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Regulator of nonsense transcripts 3B

 
Known also as: Nonsense mRNA reducing factor 3B, Up-frameshift suppressor 3 homolog B, Up-frameshift suppressor 3 homolog on chromosome X

Known abbreviations: hUpf3p-X, hUpf3B

 

FUNCTION:
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 indepenedent of association with UPF2 and components of the EJC core. Ref.1 Ref.7 Ref.9 Ref.10 Ref.11
 
SUBUNIT STRUCTURE:
 
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. 
 
CELLULAR LOCALIZATION:
 
Nucleus. Cytoplasm. Note: Shuttling between the nucleus and the cytoplasm. 
 
TISSUE SPECIFICITY:
 
Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta. 
 
INVOLVEMENT IN DISEASE:
 
Defects in UPF3B are the cause of mental retardation syndromic X-linked type 14 (MRXS14) [MIM:300676]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative 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.
 



Activities in which Regulator of nonsense transcripts 3B is involved: Pathways in which Regulator of nonsense transcripts 3B is involved:

NCBI GI number(s): 12711674
304361770
18375528
304361772
Species: Homo sapiens

Links to other databases:

Database ID Link
Uniprot Q9BZI7 Q9BZI7
BRENDA - -
KEGG hsa:65109 hsa:65109
PFAM: PF03467
PF03467
InterPro: IPR005120
IPR012677
IPR005120
IPR012677
CATH: - -
SCOP: - -
Solved crystal structures: 1UW4
2XB2
[PDB] [details]
[PDB] [details]


Protein sequence:
MKEEKEHRPKEKRVTLLTPAGATGSGGGTSGDSSKGEDKQDRNKEKKEAL
SKVVIRRLPPTLTKEQLQEHLQPMPEHDYFEFFSNDTSLYPHMYARAYIN
FKNQEDIILFRDRFDGYVFLDNKGQEYPAIVEFAPFQKAAKKKTKKRDTK
VGTIDDDPEYRKFLESYATDNEKMTSTPETLLEEIEAKNRELIAKKTTPL
LSFLKNKQRMREEKREERRRREIERKRQREEERRKWKEEEKRKRKDIEKL
KKIDRIPERDKLKDEPKIKVHRFLLQAVNQKNLLKKPEKGDEKELDKREK
AKKLDKENLSDERASGQSCTLPKRSDSELKDEKPKRPEDESGRDYRERER
EYERDQERILRERERLKRQEEERRRQKERYEKEKTFKRKEEEMKKEKDTL
RDKGKKAESTESIGSSEKTEKKEEVVKRDRIRNKDRPAMQLYQPGARSRN
RLCPPDDSTKSGDSAAERKQESGISHRKEGGEE

Regulator of nonsense transcripts 3B (Homo sapiens) is product of expression of UPF3B gene.

References:

Title Authors Journal Publication date (Issue) PubMed ID
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, K Genome Res 2004-10-01 (14) 15489334
Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. Chiu SY, Serin G, Ohara O, Maquat LE RNA 2003-02-01 (9) 12554878
Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. Lykke-Andersen J, Shu MD, Steitz JA Cell 2000-12-22 (103) 11163187
Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. Kim VN, Kataoka N, Dreyfuss G Science 2001-09-07 (293) 11546873
Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation. Kunz JB, Neu-Yilik G, Hentze MW, Kulozik AE, Gehring NH RNA 2006-06-01 (12) 16601204
Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements. Gehring NH, Kunz JB, Neu-Yilik G, Breit S, Viegas MH, Hentze MW, Kulozik AE Mol Cell 2005-10-07 (20) 16209946
Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Lykke-Andersen J, Shu MD, Steitz JA Science 2001-09-07 (293) 11546874
Initial characterization of the human central proteome. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J BMC Syst Biol 2011-01-01 (5) 21269460
A quantitative atlas of mitotic phosphorylation. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP Proc Natl Acad Sci U S A 2008-08-05 (105) 18669648
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK Sci Signal 2009-01-01 (2) 19690332
Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). Serin G, Gersappe A, Black JD, Aronoff R, Maquat LE Mol Cell Biol 2001-02-01 (21) 11113196
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 2008-02-01 (15) 18066079
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 2004-04-01 (11) 15004547
Y14 and hUpf3b form an NMD-activating complex. Gehring NH, Neu-Yilik G, Schell T, Hentze MW, Kulozik AE Mol Cell 2003-04-01 (11) 12718880
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 2010-06-01 (107) 20479275
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Tarpey PS, Raymond FL, Nguyen LS, 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 SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gecz J Nat Genet 2007-09-01 (39) 17704778



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Last modification of this entry: Sept. 25, 2012.

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