UniProtKB - Q9HAU5 (RENT2_HUMAN)
Protein
Regulator of nonsense transcripts 2
Gene
UPF2
Organism
Homo sapiens (Human)
Status
Functioni
Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA.3 Publications
GO - Molecular functioni
- RNA binding Source: UniProtKB-KW
- telomeric DNA binding Source: BHF-UCL
GO - Biological processi
- animal organ regeneration Source: Ensembl
- liver development Source: Ensembl
- mRNA export from nucleus Source: HGNC-UCL
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProtKB
Keywordsi
Molecular function | RNA-binding |
Biological process | Nonsense-mediated mRNA decay |
Enzyme and pathway databases
PathwayCommonsi | Q9HAU5 |
Reactomei | R-HSA-9010553, Regulation of expression of SLITs and ROBOs R-HSA-975957, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
Protein family/group databases
MoonDBi | Q9HAU5, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: Regulator of nonsense transcripts 2Alternative name(s): Nonsense mRNA reducing factor 2 Up-frameshift suppressor 2 homolog Short name: hUpf2 |
Gene namesi | Name:UPF2 Synonyms:KIAA1408, RENT2 |
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:17854, UPF2 |
MIMi | 605529, gene |
neXtProti | NX_Q9HAU5 |
VEuPathDBi | HostDB:ENSG00000151461.19 |
Subcellular locationi
Other locations
- perinuclear region 3 Publications
Cytosol
- cytosol Source: HPA
Nucleus
- exon-exon junction complex Source: UniProtKB
- nucleus Source: HGNC-UCL
Other locations
- cytoplasm Source: HGNC-UCL
- cytoplasmic ribonucleoprotein granule Source: HPA
- perinuclear region of cytoplasm Source: UniProtKB-SubCell
- polysome Source: GO_Central
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 796 – 797 | RK → EE: Strongly impairs RNA-binding. 1 Publication | 2 | |
Mutagenesisi | 847 | D → K: Does not abolish interaction with UPF3B. 1 Publication | 1 | |
Mutagenesisi | 851 – 852 | ED → KR: Does not abolish interaction with UPF3B. Does not abolish interaction with UPF3B; when associated with D-854. 1 Publication | 2 | |
Mutagenesisi | 854 | R → D: Does not abolish interaction with UPF3B; when associated with K-851 and R-852. 1 Publication | 1 | |
Mutagenesisi | 858 | E → R: Abolishes interaction with UPF3B and association with SMG1 and RBM8A; reduces phosphorylation of UPF1. 2 Publications | 1 | |
Mutagenesisi | 894 | Y → A: Does not impair RNA-binding; when associated with A-932. 1 Publication | 1 | |
Mutagenesisi | 932 | Y → A: Does not impair RNA-binding; when associated with A-894. 1 Publication | 1 | |
Mutagenesisi | 1113 | F → E: Abolishes interaction with UPF1. | 1 | |
Mutagenesisi | 1120 | M → E: Decreases interaction with UPF1; does not reduce NMD efficiency. 1 Publication | 1 | |
Mutagenesisi | 1121 | M → E: Decreases interaction with UPF1; does not reduce NMD efficiency. 1 Publication | 1 | |
Mutagenesisi | 1123 | E → R: Decreases interaction with UPF1. 1 Publication | 1 | |
Mutagenesisi | 1169 | M → E: Decreases interaction with UPF1. 1 Publication | 1 | |
Mutagenesisi | 1171 | F → E: Abolishes interaction with UPF1; reduces NMD efficiency. 1 Publication | 1 | |
Mutagenesisi | 1171 | F → E: Greatly reduces NMD efficiency; when associated with E-1173 and E-1174. 1 Publication | 1 | |
Mutagenesisi | 1173 | M → E: Abolishes interaction with UPF1. 1 Publication | 1 | |
Mutagenesisi | 1173 | M → E: Greatly reduces NMD efficiency; when associated with E-1171 and E-1174. 1 Publication | 1 | |
Mutagenesisi | 1174 | L → E: Abolishes interaction with UPF1; reduces NMD efficiency. 1 Publication | 1 | |
Mutagenesisi | 1174 | L → E: Greatly reduces NMD efficiency; when associated with E-1171 and E-1173. 1 Publication | 1 | |
Mutagenesisi | 1176 | R → E: Decreases interaction with UPF1. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 26019 |
OpenTargetsi | ENSG00000151461 |
PharmGKBi | PA134945630 |
Miscellaneous databases
Pharosi | Q9HAU5, Tbio |
Genetic variation databases
BioMutai | UPF2 |
DMDMi | 60390647 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000097248 | 1 – 1272 | Regulator of nonsense transcripts 2Add BLAST | 1272 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1088 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9HAU5 |
jPOSTi | Q9HAU5 |
MassIVEi | Q9HAU5 |
MaxQBi | Q9HAU5 |
PaxDbi | Q9HAU5 |
PeptideAtlasi | Q9HAU5 |
PRIDEi | Q9HAU5 |
PTM databases
CarbonylDBi | Q9HAU5 |
iPTMneti | Q9HAU5 |
MetOSitei | Q9HAU5 |
PhosphoSitePlusi | Q9HAU5 |
Expressioni
Tissue specificityi
Ubiquitous.1 Publication
Gene expression databases
Bgeei | ENSG00000151461, Expressed in sural nerve and 244 other tissues |
Genevisiblei | Q9HAU5, HS |
Organism-specific databases
HPAi | ENSG00000151461, Low tissue specificity |
Interactioni
Subunit structurei
Found in a post-splicing messenger ribonucleoprotein (mRNP) complex. Associates with the exon junction complex (EJC).
Interacts with SMG1, EST1A, UPF1, UPF3A, UPF3B, EIF4A1 and EIF1.
10 PublicationsBinary interactionsi
Hide detailsQ9HAU5
Protein-protein interaction databases
BioGRIDi | 117490, 101 interactors |
CORUMi | Q9HAU5 |
DIPi | DIP-31148N |
IntActi | Q9HAU5, 41 interactors |
MINTi | Q9HAU5 |
STRINGi | 9606.ENSP00000348708 |
Miscellaneous databases
RNActi | Q9HAU5, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9HAU5 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9HAU5 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 168 – 431 | MIF4G 1Add BLAST | 264 | |
Domaini | 569 – 758 | MIF4G 2Add BLAST | 190 | |
Domaini | 773 – 986 | MIF4G 3Add BLAST | 214 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 94 – 133 | Sufficient for interaction with UPF1Add BLAST | 40 | |
Regioni | 711 – 928 | Sufficient for interaction with UPF3A and UPF3BAdd BLAST | 218 | |
Regioni | 757 – 1272 | Sufficient for interaction with EIF4A1 and EIF11 PublicationAdd BLAST | 516 | |
Regioni | 839 – 859 | Binds to UPF3BAdd BLAST | 21 | |
Regioni | 1084 – 1272 | Sufficient for interaction with UPF1 C-terminusAdd BLAST | 189 | |
Regioni | 1105 – 1198 | Necessary for interaction with UPF1Add BLAST | 94 | |
Regioni | 1105 – 1129 | Interaction with UPF1Add BLAST | 25 | |
Regioni | 1167 – 1207 | Interaction with UPF1Add BLAST | 41 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 54 – 134 | Sequence analysisAdd BLAST | 81 | |
Coiled coili | 487 – 559 | Sequence analysisAdd BLAST | 73 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 6 – 136 | Glu/Lys-richAdd BLAST | 131 | |
Compositional biasi | 1025 – 1094 | Glu-richAdd BLAST | 70 |
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG2051, Eukaryota |
GeneTreei | ENSGT00530000064318 |
HOGENOMi | CLU_002633_2_1_1 |
InParanoidi | Q9HAU5 |
OMAi | TRPQWKL |
OrthoDBi | 653534at2759 |
PhylomeDBi | Q9HAU5 |
TreeFami | TF300543 |
Family and domain databases
DisProti | DP00949 |
Gene3Di | 1.25.40.180, 3 hits |
IDEALi | IID00252 |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR016021, MIF4-like_sf IPR003890, MIF4G-like_typ-3 IPR039762, Nmd2/UPF2 IPR007193, Upf2/Nmd2_C |
PANTHERi | PTHR12839, PTHR12839, 1 hit |
Pfami | View protein in Pfam PF02854, MIF4G, 3 hits PF04050, Upf2, 1 hit |
SMARTi | View protein in SMART SM00543, MIF4G, 3 hits |
SUPFAMi | SSF48371, SSF48371, 3 hits |
i Sequence
Sequence statusi: Complete.
Q9HAU5-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPAERKKPAS MEEKDSLPNN KEKDCSERRT VSSKERPKDD IKLTAKKEVS
60 70 80 90 100
KAPEDKKKRL EDDKRKKEDK ERKKKDEEKV KAEEESKKKE EEEKKKHQEE
110 120 130 140 150
ERKKQEEQAK RQQEEEAAAQ MKEKEESIQL HQEAWERHHL RKELRSKNQN
160 170 180 190 200
APDSRPEENF FSRLDSSLKK NTAFVKKLKT ITEQQRDSLS HDFNGLNLSK
210 220 230 240 250
YIAEAVASIV EAKLKISDVN CAVHLCSLFH QRYADFAPSL LQVWKKHFEA
260 270 280 290 300
RKEEKTPNIT KLRTDLRFIA ELTIVGIFTD KEGLSLIYEQ LKNIINADRE
310 320 330 340 350
SHTHVSVVIS FCRHCGDDIA GLVPRKVKSA AEKFNLSFPP SEIISPEKQQ
360 370 380 390 400
PFQNLLKEYF TSLTKHLKRD HRELQNTERQ NRRILHSKGE LSEDRHKQYE
410 420 430 440 450
EFAMSYQKLL ANSQSLADLL DENMPDLPQD KPTPEEHGPG IDIFTPGKPG
460 470 480 490 500
EYDLEGGIWE DEDARNFYEN LIDLKAFVPA ILFKDNEKSC QNKESNKDDT
510 520 530 540 550
KEAKESKENK EVSSPDDLEL ELENLEINDD TLELEGGDEA EDLTKKLLDE
560 570 580 590 600
QEQEDEEAST GSHLKLIVDA FLQQLPNCVN RDLIDKAAMD FCMNMNTKAN
610 620 630 640 650
RKKLVRALFI VPRQRLDLLP FYARLVATLH PCMSDVAEDL CSMLRGDFRF
660 670 680 690 700
HVRKKDQINI ETKNKTVRFI GELTKFKMFT KNDTLHCLKM LLSDFSHHHI
710 720 730 740 750
EMACTLLETC GRFLFRSPES HLRTSVLLEQ MMRKKQAMHL DARYVTMVEN
760 770 780 790 800
AYYYCNPPPA EKTVKKKRPP LQEYVRKLLY KDLSKVTTEK VLRQMRKLPW
810 820 830 840 850
QDQEVKDYVI CCMINIWNVK YNSIHCVANL LAGLVLYQED VGIHVVDGVL
860 870 880 890 900
EDIRLGMEVN QPKFNQRRIS SAKFLGELYN YRMVESAVIF RTLYSFTSFG
910 920 930 940 950
VNPDGSPSSL DPPEHLFRIR LVCTILDTCG QYFDRGSSKR KLDCFLVYFQ
960 970 980 990 1000
RYVWWKKSLE VWTKDHPFPI DIDYMISDTL ELLRPKIKLC NSLEESIRQV
1010 1020 1030 1040 1050
QDLEREFLIK LGLVNDKDSK DSMTEGENLE EDEEEEEGGA ETEEQSGNES
1060 1070 1080 1090 1100
EVNEPEEEEG SDNDDDEGEE EEEENTDYLT DSNKENETDE ENTEVMIKGG
1110 1120 1130 1140 1150
GLKHVPCVED EDFIQALDKM MLENLQQRSG ESVKVHQLDV AIPLHLKSQL
1160 1170 1180 1190 1200
RKGPPLGGGE GEAESADTMP FVMLTRKGNK QQFKILNVPM SSQLAANHWN
1210 1220 1230 1240 1250
QQQAEQEERM RMKKLTLDIN ERQEQEDYQE MLQSLAQRPA PANTNRERRP
1260 1270
RYQHPKGAPN ADLIFKTGGR RR
Sequence cautioni
The sequence BAA92646 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 119 | A → T in BAC04721 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 338 | F → L in BAC04721 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 844 | H → Q in AAG48509 (PubMed:11163187).Curated | 1 | |
Sequence conflicti | 844 | H → Q in BAA92646 (PubMed:10718198).Curated | 1 | |
Sequence conflicti | 969 | P → S in BAA92646 (PubMed:10718198).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_024345 | 496 | N → S. Corresponds to variant dbSNP:rs7079388Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF301013 mRNA Translation: AAG33225.1 AY013249 mRNA Translation: AAG48509.1 AF318574 mRNA Translation: AAG60689.1 AB037829 mRNA Translation: BAA92646.1 Different initiation. AK000764 mRNA Translation: BAA91369.1 AK096191 mRNA Translation: BAC04721.1 Sequence problems. AC073160 Genomic DNA No translation available. AL138898 Genomic DNA No translation available. AL645617 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86329.1 CH471072 Genomic DNA Translation: EAW86330.1 CH471072 Genomic DNA Translation: EAW86332.1 CH471072 Genomic DNA Translation: EAW86333.1 BC114964 mRNA Translation: AAI14965.1 BC115737 mRNA Translation: AAI15738.1 AL080198 mRNA Translation: CAB45771.1 |
CCDSi | CCDS7086.1 |
PIRi | T12507 |
RefSeqi | NP_056357.1, NM_015542.3 NP_542166.1, NM_080599.2 |
Genome annotation databases
Ensembli | ENST00000356352; ENSP00000348708; ENSG00000151461 ENST00000357604; ENSP00000350221; ENSG00000151461 ENST00000397053; ENSP00000380244; ENSG00000151461 |
GeneIDi | 26019 |
KEGGi | hsa:26019 |
UCSCi | uc001ila.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF301013 mRNA Translation: AAG33225.1 AY013249 mRNA Translation: AAG48509.1 AF318574 mRNA Translation: AAG60689.1 AB037829 mRNA Translation: BAA92646.1 Different initiation. AK000764 mRNA Translation: BAA91369.1 AK096191 mRNA Translation: BAC04721.1 Sequence problems. AC073160 Genomic DNA No translation available. AL138898 Genomic DNA No translation available. AL645617 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW86329.1 CH471072 Genomic DNA Translation: EAW86330.1 CH471072 Genomic DNA Translation: EAW86332.1 CH471072 Genomic DNA Translation: EAW86333.1 BC114964 mRNA Translation: AAI14965.1 BC115737 mRNA Translation: AAI15738.1 AL080198 mRNA Translation: CAB45771.1 |
CCDSi | CCDS7086.1 |
PIRi | T12507 |
RefSeqi | NP_056357.1, NM_015542.3 NP_542166.1, NM_080599.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1UW4 | X-ray | 1.95 | B/D | 768-1015 | [»] | |
2WJV | X-ray | 2.85 | D/E | 1105-1198 | [»] | |
4CEK | X-ray | 2.35 | A | 455-757 | [»] | |
4CEM | X-ray | 2.60 | A/B | 121-486 | [»] | |
SMRi | Q9HAU5 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117490, 101 interactors |
CORUMi | Q9HAU5 |
DIPi | DIP-31148N |
IntActi | Q9HAU5, 41 interactors |
MINTi | Q9HAU5 |
STRINGi | 9606.ENSP00000348708 |
Protein family/group databases
MoonDBi | Q9HAU5, Predicted |
PTM databases
CarbonylDBi | Q9HAU5 |
iPTMneti | Q9HAU5 |
MetOSitei | Q9HAU5 |
PhosphoSitePlusi | Q9HAU5 |
Genetic variation databases
BioMutai | UPF2 |
DMDMi | 60390647 |
Proteomic databases
EPDi | Q9HAU5 |
jPOSTi | Q9HAU5 |
MassIVEi | Q9HAU5 |
MaxQBi | Q9HAU5 |
PaxDbi | Q9HAU5 |
PeptideAtlasi | Q9HAU5 |
PRIDEi | Q9HAU5 |
Protocols and materials databases
Antibodypediai | 24600, 162 antibodies |
Genome annotation databases
Ensembli | ENST00000356352; ENSP00000348708; ENSG00000151461 ENST00000357604; ENSP00000350221; ENSG00000151461 ENST00000397053; ENSP00000380244; ENSG00000151461 |
GeneIDi | 26019 |
KEGGi | hsa:26019 |
UCSCi | uc001ila.3, human |
Organism-specific databases
CTDi | 26019 |
DisGeNETi | 26019 |
GeneCardsi | UPF2 |
HGNCi | HGNC:17854, UPF2 |
HPAi | ENSG00000151461, Low tissue specificity |
MIMi | 605529, gene |
neXtProti | NX_Q9HAU5 |
OpenTargetsi | ENSG00000151461 |
PharmGKBi | PA134945630 |
VEuPathDBi | HostDB:ENSG00000151461.19 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2051, Eukaryota |
GeneTreei | ENSGT00530000064318 |
HOGENOMi | CLU_002633_2_1_1 |
InParanoidi | Q9HAU5 |
OMAi | TRPQWKL |
OrthoDBi | 653534at2759 |
PhylomeDBi | Q9HAU5 |
TreeFami | TF300543 |
Enzyme and pathway databases
PathwayCommonsi | Q9HAU5 |
Reactomei | R-HSA-9010553, Regulation of expression of SLITs and ROBOs R-HSA-975957, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
Miscellaneous databases
BioGRID-ORCSi | 26019, 718 hits in 894 CRISPR screens |
ChiTaRSi | UPF2, human |
EvolutionaryTracei | Q9HAU5 |
GeneWikii | UPF2 |
GenomeRNAii | 26019 |
Pharosi | Q9HAU5, Tbio |
PROi | PR:Q9HAU5 |
RNActi | Q9HAU5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000151461, Expressed in sural nerve and 244 other tissues |
Genevisiblei | Q9HAU5, HS |
Family and domain databases
DisProti | DP00949 |
Gene3Di | 1.25.40.180, 3 hits |
IDEALi | IID00252 |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR016021, MIF4-like_sf IPR003890, MIF4G-like_typ-3 IPR039762, Nmd2/UPF2 IPR007193, Upf2/Nmd2_C |
PANTHERi | PTHR12839, PTHR12839, 1 hit |
Pfami | View protein in Pfam PF02854, MIF4G, 3 hits PF04050, Upf2, 1 hit |
SMARTi | View protein in SMART SM00543, MIF4G, 3 hits |
SUPFAMi | SSF48371, SSF48371, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RENT2_HUMAN | |
Accessioni | Q9HAU5Primary (citable) accession number: Q9HAU5 Secondary accession number(s): A6NLJ5 Q9Y4M9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 1, 2005 |
Last sequence update: | March 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 178 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
3D-structure, Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - 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 - Human entries with genetic variants
List of human entries with genetic variants