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Q9BZI7

- REN3B_HUMAN

UniProt

Q9BZI7 - REN3B_HUMAN

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Protein

Regulator of nonsense transcripts 3B

Gene
UPF3B, RENT3B, UPF3X
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 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 UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is independent of association with UPF2 and components of the EJC core.5 Publications

GO - Molecular functioni

  1. mRNA binding Source: UniProtKB
  2. nucleocytoplasmic transporter activity Source: UniProtKB
  3. nucleotide binding Source: InterPro
  4. poly(A) RNA binding Source: UniProtKB
  5. protein binding Source: UniProtKB

GO - Biological processi

  1. gene expression Source: Reactome
  2. mRNA 3'-end processing Source: Reactome
  3. mRNA export from nucleus Source: Reactome
  4. mRNA metabolic process Source: Reactome
  5. mRNA splicing, via spliceosome Source: Reactome
  6. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProtKB
  7. positive regulation of translation Source: UniProtKB
  8. RNA metabolic process Source: Reactome
  9. RNA splicing Source: Reactome
  10. termination of RNA polymerase II transcription Source: Reactome
  11. transcription from RNA polymerase II promoter Source: Reactome
Complete GO annotation...

Keywords - Biological processi

mRNA transport, Nonsense-mediated mRNA decay, Transport

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

ReactomeiREACT_1597. Transport of Mature mRNA derived from an Intron-Containing Transcript.
REACT_1849. mRNA 3'-end processing.
REACT_467. mRNA Splicing - Major Pathway.
REACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

Names & Taxonomyi

Protein namesi
Recommended name:
Regulator of nonsense transcripts 3B
Alternative name(s):
Nonsense mRNA reducing factor 3B
Up-frameshift suppressor 3 homolog B
Short name:
hUpf3B
Up-frameshift suppressor 3 homolog on chromosome X
Short name:
hUpf3p-X
Gene namesi
Name:UPF3B
Synonyms:RENT3B, UPF3X
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:20439. UPF3B.

Subcellular locationi

Nucleus. Cytoplasm
Note: Shuttling between the nucleus and the cytoplasm.2 Publications

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: Reactome
  3. exon-exon junction complex Source: UniProtKB
  4. nucleoplasm Source: Reactome
  5. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked, syndromic, 14 (MRXS14) [MIM:300676]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS14 patients manifest mental retardation associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti160 – 1601Y → D in MRXS14. 1 Publication
VAR_037666

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi52 – 521K → E: Abolishes interaction with UPF2. 1 Publication
Mutagenesisi53 – 586VVIRRL → AVARRA: Abolishes interaction with UPF2. 1 Publication
Mutagenesisi56 – 561R → E: Does not abolish interaction with UPF2. 1 Publication
Mutagenesisi117 – 1193YVF → DVD: Abolishes interaction with UPF2. 1 Publication
Mutagenesisi430 – 4301R → A: Reduces NMD. 1 Publication
Mutagenesisi432 – 4321R → A: Reduces NMD. 2 Publications
Mutagenesisi434 – 44714Missing: Abolishes NMD. 2 PublicationsAdd
BLAST
Mutagenesisi434 – 4341K → A: Reduces NMD. 1 Publication
Mutagenesisi435 – 4351D → A: Reduces NMD. 1 Publication
Mutagenesisi436 – 4361R → A: Impairs association with EJC. 2 Publications
Mutagenesisi436 – 4361R → A: Reduces NMD. 2 Publications
Mutagenesisi441 – 4411L → F: Reduces NMD. 1 Publication
Mutagenesisi442 – 4421Y → A: Impairs association with EJC. 1 Publication
Mutagenesisi447 – 4471R → E: Abolishes NMD; when associated with E-449 and E-451. 1 Publication
Mutagenesisi449 – 4491R → E: Abolishes NMD; when associated with E-447 and E-451. 1 Publication
Mutagenesisi451 – 4511R → E: Abolishes NMD; when associated with E-447 and E-449. 1 Publication

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi300676. phenotype.
Orphaneti323. FG syndrome.
776. X-linked intellectual disability with marfanoid habitus.
777. X-linked non-syndromic intellectual disability.
PharmGKBiPA128394708.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 483483Regulator of nonsense transcripts 3BPRO_0000215297Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei169 – 1691Phosphothreonine3 Publications
Modified residuei198 – 1981Phosphothreonine1 Publication
Modified residuei310 – 3101Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BZI7.
PaxDbiQ9BZI7.
PRIDEiQ9BZI7.

PTM databases

PhosphoSiteiQ9BZI7.

Expressioni

Tissue specificityi

Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta.1 Publication

Gene expression databases

ArrayExpressiQ9BZI7.
BgeeiQ9BZI7.
CleanExiHS_UPF3B.
GenevestigatoriQ9BZI7.

Organism-specific databases

HPAiHPA001800.
HPA001882.

Interactioni

Subunit structurei

Found in a post-splicing messenger ribonucleoprotein (mRNP) complex. Associates with the exon junction complex (EJC); the EJC core components EIF4A3 and the MAGOH-RBM8A dimer form a composite binding site for UPF3B which overlaps with the EJC binding site for WIBG. Interacts with EST1A, UPF2 and RBM8A.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
EIF4A3P389197EBI-372780,EBI-299104
RBM8AQ9Y5S99EBI-372780,EBI-447231
UPF1Q929008EBI-372780,EBI-373471
UPF2Q9HAU56EBI-372780,EBI-372073

Protein-protein interaction databases

BioGridi122396. 23 interactions.
DIPiDIP-31143N.
IntActiQ9BZI7. 19 interactions.
MINTiMINT-265168.
STRINGi9606.ENSP00000276201.

Structurei

Secondary structure

1
483
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi52 – 587
Helixi64 – 718
Beta strandi77 – 859
Beta strandi95 – 10410
Helixi105 – 11410
Beta strandi118 – 1203
Beta strandi126 – 1283
Beta strandi130 – 1334
Turni433 – 4353

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1UW4X-ray1.95A/C50-140[»]
2XB2X-ray3.40G/U424-483[»]
ProteinModelPortaliQ9BZI7.
SMRiQ9BZI7. Positions 50-140.

Miscellaneous databases

EvolutionaryTraceiQ9BZI7.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni30 – 255226Necessary for interaction with UPF2Add
BLAST
Regioni52 – 576Binds to UPF2
Regioni94 – 483390Sufficient for association with EJC coreAdd
BLAST
Regioni430 – 44718Necessary for interaction with RBM8A and for activating NMDAdd
BLAST

Sequence similaritiesi

Belongs to the RENT3 family.

Phylogenomic databases

eggNOGiNOG251520.
HOGENOMiHOG000230909.
HOVERGENiHBG059714.
InParanoidiQ9BZI7.
KOiK14328.
OMAiYFEFFAN.
OrthoDBiEOG7M6D9K.
PhylomeDBiQ9BZI7.
TreeFamiTF316034.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR005120. Nonsense_mediated_decay_UPF3.
IPR012677. Nucleotide-bd_a/b_plait.
[Graphical view]
PfamiPF03467. Smg4_UPF3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BZI7-1) [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

MKEEKEHRPK EKRVTLLTPA GATGSGGGTS GDSSKGEDKQ DRNKEKKEAL    50
SKVVIRRLPP TLTKEQLQEH LQPMPEHDYF EFFSNDTSLY PHMYARAYIN 100
FKNQEDIILF RDRFDGYVFL DNKGQEYPAI VEFAPFQKAA KKKTKKRDTK 150
VGTIDDDPEY RKFLESYATD NEKMTSTPET LLEEIEAKNR ELIAKKTTPL 200
LSFLKNKQRM REEKREERRR REIERKRQRE EERRKWKEEE KRKRKDIEKL 250
KKIDRIPERD KLKDEPKIKV HRFLLQAVNQ KNLLKKPEKG DEKELDKREK 300
AKKLDKENLS DERASGQSCT LPKRSDSELK DEKPKRPEDE SGRDYRERER 350
EYERDQERIL RERERLKRQE EERRRQKERY EKEKTFKRKE EEMKKEKDTL 400
RDKGKKAEST ESIGSSEKTE KKEEVVKRDR IRNKDRPAMQ LYQPGARSRN 450
RLCPPDDSTK SGDSAAERKQ ESGISHRKEG GEE 483
Length:483
Mass (Da):57,762
Last modified:June 1, 2001 - v1
Checksum:iF5A8A395783D1A69
GO
Isoform 2 (identifier: Q9BZI7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     270-282: Missing.

Show »
Length:470
Mass (Da):56,213
Checksum:iC012044D45D9957F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti160 – 1601Y → D in MRXS14. 1 Publication
VAR_037666

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei270 – 28213Missing in isoform 2. VSP_012963Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti358 – 3581R → H in AAI21018. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY013251 mRNA. Translation: AAG48511.1.
AF318576 mRNA. Translation: AAG60691.1.
CH471161 Genomic DNA. Translation: EAW89842.1.
CH471161 Genomic DNA. Translation: EAW89844.1.
CH471161 Genomic DNA. Translation: EAW89845.1.
CH471161 Genomic DNA. Translation: EAW89846.1.
BC121017 mRNA. Translation: AAI21018.1.
CCDSiCCDS14587.1. [Q9BZI7-2]
CCDS14588.1. [Q9BZI7-1]
RefSeqiNP_075386.1. NM_023010.3. [Q9BZI7-2]
NP_542199.1. NM_080632.2. [Q9BZI7-1]
UniGeneiHs.103832.

Genome annotation databases

EnsembliENST00000276201; ENSP00000276201; ENSG00000125351. [Q9BZI7-1]
ENST00000345865; ENSP00000245418; ENSG00000125351. [Q9BZI7-2]
GeneIDi65109.
KEGGihsa:65109.
UCSCiuc004erz.2. human. [Q9BZI7-1]
uc004esa.2. human. [Q9BZI7-2]

Polymorphism databases

DMDMi60390643.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY013251 mRNA. Translation: AAG48511.1 .
AF318576 mRNA. Translation: AAG60691.1 .
CH471161 Genomic DNA. Translation: EAW89842.1 .
CH471161 Genomic DNA. Translation: EAW89844.1 .
CH471161 Genomic DNA. Translation: EAW89845.1 .
CH471161 Genomic DNA. Translation: EAW89846.1 .
BC121017 mRNA. Translation: AAI21018.1 .
CCDSi CCDS14587.1. [Q9BZI7-2 ]
CCDS14588.1. [Q9BZI7-1 ]
RefSeqi NP_075386.1. NM_023010.3. [Q9BZI7-2 ]
NP_542199.1. NM_080632.2. [Q9BZI7-1 ]
UniGenei Hs.103832.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1UW4 X-ray 1.95 A/C 50-140 [» ]
2XB2 X-ray 3.40 G/U 424-483 [» ]
ProteinModelPortali Q9BZI7.
SMRi Q9BZI7. Positions 50-140.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122396. 23 interactions.
DIPi DIP-31143N.
IntActi Q9BZI7. 19 interactions.
MINTi MINT-265168.
STRINGi 9606.ENSP00000276201.

PTM databases

PhosphoSitei Q9BZI7.

Polymorphism databases

DMDMi 60390643.

Proteomic databases

MaxQBi Q9BZI7.
PaxDbi Q9BZI7.
PRIDEi Q9BZI7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000276201 ; ENSP00000276201 ; ENSG00000125351 . [Q9BZI7-1 ]
ENST00000345865 ; ENSP00000245418 ; ENSG00000125351 . [Q9BZI7-2 ]
GeneIDi 65109.
KEGGi hsa:65109.
UCSCi uc004erz.2. human. [Q9BZI7-1 ]
uc004esa.2. human. [Q9BZI7-2 ]

Organism-specific databases

CTDi 65109.
GeneCardsi GC0XM118967.
HGNCi HGNC:20439. UPF3B.
HPAi HPA001800.
HPA001882.
MIMi 300298. gene.
300676. phenotype.
neXtProti NX_Q9BZI7.
Orphaneti 323. FG syndrome.
776. X-linked intellectual disability with marfanoid habitus.
777. X-linked non-syndromic intellectual disability.
PharmGKBi PA128394708.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG251520.
HOGENOMi HOG000230909.
HOVERGENi HBG059714.
InParanoidi Q9BZI7.
KOi K14328.
OMAi YFEFFAN.
OrthoDBi EOG7M6D9K.
PhylomeDBi Q9BZI7.
TreeFami TF316034.

Enzyme and pathway databases

Reactomei REACT_1597. Transport of Mature mRNA derived from an Intron-Containing Transcript.
REACT_1849. mRNA 3'-end processing.
REACT_467. mRNA Splicing - Major Pathway.
REACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

Miscellaneous databases

ChiTaRSi UPF3B. human.
EvolutionaryTracei Q9BZI7.
GeneWikii UPF3B.
GenomeRNAii 65109.
NextBioi 67302.
PROi Q9BZI7.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BZI7.
Bgeei Q9BZI7.
CleanExi HS_UPF3B.
Genevestigatori Q9BZI7.

Family and domain databases

Gene3Di 3.30.70.330. 1 hit.
InterProi IPR005120. Nonsense_mediated_decay_UPF3.
IPR012677. Nucleotide-bd_a/b_plait.
[Graphical view ]
Pfami PF03467. Smg4_UPF3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon."
    Lykke-Andersen J., Shu M.-D., Steitz J.A.
    Cell 103:1121-1131(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION IN NONSENSE-MEDIATED MRNA DECAY, INTERACTION WITH UPF1 AND UPF2, SUBCELLULAR LOCATION.
  2. "Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)."
    Serin G., Gersappe A., Black J.D., Aronoff R., Maquat L.E.
    Mol. Cell. Biol. 21:209-223(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH UPF2, MUTAGENESIS OF 53-VAL--LEU-58 AND 117-TYR--PHE-119, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Cervix carcinoma.
  3. 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] (ISOFORM 2).
  5. "Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex."
    Kim V.N., Kataoka N., Dreyfuss G.
    Science 293:1832-1836(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RBM8A, IDENTIFICATION IN A POST-SPLICING MRNP COMPLEX, ASSOCIATION WITH THE EJC COMPLEX, RNA-BINDING.
  6. "Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1."
    Lykke-Andersen J., Shu M.-D., Steitz J.A.
    Science 293:1836-1839(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN A POST-SPLICING MRNP COMPLEX, ASSOCIATION WITH THE EJC COMPLEX.
  7. Cited for: FUNCTION IN NONSENSE-MEDIATED MRNA DECAY, INTERACTION WITH RBM8A, MUTAGENESIS OF ARG-430; ARG-432; 434-LYS--ARG-447; LYS-434; ASP-435; ARG-436 AND LEU-441.
  8. "Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1."
    Chiu S.-Y., Serin G., Ohara O., Maquat L.E.
    RNA 9:77-87(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH EST1A.
  9. "Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements."
    Gehring N.H., Kunz J.B., Neu-Yilik G., Breit S., Viegas M.H., Hentze M.W., Kulozik A.E.
    Mol. Cell 20:65-75(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN NONSENSE-MEDIATED MRNA DECAY, ASSOCIATION WITH THE EJC COMPLEX, IDENTIFICATION IN A COMPLEX WITH UPF2 AND RNPS1.
  10. "Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation."
    Kunz J.B., Neu-Yilik G., Hentze M.W., Kulozik A.E., Gehring N.H.
    RNA 12:1015-1022(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN NONSENSE-MEDIATED MRNA DECAY, FUNCTION IN TRANSLATION STIMULATION, ASSOCIATION WITH THE EJC COMPLEX, MUTAGENESIS OF ARG-432.
  11. "NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity."
    Chamieh H., Ballut L., Bonneau F., Le Hir H.
    Nat. Struct. Mol. Biol. 15:85-93(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, RECONSTITUTION OF THE EJC CORE-UPF COMPLEX.
  12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-169, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-169, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  14. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-198, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-169 AND SER-310, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. "The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3."
    Kadlec J., Izaurralde E., Cusack S.
    Nat. Struct. Mol. Biol. 11:330-337(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 50-140 IN COMPLEX WITH UPF2, RNA-BINDING, MUTAGENESIS OF LYS-52 AND ARG-56.
  18. "Insights into the recruitment of the NMD machinery from the crystal structure of a core EJC-UPF3b complex."
    Buchwald G., Ebert J., Basquin C., Sauliere J., Jayachandran U., Bono F., Le Hir H., Conti E.
    Proc. Natl. Acad. Sci. U.S.A. 107:10050-10055(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (3.4 ANGSTROMS) OF 424-483 IN COMPLEX WITH EIF4A3; MAGOH; RBM8A AND CASC3, MUTAGENESIS OF ARG-436; TYR-442; ARG-447; ARG-449 AND ARG-451.
  19. "Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation."
    Tarpey P.S., Raymond F.L., Nguyen L.S., Rodriguez J., Hackett A., Vandeleur L., Smith R., Shoubridge C., Edkins S., Stevens C., O'Meara S., Tofts C., Barthorpe S., Buck G., Cole J., Halliday K., Hills K., Jones D.
    , Mironenko T., Perry J., Varian J., West S., Widaa S., Teague J., Dicks E., Butler A., Menzies A., Richardson D., Jenkinson A., Shepherd R., Raine K., Moon J., Luo Y., Parnau J., Bhat S.S., Gardner A., Corbett M., Brooks D., Thomas P., Parkinson-Lawrence E., Porteous M.E., Warner J.P., Sanderson T., Pearson P., Simensen R.J., Skinner C., Hoganson G., Superneau D., Wooster R., Bobrow M., Turner G., Stevenson R.E., Schwartz C.E., Futreal P.A., Srivastava A.K., Stratton M.R., Gecz J.
    Nat. Genet. 39:1127-1133(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MRXS14 ASP-160.

Entry informationi

Entry nameiREN3B_HUMAN
AccessioniPrimary (citable) accession number: Q9BZI7
Secondary accession number(s): D3DWI3
, D3DWI4, Q0VAK8, Q9H1J0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: June 1, 2001
Last modified: September 3, 2014
This is version 118 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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