMKPWQSEYG
510 520 530 540 550
GVVFGGWARM AQPIVAFTVV EVAKPNIGEN WPTRVRADVT INLNVRDHIK
560 570 580 590 600
DEWEGLRKHD VCFLITVRPT KPYGTKFDRR RPFIEQVGLV YVRGCEIQGM
610 620 630 640 650
LDDKGRVIED GPEPRPNLRG ESRTFRVFLD PNQYQQDMTN TIQNGAEDVY
660 670 680 690 700
ETFNIIMRRK PKENNFKAVL ETIRNLMNTD CVVPDWLHDI ILGYGDPSSA
710 720 730 740 750
HYSKMPNQIA TLDFNDTFLS IEHLKASFPG HNVKVTVEDP ALQIPPFRIT
760 770 780 790 800
FPVRSGKGKK RKDADVEDED TEEAKTLIVE PHVIPNRGPY PYNQPKRNTI
810 820 830 840 850
QFTHTQIEAI RAGMQPGLTM VVGPPGTGKT DVAVQIISNI YHNFPEQRTL
860 870 880 890 900
IVTHSNQALN QLFEKIMALD IDERHLLRLG HGEEELETEK DFSRYGRVNY
910 920 930 940 950
VLARRIELLE EVKRLQKSLG VPGDASYTCE TAGYFFLYQV MSRWEEYISK
960 970 980 990 1000
VKNKGSTLPD VTEVSTFFPF HEYFANAPQP IFKGRSYEED MEIAEGCFRH
1010 1020 1030 1040 1050
IKKIFTQLEE FRASELLRSG LDRSKYLLVK EAKIIAMTCT HAALKRHDLV
1060 1070 1080 1090 1100
KLGFKYDNIL MEEAAQILEI ETFIPLLLQN PQDGFSRLKR WIMIGDHHQL
1110 1120 1130 1140 1150
PPVIKNMAFQ KYSNMEQSLF TRFVRVGVPT VDLDAQGRAR ASLCNLYNWR
1160 1170 1180 1190 1200
YKNLGNLPHV QLLPEFSTAN AGLLYDFQLI NVEDFQGVGE SEPNPYFYQN
1210 1220 1230 1240 1250
LGEAEYVVAL FMYMCLLGYP ADKISILTTY NGQKHLIRDI INRRCGNNPL
1260 1270 1280 1290 1300
IGRPNKVTTV DRFQGQQNDY ILLSLVRTRA VGHLRDVRRL VVAMSRARLG
1310 1320 1330 1340 1350
LYIFARVSLF QNCFELTPAF SQLTARPLHL HIIPTEPFPT TRKNGERPSH
1360 1370 1380 1390 1400
EVQIIKNMPQ MANFVYNMYM HLIQTTHHYH QTLLQLPPAM VEEGEEVQNQ
1410 1420 1430 1440 1450
ETELETEEEA MTVQADIIPS PTDTSCRQET PAFQTDTTPS ETGATSTPEA
1460 1470 1480
IPALSETTPT VVGAVSAPAE ANTPQDATSA PEETK
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YH15 | H0YH15_HUMAN | Aquarius homolog (Mouse), isoform C... | AQR hCG_38784 | 646 | Annotation score: | ||
H0YLN9 | H0YLN9_HUMAN | RNA helicase aquarius | AQR | 180 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 242 | V → A in ABQ66265 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1026 | Y → F in ABQ66265 (PubMed:17974005).Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB011132 mRNA Translation: BAA25486.3 Different initiation. EF553519 mRNA Translation: ABQ66265.1 BC036913 mRNA Translation: AAH36913.1 BC070379 mRNA Translation: AAH70379.1 BC108262 mRNA Translation: AAI08263.1 BC127111 mRNA Translation: AAI27112.1 BC127112 mRNA Translation: AAI27113.1 |
CCDSi | CCDS42013.1 |
PIRi | T00333 |
RefSeqi | NP_055506.1, NM_014691.2 |
Genome annotation databases
Ensembli | ENST00000156471.10; ENSP00000156471.5; ENSG00000021776.11 |
GeneIDi | 9716 |
KEGGi | hsa:9716 |
MANE-Selecti | ENST00000156471.10; ENSP00000156471.5; NM_014691.3; NP_055506.1 |
UCSCi | uc001ziv.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB011132 mRNA Translation: BAA25486.3 Different initiation. EF553519 mRNA Translation: ABQ66265.1 BC036913 mRNA Translation: AAH36913.1 BC070379 mRNA Translation: AAH70379.1 BC108262 mRNA Translation: AAI08263.1 BC127111 mRNA Translation: AAI27112.1 BC127112 mRNA Translation: AAI27113.1 |
CCDSi | CCDS42013.1 |
PIRi | T00333 |
RefSeqi | NP_055506.1, NM_014691.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4PJ3 | X-ray | 2.30 | A | 19-1485 | [»] | |
5MQF | electron microscopy | 5.90 | U | 1-1485 | [»] | |
5XJC | electron microscopy | 3.60 | Q | 1-1485 | [»] | |
5YZG | electron microscopy | 4.10 | Q | 1-1485 | [»] | |
5Z56 | electron microscopy | 5.10 | Q | 1-1485 | [»] | |
5Z57 | electron microscopy | 6.50 | Q | 1-1485 | [»] | |
6FF7 | electron microscopy | 4.50 | U | 1-1485 | [»] | |
6ICZ | electron microscopy | 3.00 | Q | 1-1485 | [»] | |
6ID0 | electron microscopy | 2.90 | Q | 1-1485 | [»] | |
6ID1 | electron microscopy | 2.86 | Q | 1-1485 | [»] | |
6QDV | electron microscopy | 3.30 | U | 1-1485 | [»] | |
7A5P | electron microscopy | 5.00 | U | 1-1485 | [»] | |
7ABI | electron microscopy | 8.00 | U | 1-1485 | [»] | |
AlphaFoldDBi | O60306 | |||||
SMRi | O60306 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115065, 173 interactors |
CORUMi | O60306 |
DIPi | DIP-53576N |
IntActi | O60306, 82 interactors |
MINTi | O60306 |
STRINGi | 9606.ENSP00000156471 |
PTM databases
GlyGeni | O60306, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | O60306 |
MetOSitei | O60306 |
PhosphoSitePlusi | O60306 |
Genetic variation databases
BioMutai | AQR |
Proteomic databases
EPDi | O60306 |
jPOSTi | O60306 |
MassIVEi | O60306 |
MaxQBi | O60306 |
PaxDbi | O60306 |
PeptideAtlasi | O60306 |
PRIDEi | O60306 |
ProteomicsDBi | 49333 |
Protocols and materials databases
Antibodypediai | 53026, 83 antibodies from 20 providers |
DNASUi | 9716 |
Genome annotation databases
Ensembli | ENST00000156471.10; ENSP00000156471.5; ENSG00000021776.11 |
GeneIDi | 9716 |
KEGGi | hsa:9716 |
MANE-Selecti | ENST00000156471.10; ENSP00000156471.5; NM_014691.3; NP_055506.1 |
UCSCi | uc001ziv.4, human |
Organism-specific databases
CTDi | 9716 |
DisGeNETi | 9716 |
GeneCardsi | AQR |
HGNCi | HGNC:29513, AQR |
HPAi | ENSG00000021776, Low tissue specificity |
MIMi | 610548, gene |
neXtProti | NX_O60306 |
OpenTargetsi | ENSG00000021776 |
PharmGKBi | PA134869224 |
VEuPathDBi | HostDB:ENSG00000021776 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1806, Eukaryota |
GeneTreei | ENSGT00940000156668 |
HOGENOMi | CLU_001195_0_0_1 |
InParanoidi | O60306 |
OMAi | YQFIDVP |
OrthoDBi | 867854at2759 |
PhylomeDBi | O60306 |
TreeFami | TF105711 |
Enzyme and pathway databases
BRENDAi | 3.6.4.13, 2681 |
PathwayCommonsi | O60306 |
Reactomei | R-HSA-6781823, Formation of TC-NER Pre-Incision Complex R-HSA-6781827, Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-6782135, Dual incision in TC-NER R-HSA-6782210, Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-72163, mRNA Splicing - Major Pathway |
SignaLinki | O60306 |
Miscellaneous databases
BioGRID-ORCSi | 9716, 747 hits in 1078 CRISPR screens |
ChiTaRSi | AQR, human |
GenomeRNAii | 9716 |
Pharosi | O60306, Tbio |
PROi | PR:O60306 |
RNActi | O60306, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000021776, Expressed in intestine and 236 other tissues |
ExpressionAtlasi | O60306, baseline and differential |
Genevisiblei | O60306, HS |
Family and domain databases
CDDi | cd18808, SF1_C_Upf1, 1 hit |
Gene3Di | 3.40.50.300, 2 hits |
InterProi | View protein in InterPro IPR032174, Aquarius_N IPR026300, CWF11_fam IPR045055, DNA2/NAM7-like IPR041679, DNA2/NAM7-like_C IPR041677, DNA2/NAM7_AAA_11 IPR027417, P-loop_NTPase |
PANTHERi | PTHR10887, PTHR10887, 1 hit PTHR10887:SF5, PTHR10887:SF5, 1 hit |
Pfami | View protein in Pfam PF13086, AAA_11, 1 hit PF13087, AAA_12, 1 hit PF16399, Aquarius_N, 1 hit |
PIRSFi | PIRSF038901, AQR_cwf11, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | AQR_HUMAN | |
Accessioni | O60306Primary (citable) accession number: O60306 Secondary accession number(s): A0JP17 Q6PIC8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 17, 2006 |
Last sequence update: | October 17, 2006 | |
Last modified: | May 25, 2022 | |
This is version 159 of the entry and version 4 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
3D-structure, Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families